Conditions We Treat

Due to the constant state of muscle stiffness, the movements of children with spastic CP can be awkward.

Spastic CP cases are usually described by which parts of the body are affected:

• Spastic diplegia ― This term refers to muscle stiffness over symmetrical parts of the body, most often in both legs (diplegia means the paralysis of two parts). A child’s arms are usually less affected or completely unaffected. Kids with spastic diplegia might have difficulty walking, as their hip and leg muscles are so tight their legs pull together, turn inward and cross at the knees (this is also known as “scissoring”). If the stiffness is less severe or is better described as weakness, it’s called “diparesis” (two-part weakness).
  
  There are three levels of severity of spastic diplegia. “Mild diplegia” means a child can usually walk but might walk a little differently, and can usually play and run to a limited extent. “Moderate diplegia” means the child can walk, but with a slight bend in the knees. These children usually can’t run and have to use handrails to go up and down steps. “Severe diplegia” means a child usually need crutches, a walker or a wheelchair to get around.
  
  
• Spastic hemiplegia ― This type of CP affects only one side of a child’s body, and usually the arm is more affected than the leg (hemiplegia means the paralysis of one side of the body). Kids with hemiplegia have limited use of the limbs on one side and normal use of their limbs on the other side. If the stiffness is less severe it may be called “hemiparesis” (one-sided weakness).
  
  
• Spastic quadriplegia ― Spastic quadriplegia (the paralysis of four parts) is the most severe form of spastic CP and affects all four of child’s limbs, trunk and face. Kids with spastic quadriplegia usually can’t walk and may have other developmental disabilities, such as intellectual disability, seizures and vision, hearing or speech problems. If the condition is described more as weakness instead of paralysis, it may be called “quadriparesis” (four-part weakness).

Compared to other types of CP, children with spastic CP usually find it a bit easier to manage. The spasticity can, however, lead to contractures or short muscles and cause joint dislocation leading to arthritis — often as early as a person’s mid-20s. Occupational therapy and physical therapy methods that include assisted stretching and strengthening, as well as targeted physical activity and exercise are usually the main methods to manage spastic CP. Aquatic therapy also can help in many cases.

If the spasticity is severe, we may recommend medications such as antispasmodics (medicines to prevent spasms), Botox (a protein that helps to relax the muscles) and baclofen (a medicine that relaxes the muscles). These may be administered orally or through a pump implanted under the skin. Oral doses go through the digestive system, and not all of the medicine makes it to the spinal fluid where it’s needed. The pumps are designed to deliver the medication directly to the spinal fluid, so much lower doses can be used.

Early Treatment Is Key

Early treatment is important to prevent hip dislocation and arthritis. As your child grows, we’ll carefully monitor his or her hips, especially under the age of 10, when hips typically dislocate. Most often, we’ll perform X-rays of your child’s hips once a year to help stay ahead of any dislocation.

Some children develop knee or feet problems that can make walking difficult. In this case, we may recommend correction so your child can continue to walk. We may also recommend surgical lengthening of your child’s muscles, most often in middle childhood (6-9 years old). As your child gets older, particularly past the age of 10, we’ll pay special attention to your child’s spine, as many children develop scoliosis and need proper wheelchair seating, spinal orthotics or even surgery. This is more commonly required in children who have no ability to walk. We’ll continue to carefully monitor everything until your child is done growing.

Depending upon your child’s needs, other treatments may include:

• speech therapy
• braces and orthotic devices
• rolling walkers
• augmentative communication (communication methods used to help or replace speech or writing) aids such as computers with attached voice synthesizers

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Children with this type of CP may have problems controlling the movements of their hands, arms, feet and legs. In some children the arms are more affected than the legs, so they may be able to walk but have difficulty using their arms, although athetoid CP usually affects the whole body. This makes it difficult for children to walk, sit or even to hold themselves in an upright, steady position. Movements can be slow and writhing, or rapid and jerky. Sometimes the condition also affects the face and tongue, making it difficult for a child to swallow, suck, eat and talk.

