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. 2007:3–40. doi: 10.1007/0-387-32931-5_1

Epidemiology and Etiology of Mental Retardation

Suzanne McDermott 6, Maureen S Durkin 7, Nicole Schupf 8, Zena A Stein 8
Editors: John W Jacobson3, James A Mulick4, Johannes Rojahn5
PMCID: PMC7122227

Abstract

Mental retardation (MR) is a manifestation of a heterogeneous set of impairments and conditions that result in cognitive limitation. It is a condition of medical, educational, and social importance. Physicians identify profound, severe, and moderate MR but rarely diagnose mild MR unless it is associated with a genetic or medical syndrome. From a medical perspective, the quest for etiology and the possibility of medical or surgical intervention to minimize deterioration are paramount. Educators, on the other hand are less concerned with causation than with academic achievement and school success. The majority of cases of mild MR is identified in school settings. Finally, the public uses the label to describe poor adaptive skills. Adults with MR who hold jobs, live independently, and participate in society are not always described as having MR. Thus some individuals characterized in childhood or adolescence as having mild MR become indistinguishable from the general population in adulthood.

Keywords: Traumatic Brain Injury, Mental Retardation, Down Syndrome, Iodine Deficiency, Williams Syndrome

Contributor Information

James A. Mulick, Email: mulick.1@osu.edu

Johannes Rojahn, Email: jrojahn@gmu.edu.

REFERENCES

  1. Agency for Toxic Substances and Disease Registry. (2000). Case studies in environmental medicine: Lead toxicity. Atlanta, GA: Author.
  2. Albrecht U., Sutcliffe J. S., Cattanach B. M., Beechey C.V., Armstrong D., Eichele G., et al. Imprinted expression of the murine Angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons. Nature Genetics. 1997;17(1):75–78. doi: 10.1038/ng0997-75. [DOI] [PubMed] [Google Scholar]
  3. Amar H. S., Ho J. J., Mohan A. J. Human immunodeficiency virus prevalence in women at delivery using unlinked anonymous testing of newborns in the Malaysian setting. Journal of Paediatrics and Child Health. 1999;35(1):63–66. doi: 10.1046/j.1440-1754.1999.00334.x. [DOI] [PubMed] [Google Scholar]
  4. American Association on Mental Retardation. (1992). Mental retardation: Definition, classification, and systems of supports (9th ed.). Washington, DC: Author.
  5. American Association on Mental Retardation. (2002). Mental retardation: Definition, classification, and systems of supports (10th ed.). Washington, DC: Author.
  6. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: Author.
  7. Annegers J. F., Grabow J. D., Kurland L. T., Laws E. R. The incidence, causes, and secular trends of head trauma in Olmsted County, Minnesota, 1935–1974. Neurology. 1980;30(9):912–919. doi: 10.1212/wnl.30.9.912. [DOI] [PubMed] [Google Scholar]
  8. Aries F., Rodriquez I., Rayne S. C., Krausu F. T. Maternal placental vasculopathy and injection: Two distinct subgroups among patients with preterm labor and preterm ruptured membranes. American Journal of Obstetrics and Gynecology. 1993;168(2):585–591. doi: 10.1016/0002-9378(93)90499-9. [DOI] [PubMed] [Google Scholar]
  9. Baghurst P. A., McMichael A. J., Wigg N. R., Vimpani G. V., Robertson E. F., Roberts R. J., et al. Environmental exposure to lead and children’s intelligence at the age of seven years. New England Journal of Medicine. 1992;327(18):1279–1284. doi: 10.1056/NEJM199210293271805. [DOI] [PubMed] [Google Scholar]
  10. Baird P. A., Sadovnick A. D. Life expectancy in Down’s syndrome. Journal of Pediatrics. 1987;110(6):849–854. doi: 10.1016/S0022-3476(87)80395-5. [DOI] [PubMed] [Google Scholar]
  11. Battaglia A., Carey J. C. Diagnostic evaluation of developmental delay/mental retardation: An overview. American Journal of Medical Genetics. 2003;117C:3–14. doi: 10.1002/ajmg.c.10015. [DOI] [PubMed] [Google Scholar]
  12. Baumeister A. A., Kupstas F. D. The new morbidity: Implications for prevention and amelioration. In: Clarke A. D. B., Evan P., editors. Combating mental handicap: A multidisciplinary approach. London: A.B. Academic; 1991. pp. 46–72. [Google Scholar]
  13. Baumeister A. A., Woodley-Zanthos P. Prevention: Biological factors. In: Jacobson J. W., Mulick J. A., editors. Manual of diagnosis and professional practice in mental retardation. Washington, DC: American Psychological Association; 1996. [Google Scholar]
  14. Bell M. V., Hirst M. C., Nakahori Y., MacKinnon R. N., Roche A., Flint T. J., et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell. 1991;64:861–866. doi: 10.1016/0092-8674(91)90514-Y. [DOI] [PubMed] [Google Scholar]
  15. Belman A. L. Acquired immunodeficiency syndrome in the child’s central nervous system. Pediatric Clinics of North America. 1992;39(4):691–714. doi: 10.1016/s0031-3955(16)38371-7. [DOI] [PubMed] [Google Scholar]
  16. Bennett F. C., Sells C. J., Brand C. Influences on measured intelligence in Down’s syndrome. American Journal of Diseases in Children. 1979;133(7):700–703. doi: 10.1001/archpedi.1979.02130070036007. [DOI] [PubMed] [Google Scholar]
  17. Beuren A. J., Apitz J., Harmajanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235–1240. doi: 10.1161/01.cir.26.6.1235. [DOI] [PubMed] [Google Scholar]
  18. Blomquist H. K., Gustavson K. H., Holmgren G. Mild mental retardation in children in a northern Swedish county. Journal of Mental Deficiency Research. 1981;25(Pt. 3):169–186. doi: 10.1111/j.1365-2788.1981.tb00107.x. [DOI] [PubMed] [Google Scholar]
  19. Bower L., Leonard H., Petterson B. Intellectual disability in Western Australia. Journal of Paediatrics and Child Health. 2000;36(3):213–215. doi: 10.1046/j.1440-1754.2000.00480.x. [DOI] [PubMed] [Google Scholar]
  20. Boylan L., Stein Z. The epidemiology of HIV infection in children and their mothers-vertical transmission. Epidemiologic Reviews. 1991;13:143–177. doi: 10.1093/oxfordjournals.epirev.a036067. [DOI] [PubMed] [Google Scholar]
  21. Broman S., Nichols P. L., Shaughnessy P., Kennedy W. Retardation in young children: A developmental study of cognitive deficit. Hillsdale, NJ: Erlbaum; 1987. [Google Scholar]
  22. Brown W. T., Jenkins E. C., Friedman E. Autism is associated with the fragile-X syndrome. Journal of Autism and Developmental Disorders. 1982;12(3):303–308. doi: 10.1007/BF01531375. [DOI] [PubMed] [Google Scholar]
  23. Buck G. M. Epidemiologic perspective of the developmental neurotoxicity of PCBs in humans. Neurotoxicology and Teratology. 1996;18(3):239–241. doi: 10.1016/S0892-0362(96)90009-4. [DOI] [PubMed] [Google Scholar]
  24. Budarf M. L., Emanuel B. S. Progress in the autosomal segmental aneusomy syndromes (SASs): Single or multi-locus disorders? Human Molecular Genetics. 1997;6(10):1657–1665. doi: 10.1093/hmg/6.10.1657. [DOI] [PubMed] [Google Scholar]
