Fragile X syndrome
What are the first steps after the initial diagnosis of fragile X syndrome?
Once a person is diagnosed with fragile X syndrome, their doctor should discuss a variety of issues with the family, including treatment options, referrals to specialists or a specialty clinic, and genetic counseling for family members. The following is a list of what steps should be taken after a person is diagnosed with fragile X syndrome:
- For babies, a feeding assessment to make sure they are not having problems eating
- A complete physical evaluation paying special attention to look for characteristics that are common with fragile X syndrome
- A complete developmental and educational assessment (which should include speech and language tests as well as physical and occupational therapy evaluation)
- A complete behavioral and psychological assessment
- Blood pressure testing
- Heart evaluation
- Eye doctor appointment
- Thorough history to assess for previous seizures and recurring ear inflammation
To learn more information and find a fragile X syndrome clinic near you, please visit https://fragilex.org/our-research/fragile-x-clinics/.