It may take a lot of concentration and hard work for kids with this type of CP to get their hands to a certain spot, such as reaching for a glass or touching their nose. They may not be able to hold onto objects, especially small ones that require fine motor control, such as toothbrushes, pencils, etc.

At the Cerebral Palsy Center, we may recommend treatment that includes physical, occupational, speech and aquatic therapy. Medications may be used to control seizures, alleviate pain and relax muscle spasms.

Depending upon your child’s needs, other treatments may include:

• surgery to release tight muscles (although the need for surgery for short muscles is less than with spasticity)
• braces and orthotic devices
• rolling walkers
• augmentative communication (communication methods used to help or replace speech or writing) aids such as computers with attached voice synthesizers
• the intrathecal baclofen (a medicine that relaxes the muscles) pump can provide excellent control of muscle movements

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Kids with ataxic CP have problems with balance and coordination. Children with ataxic CP might have problems reaching for things. Some may have hypotonia (floppy, low muscle tone) and tremors (twitching). Often, vision and auditory problems are present.

Ataxic CP cases usually involve the whole body. However, in rare cases ataxic CP may affect one area of the body more than the other.

At the Cerebral Palsy Center, treatment of children with ataxic CP may include physical, occupational, speech and aquatic therapy. Our cerebral palsy experts may use medications to control seizures, alleviate pain and relax muscle spasms.

Depending upon your child’s needs, other treatments may include:

• braces and orthotic devices
• rolling walkers
• augmentative communication (communication methods used to help or replace speech or writing) aids such as computers with attached voice synthesizers
• the intrathecal baclofen (a medicine that relaxes the muscles) pump can provide excellent control of muscle movements

Learn More About Our Treatment »

Kids with mixed forms of CP may exhibit some or all of the symptoms associated with each type of CP. Mixed CP is the most difficult to treat because its symptoms and development are diverse and sometimes unpredictable.

At the Cerebral Palsy Center, we may recommend treatment that includes physical, occupational, speech and aquatic therapy. Medications may be used to control seizures, alleviate pain and relax muscle spasms.

Depending upon your child’s needs, other treatments may include:

• surgery to release tight muscles
• braces and orthotic devices
• rolling walkers
• augmentative communication (communication methods used to help or replace speech or writing) aids such as computers with attached voice synthesizers

What Is Anoxic Encephalopathy?

Children or teenagers whose brains are deprived of oxygen for a prolonged period of time may develop some permanent damage to their brain tissue. This damage is classified as cerebral palsy if it occurs in a child under 2 years old. Older children and teenagers may end up with slightly different symptoms due to this damage, but the symptoms will be similar.

Characteristics of Anoxic Encephalopathy

The wide range of effects is similar to cerebral palsy, including spasms, low muscle tone and decreased abilities to control movement. Children with anoxic encephalopathy may make a full or near-full recovery. Alternately, they might have very severe long-term disabilities, similar to children with quadriplegic CP (paralysis of all four of child’s limbs and the inability to walk).

Causes of Anoxic Encephalopathy

There are many causes of anoxic encephalopathy. One of the more common causes is an “apparent life-threatening episode” (or “ALTE,” often called “near-miss sudden infant death syndrome (SIDS)” or “near-SIDS” (when a baby almost dies due to SIDS). Other incidents that prevent a child from getting oxygen for a long period of time include cardiac arrest, near-drowning, near-hanging and severe smoke inhalation.

How We Diagnose Anoxic Encephalopathy

We can diagnose this condition by observing your child and learning your child’s history, including any incidents of oxygen deprivation.

How We Treat Anoxic Encephalopathy

Our treatment follows the same pattern as for children with CP, although we expect the child to continue to rebound from the low-oxygen incident and improve for two to three years. Our recommended therapies usually focus on making new gains (when, in children with CP, new gains wouldn’t be expected). This is especially true for children 8 to 10 years of age and up. We also try to prevent hip dislocation and severe foot malformations.