  25. Cao X. Y., Jiang X. M., Dou Z. H., Rakeman M. A., Zhang M. L., O’Donnell K., et al. Timing of vulnerability of the brain to iodine deficiency in endemic cretinism. New England Journal of Medicine. 1994;331(26):1739–1744. doi: 10.1056/NEJM199412293312603. [DOI] [PubMed] [Google Scholar]
  26. Centers for Disease Control and Prevention Trends in fetal alcohol syndrome—United States, 1979–1993. JAMA. 1995a;273(18):1406. [PubMed] [Google Scholar]
  27. Centers for Disease Control and Prevention Progress toward elimination of Haemophilus influenzae type b disease among infants and children—United States, 1993–1994. Morbidity and Mortality Weekly Report. 1995b;44(29):545–550. [PubMed] [Google Scholar]
  28. Centers for Disease Control and Prevention Rubella and congenital rubella syndrome—United States, 1994–1998. Morbidity and Mortality Weekly Report. 1997a;46(16):350–354. [PubMed] [Google Scholar]
  29. Centers for Disease Control and Prevention. (1997b). Update: Blood lead levels—United States, 1991–1994. JAMA, 277(13), 1031–1032. [PubMed]
  30. Centerwall S. A., Centerwall W. R. A study of children with Mongolism reared in the home compared to those reared away from the home. Pediatrics. 1960;25:678–685. [PubMed] [Google Scholar]
  31. Chechlacz M., Gleeson J. G. Is mental retardation a defect of synapse structure and function? Pediatric Neurology. 2003;29:11–17. doi: 10.1016/S0887-8994(03)00152-8. [DOI] [PubMed] [Google Scholar]
  32. Chudley A. E., Knoll J., Gerrard J. W., Shepel L., McGahey E., Anderson J. Fragile (X) X-linked mental retardation. I. Retardation between age and intelligence and the frequency of expression of fragile (X) (q28) American Journal of Medicine Genetics. 1983;14(4):699–712. doi: 10.1002/ajmg.1320140412. [DOI] [PubMed] [Google Scholar]
  33. Clarke A. M., Clarke A. D. B. Early experience: Myth and evidence. New York: Free; 1976. [Google Scholar]
  34. Clarke D., Boer H., Cheung M., Sturney P., Webb T. Maladaptive behavior in Prader–Willi syndrome in adults life. Journal of Intellectual Disability Research. 1996;40(Pt. 2):159–165. doi: 10.1046/j.1365-2788.1996.743743.x. [DOI] [PubMed] [Google Scholar]
  35. Clements P. R., Bates M. V., Hafer M. Variability within Down’s syndrome (trisomy- 21): Empirically observed sex differences in IQs. Mental Retardation. 1976;14(1):30–31. [PubMed] [Google Scholar]
  36. Cohen W., editor. Cherry and Merkatz’s complications of pregnancy. 5. Philadelphia, PA: Lippincott; 2000. [Google Scholar]
  37. Connolly B. H., Morgan S. B., Russell F. F. Evaluation of children with Down syndrome who participated in an early intervention program. Physical Therapy. 1984;64(10):150–151. doi: 10.1093/ptj/64.10.1515. [DOI] [PubMed] [Google Scholar]
  38. Creasy R. K., Iams J. D. Preterm labor and delivery. In: Creasy R. K., Rasnik R., editors. Maternal-fetal medicine. 4th. Philadelphia, PA: Saunders; 1999. pp. 498–531. [Google Scholar]
  39. Cuckle H. S., Wald N. J., Thompson S. G. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. British Journal of Obstetrics and Gynaecology. 1987;94(5):387–402. doi: 10.1111/j.1471-0528.1987.tb03115.x. [DOI] [PubMed] [Google Scholar]
  40. Czeizel A. E. Folic acid in the prevention of neural tube defects. Journal of Pediatric Gastroenterology and Nutrition. 1995;20(1):4–16. doi: 10.1097/00005176-199501000-00003. [DOI] [PubMed] [Google Scholar]
  41. Davidson P.W., Myers G. J., Cox C., Axtell C., Shamlaye C., Sloane-Reeves J., et al. Effects of prenatal and postnatal methylmercury exposure from fish consumption on neurodevelopment: Outcomes at 66 months of age in the Seychelles Child Development Study. JAMA. 1998;280(8):701–707. doi: 10.1001/jama.280.8.701. [DOI] [PubMed] [Google Scholar]
  42. Dennis W. Children of the crèche. New York: Appleton-Century-Croft; 1973. [Google Scholar]
  43. de Vries B. B., Jansen C. C., Duits A. A., Verheij C., Willemsen R., van Hemel J. O., et al. Variable FMR1 gene methylation of large expansion leads to variable phenotype in three males from one fragile X family. Journal of Medical Genetics. 1996;33(12):1007–1010. doi: 10.1136/jmg.33.12.1007. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. de Vries B. B., van den Ouweland A. M., Mohkamsing S., Duivenvoorden H. J., Mol E., Gelsema K., et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative Fragile X Study Group. American Journal of Human Genetics. 1997;61(3):660–667. doi: 10.1086/515496. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Donders G. G., Desmyter J., De Wet D. H., Ban Assche F. A. The association of gonorrhoea and syphilis with premature birth and low birthweight. Genitourinary Medicine. 1993;69(2):98–101. doi: 10.1136/sti.69.2.98. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Drillien C. M., Pickering R. M., Drummond M. B. Predictive value of screening for difficult areas of development. Developmental Medicine and Child Neurology. 1988;30:294–305. doi: 10.1111/j.1469-8749.1988.tb14554.x. [DOI] [PubMed] [Google Scholar]
  47. Dunn D., Wallon M., Peyron F., Peterson E., Peckham C., Gilbert R. Motherto-child transmission of toxoplasmosis: Risk estimates for clinical counseling. Lancet. 1999;353(9167):1829–1833. doi: 10.1016/S0140-6736(98)08220-8. [DOI] [PubMed] [Google Scholar]
  48. Durkin M., Schupf N., Susser M., Stein Z. Epidemiology of mental retardation. In: Levene M., Lilford R., Bennet M. J., Punt J., editors. Fetal neurology and neurosurgery. 3rd. London: Churchill Livingstone; 2001. pp. 719–818. [Google Scholar]
  49. Durkin M. S., Olsen S., Barlow B., Virella A., Connolly E. S. The epidemiology of urban, pediatric, neurological trauma: Evaluation of, and implications for, injury prevention programs. Neurosurgery. 1998;42(2):300–310. doi: 10.1097/00006123-199802000-00052. [DOI] [PubMed] [Google Scholar]
  50. Durkin M. S., Schupf N., Stein Z. A., Susser M. W. Mental retardation. In: Wallace R. B., editor. Public health and preventive medicine. Stamford, CT: Appleton & Lange; 1998. pp. 1049–1058. [Google Scholar]
  51. Durkin M. S., Stein Z. A. Classification of mental retardation. In: Jacobson J. W., Mulick J. A., editors. Manual of diagnosis and professional practice in mental retardation. Washington, DC: American Psychological Association; 1996. [Google Scholar]
  52. Dykens E. M., Leckman J. F., Cassify S. B. Obsession and compulsions in Prader–Willi syndrome. Journal of Child Psychiatry. 1996;37(8):995–1002. doi: 10.1111/j.1469-7610.1996.tb01496.x. [DOI] [PubMed] [Google Scholar]
  53. Editorial Board. (1996). Definition of mental retardation. In J. W. Jacobson & J. A. Mulick (Eds.), Manual of diagnosis and professional practice in mental retardation (pp. 13–38). Washington, DC: American Psychological Association.
