CNS vasculitis

Central nervous system (CNS) vasculitis is the inflammation of blood vessels in the brain resulting in restricted blood flow. CNS vasculitis is a condition where the immune system attacks the blood vessels in the brain. CNS vasculitis is among a family of rare disorders characterized by inflammation of the blood vessels, which restricts blood flow and damages vital organs and tissues. A serious condition, CNS vasculitis can block the vessels that supply the brain and spinal cord, causing potentially life-threatening complications such as loss of brain function, or stroke.

CNS vasculitis can cause headaches, irritability, learning problems, vision problems, weakness on one side of the body, seizures, or stroke.

If you think your child may have CNS vasculitis, contact your family doctor and ask her to examine your child.

The naming of CNS vasculitis is very confusing. When you look at pages on the Web, you may see many different names for the same disease, including:

• Isolated angiitis of the CNS (IACNS)
• Transient cerebral arteriopathy (TCA)
• Transient cerebral vasculopathy

In medical journals, you will most often see childhood CNS vasculitis referred to as cPACNS. This stands for “childhood primary angiitis of the CNS.”

Different types of CNS vasculitis are described in these terms:

• the size of the blood vessel that is affected: small vessel or large vessel CNS vasculitis
• whether the CNS vasculitis is spreading (progressive) or not spreading (non-progressive)

CNS vasculitis is typically categorized as “primary” and “secondary”:

1. Primary angiitis of the CNS (PACNS) is vasculitis confined specifically to the brain and spinal cord, which make up the central nervous system. It is not associated with any other systemic (affecting the whole body) disease.
2. Secondary CNS vasculitis usually occurs in the presence of other autoimmune diseases such systemic lupus erythematosus, dermatomyositis, or rheumatoid arthritis; systemic forms of vasculitis, such as granulomatosis with polyangiitis, microscopic polyangiitis, or Behcet’s syndrome; or viral or bacterial infections.

Your doctor needs to find out which type your child has, because the different types are treated in different ways. In general, these are the three types:

1. Small vessel CNS vasculitis: This type is severe and needs to be treated with strong medicine. Once it is found and treated, it heals very well.
2. Progressive large vessel CNS vasculitis: This type will spread to other blood vessels if it is not treated.
3. Non-progressive large vessel CNS vasculitis: This type does not spread, but it needs to be treated to prevent brain damage.

Diagnosis of CNS vasculitis can be challenging because a number of other diseases and infections have similar symptoms. Once diagnosed, CNS vasculitis is typically treated with corticosteroids such as prednisone, used in combination with medications that suppress the immune system. Even with effective treatment, relapse of CNS vasculitis is common, so ongoing medical follow-up is important.

Who gets CNS vasculitis?

In general, CNS vasculitis is considered rare. In the case of primary angiitis of the CNS (PACNS), the disorder can affect people of all ages but generally peaks around age 50. It most often occurs in males.

Primary CNS vasculitis of childhood

Primary CNS vasculitis of childhood is a serious but potentially reversible inflammatory brain disease. CNS vasculitis in children can occur as a primary disease that is isolated to the CNS or as a secondary manifestation of an underlying systemic condition. Although numerous systemic inflammatory diseases and infections have long been recognized as responsible for causing secondary CNS vasculitis, primary CNS vasculitis of childhood has only recently been described as a reversible inflammatory brain disease in case reports and case series ¹⁾.

To date no diagnostic criteria for children are available; thus, the adult definition is applied in practice ²⁾. There are 2 main diagnostic categories: large-medium vessel disease and small vessel disease.

The diagnosis of large-medium disease is based on magnetic resonance angiography and conventional angiography evidence of vasculitis in the CNS, in the absence of underlying systemic inflammatory disease ³⁾. Lesions typically conform to the territory defined by a particular arterial distribution.

Small vessel CNS vasculitis affects vessels smaller than those seen by magnetic resonance angiography and conventional angiography. Therefore, by definition, this condition has negative angiography findings ⁴⁾. Lesions can be multifocal and bilateral and tend not to conform to a distinct vascular distribution. The diagnosis is confirmed by brain biopsy findings.

Large-medium vessel disease has been further subdivided into progressive and nonprogressive groups, which are defined by evidence of disease progression on angiography findings 3 months after diagnosis. Nonprogressive large-medium vessel vasculitis shares many similarities with both postvaricella angiopathy and transient cerebral arteriopathy of childhood. A significant overlap in the presentation and imaging findings among these conditions is often observed. Studies are needed to define the differences in pathophysiology and treatment requirements for each clinical disorder and to determine whether these are, in fact, distinct disease entities.

Children with progressive large-medium vessel disease typically have neurocognitive dysfunction at presentation, multifocal lesions on MRI, and evidence of distal stenosis on angiography ⁵⁾.

The risk of progression in terms of new vascular lesions is considered to be low when the presentation consists of an isolated stroke and imaging reveals evidence of unilateral, proximal vessel stenosis ⁶⁾. However, the risk of recurrent stroke due to the initial vascular injury in the same distribution is thought to be significant. Decreasing the subsequent stroke risk is the rationale for treating these patients with immunosuppressive therapy ⁷⁾.

The cause of primary CNS vasculitis of childhood is unknown. By definition, any case of CNS vasculitis caused by an underlying systemic disease is not primary CNS vasculitis.

Primary Angiitis of the CNS

Primary angiitis of the central nervous system (PACNS) is frequently considered in the differential diagnosis in patients with cryptogenic neurologic illness or in young subjects with ischemic stroke. The absence of characteristic clinical, laboratory, or radiographic features of this rare disease make the diagnosis very difficult, and has contaminated the literature with unproven cases in which alternative diagnoses are plausible.

The causey and pathogenesis of primary angiitis of the CNS are unknown. The fundamental mechanism of all vasculitides is immunologic; Crowe ⁸⁾ discussed 4 different mechanisms of tissue injury that might apply to the pathogenesis of vasculitis: immune complexes, direct antibody-mediated damage, delayed hypersensitivity, and cytotoxic T lymphocytes. With the limited knowledge scientists have about primary angiitis of the CNS, no strong evidence supports any of these mechanisms in the pathogenesis of this disease, although the granulomatous nature of inflammation suggests a role of cell-mediated immunity ⁹⁾.

As in other autoimmune disorders, T cells that become sensitized in the course of systemic illness or viral infection probably later contribute to a cellular immune response directed against cross-reacting epitopes in CNS vessels ¹⁰⁾. Other authors propose that, in the setting of altered host defense mechanisms, a virus or other pathogen may lead directly or indirectly to diffuse cerebral vasculitis ¹¹⁾.

The latter hypothesis is supported by the rare condition in which vasculitis involving mainly the ipsilateral anterior circulation with consequent infarcts occurs days to weeks following varicella-zoster infection of the first division of the trigeminal nerve. The mechanism seems to be retrograde spread of the virus from Gasserian ganglion to the arteries of the anterior circle of Willis ¹²⁾.

Pathologically confirmed cases of primary angiitis of the CNS have been reported in patients with Hodgkin disease, amyloid angiopathy, and graft-versus-host disease. However, available information in these cases does not allow any conclusion about the causal relation between these diseases and primary angiitis of the CNS ¹³⁾.

Regardless of the cause of primary angiitis of the CNS, the main mechanism of neurologic damage in these patients is ischemic. This results from 3 consequences of inflammation in the vascular wall: obstruction of the vessel lumen, increased local coagulation from the effects of proinflammatory cytokines on the endothelial surface, and alteration in vasomotor tone ¹⁴⁾.

Primary angiitis of the CNS is reported more frequently in North America, Europe, Australia, and New Zealand. Whether the disease has a higher incidence in these regions or it has just been more successfully diagnosed and reported there is unclear.

Men are more commonly affected by primary angiitis of the CNS than women; the male-to-female ratio is about 7:3 ¹⁵⁾.

In most reported cases, patients were in the fourth to sixth decades of life at time of diagnosis. However, patients aged 7 months to 78 years have been described ¹⁶⁾.

Mortality and morbidity of primary angiitis of the CNS are hard to determine due to the variability in diagnosis means and treatment among published series. However, treatment with steroids and immunosuppressants has improved the outcomes of the disease, which used to be fatal. In a recent report, 14% of 29 patients with biopsy-proven primary angiitis of the CNS died or had severe morbidity (Modified Rankin Scale of 5) at follow-up of 1.14 years ¹⁷⁾.

CNS vasculitis causes

The brain and the spinal column make up the central nervous system (CNS). Vasculitis is an inflammation of the blood vessels. Blood vessels are the veins and arteries that carry blood around the body including the brain. So CNS vasculitis is an inflammation of blood vessels in the brain.

The cause of CNS vasculitis is not fully understood by researchers. Inflammation (irritation and swelling) is a normal process. It is how our immune systems protect our bodies from bacteria and viruses that cause infection. But in CNS vasculitis, there is no infection. Instead, the immune system wrongly attacks normal cells causing inflammation. This type of problem is called an autoimmune disease. CNS vasculitis is classified as an autoimmune disorder—a disease which occurs when the body’s natural defense system mistakenly attacks healthy tissues. Researchers believe an infection may contribute to the onset of CNS vasculitis. Environmental and genetic factors may play a role as well.

CNS vasculitis signs and symptoms

Many forms of vasculitis are accompanied by fever, fatigue, sudden weight loss, or skin rashes.

The first signs of CNS vasculitis are usually one or more of the following:

• Severe headaches that don’t go away ¹⁸⁾
• Irritability
• Learning problems
• Eyesight (vision) problems
• Problems dealing with loud sounds or bright lights
• Forgetfulness or confusion
• Abnormal sensations or loss of sensations

Most children are not diagnosed with CNS vasculitis when these symptoms first appear.

Usually, a child is diagnosed with CNS vasculitis after having one of these serious problems:

• Numbness, weakness, or paralysis of one side of the body (hemiplegia)
• Seizures or convulsions
• Strokes or transient ischemic attacks (mini-strokes)
• Swelling of the brain (encephalopathy)
• Difficulty with coordination.

The presentation may be affected by the type of vascular lesion (large-medium vs small vessel), as well as the location of discrete lesions seen on MRI and angiography.

• Large-medium vessel disease frequently presents with focal deficits, including acute hemiparesis, hemisensory deficit, or fine motor deficit. Diffuse deficits are also seen in this condition and may include headache, concentration and cognitive deficits, behavior and personality changes, and seizures. Neurocognitive dysfunction and headaches are reportedly more frequent in progressive large-medium vessel disease, whereas hemiparesis is a more common presentation in nonprogressive large-medium vessel disease ¹⁹⁾.
• Small vessel disease also has a wide variety of presentations, including seizures (either acute onset or a chronic seizure disorder), headache, neurocognitive deficits, and psychiatric symptoms, including psychosis. Focal deficits that involve gross motor skills, fine motor skills, and sensory function are also seen ²⁰⁾.
• Constitutional symptoms are uncommon in patients with large-medium vessel disease but can be present in a minority of patients with small vessel disease. These may include fever, fatigue, and flulike symptoms. In general, such systemic symptoms should prompt investigation for infection or other secondary cause of CNS vasculitis.
• Eliciting features of systemic inflammatory disease that exclude the diagnosis of primary CNS vasculitis is important. These may include rashes, arthritis, respiratory symptoms, urinary abnormalities, and gastrointestinal symptoms among others.

CNS vasculitis complications

CNS vasculitis can harm the brain.

The inflammation caused by CNS vasculitis can harm the brain. When they are inflamed, the walls of the blood vessels get thicker and the space inside them gets smaller. This means that less blood can flow through them. Parts of the brain get less blood than they need. Sometimes they get no blood at all. When this happens, two major problems can result:

• Brain tissue around the inflamed blood vessel becomes irritated or damaged. This is also called brain inflammation.
• Brain tissue around inflamed blood vessels does not get enough oxygen. This can cause a stroke.

Complications related to disease, such as ongoing seizure disorder, may be noted. Flare of the disease is possible even while receiving therapy. The neurological signs that accompany this may be subtle, and repeating neuroimaging to ascertain the presence of new lesions on MRI or conventional angiography is often necessary. This may require increasing current immunosuppression or the institution of a different immunosuppressive medication to induce remission.

CNS vasculitis diagnosis

Diagnosing CNS vasculitis poses a challenge for physicians. Many of the key symptoms of CNS vasculitis are shared by other diseases and infections, so these “mimics” must be ruled out. There is no single diagnostic test for CNS vasculitis, so your doctor will consider a number of factors, including a detailed medical history, a physical examination, laboratory tests, and specialized imaging studies. A biopsy of tissue from blood vessels in the brain or spine is usually required to confirm a diagnosis.

If CNS vasculitis is suspected, your doctor will likely order the following tests:

• Lab work: Blood tests are frequently normal in PACNS vasculitis, but may be abnormal if reflecting another underlying disease.
• Examination of the spinal fluid: A sample of the cerebrospinal fluid (which surrounds that brain) is removed through a spinal tap and analyzed for infection and signs of inflammation.
• Diagnostic imaging: Computed tomography (CT) scans and magnetic resonance imaging (MRI) produce images that can help identify abnormalities of the brain, spinal cord, blood vessels, and other organs and tissues.
• Cerebral angiogram: An angiogram detects blockages of blood vessels using X-rays taken during the injection of a contrast agent.
• Biopsy: This surgical procedure removes a small tissue sample from a blood vessel or an affected organ, which is examined under a microscope for signs of inflammation or tissue damage. Because other conditions can cause similar brain vessel abnormalities as CNS vasculitis, a brain biopsy may be the only way to make a definitive diagnosis.

Medical history and physical exam

First, the doctor will ask about your child’s symptoms and medical history. The doctor will do a physical exam to see if your child has any symptoms of brain inflammation.

Blood sample and spinal tap

Next, the doctor will take samples of your child’s blood and cerebrospinal fluid (CSF). CSF is the fluid that surrounds the brain and spinal cord. To get a sample of CSF, your child will need to have a spinal tap (lumbar puncture).

Your child’s blood and CSF will be tested to see if they contain certain substances that can show if your child has inflammation somewhere in the body.

MRI scan

Next, the doctor will order an MRI scan. This test makes special pictures of the brain, using radio waves and a strong magnet. The doctor will look at these pictures to see if your child’s brain has either of these:

• areas of brain inflammation
• areas where not enough blood is flowing (ischemia or stroke)

Angiograms

If the MRI shows problems, the doctor will order two kinds of angiogram. An angiogram is a test that gives pictures of the large blood vessels. The two types are as follows:

• A magnetic resonance angiogram (MRA) uses the same machine as an MRI. It gives a 3-dimensional picture of the large blood vessels.
• An X-ray angiogram gives a picture of the large blood vessels. Your child will have a special dye injected into his blood. This dye is called contrast fluid. It helps blood vessels show up on the X-ray.

Angiograms will show if your child has large vessel CNS vasculitis. But they do not show the small blood vessels. So even if these tests do not show any problems, your child could still have small vessel CNS vasculitis.

Brain biopsy

The only way to find small vessel CNS vasculitis is with a test called a brain biopsy. A neurosurgeon will take a tiny sample from your child’s brain. The sample is only the size of a needle. Another doctor will look at it under a microscope.

This test will show if your child has small vessel vasculitis. It can also help tell CNS vasculitis apart from other diseases, such as infections or brain tumors.

A major mimic of CNS vasculitis

Reversible cerebral vasoconstriction syndrome refers to a group of conditions that involve spasm of the brain vessels, and that mimic CNS vasculitis. Reversible cerebral vasoconstriction syndrome features sudden, severe headaches, as well as strokes or bleeding into the brain. It is essential for clinicians evaluating patients to be aware of reversible cerebral vasoconstriction syndrome and to distinguish it from CNS vasculitis, given the differences between the two diseases, including the treatment and prognosis.

CNS vasculitis treatment

CNS vasculitis is typically treated with a high-dose corticosteroid, such as prednisone, to reduce inflammation. For more severe cases, prednisone is used in combination with drugs that suppress the immune system’s response, such as cyclophosphamide, mycophenolate mofetil or azathioprine. Treatment may be aggressive for the first six months and then tapered down as symptoms improve. A full course of treatment takes about two years.

The treatment of CNS vasculitis aims to do these things:

• improve the blood supply to the brain
• prevent further complications
• prevent blood clots from forming

CNS vasculitis is treated with medicine that stops the immune system from working so hard. This stops the inflammation and protects the brain. Your child will also need to take medicine to prevent blood clots.

Your child will need to take different kinds of medicine for CNS vasculitis:

• Medicine to suppress the immune system and reduce the inflammation in the blood vessel walls. This includes prednisone, cyclophosphamide, azathioprine and mycophenolate mofetil.
• Medicine to make the blood thinner and prevent blood clots. This includes low-dose ASA (acetylsalicylic acid) and heparin.

Your child will be taking these medicines for many months. You need to know about them and about the side effects that your child may have. These are described in more detail below.

If you are worried about any side effects, talk to your child’s doctor.

In addition to medication, other forms of treatment may include physical, occupational or speech therapy. If memory is affected, brain activities that enhance memory may be recommended.

Heparin

Children with large vessel CNS vasculitis often take intravenous (IV) heparin at first. Intravenous means your child will take this medicine through a needle or a tube that puts it directly into their bloodstream.

Later, your child may take low molecular weight heparin (LMWH). This medicine is given with a needle under your child’s skin.

Acetylsalicylic acid (ASA)

If your child has large vessel CNS vasculitis, they will also take ASA (acetylsalicylic acid) for the whole time they are being treated. ASA makes your child’s blood thinner. This helps your child’s blood travel through the blood vessels.

Your child will take a very low dose of ASA, between 2 and 5 mg per kilogram of body weight per day. At this dose, ASA has no major side effects. Some children may have an upset stomach.

Prednisone

Prednisone is a drug that suppresses the immune system. This means that it lowers the number of immune cells that are attacking your child’s blood vessels. When your child takes prednisone for a long time, the immune system is able to “reset” itself and make a new set of healthy immune cells. The new immune cells will not attack your child’s body.

Your child will be taking a high dose of prednisone to start with. As the treatment goes on, the doctor will lower the dosage.

Your child needs to take the amount of prednisone that the doctor prescribes. This is very important. If your child is taking high doses of prednisone and then suddenly stops, your child’s body will not be able to adjust to the change.

The side effects of prednisone are not pleasant, but there is no other way to treat CNS vasculitis. The effects are stronger at higher doses and with longer courses of treatment. The main side effects are:

• weight gain
• more risk of getting infections
• hair growth
• stretch marks
• acne
• mood swings
• upset stomach
• higher blood pressure
• higher blood sugar
• thinning bones (osteoporosis)

These side effects are all temporary. They will go away as soon as your child stops taking the prednisone.

Cyclophosphamide

Cyclophosphamide also suppresses the immune system. It slows down or stops the growth of immune system cells. Your child will take cyclophosphamide once a month through an IV tube.

Cyclophosphamide is also used to treat some kinds of cancer. But we use much lower doses for CNS vasculitis. This means that CNS vasculitis patients have fewer side effects than cancer patients.

For children with CNS vasculitis, cyclophosphamide has three main side effects:

• more risk of getting infections
• more risk of bleeding
• upset stomach and vomiting (throwing up)

A very large dose of cyclophosphamide can make it hard for girls or boys to have children later on. We will watch your child’s treatment to make sure they do not reach this dose.

Azathioprine (Imuran)

Azathioprine also suppresses the immune system. It stops immune system cells from dividing.

Common side effects include:

• stomach upset
• diarrhea
• allergic reactions
• a flu-like illness
• liver irritation

To watch for problems, your child will need a blood test every month.

Some people cannot remove azathioprine from their bodies. Before your child starts taking this medicine, they will need a blood test to find out if they can take it safely.

Mycophenolate mofetil (Cellcept)

Mycophenolate mofetil (MMF) also suppresses the immune system. It stops immune system cells from getting overactive.

The most common side effect is stomach upset. To prevent this, your child should take the medicine with food.

A more serious side effect is when mycophenolate mofetil stops the body from making white blood cells, red blood cells and platelets. To watch the levels of these blood cells, your child will need regular blood tests.

Medication side effects

The medications used to treat CNS vasculitis have potentially serious side effects, such as lowering your body’s ability to fight infection, and potential bone loss (osteoporosis). Side effects of prednisone, such as weight gain, susceptibility to infection, hypertension, and osteopenia, can be seen with the prolonged course of corticosteroids that are a mainstay of treatment. Therefore, it’s important to see your doctor for regular checkups. Medications may be prescribed to offset side effects. Infection prevention is also important. Talk to your doctor about getting a flu shot, pneumonia vaccination, and/or shingles vaccination, which can reduce your risk of infection.

Preventing infection during treatment for CNS vasculitis

The medicines for CNS vasculitis make the immune system less active. This means your child is more likely to get sick if they come in contact with germs. To help keep your child and family healthy:

• Wash hands often.
• Stay away from anyone with an illness that is catching.
• Keep all family members’ immunizations up to date.

Remember, your child’s immune system is still working. Your child does not need to “live in a bubble.” Your child can still have a normal lifestyle and stay healthy.

Do not be afraid to ask your child’s doctor if you have any questions.

Immunizations

While your child is being treated for CNS vasculitis, they should not take live vaccines. One common live vaccine is the MMR (measles, mumps and rubella) vaccine.

Ask your doctor which immunizations are safe for your child to have.

Diet

• A healthy diet with low fat and sodium intake is appropriate when a patient begins corticosteroid treatment.
• Adequate intake of calcium and vitamin D, with supplementation when necessary, is essential when children are treated with corticosteroids.

Further outpatient care

Ongoing close follow-up with a multidisciplinary team is important in primary CNS vasculitis of childhood. The particular needs of each patient should be identified and addressed as they arise during treatment. These may include educational support for reintegration in school, adequate seizure control, and emotional support of the family, among others.

• In both small vessel disease and large-medium vessel disease, MRI should be repeated at 3 months and 6 months following disease onset to study the changes in parenchymal brain lesions. In large-medium vessel disease, little improvement in the vessel anatomy may be observed until 6 months after diagnosis, at which time conventional angiography should be performed. Of course, should clinical symptoms change or disease progression be suspected, early imaging is appropriate.
• Once a diagnosis of small vessel disease is confirmed by biopsy findings, further biopsies do not need to be performed.
• The involvement of psychiatrists to assist with behavioral symptoms secondary to inflammatory brain disease is often necessary; psychiatric medication may be needed.
• Serial cognitive assessments with the Pediatric Stroke Outcome Measure are a useful way to quantify deficits.
• Annual neuropsychological assessments for evaluation of cognitive deficits and identification of assistance needed in school should be performed.
• Structured quality-of-life assessments using standardized questionnaires can provide insight into the impact of disease on a child’s daily life.

Your child will be monitored during treatment

MRIs and angiograms

Your child will have MRI tests often during treatment. Your child may also have angiograms. These tests help doctors see how the blood vessels are healing. This lets them make sure your child is getting the right amount of medicine.

Blood tests

Your child will have regular blood tests to see how the medicine affects her immune system. The goal is to keep your child’s immune system low enough to stop it attacking the blood vessels, but not so low that your child is at risk for serious infections.

Tests of thinking and learning

When your child is diagnosed with CNS vasculitis, a psychologist will test her thinking and learning skills. Your child will be tested again every year to see if there are any changes. If necessary, the psychologist will work out a plan so that your child’s school can help her learn better.

Your observations

Probably the most important way to monitor CNS vasculitis is through what you notice about your child. Your child will come for regular clinic visits. At these visits, the doctor will ask you and your child about any changes in behaviour that you have noticed at home or at school.

Here are some examples of things to watch:

• mood
• attention span
• ability to perform daily tasks at home and at school

Remember, you know your child best. If anything seems unusual or important, mention it to your doctor.

CNS vasculitis relapse

Even with effective treatment, relapses are common for individuals with CNS vasculitis. If your initial symptoms return or you develop new ones, report them to your doctor as soon as possible. Regular check-ups and ongoing monitoring of lab and imaging tests are important in detecting relapses early.

Living with CNS vasculitis

Living with a chronic disease such as CNS vasculitis can be overwhelming at times. Fatigue, pain, emotional stress and medication side effects can take a toll on your sense of well-being, affecting relationships, work and other aspects of your daily life. Sharing your experience with family and friends, connecting with others through a support group, or talking with a mental health professional can help.

CNS vasculitis prognosis

There is no cure for CNS vasculitis at this time, however it is treatable. Early diagnosis and treatment are essential to prevent potentially life-threatening loss of brain function or stroke. Other diseases often have the same symptoms as CNS vasculitis, so accurate diagnosis involves ruling out these conditions. Even with treatment, relapses are common with CNS vasculitis, so follow-up medical care is essential.

With early recognition and prompt treatment, prognosis can be excellent ²¹⁾. Neurological recovery may take place over months, during which time physical therapy, occupational therapy, speech language therapy, appropriate schooling, and seizure control should be continued. Families of patients affected with primary CNS vasculitis should be prepared for a prolonged rehabilitation period.

Scientists do know that children’s brains have more ability than adults’ brains to “rewire” themselves. This means they can sometimes find new pathways to replace a damaged area. Although many patients exhibit complete neurological recovery, deficits may remain after completion of treatment. This may include focal and diffuse neurological deficits and behavioral and cognitive symptoms.

Orchidopexy

An orchidopexy is an operation for undescended testicles (also called cryptorchidism). An undescended testicle means that the testicle has not dropped down to its normal place in the scrotum. It is necessary for your child to have surgery to relocate the testicle to the scrotum and fix it into place to keep it in the correct position. Your son may need to have this operation on unilateral orchidopexy (one testicle) or bilateral orchidopexy (both testicles).

Orchidopexy operation usually does not require an overnight stay at the hospital. Boys will have to avoid strenuous activity for a few days after the operation. Parents will have to clean and change the bandage at the incision site.

Normally before a baby boy is born, the testicles move into the scrotum (the sac that holds the testicles).

The undescended testicle can usually be palpated in the inguinal canal. In a minority of patients, the missing testicle may be located in the abdomen or be nonexistent.

Undescended testicles are associated with decreased fertility (bilateral cases), increased testicular germ cell tumors (overall risk under 1%), testicular torsion, inguinal hernias, and psychological problems ¹⁾.

Infertility

Men with undescended testes may have reduced fertility, even after orchiopexy ²⁾.

• The infertility rate for unilateral cases is not believed to be very different from the general population.
• The fertility reduction after orchiopexy for bilateral cryptorchidism is about 38%. This is the basis for the universal recommendation for early surgery due to degeneration of spermatogenic tissue and reduced spermatogonia counts after the second year of life in patients with untreated undescended testes.

Psychological consequences

Boys with undescended testicles do not tend to be effeminate, gender-disordered, or pre-homosexual. A disturbed self-image may occur when the family dynamics are destructive toward male self-esteem. When cryptorchism is surgically corrected, a healthy masculinity generally occurs.