What Is Cytomegalovirus Infection?

Congenital cytomegalovirus infection (or “CMV”) is a congenital (present at birth) infection caused by a virus. This virus is related to the viruses that cause herpes simplex, chickenpox and shingles. Seizures and developmental delay are the main symptoms that this infection has in common with cerebral palsy.

Characteristics of Cytomegalovirus Infection

Most infected children don’t show any symptoms at all. Only about 1 in 10 infants infected with CMV has symptoms, which may include:

• inflammation of the retina
  
• jaundice
  
• large spleen and liver
  
• low birth weight
  
• mineral deposits in the brain
  
• rash at birth (called “petechiae”)
  
• seizures
  
• small head size (called “microcephaly”)
  

Children’s psychomotor abilities also may be affected. Deafness is also a potential complication.

Causes of Cytomegalovirus Infection

CMV occurs when infected mothers pass it to their fetuses through the placenta. The mothers may never have had symptoms and are, therefore, unaware that they carry the virus.

How We Diagnose Kids With Cytomegalovirus Infection

Our experts may diagnose the presence of a CMV infection during an examination in our center and from hearing about your child’s symptoms. During the exam, our physician may look for:

• abnormal breath sounds, which can indicate pneumonia (a common occurrence among children with CMV infections)
  
• enlarged liver or spleen
  
• psychomotor deficiencies (decreased abilities to control movement, caused by poor communication between the brain and the muscles)
  

If the doctor suspects a CMV infection, your child may need to get a number of medical imaging and blood tests including:

• antibody titer (blood test) for CMV, collected from both the mother and infant
• bilirubin (a yellow blood component that can cause a yellow, jaundiced look) level and other blood tests to check liver function
• complete blood count (or “CBC”) blood test
• computed axial tomography (“CAT” or “CT”) scan, a noninvasive medical imaging test of the head
• ultrasound of the head (another noninvasive medical imaging test)
• fundoscopy, an eye test that allows an eye specialist to see inside the eye and examine the retina
• TORCH screen, a group of blood tests that check for several different infections (toxoplasmosis, rubella, cytomegalovirus, herpes simplex, HIV and other common infections)
• urine culture for CMV virus in the first two to three weeks after birth
• chest X-ray

How We Treat Kids With Cytomegalovirus Infection

There’s no cure or specific treatment for congenital CMV. Treatments depend on your child’s specific problems, and often include various therapies to help with motor difficulties. Your child’s hearing will need to be checked regularly. If your child has seizures, we may recommend medication. Some children with a CMV infection have problems walking and may need orthopedic treatment for foot or hip problems and/or scoliosis (a curving of the spine).

What Is Congenital Dystonia?

Congenital dystonia is a genetic or inherited condition that causes abnormal movement in the arms and legs. This twisting, repetitive movement or posture (or “dystonia”) is caused by frequent or constant muscle contractions. Usually it’s seen in all four limbs, but some children only have abnormality on one side or with just one limb. The severity varies greatly. Some children have minimal noticeable problems, whereas some are severely disabled and confined to wheelchairs.

Characteristics of Congenital Dystonia

Congenital dystonia always involves a lack of control over the body’s motor movements. Sometimes children may perform large movements, such as swinging their arms or legs. Others may twist when attempting an activity. The condition often progresses during the growth period in adolescence. However, in some it progresses in childhood and then becomes stable, or begins in childhood and slowly progresses.

Causes of Congenital Dystonia

The cause of congenital dystonia is an inherited or genetic defect. There are currently approximately 20 identified genetic causes, some of which are very specific defects that respond to medications. Knowing the specific cause can help us to provide a prognosis (a prediction of the future course of the condition).

