Identification and management of fragile X syndrome: A GP's perspective

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Dr Jonathan Cohen, parent and medical director, Fragile X Alliance Clinic, provides information regarding the identification and management of fragile X syndrome in primary care.
This video was recorded on 19 January 2017.

Questions asked in the video

  1. When should you consider a diagnosis of fragile X syndrome? 0:08
  2. Why is it important to get a diagnosis? 1:17
  3. What is the role of family history in forming a diagnosis? 1:55
  4. What should a GP do when a diagnosis of fragile X syndrome is confirmed? 2:45
  5. Are carriers of the fragile X gene mutation asymptomatic? 3:30
  6. What role can GPs play in managing the overall health of people with fragile X syndrome? 4:47
  7. What are the benefits of carrier screening? 6:05

This program is supported by the Fragile X Association of Australia.