Testicular cancer

Overall, the risk of testicular cancer if orchiopexy is done before puberty is around 2 to 3 times that of the general population. It is 5 to 6 times higher when orchiopexy is done after puberty. The risk of cancer does not seem to be different when orchiopexy is done early in infancy compared to later in childhood ³⁾.

• The most common type of testicular cancer in untreated undescended testes is seminoma.
• The peak age range for this tumor is 15 to 45 years.
• In contrast, after orchiopexy, seminomas represent only 30% of testicular tumors in previously undescended testes.
• It is treatable if caught early, so boys who had an orchiopexy as infants should be taught testicular self-examination.

Without surgical correction, an undescended testicle may descend during the first three months of life. To reduce risks, undescended testes may be brought into the scrotum with an orchiopexy.

Cryptorchidism, hypospadias, testicular cancer, and poor semen quality make up testicular dysgenesis syndrome. This syndrome is thought to be due to harmful environmental factors that disrupt embryonal programming and gonadal development during fetal life.

Figure 1. Male reproductive system

Figure 2. Testis anatomy

What happens during the orchidopexy operation?

Your child will be given a special “sleep medicine” called a general anesthetic. This will make sure that he sleeps during the operation.

The doctors will make a small incision (cut) in the area at the top of your child’s leg, called the groin. They will gently move your son’s testicle into the scrotum. If both testicles need descending, there will be two incisions, one on each side of the groin.

The orchidopexy operation usually takes about one hour per testicle.

Usually an orchidopexy is an out-patient operation. This means the operation is done on the day that your child comes to the hospital. Your son will have to spend a few hours waking up from the surgery. Your son can probably go home after the operation. He will not stay in the hospital overnight.

Orchiopexy technique

For palpable undescended testes, an inguinal or scrotal orchiopexy is recommended ⁴⁾.

1. An incision is made in the high scrotum, median scrotal raphe, high edge of the scrotum, or groin. Many different type of retractors can be used depending of the size of the incision. Inguinal incisions can be as small as 1 cm. Scrotal incisions can be larger as they tend to heal concealed specially when in the median raphe.
2. The testis can be approached first or the cord first; for scrotal cases, the testis is found first. For an inguinal approach, the testis can be approached first or the external oblique fascia opened proximal to the external ring and the cord approached first.
3. When approaching the testis first, all the cremasteric muscles are divided as well as everything not going into the external ring.
4. The more difficult part of the case is separating the hernia sac from the vas and testicular vessels. This can be approached anteriorly or posteriorly. The posterior approach is much easier to teach and learn.
5. How the testis is positioned and secured in the scrotum varies. Most would agree that a sub-dartos pouch is desirable. Some surgeons do not suture the testis in place, others use absorbable sutures, others non-absorbable, and others just close the passage into the groin.

For nonpalpable testes under anesthesia, exploratory laparoscopy is recommended. If a testis is found during exploratory laparoscopy, the options are ⁵⁾:

1. Laparoscopic orchiopexy preserving the vessels: the testis is dissected off a triangular pedicle containing the gonadal vessels and the vas deferens.
2. Laparoscopic one stage Fowler Stevens orchiopexy: gonadal vessels are divided and the testis is dissected off a pedicle of the vas and brought down in one stage.
3. Laparoscopic two stage Fowler Stevens orchiopexy: vessels are divided with clips but dissection of the testis is postponed for 6 months to allow for optimal development of collaterals.

If no testis is found during exploratory laparoscopy, one has to determine the presence of either blind ending vessels or a testicular nubbin to completely rule out a missing testis. The vas can be dissociated from the testis and thus is not always a good guide to find the gonad ⁶⁾.

If the internal ring is closed but vessels are going into it, a scrotal exploration usually will find a testicular nubbin. Look for a small structure with a brown spot.

If vessels are going into an open inguinal ring, one can usually push the testis into the abdomen but if not, an inguinal or scrotal exploration would be warranted.

Caring for your child at home after the orchidopexy operation

Pain relief

Your son will probably feel soreness in his groin for the first few days after the operation. Your child’s doctor may prescribe codeine for the pain. You can also give your child acetaminophen or ibuprofen for pain. Give him this medicine exactly as your doctor tells you.

Signs your child is in pain

Older children can usually tell you if they have pain. In younger children, look for these signs of pain:

• a lot of fussiness
• increased sweating
• pale skin color
• refusing to walk or trouble walking
• unusually quiet behavior

Taking care of the stitches

Your son will have a bandage over the incision site or sites. These bandages cover the stitches. You may see a small amount of blood on the bandage. This is normal. The bleeding will gradually stop. Keep the incision area dry and clean. Shower or shallow tub bathing are OK. Do not put the incision or dressing under the water for 2 weeks.

After a few days, you can soak the bandage off in the bathtub.

Once the bandage has been removed, clean the incision site twice a day. The nurse will give you instructions on how to do this.

• Using a clean wet cloth, gently pat the incision site clean.
• Put an antibiotic ointment such as Polysporin lightly over the stitches for one week. An antibiotic ointment is a special cream that kills germs. You can buy antibiotic creams at the pharmacy without a prescription.
• The stitches will dissolve and do not need to be removed.

If your child is still in diapers, you should change them when they are wet. Leave the diaper off for about 30 minutes every day. If your child is older, he can eat his regular food. Your child should have a bowel movement (poop) every day.

Food and Drink

For Children:

• Continue with water, clear fruit juices or popsicles. If the child has no trouble with these, you can slowly begin to give solid foods.

For Infants:

• Infants may have clear liquids such as water, Pedialyte® or watered-down apple juice (mix half water and half juice) or breast milk. If your infant has no trouble with these, he may have regular formula or continue with breast milk. Infants may need to be burped more often than usual the first day after surgery.

Your child’s activities

Your child should avoid certain activities that might harm the incision until after his check-up in the clinic. These activities include:

• strenuous activities
• contact sports such as football or hockey
• riding a bicycle

After a few weeks, your child will be able to resume all his normal physical activities.

Follow-up care

Your child will need a check-up at the clinic. Staff at the hospital will make an appointment for your son to come in for a check-up to make sure he is getting well. If you are not given an appointment, ask.

When you suspect a problem

Talk to a doctor if you have any concerns. Call your child’s surgeon, the doctor who did your child’s operation.

Orchidopexy operation risks

Risks for any anesthesia are:

• Reactions to medicines
• Problems breathing

Risks for any surgery are:

• Bleeding
• Infection

Risks for orchidopexy surgery include:

• Shrinkage of the testicle or failure of the testicle to grow to normal size.
• Inability to bring the testicle into the scrotum, resulting in the removal of the testicle.

Mitrofanoff

Mitrofanoff also called appendico vesicostomy, is a surgical procedure that creates a channel or tunnel from the bladder to outside the body on a child’s belly through which a child can urinate (pee) by using a catheter (putting a small tube into the new channel or tunnel) ¹⁾. The new channel or tunnel is made from the appendix. It connects the bladder to a small hole created in the belly button or in an area in the lower belly. This way, children can empty their bladders by catheterizing through the new tube instead of using the urethra (the tube that pee normally goes through when it leaves the body). Mitrofanoff procedures require a stay of 4 to 7 days at the hospital.

During the surgery, the appendix is cut away from the intestine but not from its blood supply. The surgeon sews one end of the appendix to the back side of the bladder. The other end of the appendix is then pulled up and attached to the belly. A small hole is made on each end of the new tube (one on the belly or in the belly button, one in the bladder) so that children can put in a catheter through the opening on their belly or belly button to empty the bladder.

There are two possible ways the surgery may be done:

1. Open surgery – A small cut (a couple of centimeters wide) is made in the lower belly. The skin is pulled aside so the surgeon can see and work directly on the child. This is the only surgical technique used in many hospitals. However, Nationwide Children’s Hospital reserves open surgery only for patients who are not good candidates for minimally invasive surgery.
2. Robotic surgery – Several tiny cuts (several millimeters wide) are made in the belly. The surgeon uses a computer to control the robotic arms, which move small tools underneath the skin to do the operation.

The Mitrofanoff procedure is often done at the same time as other operations. Mitrofanoff operation is usually onlydone as part of another procedure, in particular:

• when enlarging your bladder with a bowel patch (enterocystoplasty);
• when a neobladder (new bladder) has been fashioned from bowel after removal of your bladder for cancer.

There are many reasons a child may need a Mitrofanoff, such as:

• Birth defects
• Injury
• Cancer
• Trouble or pain with using a catheter through the urethra. The urethra is the tube that normally carries urine (pee) out of the bladder.
• Spina bifida and myelomeningocele
• Spinal cord injuries
• Neurogenic bladder or non-neurogenic neurogenic bladder (Hinman syndrome).

Why is the Mitrofanoff urinary diversion done?

The Mitrofanoff procedure is done for children who can not urinate on their own. Many of these children use traditional catheters before surgery. These catheters are inserted through the urethra, the normal place pee exits the body. However, catheters through the urethra can cause pain in boys and may be difficult for girls to put in because of their anatomy. Girls who use wheelchairs are often not able to put in a catheter unless they sit on a toilet, which can make them less independent.

In some cases, children for whom it is difficult to catheterize through the urethra may stay in diapers. In others, the sphincter muscles do not work well and the child continues to leak into a diaper. Diapers can become socially uncomfortable for children as they age. The smell of urine and its impact on the skin and any wounds in the diaper area can lead to low quality of life.

After a Mitrofanoff procedure, children can empty their bladders without diapers, without needing to transfer to a toilet, and without catheterizing through the urethra. This makes it easier and more comfortable for many children to empty their bladders. They can stay dry between catheterizations. In the case of many wheelchair users, it allows more independence, since children can catheterize themselves through the opening on their belly or in their belly button.

Mitrofanoff procedures are often done for children with:

• Spina bifida and myelomeningocele
• Spinal cord injuries
• Neurogenic bladder or non-neurogenic neurogenic bladder (Hinman syndrome)
• Birth defects
• Injury
• Cancer
• Trouble or pain with using a catheter through the urethra. The urethra is the tube that normally carries urine (pee) out of the bladder.

What are the alternatives to Mitrofanoff urinary diversion?

• Intermittent self-catheterization in men-or in women
• Urostomy– diverting your urine straight on to the surface of your abdomen (tummy) so that it drains into a bag

Mitrofanoff urinary diversion procedure benefits

Mitrofanoff procedures allow intermittent urinary catheterization – once every few hours. This offers a lower risk of infection than a permanent (indwelling) catheter and allows one to not leak urine continually like an ileovesicostomies, which drain from a hole (stoma) in the belly into a bag.

After mitrofanoff, children do not have to wear diapers and can stay dry between catheterizations. They can often empty their bladders independently and without transfer to a toilet. The opening in the belly is very small; most are hard to see even when looking at the belly. All of these characteristics of the Mitrofanoff procedure may help it improve children’s quality of life.

Preparing for the Mitrofanoff urinary diversion operation

The Mitrofanoff procedure is not an emergency surgery. Your surgeon will schedule the operation in advance. Before any operation, patients often have to do specific things to prepare. Staff at the hospital will tell you what you need to do before the operation. They will give you a brochure or pamphlet to read. If you do not get this information, ask. If you have more questions after reading the pamphlet, ask.

Because the surgeon will cut out your child’s appendix, it is important to make sure that your child’s bowel is as clean as it can be before the operation. Getting the bowel as clean as possible means restricting what your child eats and having enemas.

Eating and drinking

For two to three days before the operation, your child should only have clear fluids to drink. Clear fluids are liquids you can see through, like water, apple juice, ginger ale, Sprite, Jello and freezies. Your child cannot have anything else to eat or drink.

• Write the date of your child’s operation.
• Write the date your child must start having only clear fluids.

Enemas

Your child will need to have several enemas. An enema means that a small tube is put into your child’s anus and water is flushed inside. Then, your child will go to the bathroom and expel the water and feces (poop) from the bowel. Usually, enemas are a bit uncomfortable but they do not hurt.

Mitrofanoff urinary diversion operation

The day of the operation, your child will be pre-admitted at the Urology Unit. Your child can have only clear liquids to drink.

Your child will be given another enema.

Your child will be given a special “sleep medicine” called a general anesthetic during the operation. This means that your child will sleep and will feel no pain during the procedure.

Mitrofanoff surgery usually takes about two to six hours. Your surgeon will speak to you about this before the surgery.

After the Mitrofanoff urinary diversion operation

When your child goes back to the Urology Unit from the operating room, they will have an intravenous line (IV). An IV is a tiny plastic tube that is placed in a vein in the hand or arm. For the first few days after the operation, your child will get the liquids and medicines they need through the IV.

Your child will may also have some of the following.

• Nasogastric tube. Your child will have a nasogastric tube. The tube usually stays in place for about one week. Your child’s stomach must stay empty and have a chance to rest after the operation.
• Suprapubic catheter. Your child will have a suprapubic catheter after the operation. This catheter is a small tube that goes through the skin of the belly into the bladder. All the urine that would normally be stored in the bladder drains out through this tube and into a bag called a urine collection bag. This catheter will be taken out at the urology clinic, usually about one week after the Mitrofanoff operation. Your child will not need an operation to take out the catheter.
• Stents. Your child may have ureteral stents. These are small plastic tubes that sit in the ureters. The ureters are the tubes between the kidneys and the bladder. The ureteral stents let all the urine drain from the kidneys and give your child time to heal. Your child will need an operation to take out the stents, usually six to eight weeks after the Mitrofanoff operation.
• Urinary catheter. Your child will have a urinary catheter inside the Mitrofanoff. It may or may not be attached to a urine collection bag.

Incision, stitches and gauze

Your child’s incision will be closed with stitches. The incision is the place where the surgeon cuts through the skin to operate. The stitches will dissolve about 10 days after the operation.

The incision and the stitches will be covered with white gauze. The nurse will change the gauze every day.

Penrose drain

A drain called a Penrose drain may be placed in your child’s belly, close to the incision. It takes away the extra liquids that may collect during the operation. This drain looks a lot like a thick elastic band. It will be stitched in place and covered with a piece of gauze.

Your surgical team will take out this drain before your child goes home.

Managing your child’s pain

There are several ways to control pain that work well. Which way we use will depend on your child’s age and needs.

• Your child may get medicine for pain through the IV.
• Your child may have an epidural catheter. An epidural catheter is a small plastic tube that an anesthesiologist puts into a space in the spine. (The anesthesiologist is the doctor who gives sleep medicine to take away the pain.) The catheter is put in in the operating room. This catheter lets your child have medicine for pain all the time. The epidural catheter works well because it numbs the body below the incision.
• Once your child feels better, they can swallow their pain medicine.

Bladder spasms treatments

Catheters and stents may bother the bladder and cause cramps, called bladder spasms. Sometimes bladder spasms can hurt a lot. If your child has painful bladder spasms, they will be given a medicine called a B&O suppository. This medicine relaxes the bladder and reduces the pain.

Symptoms of bladder spasms

Signs that your child is having bladder spasms may include:

• pain that comes on quickly and then stops
• an itchy bottom
• the need to urinate or have a bowel movement (poo) often
• your child holding or rubbing their genitals (private parts) more than usual
• urine leaking around the catheter
• drawing the knees up to the chest, especially in babies and toddlers

The nurse will check your child’s pain control regularly. But you know your child best. The nurse will want to know if you think your child’s pain is being controlled well. If you feel your child is in pain, tell the nurse.

Getting active again

Right after the operation, your child will have to stay in bed all day and all night. Your child may not be allowed to sit up for one or two days. While your child is lying in bed, they should try to do these things:

• take deep breaths and cough
• exercise their legs
• roll from side to side

The nurse will help.

The doctor will decide when your child is ready to get out of bed. Your child will have to become active slowly. Your child can start by sitting in a chair. Then they can slowly start to walk when they are ready.

Eating and drinking after the operation

Your child’s bowel needs to rest after the operation. So your child will not be able to eat or drink for a while. When they begin to feel grumbling in the stomach and passes gas, the doctor will take out the nasogastric tube.

Your child will be allowed only clear liquids at first. They can eat normal food after a few days.

Your child must drink as much liquid as possible. This will help the catheters drain well.

What can I expect when my child get home?

• you must leave the catheter through your Mitrofanoff channel in place, even if it is not draining urine
• you will usually be discharged with one or two catheters in your bladder
• your surgical team may instruct you to flush the catheters to keep them draining well
• you should check daily that your catheters are draining normally
• if they block with mucus plugs, they must be flushed out and unblocked as soon as possible
• your doctor will arrange for your stitches or clips to be removed seven to 10 days after the procedure
• a follow-up appointment will be made for you to have your catheter(s) removed after two to three weeks; your doctor often do a cystogram (a dye X-ray of your bladder) before removing your catheter(s) to make sure everything has healed
• you may see blood in your urine for up to a month after the procedure
• women may see some vaginal discharge over the same period of time
• you will need at least six weeks off work, longer if your job is physically strenuous
• you should not have sexual intercourse for four weeks
• you should avoid straining or heavy lifting for six weeks
• you will be given a copy of your discharge summary and a copy will also be sent to your family doctor
• any antibiotics or other tablets you may need will be arranged and dispensed from the hospital pharmacy

Once everything has healed completely, your doctor will remove the catheter in your Mitrofanoff channel and teach you how to pass a similar catheter in and out to empty your bladder/neobladder. If you have any difficulty with this at home, you should contact your surgical team.

Follow-up care after a Mitrofanoff urinary diversion procedure

Your child’s catheters must stay in place for 3 to 4 weeks after the surgery. This allows the swelling to go down and the cuts and new tube to heal. You will have to return to the hospital for a nurse to remove the catheters. You and your child will also receive training from a nurse to learn how and when to catheterize using the new tube through the belly button. The nurse will provide some initial supplies and connect you with resources for home shipping for supplies in the future.

About 1 month after the surgical catheters come out, your child will need a follow-up ultrasound to check for swelling in the kidneys. This will let the doctor know if the surgery worked to effectively drain your child’s urine. Your child will also need an ultrasound at least every year to keep checking kidney health.

You should also expect the following after the Mitrofanoff procedure:

• The cut skin is usually closed with internal, absorbable stitches and skin glue (except for the new hole on the belly where the but connects, which stays open). The stitches disappear on their own and do not require any special removal or care.
• Your child can wash by sponge bath for the 2 days following the surgery. After that, showers are acceptable. Once the catheters are removed, baths are also okay.
• The cuts and catheters may be sore for a few days or weeks.
• Gym class, strenuous activity and heavy lifting should be avoided until the catheter is removed.
• Wheelchair transfers can begin again about 2 weeks after the operation.
• Your child must rinse (irrigate) the bladder once a day. This will be part of your child’s new routine. The rinse helps clear out mucus made by the appendix tube. If your child does not rinse the bladder, he or she may get kidney stones or infections.

Learning to use the catheter and Mitrofanoff

When your doctor feels that everything has healed, they may decide to send your child home for a short time. Your child will have these two catheters:

• a catheter in the Mitrofanoff
• a suprapubic catheter

The nurse will teach you how to look after your child’s catheters at home before you leave the hospital.

Before you go home, we will arrange for a home care nurse to visit you at home. This nurse will help you and your child look after the catheters in your home.

The doctor will decide when you should learn how to put a catheter into the Mitrofanoff to drain the urine. This is called catheterization. When you learn to catheterize the Mitrofanoff, your child will return to the hospital for a couple of hours. The nurse will teach you and your child how to do the catheterization.

Most young children who go to school can catheterize their Mitrofanoff on their own. Many children can help care for their own Mitrofanoff, even children who are not going to school yet.

Telling your child’s other doctors about the Mitrofanoff

Tell all doctors who take care of your child that they have a Mitrofanoff. Some doctors may not have heard of this before. You may have to explain it to them.

You should also tell the school nurse that your child has a Mitrofanoff.

Your child needs to wear a medic alert bracelet. Before your child leaves the hospital, the nurse will give you the forms to fill out to get this bracelet.

Mitrofanoff procedure risks

In general, the risks of the Mitrofanoff procedure include those of any surgery, such as infection, redness, swelling, bleeding, reactions to the anesthesia or failure of the operation. During surgery on the bladder, urine can also leak into other areas and cause some irritation.

Between 1 in 50 and 1 in 250 patients (your anaesthetist can estimate your individual risk): anesthetic or cardiovascular problems possibly requiring intensive care (including chest infection, pulmonary embolus, stroke, deep vein thrombosis, heart attack and death)

Mitrofanoff operations also carry several unique risks. Since the appendix is being partially detached and moved, there is a low risk of internal bleeding. It is possible that after a Mitrofanoff there may be problems catheterizing. Sometimes a different size catheter or more lubricant will solve the problem. The catheters put in place during surgery also make infections more likely than with other surgeries, but your child will receive a course of antibiotics during the recovery period to help avoid infections. The new hole in the belly may also leak. Finally, children who gain a lot of weight in the future may have problems catheterizing the opening.

The Mitrofanoff procedure has a high success rate. However, most children will eventually need another operation to adjust the appendix tube or fix problems, such as scarring that blocks the new opening to the belly. In many cases, these surgeries are minor and your child will not need an overnight stay at the hospital.

Mitrofanoff complications

The possible complications and your risk of getting them are shown below. Some are self-limiting or reversible, but others are not. We have not listed very rare after-effects (occurring in less than 1 in 250 patients) individually. The impact of these after-effects can vary a lot from patient to patient; you should ask your surgeon’s advice about the risks and their impact on you as an individual:

• Risk between 1 in 2 and 1 in 10 patients, the Mitrofanoff channel narrows requiring either a catheter to be left in for two weeks or further surgery to correct the problem.
• Risk 1 in 10 patients (10%), the Mitrofanoff channel leaks urine requiring further surgery to correct it.
• Risk between 1 in 10 and 1 in 50 patients, wound infection requiring antibiotics or drainage of any retained infection.
• Risk between 1 in 10 and 1 in 50 patients, late scarring and narrowing of the Mitrofanoff channel requiring further surgery to re-fashion it.
• Risk between 1 in 10 and 1 in 50 patients, leakage of bowel contents or urine from the stitch lines on your bowel and bladder requiring further surgery.
• Risk between 1 in 10 and 1 in 50 patients, significant bleeding requiring further surgery.
• Risk between 1 in 50 and 1 in 250 patients, the catheter in the Mitrofanoff channel falls out requiring a further procedure to replace it or re-fashion the channel.

What is my risk of a hospital-acquired infection?

Your risk of getting an infection in hospital is approximately 8 in 100 (8%); this includes getting MRSA or a Clostridium difficile bowel infection. This figure is higher if you are in a “high-risk” group of patients such as patients who have had:

• long-term drainage tubes (e.g. catheters);
• bladder removal;
• long hospital stays; or
• multiple hospital admissions.

Fontan procedure

Fontan procedure is the the third-stage and final surgery to treat hypoplastic left heart syndrome (in children whose heart has only one main pumping chamber or ventricle), and usually happens between 18 months to 5 years of age. Fontan procedure requires open heart surgery in the operating room and your child connected to the heart-lung machine the same as Stage 2 (Hemi-Fontan or Glenn operation). During the Fontan procedure the inferior vena cava (IVC), a large vein that carries deoxygenated blood from the lower body into the heart, is disconnected from the heart and attached to the pulmonary artery directly. Blood will reach the lungs from the lower body by the inferior vena cava connection. After this operation, all of the deoxygenated blood from the body goes to the lungs without passing through the heart. After the final surgery is completed, the blood flow from the upper body will return to the lungs by the superior vena cava (SVC) connection. After the all the staged operations for single ventricle defects, the heart functions like a one-sided pump with two chambers. The heart no longer receives deoxygenated blood from the veins. Instead, this blood flows directly to the lungs. The heart receives oxygenated blood from the lungs and pumps it to the body. This is called Fontan circulation.

The Fontan procedure is done so that almost all the deoxygenated blood coming back from the body goes to the lungs. After this stage, most children are much “pinker” because now nearly all of the blood pumped out to the body goes to the lungs first. The Fontan procedure has allowed children with the most complex forms of heart disease to enjoy a mostly normal life.

The name of the procedure comes from the name of the doctor who was the first to describe this operation in 1971, Dr Francis Fontan ¹⁾. Fontan procedure improves blood flow from the lower body to the lungs, which further decreases the workload of the single ventricle and improves oxygen levels. Until now, blood low in oxygen from the lower part of the body has mixed with blood high in oxygen. During the Fontan operation, surgeons connect the veins from the body directly to the arteries to the lungs.

Frequent surveillance in infancy and early childhood is important to minimize risk factors for the eventual Fontan operation.

Your child will also need a customized series of diagnostic tests between the planned stages of surgery, and throughout childhood. Additional surgical or catheter therapies, or in rare cases heart transplantation, may also be recommended.

Figure 1. Hypoplastic left heart syndrome

Stage 1: Norwood procedure

The Stage 1 Norwood procedure, first described by Norwood et al. in 1979, has become the standard of care for neonates with hypoplastic left heart syndrome ²⁾. The Norwood procedure allows the right ventricle to become the systemic ventricle while the pulmonary flow is provided through a Gortex tube graft called a modified Blalock Taussig shunt (BT shunt). This stage usually requires the use of deep hypothermic circulatory arrest due to the abnormal aortic arch anatomy. This operation will occur within several days of birth. The purpose of Norwood procedure is to ensure that blood-flow is controlled enough to prevent damage to the heart and lungs, and that enough blood is reaching the lungs to keep the child alive until the second operation.

• The atrial septum is removed to allow free flow of oxygenated blood entering the left atrium from the pulmonary veins to reach the right ventricle
• A neoaorta is created by sewing the hypoplastic ascending aorta to the main pulmonary artery to provide a common outflow tract to the systemic circulation from the right ventricle.
• A systemic-to-pulmonary shunt (Blalock Taussig shunt) is created by connecting the right subclavian or innominate artery to the right pulmonary artery. This replaces the ductus arteriosus as the source of pulmonary blood. Consequently, prostaglandin E1 is no longer needed to maintain ductal patency ³⁾. The size of the shunt provides partial restriction to pulmonary blood flow and may reduce the incidence of pulmonary over circulation.

Depending on the type of heart defect, different surgical procedures may be used, including the Norwood procedure.

Figure 2. Norwood procedure

Stage 2: Hemi-Fontan or Glenn operation

The Hemi-Fontan or Glenn operation (Bidirectional Glenn), the second procedure usually occurs within 4-6 months months of birth. During this surgery the superior vena cava — a large vein that carries deoxygenated blood from the upper body into the heart — is disconnected from the heart and attached to the pulmonary artery. After this operation, deoxygenated blood from the upper body goes to the lungs without passing through the heart.