How We Diagnose Congenital Dystonia

It can be easy to make a diagnosis of congenital dystonia if other family members are known to have it. But most cases occur spontaneously and require complicated medical testing to diagnose, including spinal taps, brain scans and other specialized tests. It’s important to try to make a specific diagnosis because this can help determine the correct treatment.

How We Treat Congenital Dystonia

The treatment for congenital dystonia is best determined by the specific cause and movement problems. Some types of congenital dystonia respond to medications so well that the abnormal movements are nearly completely controlled. In some, the implantation of a deep brain stimulator (a device that sends electrical impulses to specific parts of the brain to help control movement) may almost completely correct the problem. In rare cases, children who were not able to sit by themselves have gained the ability to walk again with the correct treatment. Most patients get some improvement with medication, deep brain stimulator treatment and physical therapy. Some need orthopedic treatment for foot deformities or scoliosis (a curving of the spine).

What Is Cri du Chat Syndrome?

Cri du chat syndrome is a genetic disorder that gets its name from the French for “cry of the cat,” after the distinctive noise people with the condition make due to their malformed larynxes (or voice boxes). The sounds they make are similar to that of a meowing kitten. It’s also called “Lejeune’s syndrome” (after French pediatrician and geneticist Jérôme Lejeune).

Characteristics of Cri du Chat Syndrome

Frequent symptoms of cri du chat syndrome include:

• low muscle tone (this is called “hypotonia”)
  
• small head (called “microcephaly”)
  
• delayed growth
  
• difficulties communicating
  

Other symptoms may include:

• feeding problems because of difficulty swallowing and sucking
  
• low birth weight and poor growth
  
• severe cognitive (thinking), speech and motor (movement) problems
  behavioral problems (such as hyperactivity, aggression, tantrums and repetitive movements)
  
• excessive drooling
  
• dislocated hips
  
• scoliosis (a curving of the spine)
  
• problems with walking
  
• malformations of the heart
  

Causes of Cri du Chat Syndrome

Cri du chat syndrome is a genetic disorder called a “monosomy.” With cri du chat syndrome, a baby has only one complete chromosome (we usually have a pair of chromosomes). Specifically, cri du chat occurs when a part of one chromosome is missing (this is called a “partial monosomy”).

How We Diagnose Cri du Chat Syndrome

Our physicians diagnose cri du chat syndrome through clinical observation. And genetic testing may confirm the diagnosis.

How We Treat Kids With Cri du Chat Syndrome

Children may need to see our speech, physical and occupational therapists. Behavioral health specialists may be called in to consult. Children with heart abnormalities often need corrective surgery, and those with hip, foot or spine problems may need orthopedic surgery for corrections. Your child’s doctor can go over your child’s specific therapy and treatment needs in detail.

What Is Edwards Syndrome?

Edwards syndrome is a genetic disorder caused by the presence of all or part of a third copy of a particular chromosome, instead of the normal two (one from each parent). The condition is named for John Hilton Edwards, a British medical geneticist, who first described the syndrome in 1960. Edwards syndrome occurs in around 1 in 6,000 live births and around 80 percent of those affected are female. The majority of fetuses with Edwards syndrome die before birth, and only 5 percent of infants born with the syndrome live longer than 1 year, due to heart abnormalities, kidney malformations and other internal organ disorders.

Characteristics of Edwards Syndrome

Symptoms of Edwards syndrome frequently include:

• low birth weight
  
• small head, mouth and jaw
  
• hands with clenched fists and overlapped fingers
  
• malformations of the hips and feet
  
• heart and kidney problems
  
• intellectual disability
  
• intestines protruding outside the body (called “omphalocele”)
  
• developmental delays
  
• growth deficiency
  
• feeding difficulties
  
• breathing difficulties
  
• clubfoot (a birth defect that causes one or both of a baby's feet to turn inward and downward, giving the foot or feet a club-like appearance)
  
• a wide range of problems walking (mainly involving the feet, knees and hips) that are addressed based on how much they impact a child’s function
• arthrogryposis (a broad group of disorders that result in stiffness or loss of motion of multiple joints)
  

Causes of Edwards Syndrome

Edwards syndrome is a genetic disorder called a “trisomy.” With Edwards syndrome, a baby has three instances of a particular chromosome, instead of the normal two. In Edwards syndrome, there are three copies of chromosome 18 (that’s why the disorder is sometimes called “trisomy 18”).The incidence of Edwards syndrome increases as the mother’s age before pregnancy increases.

