Centers of Excellence

Fragile X Clinic

The Fragile X Clinic at Barrow Neurological Institute at Phoenix Children's Hospital is a comprehensive, multi-disciplinary clinic focused on the coordinated care and management of children with Fragile X Syndrome and their affected family members. Developmental Pediatrics is joined by Genetics, Physical therapy, Occupational therapy and Speech therapy to provide a holistic and comprehensive evaluation of each patient. The Fragile X Clinic is an established Fragile X Regional Center with the National Fragile X Foundation (NFXF).

Through a grant with the Centers for Disease Control (CDC), the NFXF has developed the Fragile X Clinical and Research Consortium (FXCRC). The Fragile X Clinic at Barrow at Phoenix Children’s is an active participant in providing registry information to FXCRC with the ultimate goal of being able to foster the dissemination of scientific and clinical data among researchers and providers.

Fragile X is a family of conditions associated with changes in the Fragile X gene. Fragile X syndrome is the most common known cause of inherited intellectual disability and affects 1 in 3600 individuals and, in boys, can also cause Autism. Fragile X affects other members of the family as well, causing Primary Ovarian Insufficiency (FX-POI) in women and Fragile X Tremor / Ataxia Syndrome (FX-TAS) in adults over 50 years. 

Treating Fragile X

Each child seen in Fragile X Clinic is seen by a Developmental Pediatrician / Nurse Practitioner and Genetics. Most patients are also evaluated by rehabilitation services (Speech, Occupational Therapists, and Physical Therapists) varying upon insurance approval. The Program Coordinator works with each family. There is a virtual of team of other medical subspecialty providers at Phoenix Children’s Hospital and in the community who are dedicated to working with children with Fragile X Syndrome and their families. 

Program Leadership

Robin K. Blitz, MD, FAAP, Director- Developmental Pediatrics

Theresa Grebe, MD- Genetics

Amber Wright, RN, MSN, CPNP- Developmental Pediatrics

Kathleen Prenovost, PT, DPT-Physical Therapy

Jessica Duquette, OTR- Occupational Therapy

Teresa Domrzalski, MS, CCC-SLP- Speech Therapy

Kiran Aurora, MEd- Program Coordinator

Contact/Referral Information

Program Coordinator – Kiran Aurora, MEd

602-933-0635

Kaurora1@phoenixchildrens.com

Local Resources 

Fragile X Information

Fraxa Reseach Foundation

Fraxa A to Z Guide for Families: English

The National Fragile X Foundation

 

 

 

Share this page: 

|