Both of these surgical procedures, the Hemi-Fontan or Bidirectional Glenn procedures, result in a decreased volume load on the right ventricle, thereby preventing right ventricular hypertrophy/increased wall thickness and potentially improving diastolic function ⁴⁾. The systemic venous return via the inferior vena cava (IVC) empties into the common atrium where there is a mixing of oxygenated and deoxygenated blood. Before this procedure, cardiac catheterization will be performed to document normal pulmonary artery pressures. Elevated pulmonary pressures would need to be corrected before proceeding with the second stage repair. After the second stage repair, the pulmonary and systemic systems are changed from a parallel circulation to a partial in series circulation ⁵⁾. The following are steps involved with each procedure:

Hemi-Fontan

• Systemic-to-pulmonary artery shunt removal (Blalock-Taussig shunt)
• Anastomosis between the superior vena cava and right atrial (RA) confluence and the central and branch pulmonary arteries to direct the superior vena cava blood to the pulmonary circulation
• Homograft patch augmentation of the central and branch pulmonary arteries
• Interruption of the superior vena cava blood from reaching right atrial using the homograft stopper ⁶⁾.

Bidirectional Glenn

• Systemic-to-pulmonary artery shunt removal (Blalock-Taussig shunt)
• End-to-side anastomosis of the superior vena cava to a branch pulmonary artery, typically right pulmonary artery ⁷⁾.

Hybrid procedure 2nd stage repair

• Superior cavopulmonary anastomosis (superior vena cava to pulmonary artery anastomosis) via Hemi-Fontan or Bidirectional Glenn
• Creation of a neoaorta, as described in the Stage I palliation, with aortic arch reconstruction
• Atrial septectomy
• Removal of the pulmonary artery bands and pulmonary arterioplasty if needed
• Removal or resection of the ductus/stent complex ⁸⁾.

Figure 3. Hemi-Fontan procedure

Figure 4. Fontan procedure

Summary

The Fontan procedure often is the only definitive palliative surgical option for patients with a variety of complex congenital heart conditions involving a single, dominant ventricle. Improved patient selection, patient preparation, and surgical techniques have led to improved outcomes, and many patients with Fontan circulation enjoy a high quality of life; however, there are many complications of the procedure such as exercise intolerance, ventricle failure, right atrium dilatation and arrhythmia, systemic and hepatic venous hypertension, portal hypertension, coagulopathy, pulmonary arteriovenous malformations, venovenous shunts, and lymphatic dysfunction. MR imaging is best for postoperative evaluation of patients with Fontan circulation, and cardiac transplantation remains the only definitive treatment for those with failing Fontan circulation.

Fenestrated fontan or no fenestration?

A fenestration is a communication between the channel carrying the deoxygenated blood to the lungs and the heart. It allows the passage of blood from the veins to the heart when the lungs are not functioning well. If the lungs are swollen such as during pneumonia, or soon after surgery, the blood will not flow passively very well through them, and there may not be enough blood going back to the heart. The heart could then not pump enough blood to the body and the patient may feel sicker than if they were just limited by their sick lungs. This fenestration is like a pop-up valve acting as a safety mechanism. It is known to be particularly useful soon after surgery.

​It is not yet known whether it is good or not to keep this fenestration open for a long time or not. Some believe that it improves the exercise capacity, and that because on peak exercise, some more blue blood will go to the heart, and the heart will then be able to pump more blood through the body. Others think that the heart will not function as well if the blood that the heart ejects is more blue (with less oxygen), and believe that the people will be able to exercise better with the fenestration closed. We hope that future research will be able to show whether Fontan patients would be better with, or without, fenestration late after surgery.

How does a normal heart function?

It is important to look at a normal heart and how it usually functions. Oxygen-poor (blue) blood returns to the right atrium from the body and travels to the right ventricle. It is then pumped through the pulmonary artery into the lungs where it receives oxygen. Oxygen-rich blood (red) returns to the left atrium from the lungs and passes into the left ventricle. The blood is then pumped out to the body through the aorta.

What is hypoplastic left heart syndrome?

Hypoplastic left heart syndrome is a congenital (present at birth) complex heart defect. Sometime around the first 8 weeks of fetal (unborn child) development, the heart did not develop properly. The term hypoplastic left heart syndrome means that most of the structures on the left side of the heart are small and underdeveloped.

With hypoplastic left heart syndrome these parts of the heart may be underdeveloped to some degree:

• Aortic arch
• Mitral and aortic valves
• Left ventricle

The exact cause of hypoplastic left heart syndrome is unknown. In the United States about 1,000 – 2,000 babies are born with hypoplastic left heart syndrome each year. Hypoplastic left heart syndrome occurs more often in males (67%). Without surgery the child with hypoplastic left heart syndrome will not survive.

Who needs a Fontan procedure?

Today, heart surgeons try to offer a Fontan procedure to all children who are born with abnormal hearts that cannot be repaired with two pumping chambers (ventricles).

​One pumping chamber, the left ventricle, pushes the blood to the body, and the other, the right ventricle, pushes the blood to the lungs. Sometimes, these children are completely missing a ventricle and have what is called a single ventricle. Often, there are two ventricles, but one of them is too small to be really useful. At times, there are two good ventricles with some holes, but the connections between the ventricles and the collecting chambers and/or the vessels going to and out of the heart is so abnormal that it is impossible to close these holes and use the two ventricles separately.

​After the Fontan procedure, all these children are said to have the heart functioning with a single pumping chamber, and we say that they have a “functional single ventricle”.

​There are many different conditions of the heart that necessitates a Fontan procedure. The most frequent ones are called:

• Tricuspid atresia,
• Hypoplastic left heart syndrome
• Unbalanced atrio-ventricular septal defect
• Double outlet right ventricle
• Double inlet left ventricle
• Pulmonary atresia with intact ventricular septum

Fontan procedure types

There are 3 different variations for the Fontan procedure that has evolved over time.

Figure 5. Fontan procedure types

Atrio-Pulmonary connection (AP Fontan)

The AP Fontan (AtrioPulmonary connection) also known as the “classical” Fontan procedure originally described by Dr Fontan, is the way the operation was performed initially. In this operation, the collecting chamber of the heart taking the blue blood without oxygen coming from the body (the right atrium) was isolated from the rest of the heart. An expansion of this cavity (the right atrial appendage) was then connected to the right pulmonary artery.

Figure 6. Atriopulmonary Fontan

Footnote: Pictures showing the anatomy of the original Fontan procedure, in which the SVC was connected to the right pulmonary artery (RPA) and the right atrium to the pulmonary artery. Abbreviations: LPA = left pulmonary artery.

Lateral Tunnel Fontan

After many years, it was observed that the right atrium of some of the children who had a Fontan operation was progressively dilating. This dilatation seems to be occurring because of the turbulences of the blood as it was arriving from the veins coming from the body into this collecting chamber. This dilatation was annoying, because it was responsible for the formation of clots in the heart, and some of these patients had fast heart rates that made them sick.

​A new design of the operation was then performed. In this operation commonly known as the “lateral tunnel fontan” or also “total cavo-pulmonary connection”, the vein draining the blood from the upper part of the body (the superior vena cava) was attached to the upper part of the right lung artery and the collecting chamber was attached to the underside of this same right lung artery. A half tube of artificial material was then sutured inside the collecting chamber to direct the blood coming from the lower part of the body in what looked much more like the inside of a cylinder inside the heart. The lateral tunnel fontan operation was designed so that this tube inside the heart would still have some potential for growth.

Figure 7. Lateral tunnel fontan

Footnote: Images showing the intraatrial method of creating cavopulmonary Fontan circulation, in which an intraatrial conduit connects the IVC to the right pulmonary artery (RPA).

Abbreviations: AA = ascending aorta, LPA = left pulmonary artery.

Extra-Cardiac Conduit Fontan

In Extra-Cardiac Conduit Fontan operation the superior vena cava is also, like in the Lateral Tunnel Fontan operation, connected to the right lung artery, but the vein coming from the lower part of the body (the inferior vena cava) is connected to an artificial (e.g. gore-tex) tube. The other end of this tube is then connected to the underside of the right lung artery. Extra-Cardiac Conduit Fontan operation was designed to try to have the best possible flow from the veins into the lung.

Figure 8. Extra-Cardiac Conduit Fontan

Footnote: Pictures showing the extraatrial method of creating cavopulmonary Fontan circulation, in which an extraatrial conduit connects the IVC to the right pulmonary artery (RPA).

Abbreviations: AA = ascending aorta, LPA = left pulmonary artery.

How does the Fontan procedure work?

After the Fontan procedure, the blood without oxygen comes back from the body directly in the lungs, without being pushed by the heart. There are two main driving forces allowing this flow into the lungs.

​The first one is an increased pressure in the veins. Instead of a pressure of 0 to 5 millimeter of mercury (the equivalent of the weight of a column of water of 1 square centimetre over a height of 5 centimeter, very little), the pressure in the veins after a Fontan procedure is around 15 to 20 milimeter of mercury.

​The second driving force is the breathing. As you breathe in, the size of the inside of the chest is increased, and the air is sucked in the airways. At the same time, the blood is sucked into the lungs. When you breathe out, the opposite occurs. The size of what is inside of the chest is reduced and the air is pushed out of the lungs. At the same time, the blood is pushed out of the lungs. The breathing acts like a pump for the blood flowing passively in and out of the lungs. That is why it is important for patients who had a Fontan operation to have good lungs. It has been shown that after Fontan, the blood circulates better in the body of those who keep exercising.

​For the Fontan operation to work well, it is also important to have good lung arteries, without restriction, and to have a well a functioning heart, even if the heart is working as a single pump instead of two.

How is the Fontan procedure done?

The patch that was placed in the right upper chamber is removed (1). A wall, called a baffle (2), is built in the right upper chamber. The baffle guides the blue blood coming from the lower body into the blood vessels that go to the lungs (the pulmonary arteries). A small hole, called a fenestration (3), is made in the baffle. This allows a small amount of blue blood to go across the baffle into the right upper chamber. This hole works like a pop-off valve in case the pressure in the lungs gets too high. The size of the hole may vary. For most children, a small hole is made that will close by itself over time. In some children, a larger hole is needed. Closure of large holes is usually done six to twelve months later during a heart catheterization.

Figure 9. How the Fontan procedure is done

Fontan procedure recovery

Recovery after Fontan heart surgery will be similar to the Stage 2 hemi-fontan procedure where the length of stay varies from one to three weeks. After surgery, the baby will go to the Cardiac Intensive Care Unit (CICU). As long as the baby is on the breathing machine or needs to be watched closely the baby will stay in the CICU. After the baby fully recovers from surgery, the baby will be transferred to the regular cardiac floor. One important difference is that the child may have more than one chest tube to drain fluid from around the lung. Now all of the blood from the body is returning to the lungs through a “passive route” that requires a higher pressure. Therefore, fluid can leak out around the lungs and needs to be drained. Sometimes these chest tubes need to stay in for a longer time to drain this fluid. The child can be recovering on the regular cardiac floor and is encouraged to be out of bed and playing at this time.

Fontan and exercise

Increasingly the importance of regular physical activity is being recognised for people with a Fontan circulation.

“Cardio” type exercise programs with a component of moderate-intensity weight training has been shown to be of benefit for the cardiovascular system in other forms of heart disease but research investigating such physical activity in people with Fontan-hearts is limited. Some small studies have shown cardio exercise (such as brisk walking, swimming, dancing and jogging) improves exercise capacity in Fontan-hearts and recent Australian research has suggested that healthier limb muscles after a doctor-supervised, strength-training program helped the Fontan circulation to work more effectively both at rest and during exercise, probably by helping to pump blood back through the lungs and into the heart.

​More research is needed to clarify the optimal exercise regimen that might include aspects of “cardio” exercise and some carefully supervised strength-training to help build muscle bulk, but what we do know already is that maintaining an active lifestyle with regular physical activity several days a week is beneficial.

​A good target during exercise is to reach a level of exertion at which you are breathing hard, but can still have a conversation without having to stop to catch your breath. Lifting really heavy weights that are so difficult that you have to hold your breath to strain or grunt should be avoided as this can have negative effects on your cardiovascular system.

​Before undertaking any vigorous exercise training program it is important that you discuss your plans with your cardiologist. They may also be able to give you some helpful targets for your heart rate and level of exertion.

Fontan procedure complications

Creation of Fontan circulation is palliative by nature, with proved good results in patients with ideal hemodynamics and substantial morbidity and mortality in those with unfavorable hemodynamics and those who underwent older surgical techniques. Risk factors for complications include elevated pulmonary artery pressure, anatomic abnormalities of the right and left pulmonary arteries, atrial-ventricular valve regurgitation, and poor ventricular function.

Many patients with Fontan circulation lead almost normal lives; however, some experience progressive exercise intolerance, and in patients with surgically constructed conduits, conduits may develop stenosis or become dilated.

Potential complications of Fontan circulation include ⁹⁾:

• Left ventricle – ventricular failure causing exercise intolerance, ischemia and infacrti0n
• Pulmonary circulation – stenosis, dilatation or leakage of anastomosis, pulmonary stenosis, pulmonary hypertension
• Inferior vena cava – increased pressure causing liver cirrhosis, liver failure and portal hypertension; increased risk for liver carcinoma
• Right atrium with classic Fontan circulation – dilatation (can be severe); poor, turbulent flow; blood clot formation
• Collateral vessels and shunts – pulmonary arteriovenous malformation, aortopulmonary collateral vessels
• Lymphatic system – protein losing enteropathy, plastic bronchitis, pericardial and pleural effusions, chylothorax
• Blood vessels – blood clots and emboli including pulmonary embolism

Right atrium with classic Fontan circulation

Patients with atriopulmonary Fontan circulation are predisposed to development of complications. The right atrium is exposed to elevated systemic and right atrial pressure, which leads to right atrial dilatation and hypertrophy ¹⁰⁾. Dilatation may be severe, and it may lead to complications such as arrhythmia and swirling of blood in the enlarged atrium, which causes stasis and results in poor blood flow to the lungs. Dilatation also may be a predisposing factor for clot formation. Patients with Fontan circulation also may have undergone atriotomy, a procedure that may injure the sinus node or conducting fibers and cause atrial arrhythmia. Many patients who undergo the Fontan procedure also require conversion of the old circuit to an extracardiac cavopulmonary circuit. These patients also may require a right atrial maze procedure (to reduce arrhythmia), right atrial reduction plasty, and possibly a pacemaker ¹¹⁾.

Inferior Vena Cava

Systemic venous hypertension of Fontan circulation has detrimental effects on infradiaphragmatic venous and splanchnic circulation ¹²⁾. Chronic congestive heart failure leads to increased hepatic sinusoidal pressure and loss of venous pressure gradient, which leads to cirrhosis, portal venous hypertension, and hepatic dysfunction. Portal hypertension may manifest as splenomegaly and portosystemic shunts. Hepatic encephalopathy has been reported in patients who underwent Fontan procedures, and hepatic dysfunction may progress to cardiac cirrhosis or hepatocellular carcinoma ¹³⁾.

Left ventricle

Because of its original hemodynamic state of volume overload, the ventricle of a functionally univentricular heart may dilate, hypertrophy, and become hypocontractile ¹⁴⁾. Total bypass of the right side of the heart and completion of the total cavopulmonary circuit result in a marked reduction of preload to the systemic ventricle. Chronic preload depletion perpetuates systolic and diastolic dysfunction of the ventricle, resulting in impaired compliance, poor ventricular filling, and eventually low cardiac output. The congenital malformation itself also may be a predisposing factor for ventricular dysfunction, and the systemic ventricle may be a morphologic right ventricle or an indeterminate primitive ventricle, both of which may fail after years of systemic loading; failure manifests as exercise intolerance. High right atrial pressure may lead to disadvantageous coronary blood flow, which may affect myocardial perfusion and function. Coronary sinus blood may be surgically redirected to drain into the left atrium ¹⁵⁾.

Pulmonary circulation

In the absence of the hydraulic force of the right ventricle, Fontan circulation results in a paradox of systemic venous hypertension (mean pressure, >10 mm Hg) and pulmonary artery hypotension (mean pressure, <15 mm Hg). The absence of pulsatile blood flow and low mean pressure in the pulmonary artery underfill the pulmonary vascular bed and increase pulmonary vascular resistance. The pulmonary arteries may be morphologically abnormal (ie, small, discontinuous, or stenosed) ¹⁶⁾. Pulmonary vascular resistance is an important determinant of cardiac output in patients with Fontan circulation, and it is important to identify restricted blood flow to and from the lungs. Stenosis or leakage of surgical anastomoses between the venae cavae and pulmonary arteries may adversely affect pulmonary blood flow ¹⁷⁾.

Collateral vessels and shunts

Collateral vessels and shunts may lead to substantial right-to-left shunts and cyanosis, which may be caused by incomplete closure or a residual atrial septal defect ¹⁸⁾. Fenestration may be surgically created between the surgical conduits and the right atrium at the expense of cyanosis from the right-to-left shunt ¹⁹⁾. Surgical redirection of coronary sinus blood flow to the left atrium usually results in modest arterial desaturation and a right-to-left shunt ²⁰⁾. Due to the absence of pulsatile blood flow and underfilling of the pulmonary vascular bed, patients with Fontan circulation are at increased risk for formation of pulmonary arteriovenous malformations ²¹⁾. Patent collateral vessels between systemic veins and pulmonary veins or patent systemic veins that extend directly into the left atrium—a result of their pressure difference—are other potential causes of desaturation in patients with Fontan circulation ²²⁾.

Left-to-right shunts also may occur. Aortopulmonary collateral vessels are common in patients with Fontan circuits and have been identified as a risk factor for Fontan operations and morbidity. These collateral vessels also may lead to hemodynamic shunting, which results in volume overload of the systemic ventricle and increased pulmonary blood flow and pulmonary pressure. Aortopulmonary collateral vessels may arise from the thoracic aorta, internal mammary arteries, or brachiocephalic arteries ²³⁾.

Blood vessels

In addition to a dilated atrium and low cardiac output, many patients with Fontan circulation also have coagulation abnormalities associated with hepatic congestion and chronic cyanosis–induced polycythemia, which results in increased frequency of pulmonary thromboembolic events ²⁴⁾. Massive pulmonary embolism is the most common cause of sudden out-of-hospital death in patients with Fontan circulation ²⁵⁾. The reported incidences of venous thromboembolism and stroke are 3%–16% and 3%–19%, respectively ²⁶⁾.

Lymphatic system

Fontan circulation operates at or sometimes beyond the functional limits of the lymphatic system. Lymphatic circulation may be affected by high venous pressure and impaired thoracic duct drainage. Increased pulmonary lymphatic pressure may result in interstitial pulmonary edema or lymphedema. Leakage into the thorax or pericardium may lead to pericardial and pleural effusions (often right-sided) and chylothorax, usually in the postoperative period ²⁷⁾.

Protein-losing enteropathy is a relatively uncommon manifestation of failing Fontan circulation. Its cause is unclear; however, loss of enteric protein may be due to elevated systemic venous pressure that is transmitted to the hepatic circulation (hepatic and portal veins). Protein-losing enteropathy may lead to hypoproteinemia, immunodeficiency, hypocalcemia, and coagulopathy, and it may occur in the long term. Patients with protein-losing enteropathy usually have a poor prognosis ²⁸⁾.

Plastic bronchitis is a rare but serious complication of the Fontan procedure, occurring in less than 1%–2% of patients. It is characterized by noninflammatory mucinous casts that form in the tracheobronchial tree and obstruct the airway²⁹⁾. Clinical manifestations include dyspnea, cough, wheezing, and expectoration of casts, which may cause severe respiratory distress with asphyxia, cardiac arrest, or death. The exact cause of plastic bronchitis is unknown; however, it has been suggested that high intrathoracic lymphatic pressure or obstruction of lymphatic flow may lead to the development of lymphoalveolar fistula and bronchial casts ³⁰⁾. Medical management is difficult; success rates vary, and patients often require repeat bronchoscopy to remove the thick casts. Surgical ligation of the thoracic duct may cure plastic bronchitis by decreasing intrathoracic lymphatic pressure and flow ³¹⁾.

Eye patching for kids

Eye patching is a treatment for amblyopia or lazy eye. Amblyopia when one eye does not develop normal eyesight. Patching of the dominant (good) eye helps the weak eye get stronger. The treatment works very well when patching instructions are carefully followed. The best time to use eye patching to correct amblyopia is during early childhood.

What is a lazy eye?

“Lazy eye” also sometimes called amblyopia, is the medical term used when the vision in one eye (common) or both eyes (less common) is reduced because the eye fails to work properly with the brain ¹⁾. Amblyopia is when vision in one or both eyes does not develop properly during childhood. The eye itself looks normal, but for various reasons the brain favors the other eye. Amblyopia is a neurodevelopmental disorder that arises from abnormal processing of visual images that leads to a functional reduction of visual acuity and its associated risk factors ²⁾. An estimated 2%–3% of the population suffer from amblyopia ³⁾. Amblyopia is a common problem in babies and young children. Unless it is successfully treated in early childhood amblyopia usually persists into adulthood, and is the most common cause of permanent one-eye vision impairment among children and young and middle-aged adults.

Lazy eye can result from any condition that prevents the eye from focusing clearly. Sometimes this causes the weaker (“lazy”) eye to wander outward, inward, upward or downward. When an eye wanders causing misalignment of the two eyes, that condition is called strabismus. With strabismus, the eyes can cross in (esotropia) or turn out (exotropia). Amblyopia and strabismus are commonly confused. When most people think of “lazy eye” they are actually thinking of wandering or misaligned eyes, which is strabismus. “Lazy eye” is amblyopia — poor vision in one or both eyes. This poor vision (amblyopia) can lead to eye misalignment (strabismus). Strabismus is more commonly referred to as crossed eyes, wandering eyes, or drifting eyes. If for some reason one eye of a child has decreased vision, the brain will not use that eye and it becomes lazy (reduced vision) from lack of use. That is amblyopia — the eye is lazy from lack of use. If one eye happens to be looking somewhere other than the other eye, that is strabismus. Lazy eyes with amblyopia just do not see well, it DOES NOT mean they wander or drift ⁴⁾.

Occasionally, amblyopia is caused by a clouding of the front part of the eye, a condition called cataract.

Early vision screening by a pediatrician, family doctor or an ophthalmologist is important in detecting children with amblyopia as young as possible. A number of eye diseases can contribute to the development of amblyopia.

In 2016, the American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American Academy of Certified Orthoptists, and American Academy of Ophthalmology released a joint clinical report recommending preschool vision screening ⁵⁾. The joint report recommends vision assessment in children aged 6 months to 3 years with physical examination (eg, external inspection, the fixation and follow test, the red reflex test, and pupil examination). Instrument-based vision screening (with autorefractors or photoscreeners) may be used, when available, in children aged 1 to 3 years. Visual acuity screening may be attempted at age 3 years using HOTV or Lea Symbols charts; children aged 4 to 5 years should have visual acuity assessed using HOTV or Lea Symbols charts, the cover-uncover test, and the red reflex test ⁶⁾, ⁷⁾.

The American Academy of Family Physicians recommends vision screening in all children at least once between the ages of 3 and 5 years to detect amblyopia or its risk factors; it concluded that the current evidence is insufficient to assess the balance of benefits and harms of vision screening in children younger than 3 years ⁸⁾.

The American Optometric Association recommends initial vision screening in infants at birth. Regular comprehensive eye examinations should occur at age 6 months, age 3 years, and prior to entry into first grade; eye examinations should then occur at 2-year intervals unless children are considered at high risk for vision abnormalities ⁹⁾.

The US Preventive Services Task Force ¹⁰⁾ makes recommendations about the effectiveness of specific preventive care services for patients without obvious related signs or symptoms. It bases its recommendations on the evidence of both the benefits and harms of the service and an assessment of the balance. The US Preventive Services Task Force recommended vision screening for amblyopia and its risk factors in children aged 3 to 5 years (B recommendation). The USPSTF concluded that the evidence was insufficient to assess the balance of benefits and harms of vision screening in children younger than 3 years (I statement) ¹¹⁾.

Amblyopia treatment should be started as early as possible because ¹²⁾:

• over time the amblyopic “lazy” eye could become permanently blind;
• depth perception (3-D vision) could be lost; and
• if the other, better-seeing, eye becomes diseased or injured, the amblyopic “lazy” eye cannot replace the loss in vision.

Treatment of amblyopia

If the child has a significant refractive error, be it long sightedness, short sightedness or astigmatism, glasses will be prescribed. The initial treatment for children with amblyopia and a refractive error, should be full time spectacle wear for 3-4 months. If, at the end of this period, the vision in the amblyopic eye has not started to improve, occlusion therapy in the form of eye patching is recommended. If there has been some visual improvement with glasses alone, occlusion therapy is not needed, but will be started when there is no further visual improvement with glasses alone.

How does eye patching work?

By putting a patch over the better seeing eye the child’s brain is forced to “recognize” the image from the amblyopic eye. This stimulates the development of nerve pathways between the amblyopic eye and the brain, so improving the vision in this eye.

How to put on the eye patch?

Remember that if your child’s vision is poor in their amblyopic eye they may be clumsy when wearing their eye patch. The eye patch will also prevent any 3D vision that your child may have. Therefore they will not be able to judge distances as well when wearing their eye patch.

• Eye patch is applied directly to the skin. These eye patches are designed to be worn on the face underneath any glasses required. They are also available as hypoallergic patches for those with very sensitive skin. These are the most suitable eye patches for children with very poor vision in their amblyopic eye because it is harder for them to move the eye patch to try to peep around it.
• Eye patch attached to the glasses. These eye patches are designed to be worn on the child’s glasses but it will be necessary to closely monitor your child to ensure that they do not try to peep by moving the patch sideways or pulling their glasses down to look over the top of the patch. Some children respond well to this frosted tape applied to their glasses but again there may be a temptation to peep.

Patching a baby or toddler

Putting some thick mittens on your child will mean that they are less able to easily remove the eye patch and / or glasses. The mittens can be tucked or sewn into the sleeves of a garment. Taking your child out for a walk in the pushchair with mittens and a eye patch will help to distract them and is an activity that most children enjoy. Sometimes eye patching at mealtimes when the child is occupied with their food can work. Be prepared that you may initially have to sit and play with your child constantly to ensure that the patch is not removed and in the early stages of patching they may be quite upset. As the vision improves in the amblyopic eye their acceptance of the eye patch should hopefully also improve.

What kind of eye patch should my child use?

The best kind of eye patch is an orthoptic patch with adhesive on the back. This type of patch is similar to a Band-Aid®. They come in different sizes and colors. You should put the patch directly on your child’s skin around his/her eye. Some kids are sensitive to the adhesive. If your child has this problem, you can try using a different brand of patches. You can also try putting a lubricant (like lotion) or Milk of Magnesia on their skin. Milk of Magnesia is a liquid that reduces the skin’s contact with adhesive. Cover the skin around your child’s eye with it. Wait for it to dry into a powder and then put on the eye patch. Another type of patches is made of cloth. If your child wears glasses, you can put a cloth patch over his/her glasses. For the patch to work well the glasses should fit tightly and the cloth should not have any holes. “Pirate patches” usually do not fit close enough to be effective.