How We Diagnose Edwards Syndrome

Edwards syndrome can be identified during pregnancy by prenatal screening (blood tests or ultrasound). After birth, our physicians can diagnose Edwards syndrome by directly observing your child. Genetic testing can be used to confirm the diagnosis.

How We Treat Kids With Edwards Syndrome

Treatment depends upon the specific health problems involved, and often involves a number of medical specialists.

What Is Familial Spastic Paraplegia?

Familial spastic paraplegia (also called “hereditary spastic paraplegia”) is an inherited condition in which children have spasticity (severe muscle stiffness) that’s very similar to the spastic diplegia (paralysis in two parts of the body, usually both legs) form of cerebral palsy (CP). Some children may even have symptoms similar to spastic quadriplegia (paralysis in four parts). Although a parent may have the condition, not every child necessarily inherits it. When they do, the symptoms are usually similar to those of the parent. Most often, children have increased problems walking during the growth period. The progression of the decrease in function usually levels off in the teen years and remains stable into later adulthood. There are forms, though, which continue to get progressively worse.

Characteristics of Familial Spastic Paraplegia

Often, children with familial spastic paraplegia seem relatively normal as babies, then parents notice problems with walking. Although there may be minor differences, it’s not possible to tell the difference between CP and familial spastic paraplegia, as all of the typical problems found in kids with CP also occur in those with familial spastic paraplegia.

Causes of Familial Spastic Paraplegia

Familial spastic paraplegia is an inherited genetic disorder — or, rather, a group of conditions that look similar but have different genetic causes. A number of specific causes have been defined, but not all are yet known.

How We Diagnose Familial Spastic Paraplegia

The most important information to be able to diagnose this disorder is the family history. Genetic testing can be done if there’s a sense that it might be familial spastic paraplegia. However, because many forms of familial spastic paraplegia still have undefined genetic defects, not every genetic test returns definite results.

How We Treat Familial Spastic Paraplegia

The treatment for children with familial spastic paraplegia is much the same as for kids with CP. The spasticity can be managed with exercise, oral medication and baclofen pumps (baclofen is a medicine that relaxes the muscles). Problems related to walking (including feet, hip and spine problems) are treated with the same techniques as in CP, including therapy and orthopedic treatment.

What Is Glutaric Aciduria?

This is a metabolic disorder (a condition involving the complex chemical reactions our bodies use to maintain life and energy production) in which a child’s body is unable to completely break down certain amino acids (the compounds that make up proteins — the building blocks of our body’s cells, muscles and other tissues). This disorder causes molecules to accumulate that can damage the brain and other organs, especially the part of the brain that helps regulate movement (called the “basal ganglia”). Also, neurotransmitters (chemicals that allow messages to be transmitted along nerve cells) that are needed for motor ability may not be produced.

Characteristics of Glutaric Aciduria

Some children with glutaric aciduria are only mildly affected, whereas others have severe problems. Kids with the condition may have:

• difficulty moving
  
• spasms or jerking movements
  
• rigidity
  
• decreased muscle tone or weakness
  
• problems or inability walking
  
• scoliosis (a curving of the spine)
  

Causes of Glutaric Aciduria

Glutaric aciduria is an inherited disorder, which means it’s caused by a mutation (change) that happens in a child’s genes. It occurs in approximately 1 of every 30,000 to 40,000 births, and is more common in closed populations, such as the Amish community and some Native American tribes where up to 1 in 300 newborns may be affected.

