Phelan-mcdermid syndrome


Should people with Phelan-McDermid syndrome see any medical specialists?

Individuals with Phelan-McDermid syndrome may need care from a variety of medical specialists. The exact specialists they see will depend on their medical concerns. Some of the medical specialists they may need are the following:

  1. Speech therapist, occupational therapist, and physical therapist to evaluate cognitive, language, and motor development and social skills.
  2. Neurologist to evaluate developmental delay due to low muscle tone and if there is a concern for seizures and brain abnormalities.
  3. Gastrointestinal and feeding specialists for reflux, vomiting, and failure to thrive.
  4. Ophthalmology to assess the eyes.
  5. Otolaryngologist (ENT) and audiologist for formal hearing evaluations and ear concerns.
  6. Nephrologist/urologist to monitor kidneys .
  7. Endocrinologist if thyroid abnormalities are noted.
  8. Sleep specialist if there are sleep concerns or suspicion for sleep apnea.
  9. Routine dental examinations, and possible referral to an orthodontist in the future.
  10. Medical geneticist and genetic counselor.

Talk to your doctor if there are any health concerns that an individual with Phelan-McDermid syndrome has for which he/she is not currently receiving treatment so the correct specialist can be seen.

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Is there a cure for Phelan-McDermid syndrome?

How will a genetic diagnosis of Phelan-McDermid syndrome help my baby/child and my family?

Are there therapies specifically for Phelan-McDermid syndrome?

Is there a cure for Phelan-McDermid syndrome?

There is no cure for Phelan-McDermid syndrome. It is not possible to replace missing pieces of genetic information or chromosomes. Treatment is limited to management, surveillance, and targeted therapies of medical concerns. Contact the United Stated National Institutes of Health for any current treatments of Phelan-McDermid syndrome.

How will a genetic diagnosis of Phelan-McDermid syndrome help my baby/child and my family?

Receiving a diagnosis of Phelan-McDermid syndrome can help guide an individual’s medical care and can the primary care provider better recognize and treat medical concerns. This diagnosis can also assist with establishing educational, developmental, and supportive services. Genetic testing can be offered to other family members if someone is found to have Phelan-McDermid syndrome. If a baby or child is found to be affected, testing should be offered to parents to see if they carry a balanced chromosome rearrangement. If a parent is found to have a balanced chromosome rearrangement, testing should then be offered to other children who have medical concerns, and to siblings and parents to see if they also carry a balanced chromosome rearrangement. Talk to your doctor about testing for Phelan-McDermid syndrome or ask your doctor to refer you to a medical geneticist.

Are there therapies specifically for Phelan-McDermid syndrome?

As of June 2016, there are currently therapies under investigation for Phelan-McDermid syndrome. They are the following:

  1. Intranasal insulin (INIT). One study showed improvements with motor skills, behavior, and understanding.
  2. Risperidone. One study reported that low doses of this treatment improved mood, sleep, and behaviors in an 18-year-old female with Phelan-McDermid syndrome.

You can contact the United States National Institutes of Health to find out if there are other clinical trials involving Phelan-McDermid syndrome.

  • Schmidt H, Kern W, Giese R, Hallschmid M, Enders A. Intranasal insulin to improve the developmental delay in children with 22q13 deletion syndrome: and exploratory clinical trial. J Med Genet. 2009;46:217-22. PMID:18948358
  • Pasini A, D'Agati E, Casarelli L, Curatolo P. Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome. Brain Dev. 2010 May;32(5):425-7. PMID:19428206.

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