How often does my child need to use an eye patch?

Your child should wear an eye patch for either full or part-time during the day. Talk to your child’s eye doctor about how many hours he/she recommends.

How many hours a day will the eye patch have to be worn for?

There is good evidence that 2 hours of patching a day is as effective as 6 hours of patching for moderate cases of amblyopia (vision between 20/40 – 20/80 or 6/12-6/24). In more severe amblyopia patching for 6 hours per day is usually recommended. It has been shown that full time patching is no more effective than patching for 6 hours per day, even in severe amblyopia.

Studies that have electronically monitored the actual number of hours a patch is worn for, as apposed to the number of hours prescribed, have shown that that 80% of the improvement in vision occurs within the first 6 weeks of treatment.

Several large studies have looked at the total number of hours of patching needed to achieve the best improvement in vision and the answer varied between 150-400 hours!

In the ideal situation, patching is gradually reduced and then stopped when the vision is equal in both eyes. However a more common scenario is that the vision in the amblyopic eye plateaus at 6/12 or 20/40 level and patching is tapered off at this point. Approximately 70% of children achieve this level of vision with patching treatment.

Is it worth me patching at all? A two-hour dose of patching has been recommended, but my child will only wear the patch for half an hour.

Yes, any patching is better than none at all and you may be able to gradually increase the length of time the patch is worn as your child’s vision improves.

Do I have to do the eye patching in one session each day? What do I do if I forget one day?

The patching can be worn continuously for the prescribed time or it can be split up eg. 2 hours continuously or two 1 hour slots – whichever fits best into your routine. However, many parents find that splitting it up causes more “fuss” from the child! If you forget to patch one day try to patch for twice the recommended time the next day.

When should my child wear an eye patch?

It does not matter when your child wears an eye patch. As long as your child is awake and has his/her eyes open, wearing an eye patch can strengthen your child’s weak eye. There are often questions about whether children should patch at school or at home. At home, children are under the care of parents or other family who may be more vigilant about monitoring patching than is possible at school. On the other hand, patching during school may give your child and classmates an opportunity to learn about accepting differences between children. Every child is unique and parents should be flexible in choosing when to schedule patching.

The vision may improve more quickly if the child is “working” the amblyopic eye by performing some sort of close work and most children will enjoy choosing from a variety of activities such as reading (or being read to), coloring, making jigsaws or playing with electronic games.

How do I persuade my child to wear a patch?

This is a challenge for many parents, especially if the vision in their child’s amblyopic eye is very poor and the child is objecting strongly. Unfortunately this is an area of treatment where there is no “quick fix” but it is also a brilliant opportunity to spend a great deal of time and enjoy playing with your child.

It is necessary to adopt a firm approach and probably easiest for everyone if the patch can become part of the child’s daily routine.

Patience and perseverance will be required and some children require a very structured approach to the patching routine eg. Setting the patch dose time on a cooking timer. Many children prefer to remove their own patch when the time is up.

Parents might like to start with a short explanation eg. Putting the clever eye to sleep so the lazy-bones eye can do some work.

It is probably best not to patch your child when they are tired as they are less likely to cooperate.

Often a routine of child gets up, washes face, glasses if required put on, followed by patch on and the teacher or nursery staff remove the patch at mid morning break or lunchtime works well for 2 or 4 hour doses of patching. Sometimes children will tolerate the patch better for someone other than their parents!

Many children respond well to daily star charts and charts such as these where they draw a smiley mouth if they have worn their patch and a sad mouth if they have not.

Parents may wish to consider a small reward at the end of each week if the patch has been worn well each day. Children may like to bring a picture that they have drawn or colored in whist wearing their patch to their eye clinic appointments to “show and tell.”

When is it too late to start eye patching treatment?

Although the connections between a child’s eyes and their brain are normally fully formed by the age of 8-9 years, eye patching therapy can still be successful up to the age of 14 in some cases.

What if my child does not want to wear an eye patch?

It is very common for children to refuse to wear an eye patch. It may take a lot of encouragement from family, friends, and teachers for your child not to remove the patch. You can consider rewarding your child if he/she keeps the patch on for the necessary amount of time. You can also let your child choose the color and pattern of his/her eye patch. You can also try patching during your child’s favorite activities. Some kids are more willing to wear patches while they are watching TV or playing games.

How long does it take for eye patching to work?

The duration of patching will depend on the severity of the amblyopia, the age of the child and how well the child and their parents are able to stick to the prescribed patching regime!

Your child’s vision may improve a few weeks after starting patching. It may take many months for the best results. Your child’s eye doctor will monitor your child’s vision closely during and after eye patching. Your child’s eye doctor may recommend that he/she occasionally uses eye patching even after his/her vision has improved. This will help make sure your child’s eyesight does not get worse.

I have noticed the turn sometimes swaps over into the good eye. What should I do?

If the turn swaps into the good eye occasionally this is a good sign for the vision, it means that the vision is becoming more equal in the two eyes. If the turn just swaps over occasionally keep patching for the recommended time. If at any point you think that the good eye is turning more than the “bad” one then you should stop the patch and contact your eye clinic for advice.

Will the improvement in vision be permanent?

In approximately 80% of children the visual improvement is maintained for at least a year after patching is stopped. Recurrence of the amblyopia is more likely to occur if patching is stopped suddenly, if the amblyopic eye is much more long sighted than the good eye (anisometropic amblyopia) or when the amblyopia is a combination of strabismic and anisometropic amblyopia. This is why it is important to continue monitoring the vision until the child is 8-9 years of age, so any recurrence of the amblyopia can be treated.

Interestingly there is evidence that should a person loose vision in their good eye in later life, the vision in the amblyopic eye can improve spontaneously to the best level that was achieved with patching.

How does atropine penalisation work and when is it used instead of patching?

As an alternative to eye patching the stronger eye can be “penalized” by using atropine drops once a day to this eye. These drops weaken the focusing mechanism of the eye so reducing the close up vision to such an extent that the child’s brain “chooses” the image form the amblyopic eye rather than the blurred image from the stronger eye.

Penalisation of the better seeing eye with atropine drops or ointment has been demonstrated to be as effective as eye patching for moderate amblyopia (20/40 to 20/100; 6/12 to 6/30). It has also been used to successfully treat severe amblyopia.

Although the initial improvement in vision appears to be more rapid with eye patching, the visual improvement after six months of treatment is equally good.

Why isn’t atropine penalisation the first choice of treatment for amblyopia?

While atropine is as effective as eye patching for treating amblyopia and may be a more acceptable form of treatment to some children and their parents, it is less controllable than eye patching, as the effects of the atropine last for up to 2 weeks and can, rarely, cause a drop in vision in the good eye. This is known as reversal amblyopia and is the reason why a child having atropine penalisation needs to be seen every 2-3 weeks, so the vision in both eyes can be closely monitored. The risk of reversal amblyopia and the increased number of clinic visits are the main reasons why atropine penalisation is not routinely used as the initial treatment for amblyopia by most ophthalmologists.

Atropine penalisation tends to be used if eye patching treatment has been unsuccessful despite good compliance with patching, or of the child is unable to tolerate wearing a patch.

What happens if the vision does not improve with glasses, eye patching and /or atropine drops?

Occasionally the vision in the amblyopic eye does not improve despite the fact that the glasses have been worn full time and eye patching and / or atropine drops has been carried out as instructed. When this happens the ophthalmologist will re-examine the back of the eye again to make sure that there is not a subtle abnormality of the optic nerve or retina, which might not have been apparent at the time of the initial examination, that could be the cause of the poor vision.

If it appears that the chance of visual improvement with further treatment is slim and if the child is likely to find continued treatment upsetting, a decision may be taken to stop amblyopia treatment.

Why can’t my child have an operation to improve the sight in their lazy eye instead of the eye patch?

A strabismus operation can only restore the use of the two eyes together and / or improve the appearance of the strabismus eye. It does not treat the poor vision in the amblyopic eye, this can only be done by patching / atropine drops and / or glasses.

Hemispherectomy

Hemispherectomy involves removing or disconnecting one hemisphere or one side of the brain that is least used and the source of your child’s seizures. Hemispherectomy is considered when seizures have continued despite medications for at least two years and seizures are traced to several parts of one hemisphere of the brain. Side effects of this surgery include speech problems and loss of movement and/or sensation on one side of the body. Your child will be monitored closely to identify the long-term effects. Your child will need to rehabilitation in the hospital and at home to help manage these side effects.

Complete removal of one hemisphere has some associated complications, so some neurosurgeons prefer to perform a functional hemispherectomy, in which only some sections of the brain are removed and other sections are disconnected. The end result of a functional hemispherectomy is that half the brain is completely disconnected from the other half and totally inactive. Your child’s neurologist and neurosurgeon will discuss the best surgical procedure for your child.

The aim of a hemispherectomy is to remove or disconnect that hemisphere that is least used and the source of your child’s seizures. During this procedure, the corpus callosum is also cut (callosotomy) to prevent the spread of seizures from the dysfunctional hemisphere to the functional hemisphere.

The largest part of the brain, the cerebrum, is organized into two hemispheres. In most people, the two hemispheres perform distinct functions.

• The left hemisphere is dominant for language in most people, and plays an important role in language, verbal memory, reading, writing, and arithmetic. It is concerned with sensation and movement on the right side of the body.
• The right hemisphere plays a large part in interpreting what we see and touch, and in non-verbal memory, music, and emotions. It is concerned with sensation and movement on the left side of the body.

The left hemisphere dominates language in almost all right-handed people and in many left-handed people. In some people, though, the two hemispheres share the language function more equally, and in a few people the right hemisphere may be dominant for language function. Right hemisphere and bilateral (two-sided) language centres are more common in young children and children with epilepsy.

Patients with the following clinical and neuroimaging features may be appropriate for a hemispherectomy procedure:

• Medically intractable epilepsy with seizures arising from the pathological side.
• Weakness of one side of the body with loss of dexterity of the hand with, or without, peripheral visual loss.
• Developmental retardation or arrest of maturation due to intractable seizures.
• Diffuse abnormality of one cerebral hemisphere which is contributing to the intractable epilepsy.

Diseases presenting with these symptoms include malformations of cortical development, perinatal infarction (stroke), hemimegalencephaly, Sturge-Weber-Dimitri disease, and Rasmussen’s encephalitis. Most of these patients start having seizures and weakness early in life. Once the diagnosis of epilepsy is suspected, the patient should be referred to a center specialized in the evaluation and management of pediatric epilepsy.

Figure 1. Human brain

Figure 2. Medial aspect of the human brain

What can I expect from the hemispherectomy?

Every child is different. Depending on the nature of your child’s seizures and the location of the epileptogenic region, hemispherectomy may result in complete seizure control or “partial” seizure control with less need for medication. There may also be some chance that the surgery will not improve things. Talk to your child’s doctor about what you and your child can realistically expect as a result of the surgery.

How hemispherectomy affects the global functioning of a child (such as whether they walk, speak, and read) is known as functional outcomes. Unfortunately, functional outcomes are poorly addressed in published research papers.

Approximately 71% percent of children who have this procedure are seizure-free afterwards; however, the procedure leaves the child with physical and sensory deficits that are unavoidable. In this largest study to date, it was found that ¹⁾:

• 42% over the age of 6 have satisfactory reading skills;
• 60% participate in mainstream schools with assistance;
• 70% have satisfactory speaking skills;
• 83% are able to walk independently;
• 24% of adults who had the procedure in childhood are gainfully employed.

Vision

All children after surgery will have homonymous hemianopsia which is the permanent loss of the visual field opposite the removed hemisphere. This is more than a loss of peripheral vision – it is loss of half the visual field in each eye, including half the central (foveal) vision.

Hearing

Because one temporal lobe is removed or disconnected, mild-to-severe listening impairments (known as central auditory processing disorder) can occur. This affects hearing and listening in various environments, especially loud environments or with multiple speakers.

Movement

Because the surgery removes or disconnects the upper motor neurons from one side of the brain that are responsible for intentional movement on the opposite side of the body, the child is left with hemiparesis – a significant weakness of the opposite side of the body. Existing connections to the motor neurons of the remaining part of the brain, however, make it possible for the child to recover some movement, including the ability to walk and use the affected hand as an assist or for some bimanual activities. Although fine motor of the hand will be impaired greatly, the child should be able to move their shoulder, upper arm, and sometimes wrist over time. Some finger movement, especially closing of the hands, can occur after appropriate interventions.

The weakness is most significant in the days and weeks after surgery, with the opposite arm and leg often totally floppy (flaccid). This is known as hypotonia (decreased activity of spinal circuits because of sudden deprivation of input from the brain). After the hypotonic phase is over, some of the movements will return most at the shoulder and hips. Some children do not experience a hypotonic phase at all.

Hemiparesis is associated with clonus, spasticity, and contracture. Children should be monitored closely as spasticity almost always increases over time, and can eventually lead to permanent contracture of the muscles. Shortened, contracted muscles can pull out bones from their sockets and lead to hip dysplasia and subluxation, painful shoulder subluxation, and other issues which often require surgery.

Children with hemiparesis often have difficulties maintaining their balance due to weakness. Performing daily living tasks such as dressing, eating, grabbing objects, or using the bathroom may be difficult for some children. Most require the use of orthotic devices to keep the feet in proper alignment.

Hemiparesis is part of the upper motor neuron syndrome, which includes weakness of the opposite side of the body, decreased speed, accuracy, and dexterity of the hand, altered muscle tone, decreased endurance, and exaggerated deep tendon reflexes including spasticity and contracture. Surgery also causes some reduced dexterity, strength, and fine motor skills in the “unaffected” hand. This may later cause difficulty with writing, drawing, force production, and pressure sensitivity.

Speech

In approximately 95% of typically-developing children, speech and language is a function of the left hemisphere of the brain; however, after left hemispherectomy surgery, approximately 44 – 76% of children have expressive and receptive language skills depending on the underlying condition which caused the seizures. Some are even bilingual.

Expressive speech can be challenging after hemispherectomy. Children who spoke prior to the surgery may take several years to fully return to baseline. Additionally, children who did not speak prior to hemispherectomy have been known to speak afterwards, even when surgery occurred as late as nine years old.

Because the surgery removes parts of the brain responsible for motor planning and intentional movement, many children after hemispherectomy are diagnosed with apraxia. Apraxia is a motor speech disorder where the child has problems saying sounds, syllables, and words; the child knows what he/she wants to say, but the brain has difficulty the muscle movements necessary to say it.

Many children have challenges with articulation (making clear speech sounds) and prosody (patterns of stress and intonation) which may be caused by motor planning challenges or motor deficits related to hemiplegia, which can also affect the oral muscles used in speech.

Sensation

Research ²⁾ shows that sensitivity to heat, cold, and pain will be impaired in the hand, forearm, and upper arm opposite the removed hemisphere, and will vary in severity from child to child. The reduced sensitivity is most significant in the hand. This puts children at risk of unknown broken bones after falls because their pain reaction is significantly reduced, or burns. Also, sensitivity to hot and cold is impaired in the arm on the same side of the removed hemisphere in the upper arm area.

Eating and Drinking

Approximately 26% of children will have difficulty eating and drinking right after surgery. Very limited research shows that symptoms lasted a median of 19 days. Anecdotally, some children require a gastric tube to be placed for several years and sometimes months.

Headaches

Except in cases of true anatomical hemispherectomy, the disconnected hemisphere will continue to seize. Research indicates that these disconnected seizures can cause headaches. Headaches can also be caused by the craniotomy and in 30% of individuals who have craniotomy, the headaches can be ongoing. Headaches are also a sign of hydrocephalus, which should be ruled out.

What are the chances of total seizure control after hemispherectomy?

A recent systemic review of 15 studies which address seizure outcomes across several different hemispherectomy procedures shows that the long-term seizure control rate at five years or more after surgery is 71%.

What factors affect seizure control?

Children whose seizures began after 3 1/2 months of age have a higher chance of long-term seizure control. Also, children who have abnormal MRI findings prior to surgery also have higher rates of control. Sturge-Weber syndrome, Rasmussen’s encephalitis, and pediatric stroke syndrome have the highest seizure control rate of approximately 80%.

Children with hemimegalencephaly have the lowest at seizure control rate at approximately 66%.

Hemispherectomy indications

Hemispherectomy is considered when:

• seizures have persisted, despite trying medication (monotherapy and polytherapy) for at least two years
• pre-surgical evaluation shows multifocal epileptic activity (seizures arising from several areas of the brain) restricted to one hemisphere.

Hemispherectomy is often used for intractable seizures associated with hemimegalencephaly (overgrowth of one side of the brain). Hemispherectomy is also used in children with a dysfunctional hemisphere as a result of Rasmussen’s encephalitis or Sturge-Weber syndrome.

Generally, the earlier in life that this operation is done the more likely the child is to compensate for the loss of one hemisphere. The younger the child, the more flexible (plastic) the brain is and the better the remaining side can compensate for the operated side. However, the child must be at least several months old before they can have the surgery.

Patients who have congenital hemiplegia and atrophy or poor development of one cerebral hemisphere may also have broad areas of almost continuous seizure discharges over that hemisphere. Often, seizures in these individuals are refractory to medication. In some of these patients, the seizure discharges cross the corpus callosum and interfere with the function of the opposite, normal hemisphere as well. Cognitive function may be severely handicapped, as is normal fine movement of the foot and hand on the side opposite the affected hemisphere.

If the affected cerebral cortex, which is propagating significant seizure discharges but is not mediating useful neurologic function, is removed surgically, these patients will often experience dramatic improvement not only in seizure control, but also in overall neurologic function. This improvement is the result of eliminating the negative effect of the impaired hemisphere on the unaffected, normal side of the brain.

Patients are considered for hemispherectomy if they have one of a variety of neurologic disorders that typically affect one half of the brain, including:

• Rasmussen’s encephalitis
• Sturge-Weber syndrome
• Hemimegalencephaly
• Porencephalic cyst from a large congenital stroke

About 85% to 90% of patients undergoing hemispherectomy experience arrest of their seizures, accompanied in most cases by dramatic improvement in function, including further cognitive development.

Hemispherectomy types

There are several different types of hemispherectomy procedures. They include the anatomical hemispherectomy, subtotal hemispherectomy, the functional hemispherectomies, and the hemispherotomies. There are also other procedures which fall under this category which include hemidecortication and other newer procedures. Surgeons are not trained in all techniques and some techniques are more complicated than others. Most surgeons perform only the procedures they have been trained to perform and are familiar with.

Two types of hemispherectomies commonly performed include anatomic hemispherectomy and functional (disconnective) hemispherectomy as shown in Figures 3 and 4. Anatomic hemispherectomy involves the removal of the frontal, parietal, temporal, and occipital lobes. The deeper structures, such as the basal ganglia, thalamus and brain stem are left in place. The anatomic hemispherectomy has a slightly higher risk of blood loss and delayed hydrocephalus. It is typically performed for patients with hemimegalencephaly. The functional technique involves removing a smaller area of the affected hemisphere and disconnecting the remaining brain tissue. This disconnection includes a corpus callosotomy and allows for electrical isolation of the hemisphere that is left in place. This technique involves less risk of blood loss and hydrocephalus but is not appropriate for all patients. Outcomes after both types of epilepsy surgery are reported to be equal and approach 70% seizure freedom.

Anatomical hemispherectomy

A true anatomical hemispherectomy is when all four lobes of one hemisphere of the cerebral cortex are removed in their entirety. They may be removed “en bloc” (all together) or in pieces. Because of where they are located within the brain, the amygdala and hippocampus on the affected side are removed. Sometimes the surgeon removes the thalamus and basal ganglia on the affected side as well. Technically, this is the least complicated of all the hemispherectomy procedures.

Anatomical hemispherectomy is often used today in many surgical facilities, usually for cases such as hemimegalencephaly where functional hemispherectomy can sometimes be unsuccessful.

There are significant short- and long-term complications that are associated with this procedure:

• Hydrocephalus: Hydrocephalus is a common side effect of anatomical hemispherectomy, with this study ³⁾ of 690 patients finding it in 30% of cases. Hydrocephalus is a risk throughout the lifespan, with 27% of children developing hydrocephalus three or more months after surgery;
• Superficial hemosiderosis is an extremely rare condition caused by chronic iron deposits on brain tissue. This was reported as a late complication of anatomical hemispherectomy in the early research papers. Blood product in the cerebrospinal fluid, whether left behind from the surgery or caused by blood leaking from tiny rips and tears in capillaries that can occur over time due to brain shift or dislodging of the hemisphere, is one possible cause of this condition. Symptoms of superficial hemosiderosis include gait imbalance, progressive loss of hearing which sometimes begins as ringing of the ears (tinnitus), vertigo, and other symptoms. Because the delayed mortality rate was reported as high as 40% for those with superficial hemosiderosis after hemispherectomy, anatomical hemispherectomy was largely abandoned in the early 1970s by many facilities. It is now believed that the high mortality rate may have been due to untreated hydrocephalus rather than superficial hemosiderosis in many of the early cases. Superficial hemosiderosis has not been reported in medical literature in over 30 years; however, there are anecdotal reports from parents of adults who had childhood anatomical hemispherectomy. It has also been reported many years after functional hemispherectomy;
• Brain shift into the resection cavity, microvascular tearing, and dislodging of the remaining hemisphere. The incidence of these risks is unknown.

Figure 3. Right anatomic hemispherectomy

Functional hemispherectomy

Functional hemispherectomy is any procedure which disables the function of one cerebral hemisphere but does not remove the hemisphere itself.

Rasmussen was the first epilepsy surgeon to develop the functional hemispherectomy technique and is the most common technique today. The temporal lobe is removed but the frontal pole and occipital pole are preserved. This provides access to connections in the front and back of the hemisphere and the midbrain which the surgeon cuts and allows the surgeon to perform a complete corpus callosotomy. The brain that is left behind is living because the veins and arteries which provide its blood supply are not cut. For this reason, the remaining part of the brain may still seize, but because the axonal connections are severed, the seizures do not spread and have no effect.

Risk of this procedure include incomplete disconnection. Incomplete disconnection rates have been reported between 7 – 52%, thus requiring reoperation.

Figure 4. Left Functional Hemispherectomy

Hemispherotomy

Although often classified as a type of functional hemispherectomy, hemispherotomies are technically different than functional hemispherectomy. As with functional hemispherectomy, living brain is left behind with an intact blood supply, but the diseased/affected hemisphere of the brain is disconnected from healthy brain. In the last 25 years, there has been a shift towards the functional hemispherectomy and hemispherotomy due to the significant risks of a true anatomical hemispherectomy.

The distinction between hemispherotomy and functional hemispherectomy is that in hemispherotomy less brain tissue is removed than in functional hemispherectomy in order to reduce the chances of excessive bleeding during surgery, hydrocephalus, and tearing of very small blood vessels and veins over time which can lead to superficial hemosiderosis. Because so little brain tissue is removed, the surgeon is really making a hole (or holes) in the hemisphere (-otomy) rather than removing large sections of brain (-ectomy).

The different hemispherotomy techniques were introduced in the 1990s and include the modified lateral hemispherotomy, the vertical parasagittal hemispherotomy, and the peri-insular hemispherotomy. These techniques are continually refined today and are the main technique used at most epilepsy centers in the 21st century. It is important to note that techniques may vary from center to center.

Peri-Insular Hemispherotomy

First described in 1995, there have been several modifications to this technique over the years. In this technique, the surgeon will disconnect the affected hemisphere through the ventricles of the brain (the areas in red below). Because the ventricles are very deep within the brain, the surgeon must create several “windows” or holes through the brain so the ventricles can be accessed. These holes are cut through the affected hemisphere above and below the insular cortex (thus the name peri (around) insular hemispherotomy.) Very little brain matter is removed during surgery.

What are the benefits of peri-insular hemispherotomy?

Generally, the benefits of this procedure are shorter time in surgery and less intraoperative blood loss than other hemispherectomy techniques. Some children, however, may require blood transfusion during surgery.

What are the risks of peri-insular hemispherotomy?

The greatest risk of peri-insular hemispherotomy is incomplete disconnection.

Post-operative fevers, meningitis, and irritability are reported as less after peri-insular hemispherotomy than other techniques. Some research shows that the incidence of hydrocephalus after peri-insular hemispherotomy is as low as 0 – 4%; however, a recent large study of 690 children and adults who have had hemispherectomy shows the rate as high as 23% for functional hemispherectomy in general. Parents should continue to look out for symptoms of hydrocephalus throughout the lifespan.

Death is extremely rare after peri-insular hemispherotomy. Only two are reported in the literature. One was due to brain swelling from stroke in the disconnected hemisphere or bleeding. One case is believed to have been caused by brain shift.

Seizure control rates are reported as high as 90% after peri-insular hemispherotomy. The highest seizure control rates are reported where the condition which causes the seizures is stroke or Rasmussen’s encephalitis; the lowest seizure control rates are with cortical dysplasia and hemimegalencephaly

Modified Lateral Hemispherotomy

Modified lateral hemispherotomy is similar to peri-insular hemispherotomy, but differs because:

1. the middle cerebral artery is severed to limit blood loss and
2. a central block of cortex (the operculum) is removed to allow the surgeon access to the ventricles, remove the insula, and portions of the basal ganglia and thalamus. The anterior temporal lobe is also removed.

Hydrocephalus is also a post-operative risk, with 23% of children developing hydrocephalus after functional hemispherectomy.

Hemispherectomy procedure

Before hemispherectomy surgery

A thorough pre-surgical evaluation is essential to confirm that there is no other treatment option. This may include:

• EEG and MRI to help identify the dysfunctional hemisphere
• functional mapping using fMRI, a Wada test or MEG to determine which hemisphere is dominant for critical functions such as speech and memory (if the child is old enough)
• neuropsychological tests to establish your child’s baseline functioning.

The surgeon and the team will explain the surgery to you and discuss all related issues. They will instruct you on any specific steps to take prior to the operation.

They will also discuss post-operative symptoms, any intensive care and rehabilitation that will be required and possible ongoing deficits and care.

Hemispherectomy surgery

The operation will take about six hours and will require a general anaesthetic. Children are given a general anesthesia prior to the surgery. To prepare for the surgery, part of your child’s hair will be shaved.

An incision will be made and a craniotomy will be performed (removal of a piece of the skull that will be replaced at the end of the surgery). The surgeon may remove some parts of the brain and disconnect other parts. The corpus callosum will be cut to prevent the spread of seizures to the functional side of the brain.

Formerly, the entire cortical mantle was removed (also called “anatomic hemispherectomy”). However, this technique was associated with a late complication characterized by hemorrhage into the large resection cavity, which became filled with cerebrospinal fluid. Sensorineural hearing loss occurred as rising iron levels in the spinal fluid from the breakdown of blood gradually proved toxic to the eighth cranial nerve. Another complication was the occurrence of hydrocephalus.