How We Diagnose Glutaric Aciduria

One of our physicians may diagnose the condition during an examination in our center. We may order blood tests to help confirm the diagnosis.

How We Treat Kids With Glutaric Aciduria

There’s no cure for glutaric aciduria. One of our nutrition specialists may help ensure that your baby is getting adequate amino acids. Our physical and occupational therapists can help your child maintain motor (movement) abilities and postural muscle tone while seating. We may recommend medication to control muscle spasms. In severe cases, we may implant a baclofen (medicine that relaxes the muscles) pump to help control the abnormal movements and spasticity.

What Is Patau Syndrome?

Patau syndrome is a genetic disorder caused by the presence of all or part of a third copy of a particular chromosome, instead of the normal two (one from each parent). The extra genetic material disrupts the normal course of development, causing multiple and complex organ defects. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births. The condition was named for Klaus Patau, a German-born American geneticist, who identified the chromosomal nature of the disease in 1960.

Characteristics of Patau Syndrome

Many infants have difficulty surviving the first few days or weeks after birth, due to severe neurological and cardiac defects, and problems with other organs. Of those that do survive, common symptoms may include:

• intellectual and motor (movement) disabilities
  
• small head (called “microcephaly”)
  
• a type of spina bifida called “meningomyelocele”
  
• extra fingers (called “polydactyly”)
  
• deformed feet (with rounded bottoms and protruding heel, known as “rocker-bottom feet”)
  
• intestines protruding outside the body (called “omphalocele”)
  
• overlapping fingers
  
• cleft lip (a gap in the lip) and cleft palate (an opening in the roof of the mouth)
  
• scoliosis (a curving of the spine)
  
• hip dislocations
  
• gait (walking) problems
  

Causes of Patau Syndrome

Patau syndrome is a genetic disorder called a “trisomy.” With Patau syndrome, a baby has three instances of a particular chromosome, instead of the normal two. In Patau syndrome, there are three copies of chromosome 13 (that’s why the disorder is sometimes called “trisomy 13”). The risk of this syndrome in children increases with the mother’s age at pregnancy. It’s not said to be inherited, as it seems to be caused by random events during the formation of cells or an error in cell division during development.

How We Diagnose Patau Syndrome

Patau syndrome can be identified during pregnancy by prenatal screening (blood tests or ultrasound). After birth, our physicians can diagnose Patau syndrome through direct observation. We may use genetic testing to confirm the diagnosis.

How We Treat Kids With Patau Syndrome

Treatment depends upon your child’s specific health problems, and often involves a number of medical specialists. Children with heart defects or cleft lip and cleft palate may need surgery. Physical, occupational and speech therapy can help children with Patau syndrome reach their full developmental potential. Those with hip, foot or spine problems may need orthopedic surgery for corrections.

What Is Phenylketonuria?

Phenylketonuria (also called “PKU”) is a disorder in which babies are missing an enzyme called “phenylalanine hydroxylase,” which is needed to break down an essential amino acid called “phenylalanine.” This amino acid is found in foods that contain protein. Without the enzyme, levels of phenylalanine and other substances build up, causing damage to the central nervous system and brain.

Characteristics of Phenylketonuria

Symptoms of PKU may include:

• delayed mental and social skills
  
• small head size (called “microcephaly”)
  
• hyperactivity
  
• jerking movements of the arms or legs
  
• seizures
  
• unusual positioning of the hands
  

If left untreated, children may develop severe intellectual disabilities. Attention-deficit hyperactivity disorder (or “ADHD”) appears to be a common problem in children who don’t stick to a very low-phenylalanine diet.

Phenylalanine plays a role in the body's production of the pigment responsible for skin and hair color (called “melanin”). Therefore, infants with phenylketonuria often have lighter skin, hair and eyes than brothers or sisters without the disease.

