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Fragile X Syndrome (cont.)

Where can I go for more information about Fragile X syndrome?

The National Institute of Child Health and Human Development (NICHD)

The mission of the NICHD is to ensure that every person is born healthy and wanted, that women suffer no harmful effects from reproductive processes, and that all children have the chance to achieve their full potential for healthy and productive lives, free from disease or disability, and to ensure the health, productivity, independence, and well-being of all people through optimal rehabilitation. The NICHD Information Resource Center is your one-stop source for NICHD brochures, booklets, and other materials related to the health of children, adults, families, and populations.

You can contact the NICHD Information Resource Center at

Mail: P.O. Box 3006, Rockville, MD 20847
Phone: 1-800-370-2943
Fax: 301-984-1473
E-mail: NICHDInformationResourceCenter
@mail.nih.gov

Internet: www.nichd.nih.gov

National organizations

The following organizations of families affected by Fragile X are excellent sources of practical information and support. Each of these organizations publishes a newsletter with up-to-date information about current research, conferences, and legislation.

Additional Resources

  • The ARC of the United States-1010 Wayne Avenue, Suite 650, Silver Spring, MD 20910; 301-565-3842; fax 301-565-3843; www.thearc.org.
  • American Association on Mental Retardation-444 North Capitol Street, NW, Suite 846, Washington, DC 200011512; 202-387-1968 or 800-424-3688; fax 202-387-2193; www.aamr.org.
  • Association of University Centers on Disabilities-8630 Fenton Street, Suite 410, Silver Spring, MD 20910; 301-588-8252; fax 301-588-2842; www.aucd.org.
  • The Dolan DNA Learning Center, Cold Spring Harbor Laboratory provides clear explanations of the cause, diagnosis, and treatment of Fragile X; www.dnalc.org.
  • GeneTests Web site. Funded in part by the National Library of Medicine at the NIH, the Web site provides information on genetic disorders, testing, and contact information for clinical laboratories that do genetic tests; www.genetests.org.
  • American Academy of Pediatrics. (1996). Policy Statement: Health Supervision for Children with Fragile X Syndrome. Pediatrics 98(2):297-300. Available online at www.aap.org/policy/01493.html.

Medically reviewed by Edward Spence, MD; American Board of Pediatrics and American Board of Medical Genetics with subspecialties in Clinical Genetics, Clinical Biochemical Genetics, Clinical Molecular Genetics

Last update: 3/27/2008

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

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.< br /> 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.


Medically Reviewed by a Doctor on 4/4/2014

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Fragile X Syndrome - Experience Question: Please describe your experience with fragile x syndrome.
Fragile X Syndrome - Symptoms Question: What symptoms do you or your loved one experience from fragile X syndrome? How do you cope?
Fragile X Syndrome - Carrier Question: Did you ever undergo genetic testing to see if you are a fragile X syndrome carrier?
Fragile X Syndrome - Educational Options Question: Do you have a child with Fragile X? Please discuss the educational opportunities in which your child has participated.
Fragile X Syndrome - Social and Emotional Issues Question: How does your child with Fragile X deal with social situations? Please share how you cope with your child's emotional issues.
Source: MedicineNet.com
http://www.medicinenet.com/fragile_x_syndrome/article.htm

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