Current techniques entail disconnecting the white matter fiber connections from the entire cortex to the opposite hemisphere and to the deeper brain structures, while leaving intact the brain substance and vascular structures supporting these cortical areas (also called “functional hemispherectomy”). This method has a similar success rate for most conditions, except for hemimegalencephaly. Because the empty postoperative cavity in the affected half of the cranium is minimized, the complications associated with anatomic hemispherectomy are greatly reduced.

At the end of the procedure, the skull will be replaced and the scalp will be sutured closed. The surgery takes about six hours.

What to expect after hemispherectomy surgery

Your child will be in the Intensive Care Unit (ICU) overnight or until he or she is medically stable enough to go to another nursing unit. While still in the ICU, your child will be observed continuously and blood pressure, pulse and respiration will be checked frequently.

Once out of the ICU your child will probably require an additional five to seven days of hospitalization. Inpatient or outpatient rehabilitation may be necessary to optimize your child’s recovery. Your child will be evaluated carefully over the next few months to see what effect surgery had on the seizures and whether there are persistent complications.

Hemispherectomy side effects

Most children have excellent long-term results following hemispherectomy with no unexpected adverse outcomes. Occasionally, however, some complications may occur.

• Early complications, which occur either during the intraoperative (complications from anaesthetic) or immediate postoperative period include intraoperative blood loss, electrolyte changes, hypothermia, cerebral edema (swelling) and aseptic meningitis.
• Late onset complications can occur months or years after the hemispherectomy. These hydrocephalus or accumulation of cerebrospinal fluid within the ventricles of the brain and recurrence of seizures, though rare, can be life threatening and need to be treated urgently. Hydrocephalus may require insertion of a shunt, which diverts the fluid to another compartment of the body, where it is absorbed naturally.

Hydrocephalus is the most significant risk after hemispherectomy surgery. This risk is across the lifespan, with cases reported ten or more years after surgery. Approximately 23% of patients will develop hydrocephalus, with 27% of those children developing hydrocephalus 90 days or more after surgery. The risk of developing hydrocephalus is 20% after functional hemispherectomy and 30% after anatomical hemispherectomy. Children with hemimegalencephaly have a higher chance of developing hydrocephalus – about 40%.

Blood loss requiring transfusion is also risk, especially for babies and infants. In very rare cases, stroke, brain swelling (cerebral edema), or other complications can occur.

Post-operative fevers are common after surgery and may occur for several months later. This is because blood product and protein in the cerebrospinal fluid from the surgery can irritate the brain, causing the body to respond as though there is an infection. Most surgeons use an external ventricular drain to evacuate blood product and other matter from the cerebrospinal fluid, as well as to monitor intracranial pressure. The use of this drain can also reduce the incidence of fevers after surgery.

Potential complications of hemispherectomy in children:

• Scalp numbness
• Nausea
• Fatigue
• Depression
• Headache
• Difficulty with speech and memory
• Developmental problems
• Loss of peripheral vision

Neuropsychological tests will be performed to detect any changes in your child’s function.

As with any surgery, there is a potential for complications. The major problems that could develop are bleeding and infection. Other risks of this procedure include developmental problems and loss of peripheral vision.

Weakness on the opposite side from the operation site may occur. But children can function with only half a brain because the remaining side takes over many of the functions of the half that was removed. If the surgery is done early in childhood, the child is more likely to compensate for the loss of one side of the brain.

Hemispherectomy recovery

After hemispherectomy surgery, children will spend 2-3 days in the pediatric intensive care unit (PICU) for close monitoring of their neurological status. Antiepileptic medications are continued at previous doses. Antiepileptic drug levels in the blood for some anti-epileptics, like carbamazepine and oxcarbazepine, are monitored during this period because of the drug interaction with anesthesia. An MRI is performed on the first postoperative morning to assess the brain after resection. Once the surgical drains are removed, the patient will be transferred to a regular pediatric nursing floor. Physical therapy, occupational therapy and speech therapy will be consulted based on the child’s needs. An average hospital stay slightly varies between patient to patient and usually ranges from 5 to 7 days. Length of stay decisions are made by the surgical team and are based on the child’s condition and recovery.

What happens after being discharged from hemispherectomy?

Upon discharge, rehabilitation services are often required to enhance recovery from a hemispherectomy. If medically indicated, the child may be transferred to a rehab facility for intensive physical, occupational and speech therapy. This is usually followed by home or outpatient services. If inpatient rehabilitation is not required, home or outpatient therapy visits are often indicated. Outpatient therapy can be provided through hospitals and free-standing facilities and schools. Parents should check with individual school systems to see if this is a service provided.

Cecostomy

Cecostomy is surgery to clear a child’s bowels of feces when other treatment has not worked. Cecostomy is used for children with fecal incontinence caused by major health problems. Fecal incontinence means your child can’t control his or her bowels. Symptoms can range from having severe constipation to having a bowel movement at an unexpected or embarrassing time.

Cecostomy is different from an enema that is used to ease constipation. An enema is given directly through the rectum to help free the feces. In a cecostomy, the healthcare provider puts a tube (catheter) into the first part of the large intestines (cecum). It is in the lower right abdomen. The provider injects liquid medicine into the cecum through this tube. The medicine helps coax the feces out of the body through the rectum.

A cecostomy tube (C-tube) is a thin plastic tube that is placed through the opening on the abdomen and directly into the cecum (first part of the large intestine) to help your child empty their bowel and to decrease the incidence of fecal incontinence (soiling). A cecostomy tube is inserted by an interventional radiologist using image guidance. For the first 10 days after the cecostomy tube insertion, your child should not use the cecostomy tube and will continue with their regular bowel regime. When the doctor inserts the cecostomy tube into your child’s cecum, they will also insert a small piece of medical wire attached to a thread (retention suture). You will have an appointment to have the retention suture removed.

Cecostomy tubes can help patients who have issues such as fecal incontinence (soiling) and severe constipation to be independent in their bowel management.

Putting the cecostomy tube in place is just the first step in easing fecal incontinence. After about a week, you will give your child an enema through the cecostomy tube at home, with guidance from your child’s doctor. This process will involve putting liquid into the cecostomy tube. This liquid will pass into the cecum to encourage a bowel movement. This is called an antegrade enema. Usually an enema is given by placing liquid into the rectum to help empty the bowel. This is called a retrograde enema. However, for an antegrade enema to be successful, it will require a lot of time and patience from the patient and their family. For this reason, getting a cecostomy tube is not an option for all patients.

Your child will likely need to have the catheter removed and replaced from time to time. It will have to be done for hygiene reasons and to lower the risk for complications.

Figure 1. Cecostomy tube

Footnote: A cecostomy tube (C-tube) is a thin plastic tube that is placed through an opening on the abdomen directly into the cecum to help your child empty their bowel. At first a temporary C-tube will be inserted. After six weeks, a long-term Chait trapdoor cecostomy tube will replace the temporary one.

Cecostomy tube uses

Your child may need a cecostomy if he or she has fecal incontinence and other treatments have not worked. But most children with this health problem will have success with other treatments.

Your child may be a candidate for a cecostomy tube if they:

• experience fecal incontinence with troublesome soiling.
• have experienced long-term severe constipation.
• do not respond well to rectal enemas or other methods.

Your child may also need the cecostomy procedure if he or she has any of the following:

• The anus isn’t letting feces pass as it should (imperforate anus)
• Spinal problems, such as spina bifida
• A combination of the above 2 health problems
• Other muscular problems

Your child may NOT be a candidate for a cecostomy tube if they:

• have had previous abdominal surgery.
• have excessive soft tissue between the skin surface and the cecum.
• are unable to sit for a prolonged period of time on the toilet.

Cecostomy procedure

Your child will need to stay in the hospital for the procedure to insert the cecostomy tube. The stay often lasts 1 to 2 days. Most of the time, the procedure will go as follows:

• Your child will get medicine through an IV (intravenous) line that helps him or her relax during the procedure. Your child may be put to sleep with general anesthesia.
• A healthcare provider usually inflates the colon with air until the cecum is expanded.
• Your doctor puts surgical tools through small cuts (incisions) in the skin and into the cecum. He or she attaches the bowel to the abdominal wall with stitches, sutures, or fasteners.
• Your doctor puts a special hollow needle into the cecum.
• Your doctor threads the catheter through this needle and into the cecum.

This procedure can also be done with a laparoscope. With this technique, the healthcare provider puts a laparoscope into a small incision in the belly button.

The process outlined above is what is done to insert the cecostomy tube. The cecostomy itself will then be done occasionally to relieve the bowels based on your child’s needs.

Preparing for the cecostomy procedure

Your child will have a clinic visit in the interventional radiology department before the procedure. This visit will usually take about two hours.

During the clinic visit you should expect:

• A health and nutrition history and a physical examination will be performed by the clinic nurse and registered dietician.
• An explanation of the procedure, and a review of the consent form with the interventional radiologist.
• A review of fiber and fluid intake with the registered dietician.
• Information on how to care for and use a C- tube with the clinic nurse.
• Information on transition of care from a pediatric institution to an adult facility that would be begin at 16 years of age.

It is important that your child is healthy on the day of the procedure. If your child starts to feel unwell or has a fever within two days before the cecostomy tube insertion, let your doctor know. Your child’s procedure may need to be rebooked.

Food, drink, and medicines before the procedure

Your doctor will tell you if your child will be required to clear their bowel beginning two days prior to the cecostomy tube insertion. If required, the bowel is cleared in the following way for a cecostomy tube insertion:

1. Two days before the procedure your child will start a clear fluid diet. They cannot have any solid food or milk during this time. Your child will continue a clear fluid diet until after the procedure and until the doctors tell you that it is alright to for them to eat solid food. If your child has special needs during fasting, please talk to your referring doctor in advance. Your child may need to be admitted to the hospital for a bowel washout.
   • Clear fluids include:
     • chicken, beef or other clear broth (without noodles)
     • clear apple juice
     • Kool-Aid
     • Gatorade
     • Pedialyte
     • ginger ale
     • popsicles
     • water
2. Your child will also need to take a medication called Pico-Salax to help clear their bowel before the procedure. Ask your referring doctor or the clinic nurse for instructions on how and when your child will need to take the medication.
3. After your child develops nearly clear rectal outflow, they should continue drinking clear fluids. This is important to prevent dehydration. Your child can have clear fluids up to three hours prior to the booked procedure time.
4. On the day of the procedure please give your child their regular morning medicines with a sip of water.
5. Medicines such as acetylsalicylic acid (ASA), naproxen or ibuprofen, warfarin or enoxaparin may increase the risk of bleeding. Do not give these to your child before the procedure unless they have been cleared first by their doctor and the interventional radiologist.

During the cecostomy tube insertion procedure

Children will have a general anaesthesia for cecostomy tube insertion.

At first, a temporary cecostomy tube is inserted through your child’s abdomen, into the cecum. A small hole is made in your child’s abdomen (most of the time on the right lower abdomen). The temporary cecostomy tube is then inserted using ultrasound and X-ray to guide it into the correct position in the cecum. The entire procedure takes 60 to 90 minutes. This temporary tube is straight with a curly end, like a pig’s tail, that keeps it in place. One or two small pieces of medical wire attached to a thread, called a retention suture, are used to hold the cecum close to the abdominal wall. This retention suture stays in for two weeks while the cecostomy tube tract heals. The temporary tube will remain 3 to 4 inches outside of the body and is fastened to the skin with tape. A dressing will cover the insertion site for two weeks after the procedure. About six weeks after the temporary cecostomy tube is inserted it will be replaced with a long-term Chait trapdoor cecostomy tube.

After the cecostomy tube insertion

Once the cecostomy tube insertion is complete, your child will be moved to the recovery area. The interventional radiologist will come and talk to you about the details of the procedure. As soon as your child starts to wake up, a nurse will come and get you. Your child will be closely monitored and medication for pain will be given when needed.

Your child may also need a contrast study. This test makes sure that the catheter is placed properly. For it, the healthcare provider injects contrast dye through the tube and into the cecum. Then the provider uses an X-ray to look at the dye to make sure that it travels into the cecum.

Going home

Your child will stay in hospital for three to five days after they have had a cecostomy tube inserted. Your child can go home when the doctor feels it is safe for them to do so. Further teaching and instruction on how to use and care for the cecostomy tube will be provided prior to your child’s discharge home.

During the first two weeks after the procedure, your child should not go into the water and they should avoid taking a bath or going swimming. After two weeks, the retention suture will be cut (this is a painless procedure) and the skin around the cecostomy tube will be assessed. Further support will also be provided to you and your child.

About six weeks after the temporary cecostomy tube is inserted, you will return to the interventional radiology department to have the tube replaced with a long-term Chait trapdoor cecostomy tube. This tube is less visible than the temporary cecostomy tube and lies almost flush to the skin. It takes only 15 to 30 minutes and your child will not have to stay in hospital overnight or have a general anaesthetic. These tubes are then changed yearly in the interventional radiology department.

Skin care

The cecostomy tube that is first put in is temporary and there will be a dressing over the insertion site. The cecostomy tube will be secured to the abdomen with a device to prevent it from moving around in the tract. Your child will need to have a dressing covering the insertion site for two weeks until their follow-up appointment. The dressing will need to be changed at least once a day or whenever it gets wet, soiled or loose.

Bowel care

For the first 10 days after the cecostomy tube insertion, your child should not use the cecostomy tube and continue with their usual bowel cleansing routine as per their doctor’s recommendations.

The cecostomy tube site takes approximately 10 days to heal. Starting on day 11, your child will begin using the cecostomy tube for regular bowel irrigations. During the first few weeks, you may need to make adjustments to the time you do the bowel irrigations and how you do them.

Cecostomy tube flush

For the first 10 days, you will need to flush the temporary cecostomy tube with 10 mL of normal saline twice a day to ensure the tube does not become blocked.

To make saline you will need:

• a large container
• table or kosher salt
• tap water (unboiled) room temperature or warm

Recipe: 2 cups (500 mL) water + 1 teaspoon of salt

You can make larger volumes of this recipe to help save you time. The saline solution can be kept on your counter top for four hours, or stored in the fridge for four days.

Cecostomy tube placement risks

Cecostomy tube insertion is a low-risk procedure. The risk may increase depending on your child’s condition, age and health.

The risks of a cecostomy tube insertion include:

• pain and discomfort
• bleeding and irritation at the tube site
• infection of the skin around the site where the tube was inserted, in the abdomen (peritonitis) caused by misplacing the catheter or a generalized infection in the body. If your child has a VP shunt, there is a risk of shunt or brain infection
• granulation tissue (growth of tissue at the tube site)
• bowel damage requiring surgery
• the cecostomy tube (catheter) gets displaced
• mechanical failure of the cecostomy tube.

Cecostomy tube common problems

Cecostomy tube moves

If the cecostomy tube looks longer or shorter, it may have moved. This can happen because the cecostomy tube comes in three sizes (small, medium, long), and often children are in between sizes. If the tube is sitting high off the skin, you can push it back in. If there is resistance when you try to push it back in, there may be a coil in the tract. This is not an emergency, but your child should be assessed in the interventional radiology department.

Cecostomy tube gets blocked

To unblock your child’s temporary cecostomy tube, you will need:

• a 10 mL syringe
• warm water

1. Fill a 10 mL syringe with warm water.
2. Connect the syringe to the end of the cecostomy tube.
3. Push and pull on the plunger of the syringe to move the liquid in and out of the cecostomy tube. That will help clear out any fecal material that might be in the way. You may have to try this a few times before the cecostomy tube is no longer blocked.
4. When the cecostomy tube is no longer blocked, fill the syringe with 10 mL of water and push it into the tube.
5. Take the syringe off the cecostomy tube and close it up.

If you are not able to unblock the temporary cecostomy tube, or your child’s trapdoor is blocked you will need to have the tube replaced in the interventional radiology department on the next working day. Call the clinic to arrange this.

Making saline solution for bowel irrigation

You can easily make saline to use for your child’s irrigation. To make saline you will need:

• a large container
• table or kosher salt
• tap water (unboiled) room temperature or warm

Recipe: 2 cups (500 mL) water + 1 teaspoon of salt

You can make larger volumes of this recipe to help save you time. The saline solution can be kept on your counter top for four hours, or stored in the fridge for four days.

How much saline and glycerin should I use for my child?

All children should cleanse their bowel with a saline solution either every day or every other day. Each child is different and will need different amounts of fluids for irrigation. For children that have hard stools, glycerin can be added to the saline solution. Talk to your doctor if you think your child needs this. The amount of saline and glycerin that your child will need depends on two things; how constipated they are and their weight. If you do not know how much saline or glycerin to use, please call your clinic during working hours and ask to speak to a nurse.

• The recommended amount of saline for your child is: 10–20 mL/kg per flush.
• The recommended amount of glycerin for your child is: 0.5–1.0 mL/kg/dose (max dose 60 mL/day.

It is important to remember that as your child grows and gains weight, they will need more saline and glycerin to cleanse their bowel.

What to do if nothing comes out in the toilet after you flush the bowel?

Often irrigating the bowel can take a long time. For most children, it takes 45 to 60 minutes to flush out their bowels.

If you irrigate your child’s bowel and nothing comes out after an extended period of time, your child may have a blockage in their bowel. There are several things you can try to unblock your child’s bowel.

• Massage your child’s abdomen clockwise to help the fluid move through.
• Have your child move around to help encourage the fluid to pass.

If your child is having a lot of cramping or discomfort and is having difficultly passing fluid, they should be seen by their doctor or go to the nearest Emergency Department. Your child may need a physical assessment and possibly an abdominal X-ray to see if they have a blockage of stool.

What do I do if my child is having accidents in between flushes?

Accidents can be caused by a number of things. Your child might:

• be constipated
• need a change to their diet and fluid intake
• have an infection
• need a change to their irrigation regime
• need a stool softener or bulking agent

If your child is having accidents in between flushes, call your doctor, the service who referred you or your clinic nurse during working hours to help sort out the cause of accidents. Your child may need to have some tests done if changes to their diet, regime and bulking agents do not help solve the problem.

Cecostomy tube falls out or gets pulled out

If your child’s cecostomy tube falls out, try to insert a Foley catheter to keep the hole to your child’s intestine open until a new cecostomy tube can be put in. The first six weeks after your child first gets their cecostomy tube is the most important time for healing. If your child’s cecostomy tube falls out within two weeks of when it was put in, you can try to insert a Foley catheter to stop the hole from closing. This is not an emergency, but the tube needs to be reinserted as soon as possible.

Putting the Foley catheter in when your child’s cecostomy tube comes out

In your supplies, you should have a soft tube called a Foley catheter. It will be one size smaller than your child’s cecostomy tube. Try to put the Foley catheter into the hole (opening) following the directions below. The sooner you try to put the Foley catheter into the hole the easier it will be. The longer the tube is out, the smaller the hole will become. If you cannot put the Foley catheter in, call the interventional radiology department during working hours. Go to the emergency department on holidays, weekends or at night.

You will need:

• lubricating jelly
• 8 French Foley catheter
• tape
• catheter plug with a protector cap

1. Wash your hands and the skin around your child’s cecostomy gently but thoroughly with soap and water.
2. Wet the tip of the catheter with a lubricating jelly such as K-Y Jelly or Muko. DO NOT use petroleum jelly (Vaseline).
3. Put the tip of the Foley catheter about 2 or 3 inches (4 to 6 centimeters) into the hole in your child’s abdomen where the cecostomy tube was. Measure the tube against your index finger.
4. Tape the Foley catheter to your child’s stomach. Plug it or bend it so stool will not leak out.
5. You can use the Foley catheter to give your child their bowel clean-out.
6. Call the interventional radiology department on the next working day to make an appointment for a cecostomy tube reinsertion. This is done as an outpatient. Your child will not need to stay overnight in the hospital.

Cecostomy tube causing skin problems

After the first 24 hours post-insertion, the cecostomy tube dressing must be changed daily and the skin around the cecostomy tube must be washed with soap and water.

Your child needs a dressing covering the cecostomy site for two weeks.

Red skin

Your child’s skin may get sore and red because of:

• acidic juices from the intestine leaking out around the cecostomy tube
• the cecostomy tube moving around too much in its hole
• an incorrect tube size that may be causing pressure on the skin
• infection

Infection

Your child may have an infection if:

• the skin around the cecostomy tube is redder than usual and redness is spreading
• there is a change in the color and thickness of the liquid leaking around the cecostomy tube
• there is swelling, or you feel warmth around your child’s C- tube or your child is in pain
• your child has a fever
• there is pus draining from the stoma

If your child has any of these signs, call your doctor.

Granulation tissue

Extra tissue that grows around the cecostomy tube is called granulation tissue. Granulation tissue is not harmful. It looks red, moist and may bleed easily when rubbed. The tissue may have yellow sticky drainage. Pressure and friction from the cecostomy tube and moisture around the site may contribute to the growth of granulation tissue. Granulation tissue can be treated at home with saline soaks. Call your family doctor or referring service to request an appointment for treatment. Do not apply any creams directly to the hole.

Protecting your child’s skin

If there is liquid leaking out from around your child’s cecostomy tube that makes the skin burn and feel itchy, then protect the skin with a zinc based barrier cream. Zincofax and Ihles Paste are barrier creams that you can buy in your local drugstore.

How to treat problems with your child’s skin?

If your child has problems with their skin, you can use a warm salt water soak to dry out and soothe the area around the cecostomy tube. Soak the skin with salt water three to four times a day when your child has a skin problem.

To make a salt water soak:

1. Measure 1 cup of warm water and 2 teaspoons of table salt in a clean cup or bowl.
2. Stir the salt into the warm water until the salt dissolves and disappears.
3. Wet a piece of gauze or a strip of a clean cotton face cloth in the warm salt water.
4. Place the wet gauze or cloth around the cecostomy tube on the skin of your child’s abdomen. Leave for 30 minutes. Your child needs a salt water soak three to four times a day when they have a problem with their skin. Reduce how often you give your child a salt water soak as their skin heals.

If you have trouble taking the tape off your child’s skin, put a wet face cloth over the tape for a few minutes before you take it off.

It is also very important to make sure that your child’s skin is dried well around and under the cecostomy tube after salt soaks and bathing.

Birth injuries

Birth injuries also called birth traumas are physical injuries experienced during childbirth and can affect either the mother or the baby. In newborn babies, a birth injury often called ‘neonatal birth trauma’ can include many things, from bruising to a broken bone. In mothers, birth injuries range from tearing in the vaginal area to damage to the pelvic floor. The National Vital Statistics Report defines birth injury as “an impairment of the neonate’s body function or structure due to an adverse event that occurred at birth” ¹⁾.

Birth injuries include a wide range of minor to major injuries that may occur due to various mechanical forces during labor and delivery. Birth injuries are different from birth defects or malformations and are often easily distinguishable from congenital defects by a focused clinical assessment. Birth trauma rates have steadily declined over the last few decades due to refinements in obstetrical techniques and the increased use of cesarean delivery in cases of dystocia or difficult vaginal deliveries. The birth trauma rate fell from 2.6 per 1000 live births in 2004 to 1.9 per 1000 live births in 2012. The rates of instrumental deliveries have also gradually declined over the past three decades with a reduction in the number of both forceps and vacuum-assisted deliveries ²⁾.

The risk factors associated with birth injury can group into those related to the fetus, pregnancy, mother or iatrogenic factors (use of instrumentation during delivery) ³⁾. Fetal and pregnancy-related factors include macrosomia (estimated fetal weight greater than 4000g), macrocephaly, very low birth weight, extreme prematurity, fetal congenital anomalies, oligohydramnios and malpresentations including breech presentation as well as other abnormal presentations (such as the face, brow, or transverse). Maternal factors may include maternal obesity, maternal diabetes, cephalopelvic disproportion, small maternal stature, primiparity, dystocia, difficult extraction, use of vacuum or forceps, prolonged or rapid labor ⁴⁾.

The clinical management and prognosis of infants with birth injuries vary widely depending on the type and severity of the injury. The common sites for birth trauma can include the head, neck, and shoulders. Other less common locations include the face, abdomen, and lower limbs. A summary of the common traumatic clinical conditions occurring related to birth is listed below.

The following are common birth injuries:

• Swelling or bruising of the head
• Bleeding underneath one of the cranial bones.
• Breakage of small blood vessels in the eyes of a baby
• Facial nerve injury caused by pressure on the baby’s face
• Injury to the group of nerves that supplies the arms and hands
• Fracture of the clavicle or collarbone

Skeletal injuries

Most of the fractures resulting from birth trauma are associated with difficult extractions or abnormal presentations. Clavicular fractures are the most common bone fracture during delivery and can occur in up to 15 per 1000 live births. The clinical presentation is significant for crepitus at the site of fracture, tenderness and decreased movement of the affected arm with an asymmetric Moro reflex. Clavicular fractures have a good prognosis with spontaneous healing occurring in the majority of infants. The humerus is the most common long bone to fracture during birth, and this can be associated with a brachial plexus injury. The clinical presentation could be similar to a clavicular fracture with an asymmetric Moro reflex, inability to move the affected arm. Also, a significant deformity might be noted on the affected arm with swelling and tenderness at the site of the fracture. Rare conditions may involve a distal humeral epiphyseal separation due to birth trauma requiring expert orthopedic intervention ⁵⁾. In general, immobilization for 3 to 4 weeks is necessary and often heals well without deformities. Other fractures such as femur fracture, rib fractures can occur during birth but are rare ⁶⁾. On the other hand, femur fractures are extremely rare in newborns and may be seen in difficult vaginal breech extraction deliveries. Diagnosis is made by clinical exam with tenderness, swelling, and deformity of the thigh and confirmed further on plain radiographs. Orthopedic consultation is the recommendation for long bone fractures for appropriate immobilization.

What causes birth injury?

A difficult birth or injury to the baby can occur because of the baby’s size or the position of the baby during labor and delivery. Conditions that may be linked to a difficult birth include:

• Large babies. Birthweight over about 8 pounds, 13 ounces (4,000 grams).
• Abnormal birthing presentation. The baby is not head-first in the birth canal
• The baby is born prematurely or too early. Babies born before 37 weeks (premature babies have more fragile bodies and may be more easily injured).
• Cephalopelvic disproportion. The size and shape of the mother’s pelvis or birth canal is not adequate for the baby to be born vaginally.
• Labor is difficult or very long. An example of this is when contractions aren’t strong enough to move the baby through the birth canal.
• The mother is very overweight
• There is a Cesarean delivery
• Devices, like vacuum or forceps, are used to deliver the baby

Treating birth injury in babies

Most birth injuries in babies are temporary. If the injury was to the soft tissue, then no treatment is normally needed — the medical team will just monitor the baby and may run tests to check for other injuries.

If there has been a fracture, your baby may need an x-ray or other imaging. The limb may need to be immobilised and some babies may need surgery.

If your baby has damaged nerves, the medical team will monitor them closely and recovery can take a few weeks. For more serious nerve damage, your baby may need special care.