  54. Emanuelson I., von Wendt L., Lundalv E., Larsson J. Rehabilitation and followup of children with severe traumatic brain injury. Childs Nervous System. 1996;12(8):460–465. doi: 10.1007/BF00261625. [DOI] [PubMed] [Google Scholar]
  55. Epstein C. M. The consequences of chromosome imbalance. Cambridge, UK: Cambridge University Press; 1986. [Google Scholar]
  56. European Mode of Delivery Collaboration Elective caesarean-section versus vaginal delivery in prevention of vertical HIV-1 transmission: A randomized clinical trial. Lancet. 1999;353(9158):1030–1031. doi: 10.1016/s0140-6736(98)08084-2. [DOI] [PubMed] [Google Scholar]
  57. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics. 1993;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  58. Ewing-Cobbs L., Prasad M., Kramer L., Landry S. Inflicted traumatic brain injury: Relationship of developmental outcome to severity of injury. Pediatric Neurosurgery. 1999;31(5):251–258. doi: 10.1159/000028872. [DOI] [PubMed] [Google Scholar]
  59. Fanaroff A. A., Hack M. Periventricular leukomalacia—prospects for prevention. New England Journal of Medicine. 1999;341(16):1229–1231. doi: 10.1056/NEJM199910143411611. [DOI] [PubMed] [Google Scholar]
  60. Faro S., Soper D. E., Feldman E. J. The recognition and investigation of X-linked learning disability syndromes. Journal of Intellectual Disability Research. 2001;40(Pt. 5):400–411. [PubMed] [Google Scholar]
  61. Filley C. K., Kelly J. P. Clinical neurotoxicology and neurobehavioral toxicology. In: Sullivan J. B., Krieger G. R., editors. Clinical environmental health and toxic exposures. Denver, CO: Lippincott, Williams & Wilkins; 2001. [Google Scholar]
  62. Fishkin P. E., Armstrong F. D., Routh D. K., Harris L., Thompson W., Miloslavich K., et al. Brief report: Relationship between HIV infection and WPPSI-R performance in preschool-age children. Journal of Pediatric Psychology. 2000;25(5):347–351. doi: 10.1093/jpepsy/25.5.347. [DOI] [PubMed] [Google Scholar]
  63. Flint J., Wilkie A. O., Buckle V. J., Winter R. M., Holland A. J., McDermid H. E. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genetics. 1995;9(2):132–140. doi: 10.1038/ng0295-132. [DOI] [PubMed] [Google Scholar]
  64. Frangiskakis J. M., Ewart A. K., Morris C. A., Mervis C. B., Bertrand J., Robinson B. F., et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996;86(1):59–69. doi: 10.1016/S0092-8674(00)80077-X. [DOI] [PubMed] [Google Scholar]
  65. Frankenberger W., Harper J. States’ definitions and procedures for identifying children with mental retardation: Comparison of 1981–1982 and 1985–1986 guidelines. Mental Retardation. 1988;26(3):133–136. [PubMed] [Google Scholar]
  66. Freij B. J., Sever J. L. Varicella. In: Queenan J. T., Hobbins J. C., editors. Protocols for high risk pregnancies. 3rd. Cambridge, MA: Blackwell Science; 1997. pp. 387–397. [Google Scholar]
  67. Fu Y. H., Kuhl D. P., Pizzuti A., Pieretti M., Sutcliffe J. S., Richards S., et al. Variation of the CGG repeat at the fragile X site results in genetic stability: Resolution of the Sherman paradox. Cell. 1991;67(6):1047–1058. doi: 10.1016/0092-8674(91)90283-5. [DOI] [PubMed] [Google Scholar]
  68. Garber H. The Milwaukee project: Preventing mental retardation in children at risk. Washington, DC: American Association on Mental Retardation; 1988. [Google Scholar]
  69. Gedeon A. K., Baker E., Robinson H., Partington M. W., Gross B., Manca A., et al. Fragile X syndrome without CGG amplification has an FMR1 deletion. Nature Genetics. 1992;1(5):341–344. doi: 10.1038/ng0892-341. [DOI] [PubMed] [Google Scholar]
  70. Gibbs R. S., Sweet R. L. Maternal and fetal infectious disorders. In: Creasy R K, Rasnik R., editors. Maternal-fetal medicine. 4th. Philadelphia, PA: Saunders; 1999. pp. 685–689. [Google Scholar]
  71. Gilstrap L. C. Infections in pregnancy. 2nd. New York: Wiley; 1997. [Google Scholar]
  72. Goldenberg R. L., Nelson K. G. In: Maternal-fetal medicine. 4th. Creasy R. K., Rasnik R., editors. Philadelphia, PA: Saunders; 1999. pp. 1194–1214. [Google Scholar]
  73. Goldman L. R., Koduru S. Chemicals in the environment and developmental toxicity to children: A public health and policy perspective. Environmental Health Perspectives. 2000;108:443–448. doi: 10.2307/3454535. [DOI] [PMC free article] [PubMed] [Google Scholar]
  74. Gorman K. S., Pollitt E. Does schooling buffer the effects of early risk? Child Development. 1996;67(2):314–326. doi: 10.2307/1131816. [DOI] [PubMed] [Google Scholar]
  75. Guerina N. G., Hsu H.W., Meissner H. C., Maguire J. H., Lynfield R., Stechenburg B., et al. Neonatal serological screening and early treatment for congenital Toxoplasma gondii infection. New England Journal of Medicine. 1994;330(26):1858–1863. doi: 10.1056/NEJM199406303302604. [DOI] [PubMed] [Google Scholar]
  76. Gustavson K. H., Hagberg B., Hagberg G., Sars K. Severe mental retardation in a Swedish county. I. Epidemiology, gestational age, birth weight and associated CNS handicaps in children born 1959–1970. Acta Paediatrica Scandinavica. 1977a;66:373–379. doi: 10.1111/j.1651-2227.1977.tb07910.x. [DOI] [PubMed] [Google Scholar]
  77. Gustavson K. H., Hagberg B., Hagberg G., Sars K. Severe mental retardation in a Swedish county: Etiological and pathogenic aspects of children born 1959–1970. Neuropadiatrie. 1977b;8(3):293–304. doi: 10.1055/s-0028-1091525. [DOI] [PubMed] [Google Scholar]
  78. Hagberg B., Hagberg G. Rett syndrome: Epidemiology and geographical variability. European Child and Adolescent Psychiatry. 1997;6:5–7. [PubMed] [Google Scholar]
  79. Hagerman R. J., Hull C. E., Safanda J. F., Carpenter I., Staley L. W., O’Connor R. A., et al. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. American Journal of Medical Genetics. 1994;51(4):298–308. doi: 10.1002/ajmg.1320510404. [DOI] [PubMed] [Google Scholar]
  80. Hagerman R. J., Jackson C., Amiri K., Silverman A. C., O’Conner R., Sobesky W. Girls with fragile X syndrome physical and neurocognitive status and outcome. Pediatrics. 1992;89(3):395–400. [PubMed] [Google Scholar]
  81. Hagerman R. J., Silverman A. C., editors. Fragile X syndrome, diagnosis, treatment and research. Baltimore: Johns Hopkins University Press; 1991. [Google Scholar]
  82. Hagerman R. J., Wilson P., Staley L. W., Lang K. A., Fan T., Uhlhorn C., et al. Evaluation of school children at high risk for fragile X syndrome utilizing bucal cell FMR- 1 testing. American Journal of Medical Genetics. 1994;51(4):474–481. doi: 10.1002/ajmg.1320510436. [DOI] [PubMed] [Google Scholar]
  83. Hanley W. B., Platt L. D., Bachman R. P., Buist N., Geraghty M. T., Isaacs J., et al. Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding. American Journal of Obstetrics and Gynecology. 1999;180(4):986–994. doi: 10.1016/S0002-9378(99)70671-X. [DOI] [PubMed] [Google Scholar]
  84. Hassold T. J., Burrage L. C., Chan E. R., Judis L. M., Schwartz S., James J., et al. Maternal folate polymorphisms and the etiology of human nondisjunction. American Journal of Human Genetics. 2001;69(2):434–439. doi: 10.1086/321971. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Hassold T., Chiu D., Yamane J. A. Parental origin of autosomal trisomies. Annals of Human Genetics. 1984;48:129–144. doi: 10.1111/j.1469-1809.1984.tb01008.x. [DOI] [PubMed] [Google Scholar]
