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References
  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.

Acknowledgements

The NICHD would like to thank: Donald Bailey, Gary Bassell, Robert Bauchwitz, David and Mary Beth Busby, Katie Clapp, Jennifer Darnell, Randi Hagerman, Robert Miller, Mario Rattazzi, Stephanie Sherman, Mike Tranfaglia, and Stephen Warren.

Some photographs on pages ii, 7, 19, 21, 27, 29, 32, 33, 34, and 37 by Franklin Avery Photography, courtesy of the National Fragile X Foundation. All other photographs by Tina Williams Photography.

Based on a manuscript by Sharyn Neuwirth.

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