Pediatric Neurogenetic Disorders

We focus on improving the quality of life in children with neurogenetic conditions.

Call to schedule an appointment with one of our pediatric neurologists:

A neurogenetic disorder is caused by changes in genes or chromosomes and affects the brain, spinal cord, nerves and muscles. There are hundreds of these complex and rare diseases, and they affect each child differently.

Our neurogenetic specialists use sophisticated technology to identify these rare conditions. Although there is no cure for these diseases, a team of specialists led by a pediatric neurologist can help. Treatment aims to improve your family’s quality of life and help your child reach their potential.

Neurogenetic Disorders We Treat

We can treat all types of neurogenetic disorders, no matter how rare or complex. Examples include:

SYNGAP1

Joe DiMaggio Children’s Hospital is one of only a few SYNGAP1 Centers of Excellence in the world. SYNGAP1 is a developmental and epileptic encephalopathy resulting from a defect in the SYNGAP gene. It can cause:

Autism
Behavioral issues
Coordination problems
Developmental delays
Low muscle tone
Seizures
Visual abnormalities

Although there’s no cure for SYNGAP1, various types of intense therapy can help children reach milestones and improve their quality of life. Certain medications and medical procedures can also help reduce symptoms of the disease. For example, antiepileptic drugs can control seizures. Your child’s care team may include specialists in related conditions, such as epilepsy and autism.

Dravet Syndrome

Joe DiMaggio Children’s Hospital is a specially designated Comprehensive Care Center by the Dravet Foundation.

Dravet syndrome is a type of epilepsy syndrome that can range in severity. In addition to seizures, it can cause problems with appetite, growth, balance and walking. In most cases, Dravet syndrome is caused by a mutation in the SCN1A gene.

To manage Dravet syndrome, your child needs early, accurate diagnosis and treatment from a team of specialists. Your child’s care will include an epilepsy specialist, multiple therapists and dietitians.

Angelman Syndrome

Angelman syndrome occurs when there’s a problem with the UBE3A gene located on chromosome 15. It can cause developmental delays, lack of speech skills and seizures. It’s also associated with eating, walking, balance, sleeping and behavior problems.

Various types of therapy can help you and your child manage Angelman syndrome, such as physical therapy, speech therapy and behavioral therapy. Medications also can help improve seizures and sleep. Our dietitians can help improve feeding problems and gastrointestinal issues.

22q11.2 (22q) Deletion Syndrome

Also known as DiGeorge syndrome or velocardiofacial syndrome, this condition occurs when a small piece of chromosome 22 is missing. It can cause several problems, including:

Abnormalities in the roof of the mouth
Autoimmune disease
Congenital heart disease
Feeding difficulties
Thyroid and other hormone problems

Some children may also have hearing loss, seizures, skeletal abnormalities, developmental delays and learning disabilities.

A multidisciplinary team is essential to help your child and family manage the effects of 22q deletion syndrome. At Joe DiMaggio Children’s Hospital, we have a special 22Q Multidisciplinary Clinic for children with this condition.

Your team may include specialists such as a neurologist, cardiologist, immunologist, endocrinologist, gastroenterologist, otolaryngologist, plastic surgeon, urologist, nephrologist or orthopedic surgeon. You may also need support from a child development specialist, psychologist, dietitian, speech pathologist, audiologist and orthodontist.

Neurogenetic Disorders: Why Choose Joe DiMaggio Children's Hospital?

When you bring your child to Joe DiMaggio Children’s Hospital for the diagnosis and treatment of a neurogenetic disorder, you’ll find:

Experienced specialists: Our neurologists are board certified and fellowship trained to identify and treat neurogenetic disorders in children. They have years of training in child neurology and extensive experience diagnosing and treating rare neurogenetic disorders. They lead a team of specialists to address how the condition affects your child.
Advanced diagnostic tools: We use advanced tools to fully understand your child’s condition. Our neurologists, laboratory scientists and genetic counselors will analyze genetic test results, brain images and other test results to make an accurate diagnosis.
Individualized care: There are many types of neurogenetic disorders, and they can affect each child differently. We design your child’s care to meet their unique needs and goals. We listen carefully and work with you to determine whether your child needs treatment or monitoring.
Welcoming environment: Our child life specialists create a welcoming environment for children and families so that the hospital experience is less scary. We have therapy dogs, low-sensory spaces and family areas to make your time here as comfortable and soothing as possible. If your child has surgery here, we offer the on-campus Conine Clubhouse as a special home away from home.
Partnership throughout childhood: We monitor your child over time as they grow and change — and as their condition changes with them. If your child needs lifelong care for a neurogenetic disorder, we start early to help them make a smooth transition to adulthood.