  86. Hetzel B. S. The story of iodine deficiency: An international challenge in nutrition. Oxford: Oxford University Press; 1989. [Google Scholar]
  87. Hobbs C. A., Sherman S. L., Yi P., Hopkins S. E., Torfs C. P., Hine R. J., et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. American Journal of Human Genetics. 2000;67(3):623–630. doi: 10.1086/303055. [DOI] [PMC free article] [PubMed] [Google Scholar]
  88. Holden J. J., Percy M., Allingham-Hawkins D., Brown W. T., Chiurazzi P., Fisch G., et al. Conference Report: Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16–22, 1997. American Journal of Medical Genetics. 1999;83(4):221–236. doi: 10.1002/(SICI)1096-8628(19990402)83:4<221::AID-AJMG1>3.0.CO;2-K. [DOI] [PubMed] [Google Scholar]
  89. Holland A. J., Hon J., Huppert F. A., Watson P. Population-based study of the prevalence and presentation of dementia in adults with Down syndrome. British Journal of Psychiatry. 1998;172:493–498. doi: 10.1192/bjp.172.6.493. [DOI] [PubMed] [Google Scholar]
  90. Hook E. B. Epidemiology of Down syndrome. In: Pueschel S. M., Rynders J. E., editors. Down syndrome: Advances in biomedicine and the behavioral sciences. Cambridge, MA: Ware; 1982. pp. 11–18. [Google Scholar]
  91. Hook E. B., Cross P. K. Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis: Results of about 63,000 fetuses. Annals of Human Genetics. 1987;51:27–55. doi: 10.1111/j.1469-1809.1987.tb00864.x. [DOI] [PubMed] [Google Scholar]
  92. Iams J. D., Talbert M. L., Barrows H., Sachs L. Management of preterm rupture of the membranes: A prospective randomized comparison of observation versus use of steroids and timed delivery. American Journal of Obstetrics and Gynecology. 1985;151(1):32–38. doi: 10.1016/0002-9378(85)90419-3. [DOI] [PubMed] [Google Scholar]
  93. Jacobs P. A., Bullman H., Macpherson J., Youings S., Rooney V., Watson A., et al. Population studies of fragile X: A molecular approach. Journal of Medical Genetics. 1993;30(6):454–459. doi: 10.1136/jmg.30.6.454. [DOI] [PMC free article] [PubMed] [Google Scholar]
  94. Jacobson J., Jacobson S. Intellectual impairment in children exposed to polychlorinated biphenyls in utero. New England Journal of Medicine. 1996;335(11):783–789. doi: 10.1056/NEJM199609123351104. [DOI] [PubMed] [Google Scholar]
  95. Jacobson J., Jacobson S., Humphrey H. Effects of in utero exposure to polychlorinated biphenyls and related contaminants on cognitive functioning in young children. Journal of Pediatrics. 1990;116(1):38–45. doi: 10.1016/S0022-3476(05)81642-7. [DOI] [PubMed] [Google Scholar]
  96. Jacobson J. W., Mulick J. A. Manual of diagnosis and professional practice in mental retardation. Washington, DC: American Psychological Association; 1996. [Google Scholar]
  97. James S. J., Pogribna M., Pogribny I. P., Melnyk S., Hine R. J., Gibson J. B., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. American Journal of Clinical Nutrition. 1999;70(4):495–501. doi: 10.1093/ajcn/70.4.495. [DOI] [PubMed] [Google Scholar]
  98. Jiang Y.-H., Tsai T.-F., Bressler J., Beaudet A. L. Imprinting in Angelman and Prader–Willi syndromes. Current Opinion in Genetics and Development. 1998;8(3):334–342. doi: 10.1016/S0959-437X(98)80091-9. [DOI] [PubMed] [Google Scholar]
  99. Johnson P. M. Immunology of pregnancy. In: Chamberlain G., editor. Turnbull’s obstetrics. 2nd. Edinburgh, UK: Churchill Livingstone; 1995. pp. 143–159. [Google Scholar]
  100. Jones K. L. Effects of therapeutic, diagnostic and environmental agents. In: Creasy R. K., Rasnik R., editors. Maternal-fetal medicine. 4th. Philadelphia, PA: Saunders; 1999. pp. 132–144. [Google Scholar]
  101. Keogh J. P., Boyer L. V. Lead. In: Sullivan J. B., Krieger G. R., editors. Clinical environmental health and toxic exposures. Baltimore: Lippincott Williams & Wilkins; 2001. pp. 879–889. [Google Scholar]
  102. Kerr A. M., Ravine D. Review article: Breaking new ground with Rett syndrome. Journal of Intellectual Disability Research. 2003;47(8):580–587. doi: 10.1046/j.1365-2788.2003.00506.x. [DOI] [PubMed] [Google Scholar]
  103. Kiely M. The prevalence of mental retardation. Epidemiologic Reviews. 1987;9:194–218. doi: 10.1093/oxfordjournals.epirev.a036302. [DOI] [PubMed] [Google Scholar]
  104. Kline J., Stein Z., Susser M. Conception to birth: Epidemiology of prenatal development. New York: Oxford University Press; 1989. [Google Scholar]
  105. Knight S. J., Regan R., Nicod A., Horsely S. W., Kearney L., Homfray T., et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet. 1999;354(9191):1676–1681. doi: 10.1016/S0140-6736(99)03070-6. [DOI] [PubMed] [Google Scholar]
  106. Knoll J. H., Nicholls R. D., Magenis R. E., Graham J. M., Jr., Lalande M., Latt S. A. Angelman and Prader–Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics. 1989;32(2):285–290. doi: 10.1002/ajmg.1320320235. [DOI] [PubMed] [Google Scholar]
  107. Konarski E. A., Sutton K., Huffman A. Personal characteristics associated with episodes of injury in a residential facility. American Journal of Mental Retardation. 1997;102(1):37–44. doi: 10.1352/0895-8017(1997)102<0037:PCAWEO>2.0.CO;2. [DOI] [PubMed] [Google Scholar]
  108. Kraus J. F., Fife D., Cox P., Ramstein K., Conroy C. Incidence, severity, and external causes of pediatric brain injury. American Journal of Diseases of Children. 1986;140(7):687–693. doi: 10.1001/archpedi.1986.02140210085032. [DOI] [PubMed] [Google Scholar]
  109. Kremer E. J., Pritchard M., Lynch M., Yu S., Holman K., Baker E., et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science. 1991;252(5013):1711–1714. doi: 10.1126/science.1675488. [DOI] [PubMed] [Google Scholar]
  110. Lai F., Kammann E., Rebeck G. W., Anderson A., Chen Y., Nixon R. A. APOE genotype and gender effects on Alzheimer disease in 100 adults with Down syndrome. Neurology. 1999;53(2):331–336. doi: 10.1212/wnl.53.2.331. [DOI] [PubMed] [Google Scholar]
  111. Landrigan P. J. Pesticides and polychlorinated biphenyls (PCBs): An analysis of the evidence that they impair children’s neurobehavioral development. Molecular Genetics and Metabolism. 2001;73(1):11–17. doi: 10.1006/mgme.2001.3177. [DOI] [PubMed] [Google Scholar]
  112. Larson S. A., Lakin K. C., Anderson L., Kwak N., Lee M., Anderson D. Prevalence of mental retardation and developmental disabilities: Estimates from the 1994/1995 National Health Interview Survey Disability Supplements. American Journal of Mental Retardation. 2001;106(3):231–252. doi: 10.1352/0895-8017(2001)106<0231:POMRAD>2.0.CO;2. [DOI] [PubMed] [Google Scholar]
  113. Lazar I., Darlington R. Lasting effects of early education: A report from the consortium for longitudinal studies. Monographs of the Society for Research in Child Development. 1982;47(2–3):1–151. [Google Scholar]
  114. Lebech M., Andersen O., Christensen N. C., Hertel J., Nielsen H. E., Peitersen B., et al. Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Danish Congenital Toxoplasmosis Study Group. Lancet. 1999;353(9167):1834–1837. doi: 10.1016/S0140-6736(98)11281-3. [DOI] [PubMed] [Google Scholar]
  115. Ledbetter D., Riccardi V., Airhart S., Strobel R., Keenean B., Crawford J. Deletions of chromosome 15 as a cause of the Prader–Willi syndrome. New England Journal of Medicine. 1981;304(6):325–329. doi: 10.1056/NEJM198102053040604. [DOI] [PubMed] [Google Scholar]
  116. Lenke R. R., Levy H. L. Maternal phenylketonuria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated pregnancies. New England Journal of Medicine. 1980;303(21):1202–1208. doi: 10.1056/NEJM198011203032104. [DOI] [PubMed] [Google Scholar]
