Fragile X Syndrome: For Researchers and Health Care Providers

American Academy of Pediatrics Clinical Guidelines

• Moeschler, J. B., Shevell, M.; American Academy of Pediatrics Committee on Genetics. (2006). Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics, 117(6), 2304–2316. PMID: 16740881

FRAXA Research Foundation
FRAXA’s mission is to accelerate progress toward effective treatments for Fragile X syndrome, and ultimately a cure, by directly funding promising research. FRAXA also supports families affected by Fragile X and raises awareness.

• Learn more about FRAXA-supported research.

National Fragile X Foundation
This foundation aims to provide information and advance research toward improved treatments and a cure for Fragile X and its associated disorders.

• Fragile X Clinical and Research Consortium
  The Consortium, organized by the National Fragile X Foundation, is comprised of clinical researchers and intervention professionals at clinics located in medical institutions throughout the U.S. and Canada. Those professionals are committed to providing state-of-the-art and comprehensive evaluation and treatment recommendations for families, and to building an infrastructure for the advancement of scientific research leading to a better understanding of Fragile X syndrome and associated disorders.

NICHD

Fragile X Syndrome Research Centers Program
The NICHD’s IDD Branch funds three Fragile X Syndrome Research Centers. These centers are geared toward stimulating multidisciplinary, multi-institutional research and translating basic research findings into clinical practice.

NIH Research Plan on Fragile X Syndrome and Associated Disorders (PDF - 440 KB)

National Society of Genetic Counselors (NSGC)
A membership organization and information resource for the profession, NSGC aims to advance education, research, and public policy. In 2005, the society released its recommendations regarding Fragile X syndrome.

• McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 14, 249-270. PMID: 16047089
• Find a genetic counselor.

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.