Pediatric Phelan-McDermid Syndrome

Symptoms of Phelan-McDermid syndrome often appear within a child’s first 6 months of life. A child with poor muscle tone may not be able to hold up their head and may seem floppy. They may roll over, sit up or walk later than usual or not at all.

Some symptoms, like speech delays, are noticeable as a child grows up. It’s estimated that 75% of children with Phelan-McDermid syndrome have an autism spectrum disorder.

Other signs of Phelan-McDermid syndrome include:

• Arachnoid cysts (fluid-filled sacs on the brain)
• Atrial septal defect (hole in the heart)
• Behavioral problems, such as aggression
• Digestive issues, such as constipation and reflux
• High pain tolerance
• Kidney abnormalities
• Seizures
• Sleep problems

A child with Phelan-McDermid syndrome may also have unique facial features, such as:

• Bulbous nose
• Deep-set eyes
• Flat midface
• Full, puffy cheeks
• Large, prominent ears
• Long head
• Wide brow and nasal bridge

Phelan-McDermid syndrome is so uncommon that some doctors haven’t heard of it. Others don’t have experience diagnosing a child with this condition. Our neurodevelopmental neurologists are among fewer than 50 specialists in the U.S. with expertise in this disease. We have helped many kids with the condition live their best lives.

This condition shares many similarities with Pitt-Hopkins syndrome. We’re experts at assessing a child’s symptoms and providing families with an accurate diagnosis. We offer:

• Genetic testing to check for differences in chromosomes that may explain a child’s condition. When possible, we use cheek swabs to make the process easier for your child. Sometimes, blood samples are needed.
• Diagnostic evaluations for autism that include observing your child perform tasks.
• Electroencephalogram (EEG) to diagnose seizures and measure electrical activity in the brain.
• Magnetic resonance imaging (MRI) to assess how the brain is formed structurally.
• Neurological tests to evaluate muscle and nerve function.

A mutation (change) in a gene called SHANK3 causes Phelan-McDermid syndrome. This gene produces an important protein the body needs to function properly. The SHANK3 gene is found in the 22q13 segment of chromosome 22 (chromosomes are tiny structures in your body that carry DNA). Some children are missing this segment altogether. Phelan-McDermid syndrome is sometimes called 22q13 deletion syndrome.

Experts don’t know why this gene change occurs or why certain children get Phelan-McDermid Syndrome. In many cases, the mutation is a brand new change in the patient. This means it was not inherited (passed down) from their parents and could not have been prevented or predicted.

Many parents feel responsible that their child has this syndrome. But it isn’t parents’ fault and there is nothing they could have done to prevent it. Parents should never, ever feel guilty when their child has a genetic disease.

Phelan-McDermid syndrome is a lifelong condition that requires care from many different specialists. At Children’s Health℠, your family sees all these specialists in one convenient location. Our experts work as a team to customize treatments specific to your child’s unique needs.

Treatments vary depending on symptoms and may include:

• Behavioral therapy to help children function better in the classroom and at home, and to manage aggressive behaviors
• Medications for seizures, sleep issues, behavioral problems, stomach problems or other medical problems
• Nutrition counseling to manage feeding problems that may impact how they grow and develop, and to help stomach issues like constipation
• Occupational therapy for fine-motor skills and to foster self-care skills like feeding and dressing oneself
• Physical therapy to improve core strength, muscle function and mobility
• Speech therapy for feeding issues and to improve communication through sign language, picture boards or language apps on a tablet or handheld device