  117. Leviton A., Gilles F. Ventriculomegaly, delayed myelination, white matter hypoplasia, and “periventricular” leukomalacia: how are they related? Pediatric Neurology. 1996;15(2):127–136. doi: 10.1016/0887-8994(96)00157-9. [DOI] [PubMed] [Google Scholar]
  118. Leviton A., Paneth N. White matter damage in preterm newborns—an epidemiologic perspective. Early Human Development. 1990;24(1):1–22. doi: 10.1016/0378-3782(90)90002-Z. [DOI] [PubMed] [Google Scholar]
  119. Levy H. L., Ghavami M. Maternal phenylketonuria: A metabolic teratogen. Teratology. 1996;53(3):176–184. doi: 10.1002/(SICI)1096-9926(199603)53:3<176::AID-TERA5>3.0.CO;2-2. [DOI] [PubMed] [Google Scholar]
  120. Levy H. L., Waisbren S. E. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. New England Journal of Medicine. 1983;309(21):1269–1274. doi: 10.1056/NEJM198311243092101. [DOI] [PubMed] [Google Scholar]
  121. Lewis M., Goldberg S. Perceptual-cognitive development in infancy: A generalized expectancy model as a function of mother–infant interaction. Merrill-Palmer Quarterly. 1969;15:81–100. [Google Scholar]
  122. Liu H., Momotani N., Yoshimura J. Maternal hypothyroidism during early pregnancy and intellectual development of the progeny. Archives of Internal Medicine. 1994;154(7):785–787. doi: 10.1001/archinte.154.7.785. [DOI] [PubMed] [Google Scholar]
  123. Longnecker M. P., Rogan W. J., Lucier G. The human effects of DDT and PCBs and an overview of organochlorines in public health. Annual Review of Public Health. 1997;18:211–244. doi: 10.1146/annurev.publhealth.18.1.211. [DOI] [PubMed] [Google Scholar]
  124. Lubs H. A. A marker-X chromosome. American Journal of Human Genetics. 1969;21(3):231–244. [PMC free article] [PubMed] [Google Scholar]
  125. Luis C. A., Mittenberg W. Mood and anxiety disorders following pediatric traumatic brain injury: A prospective study. Journal of Clinical and Experimental Neuropsychology. 2002;24(3):270–279. doi: 10.1076/jcen.24.3.270.982. [DOI] [PubMed] [Google Scholar]
  126. Macmillan C., Magder L. S., Brouwers P., Chase C., Hittelman J., Lasky T., et al. Head growth and neurodevelopment of infants born to HIV-1 infected drug-using women. Neurology. 2001;57(8):1402–1411. doi: 10.1212/wnl.57.8.1402. [DOI] [PubMed] [Google Scholar]
  127. Martin D., Schoub B. Rubella infection in pregnancy. In: Newell M. L., McIntyre J., editors. Congenital and perinatal infections: Prevention, diagnosis and treatment. Cambridge, UK: Cambridge University Press; 2000. [Google Scholar]
  128. Martin G. M. Genetic syndromes in man with potential relevance to pathobiology of aging. Birth Defects Original Articles Series. 1978;14(1):5–39. [PubMed] [Google Scholar]
  129. Massey P. S., McDermott S. State-specific rates of mental retardation-United States, 1993. Morbidity and Mortality Weekly Report. 1995;45:61–65. [PubMed] [Google Scholar]
  130. Matsuura T., Sutcliffe J. S., Fang P., Galjaard R. J., Jiang Y. H., Benton C. S., et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics. 1997;15(1):74–77. doi: 10.1038/ng0197-74. [DOI] [PubMed] [Google Scholar]
  131. McDermott S. Explanatory model to describe school district prevalence rates for mental retardation and learning disabilities. American Journal of Mental Retardation. 1994;99(2):175–185. [PubMed] [Google Scholar]
  132. McDermott S., Callaghan W., Szwejbka L., Mann H., Daguise V. Urinary tract infections during pregnancy and mental retardation and developmental delay. Obstetrics and Gynecology. 2000;96(1):113–119. doi: 10.1016/S0029-7844(00)00823-1. [DOI] [PubMed] [Google Scholar]
  133. McDermott S., Daguise V., Mann H., Szwejbka L., Callaghan W. Perinatal risk for mortality and mental retardation associated with maternal urinary-tract infections. Journal of Family Practice. 2001;50(5):433–437. [PubMed] [Google Scholar]
  134. McGuigan M. A., Bailey B. In: Clinical environmental health and toxic exposures. Sullivan J. B., Krieger G. R., editors. Baltimore: Lippincott Williams & Wilkins; 2001. pp. 289–299. [Google Scholar]
  135. McLaren J., Bryson S. E. Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. American Journal of Mental Retardation. 1987;92(3):243–254. [PubMed] [Google Scholar]
  136. Meadows K. L., Pettay D., Newman J., Hersey J., Ashley A. E., Sherman S. L. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. American Journal of Medical Genetics. 1996;64(2):428–433. doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F. [DOI] [PubMed] [Google Scholar]
  137. Melyn M. A., White D. T. Mental and developmental milestones of noninstitutionalized Down’s syndrome children. Pediatrics. 1973;52(4):542–545. [PubMed] [Google Scholar]
  138. Mialky E., Vagnoni J., Rutstein R. School-age children with perinatally acquired HIV infection: Medical and psychosocial issues in a Philadelphia cohort. AIDS Patient Care and STDS. 2001;15(11):575–579. doi: 10.1089/108729101753287667. [DOI] [PubMed] [Google Scholar]
  139. Morgan-Capner P. Rubella. In: Jeffries D. J., Hudson C. N., editors. Viral Infections in obstetrics and gynaecology. London: Arnold; 1999. [Google Scholar]
  140. Morton J. E., Bundey S., Webb T. P., Macdonald F., Rindl P. M., Bullock S. Fragile X syndrome is less common than previously estimated. Journal of Medical Genetics. 1997;34(1):1–5. doi: 10.1136/jmg.34.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  141. Mowery-Rushton P. A., Driscoll D. J., Nicholls R. D., Locker J., Surti U. DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader–Willi region. Human Molecular Genetics. 1996;61(2):140–146. doi: 10.1002/(SICI)1096-8628(19960111)61:2<140::AID-AJMG7>3.0.CO;2-0. [DOI] [PubMed] [Google Scholar]
  142. MRC Vitamin Study Group Prevention of neural tube defects: Results of the Medical Research Council vitamin study. Lancet. 1991;338(8760):131–137. [PubMed] [Google Scholar]
  143. Murray A., Youings S., Dennis N., Latsky L., Linehan P., McKechnie N., et al. Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. American Journal of Medical Genetics. 1996;5(6):727–735. doi: 10.1093/hmg/5.6.727. [DOI] [PubMed] [Google Scholar]
  144. National Center for Health Statistics. (2000). National Health Interview Survey. Retrieved December 3, 2002, from National Center for Health Statistics, National Health Interview Survey (NHIS) Web site: http://www.cdc.gov/nchs/nhis.htm
  145. Nicholls R. D. Genomic imprinting and candidate genes in the Prader–Willi and Angelman syndromes. Current Genetic Developments. 1993;3(3):445–456. doi: 10.1016/0959-437X(93)90119-A. [DOI] [PubMed] [Google Scholar]
  146. Nicholson A., Alberman E. Prediction of the number of Down’s syndrome infants to be born in England and Wales up to the year 2000 and their likely survival rates. Journal of Intellectual Disability Research. 1992;36:505–517. doi: 10.1111/j.1365-2788.1992.tb00569.x. [DOI] [PubMed] [Google Scholar]
  147. Nolin S. L., Glicksman A., Houck G., Brown W. T., Dobkin C. S. Mosaicism in fragile X affected males. American Journal of Medical Genetics. 1994;51(4):509–512. doi: 10.1002/ajmg.1320510444. [DOI] [PubMed] [Google Scholar]
  148. Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science. 1991;252(5010):1097–1102. doi: 10.1126/science.252.5009.1097. [DOI] [PubMed] [Google Scholar]