Shoulder dystocia birth

Shoulder dystocia is a birth injury that happens when one or both of a baby’s shoulders get stuck inside the mother’s pelvis during labor and birth. In most cases of shoulder dystocia, babies are born safely. But it can cause serious problems for both mom and baby. Dystocia means a slow or difficult labor or birth.

It’s often hard for health care providers to predict or prevent shoulder dystocia. They often discover it only after labor starts. Shoulder dystocia happens in 0.2 to 3 percent of pregnancies.

Shoulder dystocia key points

• Shoulder dystocia is a birth injury that happens when one or both of a baby’s shoulders get stuck inside the mother’s pelvis during labor.
• In most cases of shoulder dystocia, babies are born safely. But it can cause problems for both mom and baby.
• It’s often hard for health care providers to predict or prevent shoulder dystocia.
• When shoulder dystocia happens, your provider tries to move your body and your baby into a better position to help get your baby out.
• If your doctor recommends a scheduled C-section (cesarean section), ask if you can wait until at least 39 weeks to give your baby time to develop before birth.

Who is at risk for shoulder dystocia?

Shoulder dystocia can happen to any woman. Scientists do know that some things may make you more likely than others to have shoulder dystocia. These are called risk factors. A risk factor is something that makes you at risk for a condition. Having a risk factor doesn’t mean for sure that you’ll have shoulder dystocia. And risk factors for shoulder dystocia don’t seem to be helpful in predicting if you’ll have it. It’s hard for providers to predict or prevent.

Risk factors for shoulder dystocia include:

• Macrosomia. This is when your baby weighs more than 8 pounds, 13 ounces (4,000 grams) at birth. If your baby is this large, you may need to have a cesarean birth (also called c-section). This is surgery in which your baby is born through a cut that a doctor makes in your belly and uterus (womb). Most babies with macrosomia who are born vaginally (through the vagina) don’t have shoulder dystocia. In most cases of shoulder dystocia, the baby’s weight is normal.
• Having preexisting diabetes or gestational diabetes. Diabetes is a medical condition in which your body has too much sugar (called glucose or blood sugar) in your blood. This can damage organs in your body, including blood vessels, nerves, eyes and kidneys. Preexisting diabetes is when you have diabetes before you get pregnant. Gestational diabetes is a kind of diabetes some women get during pregnancy. Diabetes is a risk factor for having a large baby.
• Having shoulder dystocia in a previous pregnancy
• Being pregnant twins, triples or other multiples
• Being overweight or gaining too much weight during pregnancy

Conditions that are part of labor and birth also are risk factors for shoulder dystocia. These include:

• Getting a medicine called oxytocin to induce your labor (make your labor start).
• Getting an epidural to help with pain during labor. An epidural is pain medicine you get through a tube in your lower back that helps numb your lower body during labor. It’s the most common kind of pain relief used during labor.
• Having a very short or very long second stage of labor. This is the part of labor where you push and give birth.
• Having an assisted vaginal birth (also called operative vaginal birth). This means that your provider uses tools, like forceps or a vacuum, to help your baby through the birth canal. Forceps look like big tongs. Your provider places them around your baby’s head in the vagina to help guide your baby out. A vacuum is a suction cup that goes around your baby’s head in the vagina to help guide your baby out. This is the most common risk factor for shoulder dystocia.

What problems can shoulder dystocia cause?

Most moms and babies recover well from problems caused by shoulder dystocia.

Problems for the baby can include:

• Fractures to the baby’s clavicle (collarbone) and arm
• Damage to the brachial plexus nerves. These nerves go from the spinal cord in the neck down the arm. They provide feeling and movement in the shoulder, arm and hand. Damage can cause weakness or paralysis in the arm or shoulder. Paralysis is when you can’t feel or move one or more parts of your body.
• Lack of oxygen to the body (also called asphyxia). In the most severe cases, this can cause brain injury or even death. This is rare.

Problems for the mother can include:

• Postpartum hemorrhage. This is heavy bleeding after giving birth.
• Serious tearing of the perineum (the area between the vagina and the rectum). Surgery may be needed to repair the tearing.
• Uterine rupture. This is when the uterus tears during labor. This is rare.

Shoulder dystocia treatment

If your doctor thinks you may be at risk for shoulder dystocia, she can prepare you ahead of time for what to expect during labor and birth. And she can make sure staff and equipment are ready at the hospital.

If your doctor thinks your baby is large or if you have diabetes, your doctor may recommend scheduling a C-section. If so, ask about waiting until at least 39 weeks of pregnancy to have your baby. This gives your baby the time she needs to grow and develop before birth. Scheduling a c-section should be for medical reasons only. Your doctor may want to schedule a C-section if:

• She thinks your baby weighs at least 5,000 grams (about 11 pounds).
• You have diabetes and she thinks your baby weighs at least 4,500 grams (9 pounds, 15 ounces).

If you have shoulder dystocia, your doctor can try several methods to move you and your baby into better positions to open your pelvis wider and move your baby’s shoulders. Your doctor may:

• Press your thighs up against your belly. This is called the McRoberts maneuver.
• Press on your lower belly just above your pubic bone. This is called suprapubic pressure.
• Help your baby’s arm out of the birth canal
• Reach up into the vagina to try to turn your baby. Or turn you over so you’re on all fours (on your hands and knees).
• Give you an episiotomy. This is not done routinely but only in cases in which a larger opening to the vagina is helpful and the incision won’t affect the baby.
• Do a C-section, other surgical procedures or break your baby’s collarbone to release his shoulders. These are done only in severe cases of shoulder dystocia that aren’t resolved by other methods.

Newborn broken clavicle

Fractured clavicle newborn is the most frequently observed bone fracture as birth trauma and it is usually unilateral. Newborn broken clavicle is seen following shoulder dystocia deliveries or breech presentation of macrosomic newborns ⁷⁾. The clavicle is the most frequently fractured bone as birth trauma. Most clavicular fractures are of the greenstick type, but occasionally the fracture is complete. The major causes of clavicular fractures are shoulder dystocia deliveries in vertex presentations and extended arms in breech deliveries ⁸⁾. It is usually associated with vigorous, forceful manipulation of the arm and shoulder. However, fracture of the clavicle may also occur in infants following normal delivery ⁹⁾. It has been suggested that some fetuses may be more vulnerable to spontaneous birth trauma secondary to abnormal forces of labor, maternal pelvic anatomy and in utero fetal position ¹⁰⁾. Neonatal clavicle fractures are usually observed in unilateral whereas bilateral clavicle fractures are extremely rare. Because of its rarity we present two neonates with bilateral clavicle fracture.

The clavicle almost always heals with no problems. Clavicle fractures heal quickly on their own without treatment. Your doctor may recommend keeping your baby’s arm and shoulder still for several days. If so, this is done by putting the infant’s arm in a sling or pinning the infant’s sleeve to their shirt.

Figure 1. Fractured clavicle newborn

What are the long-term concerns for newborn broken clavicle?

Even for serious collarbone fractures, healing is usually excellent with no long-term problems. A bump may remain on the collarbone over the area of the break. This bump will slowly go away over time.

Newborn broken clavicle symptoms

The baby will not move the painful, injured arm. Instead, the baby will hold it still against the side of the body. Lifting the baby under the arms causes the child pain. Sometimes, the fracture can be felt with the fingers, but the problem often can’t be seen or felt.

Signs of a fractured clavicle in newborn:

• Your baby may hold the arm bent in front of the chest and not move it. This is called “pseudo paralysis.” The arm is not paralyzed. But moving the arm may be painful, so the baby avoids moving it.
• The broken area of the collarbone may move when pressed on, and may feel like it is “crunching.”
• A bump may be seen on the collarbone. This is called a fracture callus and is a sign that the fracture is healing.

Within a few weeks, a hard lump may develop where the bone is healing. This lump may be the only sign that the newborn had a broken collar bone.

Newborn broken clavicle diagnosis

The fracture may be found when the baby is examined soon after birth. An X-ray may be done to confirm the fracture. In some cases, the break is so mild that it is not diagnosed until the fracture callus begins to form and a bump is noticed at the collarbone.

Newborn broken clavicle treatment

Generally, there is no treatment other than lifting the child gently to prevent discomfort. Occasionally, the arm on the affected side may be immobilized, most often by simply pinning the sleeve to the clothes.

Newborn broken clavicle prognosis

Full recovery occurs without treatment.

Hematoma on newborn head

Hematoma on newborn head refer to a group of extracranial injuries that occur during delivery and are secondary to edema (swelling) or bleeding into the varying locations within the scalp and skull. Bleeding outside of the skull bones can lead to an accumulation of blood either above or below the thick fibrous covering (periosteum) of one of the skull bones.

• Swelling and bruising of the scalp is common but not serious and generally resolves within a few days.
• Scalp scratches can occur when instruments (such as monitor leads attached to the scalp, forceps, or vacuum extractors) are used during a vaginal delivery.
• A cephalhematoma is blood accumulation below the periosteum. Cephalohematomas feel soft and can increase in size after birth. Cephalohematomas disappear on their own over weeks to months and almost never require any treatment. However, they should be evaluated by the pediatrician if they become red or start to drain liquid.
• A subgaleal hemorrhage is bleeding directly under the scalp above the periosteum covering the skull bones. Blood in this area can spread and is not confined to one area like a cephalohematoma. It can cause significant blood loss and shock, which may even require a blood transfusion. A subgaleal hemorrhage may result from the use of forceps or a vacuum extractor, or may result from a blood clotting problem.
• Fracture of one of the bones of the skull may occur before or during the birth process. Unless the skull fracture forms an indentation (depressed fracture), it generally heals rapidly without treatment.

Figure 2. Hematoma on newborn head

Footnotes: (A) Caput succedaneum, (B) Cephalhematoma, (C) Subgaleal hemorrhage

Figure 2. Extracranial haemorrhage in a newborn

Caput succedaneum

Caput succedaneum is swelling of the scalp in a newborn. It is most often brought on by pressure from the uterus or vaginal wall during a head-first (vertex) delivery. The edema in caput succedaneum crosses the suture lines. It may involve wide areas of the head or it may just be a size of a large egg. A caput succedaneum may be detected by prenatal ultrasound, even before labor or delivery begins. It has been found as early as 31 weeks of pregnancy. Very often, this is due to an early rupture of the membranes or too little amniotic fluid. It is less likely that a caput will form if the membranes stay intact.

A caput succedaneum is more likely to form during a long or hard delivery. It is more common after the membranes have broken. This is because the fluid in the amniotic sac is no longer providing a cushion for the baby’s head. Vacuum extraction done during a difficult birth can also increase the chances of a caput succedaneum.

Caput succedaneum causes

• Mechanical trauma of the initial portion of scalp pushing through a narrowed cervix
• Prolonged or difficult delivery
• Vacuum extraction

The pressure on baby’s head at birth interferes with blood flow from the area causing a localized edema. The edematous area crosses the suture lines and is soft. Caput Succedaneum also occurs when a vacuum extractor is used. In this case, the Caput Succedaneum corresponds to the area where the extractor is used to hasten the second stage of labor.

Caput succedaneum symptoms

Caput succedaneum symptoms may include:

• Soft, puffy swelling on the scalp of a newborn infant (edematous region above the periosteum that crosses suture lines)
• Visualize pitting edema on physical exam
• Presents at birth, typically after prolonged or difficult labor due to compression against bony prominence of maternal pelvis
• Possible bruising or color change on the scalp swelling area
• Swelling that may extend to both sides of the scalp
• Swelling that is most often seen on the portion of the head which presented first
• Usually resolves within a few days and requires no further treatment

Caput succedaneum possible complications

Complications may include a yellow color to the skin (jaundice) if bruising is involved.

Complications to look out for include long term scarring and alopecia. Halo scalp ring is an alopecic ring that can develop after resolution

Caput succedaneum diagnosis

Your health care provider will look at the swelling to confirm that it is a caput succedaneum. No other testing is needed.

Caput succedaneum treatment

No treatment is needed. The problem most often goes away on its own within a few days.

Caput succedaneum prognosis

Complete recovery can be expected. The scalp will go back to a normal shape.

Cephalohematoma

A cephalohematoma is a collection of blood between the periosteum of a skull bone and the bone itself that has seeped under the outer covering membrane of one of the skull bones. The swelling with cephalohematoma is not present at birth rather it develops within the first 24 to 48 hours after birth. Cephalohematoma occurs in one or both sides of the head. Cephalohematoma occasionally forms over the occipital bone. This is usually caused during birth by the pressure of the head against the mother’s pelvic bones. The lump is confined to one side of the top of the baby’s head and, in contrast to caput succedaneum, may take a week or two to disappear. The breakdown of the blood collected in a cephalohematoma may cause these infants to become somewhat more jaundiced than others during the first week of life.

Cephalohematoma key points:

• Subperiosteal bleed due to rupture of vessels beneath the periosteum
• Presents within the first 24 to 48 hours after birth as swelling that does NOT cross suture lines
• Can have some discoloration
• More common when forceps or vacuum delivery is performed
• Usually doesn’t expand after delivery
• If one notices expansion pursue imaging and work up for source of continuing bleed
• Resolves spontaneously over course of a few weeks
• May cause indirect hyperbilirubinemia due to absorption of the bleed
• Monitor for calcification and ossification, which can result in deformity of skull
• If the cephalohematoma becomes erythematous and fluctuant, infection might be present. Most commonly due to E. coli infection. Must do incision and drainage of abscess and debridement of necrotic skull if needed

Cephalohematoma causes

• Rupture of a periostal capillary due to the pressure of birth
• Instrumental delivery

Cephalohematoma signs and symptoms

Swelling of the infant’s head 24-48 hours after birth
Discoloration of the swollen site due to presence of coagulated blood
Has clear edges that end at the suture lines

Cephalohematoma treatment

• Observation and support of the affected part.
• Transfusion and phototherapy may be necessary if blood accumulation is significant

Subgaleal hematoma newborn

Subgaleal hemorrhage is bleeding or an accumulation of blood in the loose connective tissue of the subgaleal space (the loose areolar tissue space between the galea aponeurotica and the periosteum of the skull), directly under the scalp above the periosteum covering the skull bones. Blood in this area can spread and is not confined to one area like a cephalohematoma. It can cause significant blood loss and shock, which may even require a blood transfusion. A subgaleal hemorrhage may result from the use of forceps or a vacuum extractor, or may result from a blood clotting problem. Subgaleal hemorrhage is associated with 12-25% mortality due to potential of hypovolemic shock with 20-40% neonatal blood volume shifting into subgaleal space.

Tractional and rotational forces with the use of vacuum extraction can result in rupture of veins and hemorrhage into different layers of the scalp. Most significantly, subgaleal hemorrhage may result from rupture of emissary veins into the subgaleal space. May be associated with perinatal hypoxia.

Subgaleal hemorrhage injury occurs when there is traction pulling the scalp away from the stationary bony calvarium, resulting in the shearing or severing of the bridging vessels. A difficult vaginal delivery resulting in the use of forceps or vacuum is the most common predisposing event in the formation of subgaleal hemorrhage. It has been estimated to occur in 1 in 2500 spontaneous vaginal deliveries without the use of vacuum or forceps and 59 of 10,000 vacuum-assisted deliveries ¹¹⁾. Since the subgaleal space is a significant potential space extending over the entire area of the scalp from the anterior attachment of the galea aponeurosis near the frontal bones to the posterior attachment at the nape of the neck, there is a potential for massive bleeding into this space that could result in acute hypovolemic shock, multi-organ failure, and death. Treatment includes supportive care with early recognition and restoration of blood volume using blood or fresh frozen plasma to correct the acute onset hypovolemia. The hemorrhage itself is not drained and allowed to resorb over time. A workup for bleeding disorders may be considered in selected cases if the degree of bleeding is out of proportion to the trauma at birth.

Subgaleal hemorrhage key points:

• Subgaleal hemorrhage bleed located between periosteum of skull and the aponeurosis
• Presents as fluctuant swelling of the head that may shift with movement
• Rapid loss of intravascular volume causes tachycardia and pallor
• Potential for loss of 20-40 percent of neonate’s blood volume
• Most are due to vacuum-assisted delivery, so monitor for following those deliveries
• Develops around 12-72 hours after delivery
• Early recognition is most important for survival
• Once suspected, monitor by serial measurements of hematocrit and frontal circumference
• Volume resuscitation with packed red blood cells, fresh frozen plasma, and normal saline to stabilize vitals
• May need surgical evacuation

Subgaleal hemorrhage causes

• Vacuum extraction: Subgaleal hemorrhage is often preceded by a difficult vacuum extraction with either incorrect positioning of the cup, prolonged extraction time (>20 minutes), >3 pulls or >2 cup detachments or failed vacuum extraction. Boo and colleagues ¹²⁾ also showed that nulliparity, 5 minute Apgar score < 8, cup marks on the sagittal suture, leading edge of cup <3 cm from anterior fontanelle or failed vacuum extraction were significant risk factors for subgaleal hemorrhage.

Other risk factors

• Maternal factors: Premature rupture of membranes (PROM) >12 hours,maternal exhaustion and prolonged second stage, previous high or mid cavity forceps delivery.
• Neonatal factors: Macrosomia, neonatal coagulopathy (vitamin K deficiency, Factor VIII deficiency, FactorIX deficiency), low birthweight, male sex (2:1 to 8:1), low Apgar scores (< 8 at 5 minutes), need for resuscitation at birth and cord blood acidosis, fetal malpresentation.

Subgaleal hemorrhage signs and symptoms

Local signs

• Early recognition in crucial for survival.Combination of inspection and palpation to confirm subgaleal hemorrhage.
• Diffuse, fluctuant swelling of head which may shift with movement. Palpation of the scalp has been described as a leather pouch filled with fluid.
• As the hemorrhage extends, elevation and displacement of the ear lobes and peri orbital oedema (puffy eyelids) can be observed.
• Irritability and pain on handling will be noted.
• Days later bruising appears behind the ears and or the eyelids.

Systemic signs:

• Signs consistent with hypovolemic shock: tachycardia, tachypnoea, dropping hematocrit on blood gases, increasing lactates or worsening acidosis, poor activity, pallor, hypotension and acidosis. Neurological dysfunction and seizures are a late sign.Ischemic end organ damage to liver or kidneys can manifest as worsening liver and renal function and this is a poor prognostic indicator.
• 6% of subgaleal hemorrhage cases are asymptomatic, 15-20% are mild, 40-50% are moderate and 25-33% are severe.
• Profound shock can occur rapidly with blood loss.

Subgaleal hemorrhage treatment

Initial Action: In the Delivery Suite and Postnatal Wards

• Administer intramuscular vitamin K as soon as possible.
• Level 1 surveillance (minimum for all infants delivered by instrumental delivery)
  • Baseline observations (activity, color, heart rate, respiratory rate, blood pressure and head circumference) at one hour.
  • Avoid hats/ bonnets (or remove frequently) to note head shape (increase in head circumference by 1cm may suggest 40mL blood seepage into subgaleal space).
  • Clinical concerns (to increase observation frequency/ escalate to Level 2 surveillance).
• Level 2 surveillance (Indicated: if vacuum extraction time total >20 minutes and/or > 3 pulls and/or > 2 cup detachments, clinical concerns from level 1 surveillance, at clinician’s request)
  • Take cord blood (acid base status, pH, and lactate).
  • Hematocrit / complete blood count (CBC) and platelet count.
  • Hourly observations for first 2hrs, then 2hrly for next 6hrs. Can extend observations for at least first 12-24 hours, consider saturation monitoring.
  • Document activity, color, heart rate, respiratory rate, blood pressure, head size and shape, location and nature of swelling.
• Level 3 surveillance (Indications: clinical suspicion of subgaleal hemorrhage immediately following delivery, clinical concerns on Level 2 surveillance)
  • Urgent review by paediatric senior registrar or consultant paediatrician. If subgaleal hemorrhage confirmed, consider admission to special care nursery.

Immediate Investigations:

• Full blood picture and Coagulation profile: On admission and repeated at clinical team’s discretion. Up to 81% of neonates with subgaleal hemorrhage may develop coagulopathy.
• Group and blood cross match (notify blood bank).
• Venous/capillary gas including lactate and base excess, electrolytes (2-4 hourly).
• Maintain blood glucose level > 2.6 mmol/L.

In the Neonatal Nursery

The basis of effective management is aggressive resuscitation to restore blood volume, provide circulatory support, correction of acidosis and coagulopathy.

Above investigations to be carried out after insertion of a peripheral intravenous access, which should be left indwelling for 12 hours if baby remaining in nursery.

• Ongoing monitoring:
  • Continuously monitor heart rate, respiration, oxygen saturation and blood pressure (non-invasively if no arterial line) at least for the first 24 hours.
  • Continue to assess capillary refill and peripheral perfusion.
  • Regularly observe and palpate scalp swelling to assess for continuing blood loss, change in head shape or head circumference (measure head circumference hourly for the first 6-8 hours of life), change in color, displacement of ears.
  • Volume replacement: 20 mL/kg of normal saline, if severe hypovolemia, request for urgent O negative blood and fresh frozen plasma (FFP).
  • Monitor urine output.
  • Repeat CBC and coagulations studies, (4-6 hours after initial assessment).
  • If coagulation studies are abnormal then correct with 20mLs/kg of Fresh Frozen Plasma. Consider giving Cryoprecipitate 5mLs/kg, if there is continued bleeding or the fibrinogen level are less than 1.5 g/l. Discuss with on call haematologist about the need for use of recombinant factor VIIa.
  • If thrombocytopenic, consider platelet transfusion (if platelet count<50).
  • Inotropes, vasopressors and multiple packed red cell transfusions may be required for severe cases of shock.
  • Ongoing assessment for jaundice.

Recognition of Hypovolemia

Pointers to significant volume loss include:

• A high or increasing heart rate (> 160 bpm), low or falling hemoglobin or hematocrit, poor peripheral perfusion with slow capillary refill (>3 seconds), low or falling blood pressure (mean arterial blood pressure (MBP) < 40 mmHg in a term baby), presence of or worsening of a metabolic acidosis.
• Consideration of a functional bedside echocardiography (by the attending neonatologist) can be useful in assessment of volume status. Small systemic veins and low ventricular filling volumes can be pointers to hypovolemia

Consider elective intubation and ventilation for worsening shock.

• Look for concomitant injuries:
  • Hypoxic ischaemic encephalopathy occurs in 62-72% of subgaleal hemorrhage. Brain trauma resulting in cerebral edema and/or intracranial hemorrhage occurs in 33-40%.
  • Less common: subdural hematoma, duraltear with herniation, superior sagittal sinus rupture, pseudomeningocoeleand encephalocoele, and subconjunctival and retinal haemorrhage. Elevated intracranial pressure (ICP) from the subgaleal hemorrhage mass effect is reported. Skull fractures may be associated. Once stabilized, consider neuroimaging (cranial ultrasound or MRI).

Skull fractures

Skull fractures from birth trauma are most often a result of instrumented vaginal delivery. These fractures could be linear or depressed and are usually asymptomatic unless associated with an intracranial injury. Plain film radiographs of the skull usually clarify the diagnosis, but computed tomography (CT) or magnetic resonance imaging (MRI) of the brain is the recommendation if there is suspicion of intracranial injury or presence of neurologic symptoms.

Intracranial hemorrhages

Traumatic intracranial hemorrhages include epidural, subdural, subarachnoid, intraventricular and less frequently intracerebral and intracerebellar hemorrhages.

• Epidural hemorrhage is very rare in neonates and usually accompanies linear skull fractures in the parietal-temporal region following an operative delivery. Signs include bulging fontanelle, bradycardia, hypertension, irritability, altered consciousness, hypotonia, seizures. Diagnosis is via CT or MRI of the head which shows a convex appearance of blood collection in the epidural space. Prompt neurosurgical intervention is necessary due to the potential to deteriorate rapidly.
• Subdural hemorrhage is the most common type of intracranial hemorrhage in neonates. Operative vaginal delivery is a major risk factor, and hemorrhage over the cerebral convexities is the most common site. Presenting signs/symptoms include bulging fontanelle, altered consciousness, irritability, respiratory depression, apnea, bradycardia, altered tone, and seizures. Subdural hemorrhages can occasionally be found incidentally in asymptomatic neonates. Management depends on the location and extent of the bleeding. Surgical evacuation is reserved for large hemorrhages causing raised intracranial pressure and associated clinical signs.
• Subarachnoid hemorrhage is the second most common type of neonatal intracranial hemorrhage and is usually the result of the rupture of bridging veins in the subarachnoid space. Operative vaginal delivery is a risk factor, and the infants are typically asymptomatic unless the hemorrhage is extensive. Ruptured vascular malformations are a rare cause of subarachnoid hemorrhages, even in the neonatal population. Treatment is usually conservative.
• Intraventricular hemorrhage even though most commonly seen in premature infants, can also occur in term infants depending on the nature and extent of the birth injury ¹³⁾. Intracerebral and intracerebellar hemorrhages are less common and occur as a result of occipital diastasis.

Cranial nerve injuries

Facial nerve is the most common cranial nerve injured with a traumatic birth. It occurs in up to 10 per 1000 live births and is usually a result of pressure on the facial nerve by forceps or from a prominent maternal sacral promontory during descent. Clinical manifestations include diminished movement or loss of motion on the affected side of the face. Facial nerve palsy requires differentiation from asymmetric crying facies which results from congenital hypoplasia of the depressor anguli oris muscle and causes a localized movement abnormality of the corner of the mouth. Although forceps delivery has a strong association, facial palsy can occur in the newborn without apparent trauma ¹⁴⁾. The prognosis in traumatic facial nerve injury is good with spontaneous resolution usually noted within the first few weeks of life.

Peripheral nerve and spinal cord injuries

Brachial plexus injuries

Brachial plexus injuries occur in up to 2.5 per 1000 live births and are the result of stretching of the cervical nerve roots during the process of delivery. Brachial plexus injuries are usually unilateral, and risk factors include macrosomia, shoulder dystocia, difficult delivery, breech position, multiparity and assisted deliveries ¹⁵⁾.

• Injury involving the fifth and sixth cervical nerve roots results in Erbs-Duchenne palsy manifested by weakness in the upper arm. Adduction and internal rotation of the arm with flexion of the fingers are presenting symptoms; this is by far the most common form of brachial plexus injury.
• Injury to eighth cervical and first thoracic nerves results in Klumpke’s palsy manifested by paralysis of the muscles of the hand, absent grasp reflex and sensory impairment along the ulnar side of the forearm and arm.
• Injury to all the nerve roots can result in total arm paralysis.
• Injury to the phrenic nerve can be an associated feature of brachial palsy. Clinical manifestations include tachypnea with asymmetric chest motion and diminished breath sounds on the affected side.

The majority of brachial plexus injuries are stretch injuries, and treatment is conservative with physical therapy playing a major role in the return of gradual function ¹⁶⁾. Rare, severe cases of brachial plexus injuries result in lasting weakness on the affected side.

