Fragile X syndrome

Healthcare/Doctors

What specialist doctors should I see with fragile X syndrome?

Because individuals with fragile X syndrome often have varying degrees of developmental delay, it is recommended that they see a Developmental-Behavioral Pediatrician. It is also recommended that they seek additional guidance from a physician and/or clinic with experience with fragile X syndrome to coordinate their overall care specific to their diagnosis of fragile X syndrome. A list of these clinics can be found at the National Fragile X Foundation website by visiting https://fragilex.org/treatment-intervention/fragile-x-clinics/.

Additional specialists that an individual with fragile X syndrome may need to seek support from include:

  • Occupational Therapist
  • Physical Therapist
  • Speech and Language Therapist
  • Behavioral Therapist
  • Psychiatrist
  • Neurologist, if seizures are present
  • Ear, Nose, and Throat specialist, if chronic ear infections are present
  • Gastroenterologist, if GERD, loose stools, or other GI concerns are present

https://fragilex.org/treatment-intervention/

Kidd, Sharon A., et al. "Fragile X syndrome: a review of associated medical problems." Pediatrics 134.5 (2014): 995-1005.

http://www.ncbi.nlm.nih.gov/pubmed/25287458

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