Causes of Phenylketonuria

Phenylketonuria is an inherited disorder, meaning it’s passed down through families. Both parents must pass on the defective gene for a baby to have the condition. If a child is born with PKU and proteins containing phenylalanine aren’t avoided, it can lead to intellectual disabilities by the end of a baby’s first year of life.

How We Diagnose Phenylketonuria

PKU can be easily detected with a simple blood test. Every state in the United States requires a PKU screening test for all newborns as part of the newborn screening panel. The test is performed by taking a few drops of blood. If the initial screening test is positive, we can perform further blood and urine tests to confirm the diagnosis.

How We Treat Kids With Phenylketonuria

PKU is a treatable disease. Treatment involves a diet that’s extremely low in phenylalanine, especially during your child’s main growth phases. The diet calls for avoiding milk, eggs and the artificial sweetener NutraSweet, among other items. A special infant formula called “Lofenalac” is made for infants with PKU, and can even be used throughout your child’s life as a good protein source that’s low in phenylalanine and balanced for the remaining essential amino acids. Supplements such as fish oil, iron and carnitine may help improve neurologic development, including fine motor coordination (e.g., picking up small objects, stringing beads, using scissors, handwriting).

The diet must be strictly followed, and requires close supervision by a registered dietitian or doctor. Following the diet can help your child avoid developmental delays and lead a normal life. Your child will need to continue to follow the diet as an adult as well.

If the diet is closely followed, children can go on to enjoy relatively good health.

What Is Rett Syndrome?

Rett syndrome is a neurodevelopmental disorder of the grey matter in the brain. It affects primarily females, but has also been found, very rarely, in males. The disorder was named for Andreas Rett, MD, an Austrian physician who first described it in a journal article in 1966. Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births, and in all racial and ethnic groups worldwide. It may also be called “cerebroatrophic hyperammonemia,” the medical name for the condition.

Characteristics of Rett Syndrome

Children with Rett syndrome often have small hands and feet and may have a smaller head size for their age and gender than the average child (this is called “microcephaly”). Children may make repetitive hand movements — wringing them or repeatedly putting them into their mouths.
Typically, the children with Rett syndrome we see have no verbal skills, and about half don’t walk. Kids may also be prone to gastrointestinal (digestive) disorders, seizures, scoliosis (a curving of the spine), growth failure and constipation.

During infancy, children may progress normally, but experience slowed growth and development between 1 and 4 years old. There may be a loss of muscle tone (called “hypotonia”), difficulty feeding, jerkiness in limb movements and apraxia (the inability to perform motor functions, such as the ability to speak and maintain eye contact). These changes can be fairly sudden and rapid.

Some children with Rett syndrome have:

• autistic-like behaviors (such as problems with social skills, gestures and facial expressions, speech and language, repetitive movements and obsessive attachment to specific things)
  
• sleep problems
  
• a wide-based gait (walking with their legs far apart) or may not be able to walk
  
• a toe-walking gait (walking on their toes) or feet that turn inward
  scoliosis (a curving of the spine) or kyphosis (a rounding or hunching over of the back)
  
• teeth grinding
  
• difficulty chewing
  
• cognitive (thinking) disabilities
  
• breathing difficulties while awake, such as hyperventilation, apnea (breath holding) and air swallowing
  

Causes of Rett Syndrome

Nearly all cases of Rett syndrome are caused by a mutation (change) in a specific gene — called the “methyl CpG binding protein 2 (MECP2) gene.” This gene contains instructions for the synthesis of a protein needed for brain development and acts as one of the many biochemical switches that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. Mutations in other genes (called “CDKL5” and “FOXG1”) are also seen in children with Rett syndrome, but the role of these genes in the cause of the disorder is still being studied. Scientists believe a minority of cases may be caused by partial gene deletions or additional genes that have yet to be identified.

Although Rett syndrome is a genetic disorder, fewer than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.  