Spinal cord injuries

Spinal cord injuries are infrequent in the neonatal period and are usually a result of excessive traction or rotation of the spinal cord during extraction ¹⁷⁾. The clinical manifestations depend on the type and location of the lesion. Higher lesions (cervical/upper thoracic) are associated with a high mortality rate and lower lesions (lower thoracic, lumbosacral) may result in significant morbidity with bladder and bowel dysfunction. Diagnosis is via ultrasonography or MRI of the spinal cord. Management points towards presenting clinical symptomatology with cardiorespiratory stabilization as needed.

Facial injuries

Ocular injuries

Subconjunctival hemorrhages are superficial hematomas seen under the bulbar conjunctiva, commonly seen in infants born after going through labor. It is suggested to be due to ruptured subconjunctival capillaries from venous congestion, occurring from increased back pressure in the head and neck veins. This injury can result from either a nuchal cord or from increased abdominal or thoracic compression during uterine contractions ¹⁸⁾. Subconjunctival hemorrhage is a benign condition in the newborn and resolves without intervention. A more significant ocular injury may occur with the use of instrumentation during delivery (forceps), resulting in corneal abrasions, vitreous hemorrhages, etc. that require immediate attention and referral to an ophthalmologist to prevent long term visual defects ¹⁹⁾.

Soft tissue injuries

Soft tissue injuries occurring as a result of birth trauma include petechiae, bruising, ecchymoses, lacerations and subcutaneous fat necrosis. Subcutaneous fat necrosis is thought to be a result of ischemic injury to the adipose tissue and characterized by palpation of soft, indurated nodules in the subcutaneous plane. These lesions resolve gradually over the course of a few weeks. Hypercalcemia is one of the complications; therefore it is recommended to monitor serum calcium ²⁰⁾. There are reports of accidental lacerations during cesarean section deliveries, with an Italian study showing a 3% incidence of accidental lacerations during cesarean sections, and a higher incidence in emergent deliveries compared to scheduled cesarean deliveries ²¹⁾.

Visceral injuries

Birth trauma resulting in abdominal visceral injuries is uncommon and primarily consists of hemorrhage into the liver, spleen or adrenal gland. The clinical presentation depends on the volume of blood loss and can include pallor, bluish discoloration of the abdomen, distension of the abdomen, and shock. Treatment is supportive with volume resuscitation and surgical intervention if needed.

Diurnal enuresis

Diurnal enuresis also called daytime enuresis or “daytime urine accidents”, is an unintended leakage of urine during waking hours in a child who is old enough to maintain bladder control. Primary diurnal enuresis is incontinence that persists beyond the age when a child otherwise would be expected to be toilet trained. Secondary diurnal enuresis is incontinence in a child who was toilet trained successfully and experienced at least 3 consecutive months of dry days.

Daytime wetting is twice as common in girls as it is boys. About 3 to 4 percent of children between the ages of 4 and 12 have daytime wetting. It is most common among young school-aged children.

Age	Bedwetting numbers
Age 5	About 1 in 6 children
Age 6	About 1 in 8 children
Age 7	1 in 10 children
Age 15	1-2 in 100 children

Daytime wetting should be considered a problem in a child older than 4 years of age who wets on most days, a child who previously was continent, or a child whose parents are concerned about the problem, regardless of the child’s age.

Although each child is unique, doctors often use a child’s age to decide when to look for a bladder control problem. In general:

• by age 4, most children are dry during the day
• by ages 5 or 6, most children are dry at night

Children can manage or outgrow most bladder control problems with no lasting health effects. However, accidental wetting can cause emotional distress and poor self-esteem for a child as well as frustration for families.

Bladder control problems can sometimes lead to bladder or kidney infections (UTIs). Bedwetting that is never treated during childhood can last into the teen years and adulthood, causing emotional distress.

Diurnal enuresis key points

• Daytime wetting should be considered a problem in a child who is older than 4 years of age or in a child who previously was continent.
• Urge syndrome is a common cause of wetting in preschool-and elementary-age children and presents with daytime and nighttime wetting, increased frequency of voiding, urgency, and squatting behavior.
• If a child who has a urinary tract infection continues to wet or has other symptoms of voiding dysfunction despite successful treatment of the infection, another cause of daytime wetting should be suspected.
• Most causes of daytime wetting can be determined by taking a thorough history, performing a complete physical examination, and obtaining a urinalysis. Ultrasonography of the kidney and bladder is a helpful noninvasive investigation.
• Management considerations for patients who have urge syndrome include a regular voiding routine, good posture during voiding, physiotherapy, prevention or treatment of urinary tract infection, and an anticholinergic medication.

Daytime wetting causes

Many children who have daytime urine accidents have a parent or other relative who did, too. Bedwetting often runs in families. Researchers have found genes that are linked to bedwetting. Genes are parts of the master code that children inherit from each parent for hair color and many other features and traits.

Daytime wetting in children is commonly caused by holding urine too long, constipation, or bladder systems that don’t work together smoothly. Health problems can sometimes cause daytime wetting, too, such as bladder or kidney infections (UTIs), structural problems in the urinary tract, or nerve problems.

When children hold their urine too long, it can trigger problems in how the bladder works or make existing problems worse. These bladder problems include:

• Overactive bladder or urge incontinence. Bladder muscles squeeze at the wrong time, without warning, causing a loss of urine. Your child may have strong, sudden urges to urinate. She may urinate frequently—8 or more times a day.
• Underactive bladder. Children only empty the bladder a few times a day, with little urge to urinate. Bladder contractions can be weak, and your child may strain when urinating, have a weak stream, or stop-and-go urine flow.
• Disordered urination. Muscles and nerves of the bladder may not work together smoothly. As the bladder empties, sphincter or pelvic floor muscles may cut off urine flow too soon, before the bladder empties all the way. Urine left in the bladder may leak.

Habits

There are some habits that your child may have that can lead to daytime wetting. These include:

• Waiting until the last minute before going to the bathroom.
• Not going pee often enough (you may find yourself saying: “It seems like they can hold their pee all day”).
• Not emptying their bladder all the way. This is called dysfunctional voiding.
• Children may squat down on their heels, cross their legs, or hold between their legs to keep from wetting. Other children may urinate (pee) small amounts often. These habits lead to incomplete urination, wetting and bladder infection.

Health conditions

There are health conditions that can contribute to daytime wetting. These include:

• Constipation can lead to decreased bladder capacity, problems emptying the bladder completely, and bladder spasms. Stool in the colon can create pressure on the bladder and cause spasms, which lead to daytime wetting
• Poor bathroom habits, such as not emptying the bladder completely or “holding it” for too long
• Urinary tract infection (UTI)
• Overactive bladder. Your child’s bladder squeezes without warning, causing frequent runs for the toilet and wet clothes.
• Underactive bladder. Your child uses the toilet only a few times a day, with little urge to do so. Children may have a weak or interrupted stream of urine.
• Disordered urination. Your child’s bladder muscles and nerves do not work together smoothly. Certain muscles cut off urine flow too soon. Urine left in the bladder may leak.
• Nerve problems, such those seen with spina bifida, a birth defect
• Vesicouretal reflux (VUR), backward flow of urine from the bladder to the kidneys
• Diabetes, a condition in which blood glucose, also called blood sugar, is too high
• Problems with the structure of the urinary tract, such as a blockage or a narrowed urethra
• Obstructive sleep apnea (OSA), a condition in which breathing is interrupted during sleep, often because of inflamed or enlarged tonsils. Sleepwalking and obstructive sleep apnea (OSA) can lead to bedwetting. With OSA, children breathe poorly and get less oxygen, which triggers the kidneys to make extra urine at night. Bedwetting can be a sign that your child has OSA. Other symptoms include snoring, mouth breathing, ear and sinus infections, a dry mouth in the morning, and daytime sleepiness.
• Stress. Stress can sometimes lead to bedwetting, and worry about daytime or nighttime wetting can make the problem worse. Stresses that may affect your child include a new baby in the family, sleeping alone, moving or starting a new school, abuse, or a family crisis.
• Making too much urine. Your child’s kidneys may make too much urine overnight, leading to an overfull bladder. If your child doesn’t wake up in time, a wet bed is likely. Often this excess urine at night is due to low levels of a natural substance called antidiuretic hormone (ADH). ADH tells the kidneys to release less water at night.

Children with medical conditions such as cerebral palsy, Down syndrome, neurologic conditions and attention deficit and hyperactivity disorder (ADHD) may continue to have daytime wetting at a later age than other children.

Daytime enuresis prevention

Often, you can’t prevent a bladder control problem, especially bedwetting, which is a common pattern of normal child development. However, good habits may help your child have more dry days and nights, including

• avoid or treat constipation.
• urinate every 2 to 3 hours during the day—4 to 7 times total in a day.
• drink the right amount of liquid, with most liquids consumed between morning and about 5 p.m. Ask your child’s health care provider how much liquid is healthy, based on age, weather, and activities.
• avoid drinks with caffeine or bubbles, citrus juices, and sports drinks. These drinks may irritate the bladder or produce extra urine.

Daytime enuresis signs and symptoms

Signs that your child may have a condition that causes daytime wetting include:

• the urgent need to urinate, often with urine leaks
• urinating 8 or more times a day, called frequency
• infrequent urination—emptying the bladder only 2 to 3 times a day, rather the usual 4 to 7 times a day
• incomplete urination—not fully emptying the bladder during bathroom visits
• squatting, squirming, leg crossing, or heel sitting to avoid leaking urine

Daytime enuresis diagnosis

Diurnal enuresis is only diagnosed in children 5 years or older. The tests used for diagnosing nighttime and daytime wetting are the same.

In most cases, enuresis is diagnosed based on a review of a complete medical history along with a physical exam. However, diagnostic tests may be used to determine if there is an underlying medical problem. These tests include:

• Urinalysis. The lab may also perform a urine culture, if requested. White blood cells and bacteria in the urine can be signs of a urinary tract infection.
• Urodynamic testing (a non-invasive test used to measure pattern and quality of urine flow). Urodynamic testing is a group of tests that look at how well the bladder, sphincters, and urethra are storing and releasing urine. These studies are not used often, but they may be helpful when simple bladder management methods are not as successful as expected.
• Ultrasound. An ultrasound uses sound waves to look at structures inside the body without exposing your child to radiation. During this painless test, your child lies on a padded table. A technician gently moves a wand called a transducer over your child’s belly and back. No anesthesia is needed.
• X-ray of the abdomen and pelvis
• Voiding cystourethrogram (VCUG). A voiding cystourethrogram uses x-rays of the bladder and urethra to show how urine flows. A technician uses a catheter to fill your child’s bladder with a special dye. The technician then takes x-rays before, during and after your child urinates. A VCUG uses only a small amount of radiation. Anesthesia is not needed, but the doctor may offer your child a calming medicine, called a sedative.
• MRI. Magnetic resonance imaging (MRI) uses magnets and radio waves to make pictures of the urinary tract and spine. During this test, your child lies on a table inside a tunnel-like machine. MRI scans do not expose your child to radiation. No anesthesia is needed, but the doctor may offer your child a calming medicine or suggest watching a children’s program during the test.

Daytime enuresis treatment

Treatments for daytime wetting depend on what’s causing the wetting, and will often start with changes in bladder and bowel habits. Your child’s doctor will treat any constipation, so that hard stools don’t press against the bladder and lead to wetting.

The most important thing you can do is be patient and understanding. Make sure your child knows that daytime wetting is a temporary problem, and that you are there to help.

Bladder training

If your child is having daytime urine accidents, try these steps:

• Create a schedule for your child to urinate at least every two to three hours during the day, even if she doesn’t feel like it. This is called“timed voiding”. They should go to the bathroom often and on a regular schedule at home, school, childcare and when out. It is important that they empty their bladder whether they feel like they need to pee or not.
• Children ages 3 to 8 need an adult to remind them to go to the bathroom on schedule at school. Letting them go to the bathroom “whenever they need to” does not work for children with dysfunctional voiding.
• Your child should not wait until they feel the urge to pee to go to the bathroom.
• Keep a diary of how often your child goes pee for the next two days. This shows your child’s current habits. It can also be a starting point from which to make improvements.
• Use a sticker chart to track your child’s trips to the bathroom, and reward progress.
• Make sure your child is eating a healthy, fiber-rich diet and drinking lots of fluids. This can help prevent constipation, a common cause of daytime wetting accidents.
• Help your child relax and not rush while urinating. Breathing deeply or putting their feet on a stool while sitting on the toilet can help.
• Eating less of foods such as citrus fruits (oranges, lemons, grapefruits, limes), acidic fruits (pineapples, tomatoes), carbonated beverages, caffeine and chocolate. These can irritate the bladder, leading to nighttime urine accidents.

Be positive and give support to your child. Punishment is not effective, and could make the situation worse.

In extremely rare cases, doctors may suggest using a thin, flexible tube, called a catheter, to empty the bladder. Occasional use of a catheter may help develop better bladder control in children with a weak, underactive bladder.

Emotional support

Let your child know that bedwetting is very common and most children outgrow it. If your child is age 4 or older, ask him or her for ideas on how to stop or manage the wetting. Involving your child in finding solutions may provide a sense of control.

Calming your child’s stresses may help—stresses about a new baby or new school, for example. A counselor or psychologist can help treat anxiety.

Medicine

Your child’s doctor may suggest medicine to limit daytime wetting or prevent a urinary tract infection (UTI).

Oxybutynin (Ditropan) is often the first choice of medicine to calm an overactive bladder until a child matures and outgrows the problem naturally.

If your child often has bladder infections, the doctor may prescribe an antibiotic, which is a medicine that kills the bacteria that cause infections. Your child’s doctor may suggest taking a low-dose antibiotic for several months to prevent repeated bladder infections.

Motivational therapy

For motivational therapy, you and your child agree on ways to manage bedwetting and rewards for following the program. Keep a record of your child’s tasks and progress, such as a calendar with stickers. You can give rewards to your child for remembering to use the bathroom before bed, helping to change and clean wet bedding, and having a dry night.

Motivational therapy helps children gain a sense of control over bedwetting. Many children learn to stay dry with this approach, and many others have fewer wet nights. Taking back rewards, shaming, penalties, and punishments don’t work; your child is not wetting the bed on purpose. If there’s no change in your child’s wetting after 3 to 6 months, talk with a health care professional about other treatments.

Apnea of prematurity

Apnea of prematurity is defined as a sudden cessation of breathing that lasts for at least 20 seconds or is accompanied by bradycardia (decrease in heart rate) or oxygen desaturation (cyanosis) in an infant younger than 37 weeks’ gestational age ¹⁾. The most widely used definition of apnea of prematurity specifies a pause of breathing for more than 15–20 seconds or accompanied by oxygen desaturation (SpO2 ≤ 80% for ≥4 seconds) and bradycardia (heart rate < 2/3 of baseline for ≥4 seconds), in infants born less than 37 weeks of gestation ²⁾. Apnea of prematurity is a developmental disorder that self-resolves. In most cases, apnea of prematurity likely reflects a “physiological” rather than a “pathological” immature state of respiratory control.

Apnea of prematurity is generally broken down into three subtypes. Central, obstructive, or mixed ³⁾. Central apnea accounts for approximately 10% to 25% of all cases of apnea, with obstructive apnea accounting for 10% to 25% and mixed for 50% to 75%. In each individual infant, one of these subtypes tends to predominate ⁴⁾.

1. Central apnea is due to the depressed respiratory center where there is a cessation of output from the central respiratory centers, and there is no respiratory effort.
2. Obstructive apnea occurs when there is an obstruction to the airway, and respiratory efforts are inadequate to maintain ventilation.
3. Mixed apnea (a period of central apnea, typically followed by airway obstruction) is the most frequent type among preterm infants.

Apnea of infancy is defined as “an unexplained episode of cessation of breathing for 20 seconds or longer, or a shorter respiratory pause associated with bradycardia, cyanosis, pallor, and/or marked hypotonia” ⁵⁾.

The incidence of apnea of prematurity is inversely correlated with gestational age and birth weight. Seven percent of neonates born at 34 to 35 weeks gestation, 15% at 32 to 33 weeks, 54% at 30 to 31 weeks ⁶⁾ and nearly all infants born at <29 weeks gestation or <1,000 g exhibit apnea of prematurity ⁷⁾.

The incidence of bradycardia is fairly similar across these different groups; however, bradycardia does appear to occur more frequently with longer duration of apnea. Bradycardia occurs in 10% of apneic events with duration of 10–14 s, 34% of apnea lasting 15–20 seconds and 75% of apnea that lasts >20 seconds. Bradycardia usually occurs following oxygen desaturation that is associated with apnea, with a recent study demonstrating an earlier onset of oxygen desaturation than bradycardia (median interval 4.2 seconds) ⁸⁾. However, recovery from bradycardia often precedes the recovery in oxygen saturation after apnea ⁹⁾. Bradycardia may also follow apnea without desaturation, possibly mediated by vagal nerve stimulation and not necessarily by hypoxemia.

Apnea of prematurity is a common problem affecting premature infants, likely secondary to a “physiologic” immaturity of respiratory control that may be exacerbated by neonatal disease ¹⁰⁾. These include altered ventilatory responses to hypoxia, hypercapnia, and altered sleep states, while the roles of gastroesophageal reflux and anemia remain controversial. Standard clinical management of the obstructive subtype of apnea of prematurity includes prone positioning and and nasal continuous positive airway pressure (NCPAP) or nasal intermittent positive pressure ventilation (NIPPV) to prevent pharyngeal collapse and alveolar atelectasis, while methylxanthine therapy is a mainstay of treatment of central apnea by stimulating the central nervous system and respiratory muscle function. Other therapies, including kangaroo care, red blood cell transfusions, and CO2 inhalation, require further study ¹¹⁾.

Most premature babies outgrow apnea as they mature. But sometimes your baby may be sent home with an apnea monitor. It should be used whenever you or your infant is sleeping and when you are busy. The apnea monitor alarms are very loud so don’t place the monitor next to your baby’s head. Check every alarm signal, even if you think it is a false alarm.

Classification of the severity of apnea

Criteria to classify the severity of apnea have not been well developed in clinical studies.

The University of Washington published indications for different treatments based on the severity of apnea of prematurity ¹²⁾. This classification for apnea of prematurity uses the terms spontaneous, mild, moderate, or severe. Note the following:

• A spontaneous event might be defined by apnea with minimal physiologic changes, an event of brief duration, one associated with self-recovery, or an event only occurring once or twice in 24 hours.
• Mild or moderate events involve apnea, bradycardia, and/or O2 desaturation of intermediate magnitude. These events require therapeutic interventions less rigorous than those needed for severe episodes.
• A severe event entails prolonged apnea associated with clinically significant and persistent bradycardia, as well as O2 desaturation (ie, central cyanosis). A severe event requires vigorous stimulation, administration of an increased concentration of inspired O2, and/or assisted ventilation (eg, bag-mask ventilation).

Clinical centers must develop the classification system they wish to use to measure the severity of apnea. Factors often used to judge the need for future interventions include these:

• Severity of the apnea
• Number of events per day
• Magnitude of the intervention required to alleviate the event

The therapeutic approach used in most neonatal intensive care units (NICUs) involves a progression from tactile stimulation to methylxanthine therapy and then some form of assisted breathing (eg, nasal continuous airway pressure or assisted ventilation).

Causes of apnea of prematurity

Although the cause of apnea of prematurity is not fully understood, several mechanisms have been proposed to explain this condition, including those described below.

In premature babies, the part of the brain and spinal cord that controls breathing is not yet mature enough to allow nonstop breathing. Apnea of prematurity can cause babies to have large bursts of breath followed by periods of shallow breathing or stopped breathing. The condition may have other causes. Some of these include:

• Bleeding in or damage to the brain
• Lung problems
• Infections
• Digestive problems such as reflux. Reflux is when the stomach contents move back up into the esophagus.
• Too low or too high levels of chemicals in the body, such as glucose or calcium
• Heart or blood vessel problems
• Triggering reflexes that lead to apnea. This might be from feeding tubes, suctioning, or a baby’s neck position.
• Changes in body temperature

Apnea of prematurity is the clinical phenomenon associated with incompletely organized and interconnected respiratory neurons in the brainstem and their response to a multitude of afferent stimuli. Therefore, the abnormal control of breathing seen in apnea of prematurity represents neuronal immaturity of the brain ¹³⁾.

In a premature neonate, protective respiratory reflex activity is decreased, and Hering-Breuer reflex activity is increased.

Dopaminergic receptors may have a role in inhibiting the responses of peripheral chemoreceptor and hypoxia-elicited central neural mechanisms. Evidence from studies of neonatal animals indicates that endogenous endorphin production may depress the central respiratory drive. Although endogenous opiates may modulate the ventilatory response to hypoxia in newborn animals, a competitive opiate receptor antagonist (naloxone) has no therapeutic role in apnea of prematurity.

Negative luminal pressures are generated during inspiration, and the compliant pharynx of the premature neonate is predisposed to collapse. Failure of genioglossus activation is most widely implicated in mixed and obstructive apnea among infants and adults.

The ability of medullary chemoreceptors to sense elevated CO2 levels is impaired. Therefore, an absent, small, or delayed response of the upper airway muscles to hypercapnia might cause upper airway instability when a linear increase in chest-wall activity also occurs. This impairment may predispose the infant to obstructed inspiration after a period of central apnea.

Another important factor to consider is the excitation of chemoreceptors in the larynx due to acid reflux. Laryngeal receptors send afferent fibers to the medulla and can elicit apnea when stimulated.

Swallowing during a respiratory pause is unique to apnea and does not occur during periodic breathing. Accumulation of saliva in the pharynx could hypothetically prolong apnea by means of a chemoreflex mechanism.

Some practicing neonatologists believe that gastroesophageal reflux (GER) is associated with recurrent apnea and have, therefore, treated preterm neonates with antacid and/or antireflux drugs. However, this assumption has been vigorously challenged.

Booth ¹⁴⁾ suggested that apneic episodes were reduced when esophagitis resolved because apnea clinically improved 1 or 2 days after the start of antireflux therapy. Therefore, neonatologists have treated xanthine-resistant apnea with H2 blockers, metoclopramide, thickened formula, and/or upright positioning during feeding. No controlled trials have demonstrated that antireflux drugs are effective in preventing apnea; on the contrary, recent data suggest that it may be harmful ¹⁵⁾.

Findings from several studies have not demonstrated a relationship between episodes of apnea and episodes of acid reflux into the esophagus.

Menon, Schefft, and Thach ¹⁶⁾ observed that regurgitation of formula into the pharynx after feeding was associated with an increased incidence of apnea in premature infants. As stated above, gastric fluids can possibly activate laryngeal chemoreflexes, leading to apnea.

Although well-designed, controlled clinical trials are few, scientists often say that aminophylline exacerbates reflux in infants with apnea. The relationship of gastroesophageal reflux to methylxanthines is based on the literature about asthma, and limited studies in neonatal only suggest its occurrence ¹⁷⁾. Some authors have not related the use of methylxanthine to severe gastroesophageal reflux disease ¹⁸⁾.

Fetal to neonatal transition

The fetus moves from an oxygen-poor environment, with PaO2 of 23–27 mmHg, to an oxygen-rich environment after birth that provides a fourfold increase in PaO2 ¹⁹⁾. The postnatal rise in PaO2 effectively silences peripheral chemoreceptors, resulting in delayed onset of spontaneous breathing, especially when neonates are exposed to 100% oxygen during postnatal resuscitation ²⁰⁾. Therefore, neonates need to quickly adjust their ventilation to adapt to the postnatal environment. The immature respiratory pattern and chemoreceptor function in premature infants may delay this postnatal adjustment, given fewer synaptic connections and poor myelination of the immature brainstem ²¹⁾.

Ventilatory response to hypoxia

The ventilatory response to hypoxia after birth in premature infants elicits an initial transient increase in respiratory rate and tidal volume that lasts for 1–2 min, followed by a late, sustained decline in spontaneous breathing that may last for several weeks ²²⁾. This late decline in spontaneous breathing is termed hypoxic ventilatory depression, which may be associated with the delayed postnatal respiratory adjustment that occurs in premature infants.

Peripheral chemoreceptor stimulation may also lead to apnea secondary to hypocapnia seen after hyperventilation ²³⁾. The CO2 level can decrease to a level near the apneic threshold (1–1.3 mmHg below baseline CO2 level) ²⁴⁾. The relative proximity of the apneic threshold of CO2, together with peripheral chemoreceptor activation in response to hyperventilation, may lead to apnea.

Ventilatory response to hypercapnia

In response to hypercapnia, premature infants increase ventilation by prolonging the period of expiration, but not increasing breath frequency or overall tidal volume, leading to less minute ventilation than that seen in term infants. This poor hypercapnic ventilatory response is more pronounced in premature infants with apnea than without apnea ²⁵⁾. Contradictory movements of respiratory muscles in response to hypercapnia may also play a role in apnea of prematurity. In a study of piglets exposed to hypercapnia, researchers found that resultant diaphragm activation prior to upper airway muscles activity results in obstructed inspiratory efforts and prolonged apneic events ²⁶⁾.

Ventilatory responses to laryngeal chemoreflex

Activation of the laryngeal mucosa in premature infants can lead to apnea, bradycardia, and hypotension ²⁷⁾. While this response is assumed to be a protective reflex, an exaggerated response may cause apnea of prematurity. This reflex-induced apnea is termed the laryngeal chemoreflex and is mediated through superior laryngeal nerve afferents ²⁸⁾.

Neurotransmitters and apnea

Enhanced sensitivity to inhibitory neurotransmitters, such as gamma-aminobutyric acid (GABA), adenosine, serotonin, and prostaglandin, is another feature of the premature infant’s respiratory control system ²⁹⁾. GABA is the major inhibitory neurotransmitter in the central nervous system. In piglets, GABAergic neurons were activated during hypercapnia ³⁰⁾. Blocking of GABAA receptors prevented ventilatory depression and increased respiratory rate in response to hypercapnia ³¹⁾.

Adenosine is a product of adenosine triphosphate and is formed as a consequence of metabolic and neural activity in the brain, especially during hypoxia. Recent reports have found an interaction between adenosine and GABA in the regulation of breathing ³²⁾. This association is further strengthened by the observations that adenosine receptors are expressed in GABA-containing neurons. The binding of adenosine to its receptor may be involved with the release of GABA and thus inhibit respiration leading to apnea ³³⁾.

Genetic variability and apnea

Recently, researchers found that the heritability of apnea of prematurity was 87% among same-gender twins ³⁴⁾. These findings raise the possibility that apnea of prematurity has an important genetic basis. Tamim et al. ³⁵⁾ first reported a higher proportion of first-degree mating for infants with apnea of prematurity compared with those without apnea of prematurity. Genomic studies may provide further information on the pathogenesis that underlies apnea of prematurity.

