In this Article

• Fragile X syndrome facts*
• What is Fragile X syndrome?
• What causes Fragile X syndrome?
• What keeps the FMR1 gene from producing FMRP in Fragile X syndrome?
• Human cells 101
• How many people are affected by Fragile X syndrome?
• How is Fragile X syndrome inherited?
• What are the signs and symptoms of Fragile X syndrome?
• Intelligence and learning
• Physical
• Social and emotional
• Speech and language
• Sensory
• Is there a cure for Fragile X syndrome?
• Are there treatments for Fragile X syndrome?
• Educational options
• Therapeutic options
• Medication options
• What are the options for adults who have Fragile X syndrome?
• What should I do if I find out someone in my family has Fragile X syndrome?
• What is being done to develop treatments or a cure for Fragile X syndrome?
• Where can I go for more information about Fragile X syndrome?
• References
• Patient Comments: Fragile X Syndrome - Experience
• Fragile X Syndrome Index

¹ Harris-Schmidt, G. Characteristics of Cognitive Development. National Fragile X Foundation. Available at www.fragilex.org/html/cognitive.htm. Web site last modified April 1, 2003.

² Finucane, B.; McConkie-Rosell, A.; and Cronister, A. (2002). Fragile X Syndrome: A Handbook for Families and Professionals (Newburyport, MA: The National Fragile X Foundation).

³ Crawford, D.C.; Acuña, J.M.; and Sherman, S.L. (2001). FMR1 and the Fragile X Syndrome: Human Genome Epidemiology Review. Genetics in Medicine 3(5):359-371.

⁴ From the Your Genes, Your Health Web site, Dolan DNA Learning Center, Cold Spring Harbor Laboratory; www.yourgenesyourhealth.org/ygyh/
mason/ygyh.html? syndrome=fragx.

⁵ Crawford, D.C.; Acuña, J.M.; and Sherman, S.L. (2001). FMR1 and the Fragile X Syndrome: Human Genome Epidemiology Review. Genetics in Medicine 3(5):359-371.

⁶ From the FRAXA Web site (www.FRAXA.org): Bailey, D.B., and Nelson, D. (1995). The Nature and Consequences of Fragile X Syndrome. Mental Retardation and Developmental Disabilities Research Reviews 1:238-244.

⁷ American Psychiatric Association (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (Washington, DC: American Psychiatric Association).

⁸ Hagerman, R. (2001). Meeting the Challenge of Fragile X Syndrome. Patient Care 31(14).

⁹ Harris-Schmidt, G. What Are Some Important Teaching Strategies? National Fragile X Foundation. Available at www.fragilex.org/html/teaching.htm. Web site last modified April 1, 2003.

¹⁰ Hagerman, R.J.; Leehy, M.; Heinrichs, W.; et al. (2001). Intention Tremor, Parkinsonism, and Generalized Brain Atrophy in Male Carriers of Fragile X. Neurology 57(1):127-130.

¹¹ Allingham-Hawkins, D.J.; Babul-Hirji, R.; Chitayat, D.; et al. (1999). Fragile X Premutation is a Significant Risk Factor for Premature Ovarian Failure: The International Collaborative POF in Fragile X Study-Preliminary Data. American Journal of Medical Genetics 83(4):322-325.

¹² Uzielli, M.L.; Guarducci, S.; Lapi, E.; et al. (1999). Premature Ovarian Failure (POF) and Fragile X Premutation Females: From POF to Fragile X Carrier Identification, from Fragile X Carrier Diagnosis to POF Association Data. American Journal of Medical Genetics 84(3):300-303.

¹³ American College of Obstetricians and Gynecologists (2000). The Menopause Years (Washington, DC: American College of Obstetricians and Gynecologists).

¹⁴ Bailey, D.B., Jr.; Hatton, D.D.; Mesibov, G.; Ament, N.; and Skinner, M. (2000). Early Development, Temperament, and Functional Impairment in Autism and Fragile X Syndrome. Journal of Autism and Developmental Disorders 30(1):49-59.

¹⁵ Rogers, S.J.; Wehner, D.E.; and Hagerman, R. (2001). The Behavioral Phenotype in Fragile X: Symptoms of Autism in Very Young Children With Fragile X Syndrome, Idiopathic Autism, and Other Developmental Disorders. Developmental and Behavioral Pediatrics 22(6):409-417.

¹⁶ Bauchwitz, R.P. (2000). Biomolecular Approaches to Fragile X Syndrome Therapy. Available at http://www.fragilex.org/BIOMOLECULAR_APPROACHES_TO_
FRAGILE_X_SYNDROME_THERAPY.pdf.

¹⁷ Hagerman, R.J.; and Hagerman, P.J. (eds.) (2002). Fragile X Syndrome: Diagnosis, Treatment, and Research, Third Edition (Baltimore, MD: Johns Hopkins University Press).

¹⁸ Adapted from http://www.fragilex.org/html/pharmacotherapy.htm Web site last updated May 2002.

¹⁹ Prows, C.A., and Lovell, A.M. (1998). Ask the Expert. Genetic Testing for Fragile X. Journal of the Society for Pediatric Nurses 3(14):161-166.

²⁰ American College of Medical Genetics (1994). Fragile X Syndrome: Diagnosis and Carrier Testing. Working Group of the Genetic Screening Subcommittee of the Clinical Practice Committee. American College of Medical Genetics. Ameican Journal of Medical Genetics 53(4):380-381.

SOURCE: National Institute of Child Health and Human Development (NICHD)