Identification and management of fragile X syndrome: A GP's perspective
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
- When should you consider a diagnosis of fragile X syndrome? 0:08
- Why is it important to get a diagnosis? 1:17
- What is the role of family history in forming a diagnosis? 1:55
- What should a GP do when a diagnosis of fragile X syndrome is confirmed? 2:45
- Are carriers of the fragile X gene mutation asymptomatic? 3:30
- What role can GPs play in managing the overall health of people with fragile X syndrome? 4:47
- What are the benefits of carrier screening? 6:05
This program is supported by the Fragile X Association of Australia.