Fragile X syndrome

Treatment

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/treatment-intervention/fragile-x-clinics/.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fragile-x-syndrome/treatment/18035 • DATE UPDATED: 2016-06-15

References

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

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