Meet our Team
What is Fragile X?
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, and the most common known single-gene mutation leading to autism spectrum disorders. FXS has a complex inheritance pattern, and features may vary widely from person to person.
Some of the varying physical features that may be present include characteristic facial features (such as prominent ears, elongated face, prominent forehead or chin, high arched palate), and poor motor coordination.
Neurodevelopmental and behavioral issues may include developmental delays, learning problems, intellectual disability, social anxiety, problems with behavioral regulation, and autistic behaviors. We are learning more about FXS and associated issues every day, through scientific advances in basic, translational, and clinical trial research.
What to Expect During your Visit
During your clinic visit, we will:
- Discuss Fragile X syndrome and its associated disorders
- Review your genetic results
- Complete a physical and neurologic examination
- Provide a comprehensive developmental assessment
- Discuss the recommended healthcare guidelines for children with Fragile X syndrome
- Work with you to develop an appropriate intervention plan
- Discuss and prescribe medications, when indicated
- Offer genetic testing for family members
- Provide information on research opportunities
- Make referrals to specialists if necessary
- Address any concerns or questions you have