Apnea of prematurity symptoms

Apnea of prematurity is when a baby’s breathing has stopped for 20 seconds or more. Other signs and symptoms that may happen with apnea include:

• Bluish color to the skin (cyanosis)
• Decrease in heart rate (bradycardia)
• Low oxygen levels (hypoxia)

The symptoms of apnea of prematurity may look like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

Apnea of prematurity complications

Premature babies may have many problems. They often have to stay in the hospital for long periods of time. Apnea of prematurity is one of the problems of babies born too early. A slow heart rate and decreased oxygen levels in the blood may happen with apnea of prematurity. These babies are at risk for respiratory failure and death. They may also have long-term lung problems.

Infants born prematurely are at increased risk for apnea and bradycardia after undergoing general anesthesia or sedation with ketamine, regardless of their history of apnea. Because of this increased risk, defer elective surgery, if possible, until approximately 52-60 weeks after conception to allow the infant’s respiratory control mechanism to mature.

Apnea of prematurity diagnosis

It’s important to find out if the apnea is caused by prematurity or if it is caused by another problem. Your baby’s healthcare provider will examine your baby. He or she will check many of your baby’s body systems to find out what might be causing the apnea. Your baby’s breathing rate, heart rate, temperature, and blood pressure will be continuously checked. Tests used to diagnose the problem may include:

• Blood oxygen levels. Babies have their oxygen levels continuously checked.
• Blood tests. These check blood counts, blood sugar levels, and electrolyte levels. They also check for signs of infection.
• Lab tests. The fluid around the brain and spinal cord, urine, and stool may be checked for infection and other problems.
• X-ray, ultrasound, or other imaging studies. The healthcare provider may order X-rays or other pictures of the upper airways and lungs, brain, heart, or digestive system.
• Sleep studies. Vital signs and oxygen levels are checked.

Initial identification and assessment of apnea

The bedside caregivers—namely, the nurse in the neonatal intensive care unit (NICU) the respiratory care practitioner—identify the problem for the physician. Apnea should be distinguished from periodic breathing and documented. Use of a cardiorespiratory monitor is essential for identifying apnea of prematurity and for monitoring the patient’s blood pressure. Events associated with apnea, such as bradycardia and cyanosis, must be quantified. For bradycardia, the magnitude of reduction in heart rate from baseline and the duration of the event should be recorded. The presence and duration of central cyanosis should also be noted.

Pulse oximetry may be helpful for measuring the severity and duration of central O2 desaturation. Caregivers should be aware of the problems associated with the use of pulse oximetry to evaluate O2 saturation ³⁶⁾.

When apnea is observed, its duration must be established. Cardiorespiratory monitors can be used to quantify the duration. Caregivers should attempt to define the type and severity of the patient’s apnea. The type of apnea is identified as central, obstructive, or mixed. A nasal thermistor may be needed in conjunction with pneumography to differentiate the type of apnea.

Exclusion of other causes of apnea

Before a diagnosis of apnea of prematurity is made, other causes of apnea in neonates must be excluded.

All forms of apnea may be difficult to detect visually, although obstructive apnea is usually most obvious to a trained observer.

Cardiorespiratory monitoring and pulse oximetry have improved bedside detection of apnea of prematurity ³⁷⁾. Caregivers should familiarize themselves with the advantages and disadvantages of cardiorespiratory monitoring and pulse oximetry in neonates. Apnea, bradycardia, and desaturation events are very subjective in nature unless the standard definition is strictly followed. Current cardiorespiratory monitors are very sophisticated; however, their use and interpretation are also very subjective. Clinicians heavily rely on nursing documentation to make decisions. By introducing standard definitions, individual subjectivity may be reduced which, in turn, may lead to fewer interventions and potentially decrease the length of stay ³⁸⁾.

Developing a NICU-specific standardized approach to the apnea of prematurity leads to reduce variations among clinicians. Brief isolated events need not be treated same as apnea of prematurity e.g. spontaneously resolving events and feeding related events which improves with interruption of feeding ³⁹⁾.

Published findings show that even highly trained observers miss more than 50% of apnea of prematurity episodes.

Precise diagnosis of apnea of prematurity requires multichannel recordings, which are most commonly measurements of nasal airflow, thoracic impedance, heart rate, and O2 saturation. Expanded testing may include electroencephalography and/or use of an esophageal pH probe with a high thoracic Clark electrode. Hydrochloric acid may be added to the feedings to increase the gastric concentration of hydrogen ions.

Physical examination

Physical examination should include observation of the infant’s breathing patterns while he or she is asleep and awake. The prone or supine sleeping positions and other lying postures may be important during this clinical observation.

Important to the assessment of neonatal apnea is the identification of airway abnormalities (eg, choanal obstruction, anomalies of the palate, jaw deformities, neck masses) and conditions in distant organs that influence breathing (eg, brain hemorrhages, seizures, pulmonary disorders, congenital heart disease).

Findings in the head and neck and other obvious major and minor anomalies identified may suggest chromosomal abnormalities or a malformation syndrome. Appropriate work-up must then follow.

Physical examination elements

Monitor the baby’s cardiac, neurologic, and respiratory status.

Observe the infant for any signs of breathing difficulty, desaturation, or bradycardia during feeding.

Reflex effects of apnea include characteristic changes in heart rate, blood pressure, and pulse pressure. Note the following:

• Bradycardia may begin within 1.5-2 seconds of the onset of apnea.
• Apneic episodes associated with bradycardia are characterized by decreases in heart rate of more than 30% below baseline rates.
• This reflex bradycardia is secondary to hypoxic stimulation of the carotid body chemoreceptor or a direct effect of hypoxia on the heart.
• Transient bradycardias also occur relatively often in very low birth weight infants who also have apnea of prematurity ⁴⁰⁾. These events are not associated with apnea, but they are presumed to be mediated by an increase in vagal tone.

Pulse oximetry may reveal clinically significant desaturation. However, pulse oximeters typically have a delay in recording the event.

Laboratory studies

A CBC (complete blood count) count and cultures of blood, urine, and spinal fluid are necessary if a serious bacterial or fungal infection is suspected in patients with apnea of prematurity. Obtain appropriate viral cultures or collection of body fluid for polymerase chain reaction (PCR) analyses if a viral pathogen is suspected.

A C-reactive protein level measured at 36-48 hours after birth may be useful for excluding infection.

Tests for ammonia, amino acid profiles in blood or urine, and organic acid levels in blood and urine are essential if a metabolic disorder is suspected. Testing of pyruvate and lactate concentrations in the blood and cerebrospinal fluid (CSF) may be diagnostically helpful when inborn errors of metabolism are among the differential diagnosis. The presence of ketones in the urine may indicate organic acidemia.

Serum electrolyte, calcium, magnesium, and glucose levels can be useful for diagnosing a recent stressful condition, a metabolic process, or chronic hypoventilation.

Analysis of the stool for different toxins related to botulism may reveal a cause in an infant with apnea, constipation, clinically significant hypotonia, difficulty swallowing or crying, or absent eye movements ⁴¹⁾.

Imaging studies

Chest radiography and/or a nuclear medicine milk scanning can be helpful if the child has persistent but unexplained lower airway symptoms (eg, wheezing and/or repetitive regurgitation after feeding, rumination) ⁴²⁾.

In cases of airway obstruction, stridor, or unexplained pathologic obstructive apnea, helpful upper airway evaluations include lateral neck radiography, head and neck 3-dimensional tomography, and otolaryngologic evaluation (eg, fiberoptic assessment of the larynx through the nose during spontaneous breathing) ⁴³⁾.

Imaging studies of intracranial pathology are necessary when hemorrhage is suspected or when findings include dysmorphic facial and somatic features, abnormal neurologic results, disordered hair whorls, and/or mental status changes.

A barium swallow study is useful if the infant has signs of swallowing dysfunction or anatomic anomalies (eg, an esophageal web, tracheoesophageal fistula).

A gastric-emptying study and abdominal sonography are useful in patients whose clinical picture includes a generalized gastrointestinal motility disorder or pyloric stenosis.

Other tests

Obtain a polysomnographic, or continuous multichannel, recording to measure the chest-wall movement, nasal and/or oral airflow (or change in air temperature), O2 saturation, and heart rate trend. A 2-channel pneumogram that is used to measure only chest-wall excursion and trends in heart rate provides insufficient information. The following results are diagnostic:

• Central apnea – Absence of nasal airflow and wall movement (this diagnostic finding on polysomnography recording may be used in lieu of pneumogram)
• Obstructive apnea – Lack of airflow despite chest-wall movement
• Mixed apnea – Combined results of central and obstructive apnea

If gastroesophageal reflux (GER) is suspected, note the intraesophageal pH as part of the multichannel recording.

Consider obtaining an electroencephalogram (EEG) in infants who have suspected apneic seizures or who have persistent pathologic central apnea without an identifiable cause.

Obtain an echocardiogram and consult a cardiologist if the patient’s history or physical findings (eg, feeding difficulties, heart murmur, cyanosis) suggest cardiac disease.

ECG results are useful in patients with severe unexplained tachycardia or bradycardia. Abnormalities in cardiac conduction (eg, prolonged-QT syndrome) are infrequent but important causes of apnea during infancy.

Evaluate patients for unilateral choanal stenosis and choanal atresia by passing a small-diameter feeding tube through both nares. Three-dimensional tomography is probably the method of choice for definitively diagnosing upper airway malformations.

Procedures

Procedures may include fiberoptic examination of the larynx through the nose during spontaneous breathing, direct laryngoscopy, and bronchoscopy which is usually performed with the patient under anesthesia.

Emergency or scheduled tracheostomy may be used to manage severe airway obstruction caused by a number of conditions. Tracheostomy might occur after the airway is stabilized by using endotracheal intubation. Jaw-distraction surgery has been used to avoid tracheostomy in neonatal conditions (eg, Robin sequence) that involve severe micrognathia as a component of malformation ⁴⁴⁾.

Apnea of prematurity treatment

Many premature babies will “outgrow” apnea of prematurity by the time they reach the date that would have been the 36th week of pregnancy. If treatment is needed, it may include:

• General care. This includes control of body temperature, proper body position, and extra oxygen.
• Nasal continuous positive airway pressure (CPAP). A steady flow of air is delivered through the nose into the airways and lungs. Nasal intermittent positive pressure ventilation may be added to CPAP.
• Medicines. Methylxanthine is used to stimulate breathing.

Your baby may also need blood transfusions, depending on the cause of apnea.

Medical therapy

The principal goals of treating apnea of prematurity are to address its cause and to provide appropriate medical management. For example, bacterial sepsis that causes apnea is treated with antibiotics and other supportive therapies, whereas seizures require anticonvulsants. The use of assisted ventilation to manage severe apnea, bradycardia, and oxygen (O2) desaturation can be life saving, and assisted ventilation and oxygen (O2) may be required to prevent injury to the central nervous system (CNS). The primary disease process must be identified and treated.

When all causes of apnea other than prematurity are excluded during the diagnostic work-up, apnea of prematurity is the presumptive etiology. Caregivers must decide which intervention is appropriate given the severity of the patient’s apnea, bradycardia, and oxygen desaturation. For example, an infant who has an inadequate response to tactile stimulation and oxygen administration and who requires airway suctioning and bag-mask ventilation to recover suggests a serious problem.

A useful strategy is to have a protocol that defines escalating treatments for apnea of prematurity. Depending on the frequency and the severity of apnea, bradycardia, and oxygen desaturation, common treatments include stimulation (usually tactile), methylxanthine, or assisted ventilation (eg, nasal continuous positive airway pressure [CPAP], mechanical ventilation) ⁴⁵⁾.

Pantalitschka et al ⁴⁶⁾ compared 4 modes of nasal respiratory support for apnea of prematurity in very low birthweight infants: intermittent positive pressure ventilation (IPPV) via a conventional ventilator or a variable flow device and CPAP via a variable flow device or a constant flow underwater bubble system. In their randomized controlled trial with a crossover design, episodes of bradycardia or desaturation occurred at a rate of 6.7 per hour with the conventional ventilator in IPPV mode and at a rate of 2.8 and 4.4 per hour with the variable flow device in CPAP and IPPV mode, respectively (P < 0.03 for both compared with IPPV/conventional ventilator). Pantalitschka et al concluded that a variable flow nasal CPAP may be more effective than a conventional ventilator in nasal IPPV mode for treating apnea of prematurity.

Prone position

Prone positioning can improve thoracoabdominal synchrony and stabilize the chest wall without affecting breathing pattern or SpO2 ⁴⁷⁾. Several studies have demonstrated that prone position reduces apnea of prematurity ⁴⁸⁾. Extension of the neck 15 degrees from the prone position is referred to as the head elevated tilt position, which has been found to decrease episodes of oxygen desaturation by 48.5% ⁴⁹⁾. A more comfortable three-stair-position that maintains the head and abdomen in a horizontal position was reported to improve apnea, bradycardia, and desaturation ⁵⁰⁾. However, head elevated tilt position has not been shown to work in combination with pharmacologic therapy. Recently, two randomized controlled trials investigated the effect of three different postural interventions on the incidence of bradycardia and desaturation. The researchers found that the effect of head elevated tilt position and three-stair-position interventions following aminophylline treatment was similar to standard prone positioning and only decreased the rate of desaturation by 12% ⁵¹⁾. Thus, in infants receiving other effective treatment, neither head elevated tilt position nor three-stair-position resulted in a further improvement in apnea of prematurity. Since head elevated tilt position and three-stair-position are easy to provide, it should be considered as a first-line intervention in infants with apnea of prematurity.

Stimulation

Tactile stimulation is usually sufficient to terminate an isolated apneic event caused by central apnea. Stimulation akin to that used during neonatal resuscitation (eg, a gentle tap to the sole of the foot or rubbing the back) is often enough to terminate a central apnea. However, other measures may be required to treat an obstructive event or an episode of airway obstruction followed by central apnea.

If the upper airway is obstructed, repositioning the patient’s head and neck or gently elevating the infant’s jaw may alleviate the occlusion.

Use of a high-flow nasal cannula may open the airway enough to reduce obstructive apnea. As an alternative, high-flow oxygenation through a nasal cannula may be an agonist for receptors in the airway. Nasal irritation due to the cannula may prevent central apnea by causing arousal. Additional research is needed to ascertain the usefulness of high-flow nasal cannulas for treating apnea of prematurity.

Administration of oxygen

Supplemental oxygenation or bag-mask ventilation is indicated in infants with signs of bradycardia or desaturation.

Medical treatment is indicated when apneic episodes number 6-10 or more per day; when the infant does not respond to tactile stimulation; or when an event requires O2 and/or bag-mask ventilation to terminate apnea, bradycardia, and/or desaturation.

Avoid hyperoxia, which may increase the risk of retinopathy of prematurity (ROP).

Administration of carbon dioxide

Carbon dioxide is known to be the natural stimulator of breathing, and a study has shown that if the baseline PCO2 is increased in a premature infant, facilitated by providing a low concentration of inhaled carbon dioxide, this abolishes the apneic events in the premature infants; however, it is not as effective as theophylline and is not practical to deliver constant concentration of carbon dioxide, and, therefore, it should not be done ⁵²⁾.

Use of CPAP

CPAP has been used to treat apnea in preterm neonates, and it is indicated when the infant continues to have apneic episodes despite achieving a therapeutic serum level of methylxanthine.

CPAP at 3–6 cm H2O (water pressure) has proven a safe and effective therapy for apnea of prematurity over the past 35 years. CPAP delivers a continuous distending pressure via the infant’s pharynx to the airways to prevent both pharyngeal collapse and alveolar atelectasis. Therefore, CPAP can enhance functional residual capacity and reduce the work of breathing, improving oxygenation and decreasing bradycardia ⁵³⁾. CPAP works effectively to reduce the incidence of obstruction, but it has no clear efficacy in central apnea of prematurity ⁵⁴⁾.

CPAP is delivered with nasal prongs, a nasal mask, or a face mask with 3-6 cm of water pressure.

An extension of CPAP is the administration of nasal intermittent positive pressure ventilation (NIPPV). Systematic meta-analysis has shown it to be effective in preventing extubation failure and for the treatment of apnea of prematurity ⁵⁵⁾. A randomized crossover trial ⁵⁶⁾ found that variable-flow nasal continuous positive airway pressure (NCPAP) is more effective in treating apnea of prematurity than a conventional ventilator using NIPPV mode. In a word, reduced work of breathing may be the key to improving apnea of prematurity, which can be achieved via either synchronized NIPPV ⁵⁷⁾ or variable-flow NCPAP devices ⁵⁸⁾.

CPAP effectively treats mixed and obstructive apnea, but it has little or no effect on central apnea. This limitation suggests that CPAP may reduce the frequency of apnea by means of several mechanisms, including stabilization of the partial pressure of O2 (PaO2) by increasing the functional residual capacity (FRC), by altering the influence of stretch receptors on respiratory timing, or by splinting the upper airway in an open position.

Discharge considerations

Apnea-free interval before discharge

Most neonatologists agree that babies should be apnea-free for 2-10 days before discharge. However, the interval between the last apneic event and a safe time for discharge is not clearly established. The minimum apnea-free period is debated among clinicians. Darnall et al concluded that otherwise healthy preterm neonates continue to have periods of apnea separated by as many as 8 days before the last episode of apnea before discharge ⁵⁹⁾. Infants with long intervals between apneic event often have risk factors other than apnea of prematurity.

Home monitoring

Home monitoring after discharge is necessary for infants whose apneic episodes continue despite the administration of methylxanthine. Infants undergoing methylxanthine therapy rarely are sent home without a monitor because apnea may recur after they outgrow their therapeutic level. Without a monitor, caregivers may not know when apnea reappears.

Some families cannot manage monitoring in the home. In these cases, the administration of caffeine may be the only possible therapy. Infants in this situation need frequent follow-up visits, and they should be readmitted for further evaluation when their blood levels approach the subtherapeutic range.

Various agencies and organizations have stated that home monitoring cannot prevent sudden infant death syndrome (SIDS), also called crib death or cot death, in preterm infants who have apnea of prematurity during their hospitalization ⁶⁰⁾. There is no data to suggest that home monitoring can prevent SIDS in preterm infants with the diagnosis of apnea of prematurity ⁶¹⁾.

Indications for home monitoring

Home monitoring may be indicated in the situations described below.

• Historical evidence suggests the occurrence of clinically significant apnea or an apparent life-threatening event (ALTE).
• Recording monitoring or multichannel evaluation documents apnea.
• The patient has gastroesophageal reflux (GER) with apnea.
• A sibling or twin of the patient died from SIDS or another postneonatal cause of death

The National Institutes of Health consensus conference recommends monitoring for the siblings of infants with SIDS, but only after 2 SIDS-related deaths occur in a family. Physicians often begin monitoring after one sibling dies from SIDS; this practice may be related to a fear of litigation should another child in the family die from SIDS. Siblings of patients who died from SIDS are routinely monitored until one month past the patient’s age at death.

Monitoring is not indicated to prevent SIDS in infants older than one year, though proponents believe that such monitoring reduces anxiety in the parents of high-risk infants. Opponents of monitoring cite a lack of evidence to show that monitoring reduces the rate of SIDS. They argue that monitors intrude on the family’s life and that they are poorly tolerated by the family ⁶²⁾.

Types of monitors

Several types of cardiorespiratory monitors are available for home use in the United States. The most common type combines impedance pneumography with an assessment of the patient’s mean heart rate. The most notable drawback of impedance monitors is their inability to detect obstructive apnea. Newer monitors can minimize false alarms caused by motion artifact.

Standard home monitors detect respiratory signals and heart rates. Electrodes are placed directly on the infant’s chest or inside an adjustable belt secured around his or her chest.

Monitoring units should be capable of recording cardiac and respiratory data because this information can help the physician in evaluating the need to stop medication or monitoring. These devices also record compliance with monitor use. The event recorder contains a computer chip that continuously records respiratory and cardiac signals. Normal signals are erased, but any event that deviates from preset parameters activates the monitor to save records of that event, as well as data 15-75 before and 15-75 seconds it. Additional channels are available to record pulse oximetry readings, nasal airflow, and body position (eg, prone vs supine). The records are downloaded within 24 hours after a parent reports an event or after excessive alarms occur.

Many units now have computer modems that instantly transmit data to the physician’s office for evaluation. These easily installed devices are especially useful for families who have had problems with events or alarms.

Some devices, such as pulse oximeters, piezo belts, and pressure capsules, have been impractical to use or have had limited applications. Newer technologies and software programs may soon make such oximeters and similar devices more practical than they once were.

All monitoring devices are associated with false alarms, which are alerts without in the absent of a true cardiorespiratory event. False alarms worry parents. If they happen often, they may discourage use of the monitor. Excessive false alarms can usually be minimized by adjusting the placement of the electrodes and by educating the parents.

Details of monitoring depend on the frequency of events observed during neonatal hospitalization, the size and stability of the infant at the time of discharge, and the degree of parental anxiety.

Follow-up of home monitoring and patient education

Careful follow-up is needed with all cases of home monitoring in prematurely born neonates. Physicians who have limited experience with home monitoring or who cannot interpret the downloaded recordings should seek assistance from a center or program with expertise in these areas.

The most important issue with monitoring is that Neonatal Resuscitation Program instructors should educate parents, guardians, and other caregivers about neonatal resuscitation by using a mannequin before their child is discharged from the NICU.

Parents should also be educated about prenatal and postnatal factors associated with an increased risk of SIDS, namely, the following ⁶³⁾:

• Prenatal and postnatal tobacco use
• Opiate abuse during pregnancy
• Baby’s prone sleeping position
• Pacifier use
• Use of soft bedding
• Shared sleeping with children and adults
• Illnesses in infants with bronchopulmonary dysplasia
• Genetic factors

Parents must also be aware that postural skull deformities have occurred after the American Academy of Pediatrics offered positioning recommendations in its Back to Sleep campaign ⁶⁴⁾. Prematurely born infants are probably at increased risk. Ways to avoid or minimize skull deformities should be discussed with parents.

Parents of infants with home monitors must have a clearly designated person who they can contact on a regular basis and during emergencies. Many programs or centers provide 24-hour assistance for families of children with home monitors.

The mean duration of home monitoring for prematurely born neonates is often more than 6 weeks. Extended monitoring is reserved for infants whose recordings show notable cardiorespiratory abnormalities. Monitoring beyond age 1 year is uncommon. Most often, children who require such monitoring have other conditions that require the use of additional technology. An example is an infant with bronchopulmonary dysplasia who requires mechanical ventilation at home.

For infants who require therapy with a methylxanthine, drug therapy is typically stopped after 8 weeks without true events, but monitoring is continued for an additional 4 weeks ⁶⁵⁾. If no events are noted in this period, monitoring can be discontinued. These recommendations regarding discontinuing methylxanthines or home monitoring are not based on data from controlled studies; these investigations are badly needed.

Immunization

Premature infants often have apnea and bradycardia events following the first series of immunizations, and neonatologists caring for premature infants prefer to give immunization while the child remains in the NICU, if the infant is near discharge. These events are less likely to recur during subsequent immunizations; however, prospective studies are required in this regard ⁶⁶⁾.

Medications

Methylxanthines

Methylxanthines may help reduce the incidence of events in a neonate with central apnea, though apnea in 15-20% of infants does not respond to methylxanthines.

Home monitoring after discharge is always necessary for infants whose apneic episodes continue despite the administration of methylxanthine. Infants undergoing methylxanthine therapy should rarely be sent home without a monitor because apnea may recur when they outgrow their therapeutic level.

Some families cannot manage monitoring in the home. In these cases, caffeine may be the only possible therapy.

Questions have been raised regarding short- and long-term adverse effects in preterm infants ⁶⁷⁾. The relationship of methylxanthine therapy to neurodevelopmental outcomes over time is especially of concern. For this reason, a clinical trial related to the safety of caffeine in preterm infants with apnea of prematurity is in progress ⁶⁸⁾.

Caffeine

Caffeine is the preferred drug for treating apnea of prematurity ⁶⁹⁾. Caffeine is also the most acceptable prophylactic agent to facilitate successful extubation in preterm infants ⁷⁰⁾. Caffeine therapy may reduce the rate of bronchopulmonary dysplasia in very low-birth-weight infants ⁷¹⁾.

In addition, caffeine has a therapeutic margin wider than that of other methylxanthines, such as theophylline. Therefore, an overdose is less likely to occur with caffeine than with other drugs in its class.

Caffeine has been proposed as an adjunct treatment for successful extubation from the ventilator during first week of life of a very low birth weight premature neonate and the authors support this practice based on their own experience and evidence from the current literature ⁷²⁾. They also suggest starting caffeine early in the high-risk premature neonate, since caffeine has been associated with better long-term outcome ⁷³⁾. At this time they do not suggest starting caffeine prophylaxis in a preterm neonate only based on prematurity, and current literature review also supports this ⁷⁴⁾.

The results from one study suggest that while neonatal caffeine therapy for apnea of prematurity reduces the rates of cerebral palsy and cognitive delay at age 18 months, the improvement was no longer realized at age 5 years ⁷⁵⁾.

The benefits of caffeine therapy during the NICU stay are not controversial for many reasons, although long-term benefits of caffeine have been questioned. Caffeine has been linked with improved rates of survival without neurodevelopmental disability on 18- to 21-month follow-up. However, recently published data suggest that this benefit is no longer associated with a significantly improved rate of survival without disability in children who were of very low birth weight and assessed at age 5 years. That being said, caffeine remains the preferred drug of choice to treat the apnea of prematurity ⁷⁶⁾.

Aminophylline

Aminophylline is the alternative methylxanthine. Aminophylline may be preferred when the physician wants to enhance contractility in the thoracic musculature or if the infant might benefit from the bronchodilator properties of aminophylline ⁷⁷⁾. This latter effect may be desired in infants with bronchopulmonary dysplasia.

One concern is that aminophylline may decrease cerebral blood flow ⁷⁸⁾.

Early reports in the literature also indicate a concern about the role that aminophylline may play in the occurrence or severity of necrotizing enterocolitis ⁷⁹⁾.

Doxapram

Doxapram is excluded as a therapy for apnea of prematurity because it is associated with reduced cerebral blood flow ⁸⁰⁾. Use of doxapram was not strongly recommended in a Cochrane Review ⁸¹⁾. Doxapram should be reserved for infants in whom appropriate methylxanthine therapy and continuous positive airway pressure (CPAP) fail to control severe apneic events. If the caregiver wishes to use this agent, they should consult other resources regarding its administration.

Apnea of prematurity long term effects

Butcher-Puech and coworkers ⁸²⁾ found that infants in whom obstructive apnea exceeded 20 seconds had an increased incidence of intraventricular hemorrhage, hydrocephalus, prolonged mechanical ventilation, and abnormal neurologic development after their first year of life.

In 1985, Perlman and Volpe ⁸³⁾ described a decrease in the cerebral blood flow velocity that accompanies severe bradycardia (heart rate < 80 bpm). Infants with clinically significant apnea of prematurity do not perform as well as prematurely born infants without recurrent apneas during neurodevelopmental follow-up testing ⁸⁴⁾.