Phelan-mcdermid syndrome


If someone has Phelan-McDermid syndrome, what should their primary care provider do to manage Phelan-McDermid syndrome?

If someone has Phelan-McDermid syndrome, their primary care provider should consider the following:

  • Complete neurologic and physical evaluation.
  • Monitor head circumference, weight, and height. Most children with Phelan-McDermid syndrome are taller than their peers but have normal weight. Most adults with Phelan-McDermid syndrome are normal height and weight. Head circumference is usually normal, but less than 5% of people with Phelan-McDermid syndrome have a small head (microcephaly).
  • Consider brain imagining (MRI, CT) in individuals with microcephaly.
  • Consider EEG in individuals with seizures to help determine the appropriate antiepileptic drugs (AEDs). An EEG may also be used to detect subclinical seizure activity.
  • Ensure that these individuals are receiving proper services and educational support (speech therapy, occupational therapy, physical therapy, special education, individualized education plan (IEP), etc.).
  • Assess for feeding problems, kidney abnormalities, gastroesophageal reflux, cyclic vomiting, irritability, and persistent crying.
  • Assess vision and hearing.
  • Refer to the necessary specialists as needed.

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