  149. O’Donnell K. J., Rakeman M. A., Zhi-Hong D., Xue-Yi C., Mei Z. Y., DeLong N., et al. Effects of iodine supplementation during pregnancy on child growth and development at school age. Developmental Medicine and Child Neurology. 2002;44(2):76–81. doi: 10.1017/S0012162201001712. [DOI] [PubMed] [Google Scholar]
  150. O’Leary V. B., Parle-McDermott A., Molloy A. M., Kirke P. N., Johnson Z., Conley M., et al. MTRR and MTHFR polymorphism: Link to Down syndrome? American Journal of Medical Genetics. 2002;107(2):151–155. doi: 10.1002/ajmg.10121. [DOI] [PubMed] [Google Scholar]
  151. Oliver C., Holland A. J. Down syndrome and Alzheimer’s disease: A review. Psychological Medicine. 1986;16(2):307–322. doi: 10.1017/S0033291700009120. [DOI] [PubMed] [Google Scholar]
  152. Opitz J. M., Sutherland G. R. Conference report: International Workshop on the fragile X and X-linked mental retardation. American Journal of Medical Genetics. 1984;17(1):5–94. doi: 10.1002/ajmg.1320170103. [DOI] [PubMed] [Google Scholar]
  153. Osborne L. R., Martindale D., Scherer S. W., Shi X. M., Huizenga J., Heng H. H., et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams-syndrome patients. Genomics. 1996;36:328–336. doi: 10.1006/geno.1996.0469. [DOI] [PubMed] [Google Scholar]
  154. O’Shea T. M., Dammann O. Antecedents of cerebral palsy in very low birth weight infants. Clinics in Perinatology. 2000;27(2):285–302. doi: 10.1016/S0095-5108(05)70022-1. [DOI] [PubMed] [Google Scholar]
  155. Ozcelik T., Leff S., Robinson W., Donlon T., Lalande M., Sanjines E., et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region. Nature Genetics. 1992;9:395–400. doi: 10.1038/ng1292-265. [DOI] [PubMed] [Google Scholar]
  156. Ozduman K., Pober B. R., Barnes P., Copel J. A., Ogle E. A., Duncan C. C., et al. Fetal stroke. Pediatric Neurology. 2004;30:151–162. doi: 10.1016/j.pediatrneurol.2003.08.004. [DOI] [PubMed] [Google Scholar]
  157. Paryani S. G., Arvin A. M. Intrauterine infection with varicella-zoster virus after maternal varicella. New England Journal of Medicine. 1986;314(24):1542–1546. doi: 10.1056/NEJM198606123142403. [DOI] [PubMed] [Google Scholar]
  158. Peckham C. Cytomegalovirus infection, congenital and neonatal disease. Scandinavian Journal of Infectious Diseases. 1991;80:82–87. [PubMed] [Google Scholar]
  159. Peoples R., Perez-Jurado L., Wang Y.-K., Kaplan P., Francke U. The gene for replication factor C subunit (RFC2) is within the 7q11.23 Williams syndrome deletion. American Journal of Human Genetics. 1996;58(6):1370–1373. [PMC free article] [PubMed] [Google Scholar]
  160. Perez-Jurado L. A., Peoples R., Kaplan P., Hamel B. C. J., Francke U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. American Journal of Human Genetics. 1996;59(4):781–792. [PMC free article] [PubMed] [Google Scholar]
  161. Pieretti M., Zhang F. P., Fu Y. H., Warren S. T., Oostra B. A., Caskey C. T., et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66:817–822. doi: 10.1016/0092-8674(91)90125-I. [DOI] [PubMed] [Google Scholar]
  162. Popp S., Schulze B., Granzow M., Keller M., Holtgreve-Grez H., Schoell B., et al. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (MTEL) integrity assay. Human Genetics. 2002;111(1):31–39. doi: 10.1007/s00439-002-0739-x. [DOI] [PubMed] [Google Scholar]
  163. Preblud S., Cochi S., Orenstein W. Varicella-zoster infection in pregnancy. New England Journal of Medicine. 1986;315(22):1415–1417. doi: 10.1056/NEJM198611273152212. [DOI] [PubMed] [Google Scholar]
  164. Rabinowitz M., Leviton A., Needleman H. Lead in Milk and Infant Blood: A doseresponse model. Archives of Environmental Health. 1985;40(5):283–286. doi: 10.1080/00039896.1985.10545933. [DOI] [PubMed] [Google Scholar]
  165. Ramey C. T., Ramey S. L. Prevention of intellectual disabilities: Early interventions to improve cognitive development. Preventive Medicine. 1998;27(2):224–232. doi: 10.1006/pmed.1998.0279. [DOI] [PubMed] [Google Scholar]
  166. Reiss A. L., Abrams M. T., Greenlaw R., Freund L., Denckla M. B. Neurodevelopmental effects of the FMR-1 full mutation in humans. Nature Medicine. 1995;1(2):159–167. doi: 10.1038/nm0295-159. [DOI] [PubMed] [Google Scholar]
  167. Reiss A. L., Aylward E., Freund L. S., Joshi P. K., Bryan R. N. Neuroanatomy of fragile X syndrome: The posterior fossa. Annals of Neurology. 1991;29:26–32. doi: 10.1002/ana.410290107. [DOI] [PubMed] [Google Scholar]
  168. Reiss A. L., Freund L. Fragile X syndrome, DSM-III-R and autism. Journal of the American Academy of Child and Adolescent Psychiatry. 1990;29(6):885–891. doi: 10.1097/00004583-199011000-00007. [DOI] [PubMed] [Google Scholar]
  169. Reiss A. L., Lee J., Freund L. Neuroanatomy of fragile X syndrome: The temporal lobe. Neurology. 1994;44(7):1317–1324. doi: 10.1212/wnl.44.7.1317. [DOI] [PubMed] [Google Scholar]
  170. Remington J. S., McLeod R., Desmonts G. Toxoplasmosis. In: Remington J. S., Klein J. O., editors. Infectious diseases of the fetus and newborn infant. 4th. Philadelphia: WB Saunders; 1995. pp. 140–267. [Google Scholar]
  171. Ribas-Fito N., Sala M., Kogevinas M., Sunyer J. Polychlorinated biphenyls (PCBs) and neurological development in children: A systematic review. Journal of Epidemiology and Community Health. 2001;55(8):537–546. doi: 10.1136/jech.55.8.537. [DOI] [PMC free article] [PubMed] [Google Scholar]
  172. Roizen N., Swisher C. N., Stein M. A. Neurologic and developmental outcome in treated congenital toxoplasmosis. Pediatrics. 1995;95:11–20. [PubMed] [Google Scholar]
  173. Romero R., Sibai B., Caritis S., Paul R., Depp R., Rosen M., et al. Antibiotic treatment of preterm labor with intact membranes: A multicenter, randomized, doubleblinded, placebo-controlled trial. American Journal of Obstetrics and Gynecology. 1993;169(4):764–774. doi: 10.1016/0002-9378(93)90003-2. [DOI] [PubMed] [Google Scholar]
  174. Romero R., Yoon B. H., Mazor M., Gomez R., Diamond M. P., Kenney J. S., et al. The diagnostic and prognostic value of amniotic fluid white blood cell count, glucose, interleukin-6, and Gram-stain in patients with preterm labor and intact membranes. American Journal of Obstetrics and Gynecology. 1993;169(4):805–816. doi: 10.1016/0002-9378(93)90009-8. [DOI] [PubMed] [Google Scholar]
  175. Rouse B., Azen C., Koch R., Matalon R., Hanley W., de la Cruz F., et al. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae. American Journal of Medical Genetics. 1997;69(1):89–95. doi: 10.1002/(SICI)1096-8628(19970303)69:1&#x0003c;89::AID-AJMG17&#x0003e;3.0.CO;2-K. [DOI] [PubMed] [Google Scholar]
  176. Rousseau F., Heitz D., Tarleton J., MacPherson J., Malmgren H., Dahl N., et al. A multicenter study on genotype-phenotype correlation in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2253 cases. American Journal of Human Genetics. 1994;55(2):225–237. [PMC free article] [PubMed] [Google Scholar]
  177. Rousseau F., Rouillard P., Morel M. L., Khandjian E. W., Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome. American Journal of Human Genetics. 1995;57(5):1006–1018. [PMC free article] [PubMed] [Google Scholar]
  178. Rumble B., Retallack R., Hilbich C., Simms G., Multhaup G., Martins R., et al. Amyloid A4 protein and its precursor in Down’s syndrome and Alzheimer’s disease. New England Journal of Medicine. 1989;320(22):1446–1452. doi: 10.1056/NEJM198906013202203. [DOI] [PubMed] [Google Scholar]
