Fragile X Syndrome (cont.)
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
- Social and emotional
- Speech and language
- 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?
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/
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_
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)
Last Editorial Review: 3/27/2008
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