The gene is found on the X chromosome (there are two chromosomes, which carry all of our genetic messages, in each gene). Because girls have two copies of the X chromosome, the severity of Rett syndrome in girls depends on how many of their body’s cells are affected. If the X chromosomes that are carrying the defective gene are turned off in a large proportion of cells, the symptoms will be mild. If, however, the percentage of cells with defective genes is larger, onset of the disorder may occur earlier and the symptoms may be more severe.

Boys with Rett syndrome (because they have only one X chromosome) have no protection from the harmful effects of the disorder and frequently don’t live long after birth. A very small number of boys may have a different mutation in the “MECP2 gene” and can live past birth, although with some degree of intellectual disability and developmental problems.

How We Diagnose Kids With Rett Syndrome

Our physician specialists can clinically diagnose Rett syndrome by observing your child during an examination in our center, and by hearing about your child’s symptoms. If needed to confirm the diagnosis, we can order a genetic test to see if there’s an MECP2 mutation on your child’s X chromosome.  

We also may consult with one of the pediatric neurologists, clinical geneticists or developmental pediatricians who work with our center.

How We Treat Kids With Rett Syndrome

There’s no cure for Rett syndrome, but we can focus on managing your child’s symptoms. We offer an expert, supportive, multidisciplinary approach, involving specific medical specialties and therapists as needed. We may recommend medication for any breathing or motor difficulties, and anticonvulsant drugs to control seizures, if necessary. We’ll also check regularly for scoliosis (a curving of the spine) and heart abnormalities.

Occupational therapy may help your child develop the skills needed for performing activities such as dressing and feeding, and physical therapy and hydrotherapy can help your child maintain mobility. Some children may require nutritional assistance or special equipment and splints to modify hand movements. We offer academic, social and support services as well. Children with scoliosis and foot problems may require surgery, which can provide improved comfort and function.

Your child’s symptoms may require extra medical attention and care. However, many people with Rett syndrome continue to live well into middle age and beyond. We’ll do everything we can to help your child live as healthy and fulfilling a life as possible.

What Is Schizencephaly?

Schizencephaly is an extremely rare developmental birth defect that causes abnormal slits or clefts in the two sides (hemispheres) of the brain. The name comes from two Greek words meaning “to split the brain.”

Characteristics of Schizencephaly

Most babies with schizencephaly have seizures, and some have an excessive accumulation of fluid in the brain (hydrocephalus). Other symptoms vary, depending upon the type of clefts in a baby’s brain.

Babies with clefts in both hemispheres (called “bilateral clefts”) most often have:

• delays in development and speech and language skills
  
• difficulty controlling movement, since their brains have trouble communicating with their spinal cords
  

Some babies with clefts in only one hemisphere (called “unilateral clefts”) may have average to near-average intelligence. However, others have abnormally small heads (called “microcephaly”) and intellectual disability. They may also have partial or complete paralysis and poor muscle tone. The functional ability of these children ranges from a near normal walk to being unable to walk at all.

Causes of Schizencephaly

The cause of schizencephaly remains unknown. Possibilities include an infection, mutation or exposure to a toxin during development.

How We Diagnose Schizencephaly

Computed axial tomography (also called a “CAT” or “CT”) scan, a noninvasive medical imaging test of the head, can show the telltale damage to the hemispheres of the brain.

How We Treat Kids With Schizencephaly

Treatment generally consists of physical therapy and occupational therapy to help with motor control. Children may need medications to prevent seizures. If your child has excessive fluid in the brain, one of our neurosurgeons can surgically implant a tube (called a “shunt”) to divert the fluid to another area of the body where it can be absorbed. The prognosis for babies with schizencephaly varies, depending on the size of the clefts and the extent of neurological disabilities. These kids may develop scoliosis (a curving of the spine), hip dislocation and foot deformities, so they should be monitored by an orthopedist for appropriate preventive and corrective treatments.