  179. Rynders J. E., Spiker D., Horrobin J. M. Underestimating the educability of Down’s syndrome children: Examination of methodological problems in recent literature. American Journal of Mental Deficiency. 1978;82(5):440–448. [PubMed] [Google Scholar]
  180. Sampson P. D., Streissguth A. P., Bookstein F. L., Barr H. M. On categorization in analyses of alcohol teratogenisis. Environmental Health Perspectives. 2000;108:421–428. doi: 10.2307/3454531. [DOI] [PMC free article] [PubMed] [Google Scholar]
  181. Sare Z., Ruvalcaba R. H., Kelly V. C. Prevalence of thyroid disorder in Down syndrome. Clinical Genetics. 1978;14(3):154–158. doi: 10.1111/j.1399-0004.1978.tb02121.x. [DOI] [PubMed] [Google Scholar]
  182. Schell J. D., Jr., Budinsky R. A., Wernke M. J. PCBs and neurodevelopmental effects in Michigan children: An evaluation of exposure and dose characterization. Regulatory Toxicology and Pharmacology. 2001;33:300–312. doi: 10.1006/rtph.2001.1475. [DOI] [PubMed] [Google Scholar]
  183. Schupf N., Sergievsky G. H. Genetic and host factors for dementia in Down syndrome. British Journal of Psychiatry. 2002;180:405–410. doi: 10.1192/bjp.180.5.405. [DOI] [PubMed] [Google Scholar]
  184. Sharav T., Shlomo L. Stimulation of infants with Down syndrome: Long-term effects. Mental Retardation. 1986;24(2):81–86. [PubMed] [Google Scholar]
  185. Sherman S. L., Jacobs P. A., Morton N. E., Froster-Iskenius U., Howard-Peebles P. N., Nielsen K. B., et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Human Genetics. 1985;69(4):289–299. doi: 10.1007/BF00291644. [DOI] [PubMed] [Google Scholar]
  186. Sherman S. L., Morton N. E., Jacobs P. A., Turner G. The marker X syndrome: A cytogenetic and genetic analysis. Annals of Human Genetics. 1984;48:21–37. doi: 10.1111/j.1469-1809.1984.tb00830.x. [DOI] [PubMed] [Google Scholar]
  187. Sherman S. L., Takaesu N., Freeman S. B., Grantham M., Phillips C., Blackston R. D., et al. Trisomy 21: Association between reduced recombination and nondisjunction. American Journal of Human Genetics. 1991;49(3):608–620. [PMC free article] [PubMed] [Google Scholar]
  188. Sherrard J., Tonge B. J., Ozanne-Smith J. Injury risk in young people with intellectual disability. Journal of Intellectual Disability Research. 2002;46:6–16. doi: 10.1046/j.1365-2788.2002.00346.x. [DOI] [PubMed] [Google Scholar]
  189. Simeonsson R. J., Sharp M. C. Developmental delays. In: Hockelman R. A., Friedman S. B., Nelson N. M., Seidel H. M., editors. Primary pediatric care. 2nd. St. Louis, MO: Mosby-Year Book; 1992. pp. 867–870. [Google Scholar]
  190. Smith R., Malee K., Charurat M., Magder L., Mellins C., Macmillan C., et al. Timing of perinatal human immunodeficiency virus type 1 infection and rate of neurodevelopment. The Women and Infant Transmission Study Group. Pediatric Infectious Disease Journal. 2000;19(9):862–871. doi: 10.1097/00006454-200009000-00010. [DOI] [PubMed] [Google Scholar]
  191. Smits A., Smeets D., Dreesen J., Hamel B., de Haan A., van Oost B. Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers. American Journal of Medical Genetics. 1992;43(1–2):261–267. doi: 10.1002/ajmg.1320430141. [DOI] [PubMed] [Google Scholar]
  192. Spence W. C., Black S. H., Fallon L., Maddalena A., Cummings E., Menapace-Drew G., et al. Molecular fragile X screening in normal populations. American Journal of Medical Genetics. 1996;64(1):181–183. doi: 10.1002/(SICI)1096-8628(19960712)64:1&#x0003c;181::AID-AJMG31&#x0003e;3.0.CO;2-H. [DOI] [PubMed] [Google Scholar]
  193. Staples A. J., Sutherland G., Haan E. A., Clisby S. Epidemiology of Down syndrome in South Australia, 1960–1989. American Journal of Human Genetics. 1991;49(5):1014–1024. [PMC free article] [PubMed] [Google Scholar]
  194. Stein Z. A., Susser M. W., Saenger G. Mental retardation in a national population of young men in The Netherlands: 2. Prevalence of mild mental retardation. American Journal of Epidemiology. 1976;104(2):159–169. doi: 10.1093/oxfordjournals.aje.a112286. [DOI] [PubMed] [Google Scholar]
  195. Stein Z. A., Susser M. W., Saenger G., Marolla F. Mental retardation in a national population of young men in The Netherlands: 1. Prevalence of severe mental retardation. American Journal of Epidemiology. 1976;103(5):477–489. doi: 10.1093/oxfordjournals.aje.a112249. [DOI] [PubMed] [Google Scholar]
  196. Stevenson R. Mental retardation: Overview and historical perspective. Proceedings of the Greenwood Genetic Center. 1996;15:9–18. [Google Scholar]
  197. Stewart G. D., Hassold T. J., Berg A., Watkins P., Tanzi R., Kurnit D. M. Trisomy 21 (Down syndrome): Studying nondisjunction and meiotic recombination by using cytogenetic and molecular polymorphisms that span chromosome 21. American Journal of Human Genetics. 1988;42(2):227–236. [PMC free article] [PubMed] [Google Scholar]
  198. Sutcliffe J. S., Nakao M., Christian S., Orstavik K. H., Tommerup N., Ledbetter D. H., et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 1994;8(1):52–58. doi: 10.1038/ng0994-52. [DOI] [PubMed] [Google Scholar]
  199. Sullivan J. B., Krieger G. R. Clinical environmental health exposures. 2nd. Philadelphia: Lippincott Williams & Wilkins; 2001. [Google Scholar]
  200. Sutcliffe J. S., Nelson D. L., Zhang F., Pieretti M., Caskey C. T., Saxe D., et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Human Molecular Genetics. 1992;1(6):397–400. doi: 10.1093/hmg/1.6.397. [DOI] [PubMed] [Google Scholar]
  201. Sutherland G. R. Fragile sites on human chromosomes. Demonstration of their dependence on the type of tissue culture medium. Science. 1977;197(4300):265–266. doi: 10.1126/science.877551. [DOI] [PubMed] [Google Scholar]
  202. Teplin S. W., Burchinal M., Johnson-Martin N., Humphry R. A., Kraybill E. N. Neurodevelopmental, health, and growth status at age 6 years of children with birth weights less than 1001 grams. Journal of Pediatrics. 1991;118(5):768–777. doi: 10.1016/S0022-3476(05)80045-9. [DOI] [PubMed] [Google Scholar]
  203. Thurman D., Alverson C., Dunn K., Guerrero J., Sniezek J. Traumatic brain injury in the United States: A public health perspective. Journal of Head Trauma and Rehabilitation. 1999;14(6):602–615. doi: 10.1097/00001199-199912000-00009. [DOI] [PubMed] [Google Scholar]
  204. Thurman D., Guerrero J. Trends in hospitalization associated with traumatic brain injury. JAMA. 1999;282(10):954–957. doi: 10.1001/jama.282.10.954. [DOI] [PubMed] [Google Scholar]
  205. Tomlin P., Clarke M., Robinson G., Roach J. Rehabilitation in severe head injury in children: Outcome and provision of care. Developmental Medicine and Child Neurology. 2002;44(12):828–837. doi: 10.1017/S0012162201003000. [DOI] [PubMed] [Google Scholar]
  206. Tong S. Lead exposure and cognitive development: Persistence and a dynamic pattern. Journal of Paediatrics and Child Health. 1998;34(2):114–118. doi: 10.1046/j.1440-1754.1998.00187.x. [DOI] [PubMed] [Google Scholar]
  207. Turner G., Webb T., Wake S., Robinson H. Prevalence of fragile X syndrome. American Journal of Medical Genetics. 1996;64(1):196–197. doi: 10.1002/(SICI)1096-8628(19960712)64:1&#x0003c;196::AID-AJMG35&#x0003e;3.0.CO;2-G. [DOI] [PubMed] [Google Scholar]
  208. U.S. Department of Health and Human Services. (2000). Healthy People 2010: Understanding and improving health and objectives for improving health (2nd ed., 2 Vols). Washington, DC: U.S. Government Printing Office.
