Fragile X Syndrome Guide for Parents

Welcome to the Fragile X Parents Handbook from UPMC Children’s Hospital of Pittsburgh. The information and resources here will help you manage the care and enhance the development of a child in your life who has Fragile X.

In order to better serve the needs of patients with a diagnosis of Fragile X and their families, the Fragile X Center at Children’s Hospital continues to develop partnerships with specialty services within the hospital. Our aim is to provide specific consultation services, recommendations and treatment as appropriate. Most recently, the Division of Pediatric Ophthalmology at Children’s Hospital and The Children’s Eye Center agreed to join in our efforts to better address the needs of patients with Fragile X and their families.

The American Academy of Pediatrics recommends that an eye evaluation be performed early in a child’s life to check for visual problems commonly seen in patients with Fragile X. Children should be checked for strabismus (lazy eye or crossed eye) at six to 12 months.

The Children’s Eye Center will provide a half-day session monthly to schedule Fragile X patients for an outpatient evaluation at the center. An eye/vision report will be shared with you, your PCP and the Fragile X Center after your first visit.

What should you do?

If your child is 6 to 12 months, schedule an evaluation.

If your child is 2 years or older, he/she should have an annual eye evaluation.

How can you get this done?

Call the Division of Pediatric Ophthalmology at UPMC Children’s Hospital of Pittsburgh at 412-692-8940.

We are proud to share with you news of this partnership with the Division of Pediatric Ophthalmology. We look forward to our continued relationship with you, the Division of Pediatric Ophthalmology and other specialties within the hospital as we strive to serve children with Fragile X and their families.

If you have any questions for the Fragile X Center, please call 412-692-5561. Thank you for helping us to better serve you and your child.

Project Director/Medical Director
Robyn Filipink, MD

Clinician and Principal Research Investigator
Rebecca Kronk, CRNP, PhD

Clinic Coordinator and Data Manager
Paula Ciliberti, MA