Fragile X syndrome

Symptoms

What diseases look similar to fragile X syndrome?

Fragile X syndrome often looks very similar to Autism Spectrum Disorder (ASD). Developmental delay, cognitive impairment, stereotypic (repetitive, without function) behaviors such as hand flapping and body rocking, and gaze avoidance are features present both in individuals with autism and individuals with fragile X syndrome. Individuals who are suspected to have ASD should be tested for fragile X syndrome. Individuals who have unexplained developmental delay, especially speech delay, and cognitive impairment should also be tested for fragile X syndrome.

The following disorders and syndromes can also be included in the list of possible diagnoses when a person is being evaluated and can look similar to fragile X syndrome:

  • Sotos syndrome
  • Prader-Willi syndrome
  • Attention deficit-hyperactivity disorder (ADHD)
  • Fragile XE syndrome

To locate a clinic that specializes in evaluation and testing for fragile X syndrome, please visit https://fragilex.org/treatment-intervention/fragile-x-clinics/.

Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine. 2005;7(8):584-587. doi:10.1097/01.GIM.0000182468.22666.dd.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110946/#b1-16247297

http://www.ncbi.nlm.nih.gov/books/NBK1384/

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