  209. van den Ouweland A. M., de Vries B. B., Bakker P. L., Deelen W. H., de Graaff E., van Hemel J. O., et al. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. American Journal of Medical Genetics. 1994;51(4):482–485. doi: 10.1002/ajmg.1320510437. [DOI] [PubMed] [Google Scholar]
  210. van Karnebeek C. D., Koevoets C., Sluijter S., Bijlsma E. K., Smeets D. F., Redeker E. J., et al. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience. Journal of Medical Genetics. 2002;39(8):546–553. doi: 10.1136/jmg.39.8.546. [DOI] [PMC free article] [PubMed] [Google Scholar]
  211. Verheij C., Bakker C. E., de Graaff E., Keulemans J., Willemsen R., Verkerk A. J., et al. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature. 1993;363(6431):722–724. doi: 10.1038/363722a0. [DOI] [PubMed] [Google Scholar]
  212. Verkerk A. J., Pieretti M., Sutcliffe J. S., Fu Y. H., Kuhl D. P., Pizzuti A., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell. 1991;65(5):905–914. doi: 10.1016/0092-8674(91)90397-H. [DOI] [PubMed] [Google Scholar]
  213. Vernon M. Variability in reading retardation. British Journal of Psychology. 1979;70(1):7–16. doi: 10.1111/j.2044-8295.1979.tb02135.x. [DOI] [PubMed] [Google Scholar]
  214. Vincent A., Heitz D., Petit C., Krietz C., Oberle I., Mandel J. L. Abnormal pattern detected in fragile X patients by pulsed field gel electrophoreses. Nature. 1991;349(6310):624–626. doi: 10.1038/349624a0. [DOI] [PubMed] [Google Scholar]
  215. Visser F. E., Aldenkamp A. P., van Huffelen A. C., Kuilman M., Overweg J., van Wijk J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. American Journal of Mental Retardation. 1997;101(4):400–412. [PubMed] [Google Scholar]
  216. Wagstaff J., Knoll J. H., Glatt K. H., Shugart Y. Y., Somer A., Lalande M. Maternal but not paternal transmission of 15q11-q13 linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genetics. 1992;1(4):291–294. doi: 10.1038/ng0792-291. [DOI] [PubMed] [Google Scholar]
  217. Waisbren S. E., Chang P., Levy H. L., Shifrin H., Allred E., Azen C., et al. Neonatal neurological assessment of offspring in maternal phenylketonuria. Journal of Inherited Metabolic Diseases. 1998;21(1):39–48. doi: 10.1023/A:1005359313883. [DOI] [PubMed] [Google Scholar]
  218. Waisbren S. E., Doherty L. B., Bailey I. V., Rohr F. J., Levy H. L. The New England Maternal PKU Project: Identification of at-risk women. American Journal of Public Health. 1988;78(7):789–792. doi: 10.2105/ajph.78.7.789. [DOI] [PMC free article] [PubMed] [Google Scholar]
  219. Walkowiak J., Wiener J. A., Fastabend A., Heinzow B., Kramer U., Schmidt E., et al. Environmental exposure to polychlorinated biphenyls and quality of the home environment: Effects on psychodevelopment in early childhood. Lancet. 2001;358(9293):1602–1607. doi: 10.1016/S0140-6736(01)06654-5. [DOI] [PubMed] [Google Scholar]
  220. Warburton D. Outcome of case of de novo structural rearrangements diagnosed at amniocentesis. Prenatal Diagnosis. 1984;4:69–80. doi: 10.1002/pd.1970040706. [DOI] [PubMed] [Google Scholar]
  221. Warburton D. De novo structural rearrangements at amniocentesis: Outcome and nonrandom position of breakpoints. American Journal of Human Genetics. 1987;41:A145. [Google Scholar]
  222. Warburton D. De novo balanced rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. American Journal of Human Genetics. 1991;49(5):995–1013. [PMC free article] [PubMed] [Google Scholar]
  223. Wasserman G. A., Graziano J. H., Factor-Litvak P., Popovac D., Morina N., Musabegovic A., et al. Consequences of lead exposure and iron supplementation on childhood development at age 4 years. Neurotoxicology and Teratology. 1994;16(3):233–240. doi: 10.1016/0892-0362(94)90044-2. [DOI] [PubMed] [Google Scholar]
  224. Wasserman G. A., Liu X., Lolacono N. J., Factor-Litvak P., Kline J. K., Popovac D., et al. Lead exposure and intelligence in 7-year-old children: The Yugoslavia prospective study. Environmental Health Perspectives. 1997;105(9):956–962. doi: 10.2307/3433876. [DOI] [PMC free article] [PubMed] [Google Scholar]
  225. Wasserstrum N., Anania C. A. Perinatal consequences of maternal hypothyroidism in early pregnancy and inadequate replacement. Clinical Endocrinology. 1995;42(4):353–358. doi: 10.1111/j.1365-2265.1995.tb02642.x. [DOI] [PubMed] [Google Scholar]
  226. Webb T., Whittington J., Clarke D., Boer H., Butler J., Holland A. A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS. Clinical Genetics. 2002;62(4):273–281. doi: 10.1034/j.1399-0004.2002.620404.x. [DOI] [PubMed] [Google Scholar]
  227. Wenger J. D., Hightower A. W., Facklam R. R., Gaventa S., Broome C. V. Bacterial meningitis in the United States, 1986: Report of a multistate surveillance study. Journal of Infectious Diseases. 1990;162(6):1316–1323. doi: 10.1093/infdis/162.6.1316. [DOI] [PubMed] [Google Scholar]
  228. Wevrick R., Kerns J. A., Francke U. Identification of a novel paternally expressed gene in the Prader–Willi syndrome region. Nature Genetics. 1994;3(10):1877–1882. doi: 10.1093/hmg/3.10.1877. [DOI] [PubMed] [Google Scholar]
  229. Whitaker A. H., Feldman J. F., VanRossem R., Schonfeld I. S., Pinto-Martin J. A., Torre C., et al. Neonatal cranial ultrasound abnormalities in low birth weight infants: Relation to cognitive outcomes at six years of age. Pediatrics. 1996;98:719–729. [PubMed] [Google Scholar]
  230. Wild J., Read A. P., Sheppard S., Seller M. J., Smithells R. W., Nevin N. C., et al. Recurrent neural tube defects, risk factors and vitamins. Archives of Disease in Childhood. 1986;61(5):440–444. doi: 10.1136/adc.61.5.440. [DOI] [PMC free article] [PubMed] [Google Scholar]
  231. Williams J. C., Barratt-Boyes B. G., Lowe J. B. Supravalvular aortic stenosis. Circulation. 1961;24:1311–1318. doi: 10.1161/01.cir.24.6.1311. [DOI] [PubMed] [Google Scholar]
  232. Winneke G., Walkowiak J., Lilienthal H. PCB-induced neurodevelopmental toxicity in human infants and its potential mediation by endocrine dysfunction. Toxicology. 2002;181–182:161–165. doi: 10.1016/S0300-483X(02)00274-3. [DOI] [PubMed] [Google Scholar]
  233. Wisniewski H. M., Wegiel J., Popovitch E. Age-associated development of diffuse and thioflavin-S-positive plaques in Down syndrome. Developmental Brain Dysfunction. 1994;7:330–339. [Google Scholar]
  234. Wisniewski K. E., Wisniewski H. M., Wen G. Y. Occurrence of neuropathological changes and dementia of Alzheimer’s disease in Down’s syndrome. Annals of Neurology. 1985;17(3):278–282. doi: 10.1002/ana.410170310. [DOI] [PubMed] [Google Scholar]
  235. Wohrle D., Kotzot D., Hirst M. C., Manca A., Korn B., Schmidt A., et al. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile site, in a male with the clinical phenotype of fragile X syndrome. American Journal of Human Genetics. 1992;51(2):299–306. [PMC free article] [PubMed] [Google Scholar]
  236. World Health Organization. (1980a). International classification of impairments, disabilities and handicaps. Geneva, Switzerland: Author.
  237. World Health Organization. (1980b). International statistical classification of diseases (9th ed.). Geneva, Switzerland: Author.
  238. World Health Organization. (1992). International statistical classification of diseases (10th ed.). Geneva, Switzerland: Author.
  239. Yeargin-Allsopp M., Boyle C. Overview: The epidemiology of neurodevelopmental disorders. Mental Retardation and Developmental Disabilities Research Reviews. 2002;8(3):113–116. doi: 10.1002/mrdd.10030. [DOI] [PubMed] [Google Scholar]
  240. Yeargin-Allsopp M., Boyle C. Overview: The epidemiology of neurodevelopmental disorders. Mental Retardation and Developmental Disabilities Research Reviews. 2002;8(3):113–116. doi: 10.1002/mrdd.10030. [DOI] [PubMed] [Google Scholar]
  241. Yeargin-Allsopp M., Murphy C. C., Cordero J. F., Decoufle P., Hollowell J. G. Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Developmental Medicine and Child Neurology. 1997;39(3):142–149. doi: 10.1111/j.1469-8749.1997.tb07401.x. [DOI] [PubMed] [Google Scholar]
  242. Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E., et al. Fragile X genotype characterized by an unstable region of DNA. Science. 1991;252(5010):1179–1181. doi: 10.1126/science.252.5009.1179. [DOI] [PubMed] [Google Scholar]
  243. Zigler E. Mental retardation. Science. 1967;157(788):578–579. [PubMed] [Google Scholar]
  244. Zigler E., Butterfield E. C. Rigidity in the retarded: A further test of the Lewin-Kounin formulation. Journal of Abnormal Psychology. 1966;71(3):224–231. doi: 10.1037/h0023403. [DOI] [PubMed] [Google Scholar]
  245. Zigman W. B., Schupf N., Sersen E., Silverman W. Prevalence of dementia in adults with and without Down syndrome. American Journal on Mental Retardation. 1996;100(4):403–412. [PubMed] [Google Scholar]

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