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Neuropsychiatric and behavioral aspects of trisomy 21

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Abstract

Down syndrome (DS), or trisomy 21, is the most common identifiable genetic cause of mental retardation. The syndrome is unique with respect to its cognitive, behavioral, and psychiatric profiles. The well-known cheerful and friendly demeanor often creates a personality stereotype, with parents and observers commenting on the positive attributes. Despite these strengths, approximately 20% to 40% of children with DS have recognized behavioral problems. Such problems persist through adulthood, with a decrease in externalizing symptoms of aggressiveness and attention problems and the emergence of internalizing symptoms of depression and loneliness. In adulthood, the presence of early-onset dementia of the Alzheimer type and cognitive decline may pose a challenge in recognizing these internalizing symptoms. Understanding the age-related changes in cognitive functioning and behavioral profiles in individuals with DS provides insight into clinical and treatment implications.

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References and Recommended Reading

  1. Roubertoux PL, Kerdelhue B: Trisomy 21: from chromosomes to mental retardation. Behav Genet 2006, 36:346–354.

    Article  PubMed  Google Scholar 

  2. Dunn PM: Dr. Langdon Down (1828–1896) and ‘mongolism’. Arch Dis Child 1991, 66:827–828.

    Article  PubMed  CAS  Google Scholar 

  3. Patterson D, Costa AC: Down syndrome and genetics — a case of linked histories. Nat Rev Genet 2005, 6:137–147.

    Article  PubMed  CAS  Google Scholar 

  4. Ford CE, Jones KW, Miller OJ, et al.: The chromosomes in a patient showing both Mongolism and the Klinefelter syndrome. Lancet 1959, 1:709–710.

    Article  PubMed  CAS  Google Scholar 

  5. Book JA, Fraccaro M, Lindsten J: Cytogenetical observations in Mongolism. Acta Paediatr 1959, 48:453–468.

    Article  PubMed  CAS  Google Scholar 

  6. Jacobs PA, Baikie AG, Court Brown WM, Strong JA: The somatic chromosomes in Mongolism. Lancet 1959, 1:710.

    Article  PubMed  CAS  Google Scholar 

  7. Lejeune J, Gauthier M, Turpin R: Etude des chromosomes somatiques de neuf enfants mongoliens [in French]. C.R. Acad Sci Paris 1950, 248:1721–1722.

    Google Scholar 

  8. Birth defects surveillance data from selected states, 1998–2002. Birth Defects Res A Clin Mol Teratol 2005, 73:758–853.

  9. Hunter A: Down syndrome. In Management of Genetic Syndromes, edn 2. Edited by Cassidy SB, Allanson JE. Hoboken, NJ: John Wiley & Sons; 2005: 191–210.

    Google Scholar 

  10. Nicham R, Weitzdorfer R, Hauser E, et al.: Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome. J Neural Transm Suppl 2003, 67:173–191.

    PubMed  Google Scholar 

  11. Berry P, Groeneweg G, Gibson D, et al.: Annotation: long term outcome for people with Down’s syndrome. J Child Psychol Psychiatry 1994, 35:425–439.

    Article  Google Scholar 

  12. Fidler DJ, Hodapp RM: Craniofacial maturity and perceived personality in children with Down syndrome. Am J Ment Retard 1999, 104:410–421.

    Article  PubMed  CAS  Google Scholar 

  13. Ricci LA, Hodapp RM: Fathers of children with Down’s syndrome versus other types of intellectual disability: perception, stress, and involvement. J Intellect Disabil Res 2003, 47:273–284.

    Article  PubMed  CAS  Google Scholar 

  14. Dykens EM, Kasari C: Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. Am J Ment Retard 1997, 102:228–237.

    Article  PubMed  CAS  Google Scholar 

  15. Hodapp RM: Down syndrome: developmental, psychiatric, and management issues. Child Adolesc Psychiatr Clin N Am 1996, 5:881–894.

    Google Scholar 

  16. Myers BA, Pueschel SM: Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis 1991, 179:609–613.

    Article  PubMed  CAS  Google Scholar 

  17. Gath A, Gumley D: Behaviour problems in retarded children with special reference to Down’s syndrome. Br J Psychiatry 1986, 149:156–161.

    Article  PubMed  CAS  Google Scholar 

  18. Holland AJ, Hon J, Huppert FA, et al.: Incidence and course of dementia in people with Down’s syndrome: findings from a population-based study. J Intellect Disabil Res 2000, 44:138–146.

    Article  PubMed  Google Scholar 

  19. Royston MC, McKenzie JE, Gentleman SM, et al.: Overexpression of s100beta in Down’s syndrome: correlation with patient age and with beta-amyloid deposition. Neuropathol Appl Neurobiol 1999, 25:387–393.

    Article  PubMed  CAS  Google Scholar 

  20. Visser FE, Aldenkamp AP, van Huffelen AC, et al.: Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard 1997, 101:400–412.

    PubMed  CAS  Google Scholar 

  21. Devenny DA, Silverman WP, Hill AL, et al.: Normal ageing in adults with Down’s syndrome: a longitudinal study. J Intellect Disabil Res 1996, 40:208–221.

    Article  PubMed  Google Scholar 

  22. Zigman WB, Schufp N, Zigman A, et al.: Aging and Alzheimer disease in people with mental retardation. Int Rev Res Ment Retard 1993, 19:41–70.

    Article  Google Scholar 

  23. Melyn MA, White DT: Mental and development milestones of non-institutionalized Down’s syndrome children. Pediatrics 1973, 52:542–545.

    PubMed  CAS  Google Scholar 

  24. Vicari S: Motor development and neuropsychological patterns in persons with Down syndrome. Behav Genet 2006, 36:355–364.

    Article  PubMed  Google Scholar 

  25. Mervis CF, Robinson BF: Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Dev Neuropsychol 2000, 17:111–126.

    Article  PubMed  CAS  Google Scholar 

  26. Chapman RS, Seung HK, Schwartz SE, Kay-Raining Bird E: Language skills of children and adolescent with Down syndrome: production deficits. J Speech Lang Hear Res 1998, 41:861–873.

    PubMed  CAS  Google Scholar 

  27. Dykens EM, Hodapp RM, Evans DW: Profiles and development of adaptive behavior in children with Down syndrome. Downs Syndr Res Pract 2006, 9:45–50.

    Article  PubMed  Google Scholar 

  28. Cuskelly M, Dadds M: Behavioural problems in children with Down’s syndrome and their siblings. J Child Psychol Psychiatry 1992, 33:749–761.

    Article  PubMed  CAS  Google Scholar 

  29. Blunden S, Lushington K, Lorenzen B, et al.: Neuropsychological and psychosocial function in children with a history of snoring or behavioral sleep problems. J Pediatr 2005, 146:780–786.

    Article  PubMed  Google Scholar 

  30. Levanon A, Tarasiuk A, Tal A: Sleep characteristics in children with Down syndrome. J Pediatr 1999, 134:755–760.

    Article  PubMed  CAS  Google Scholar 

  31. Coe DA, Matson JL, Russell DW, et al.: Behavior problems of children with Down syndrome and life events. J Autism Dev Disord 1999, 29:149–156.

    Article  PubMed  CAS  Google Scholar 

  32. Dykens EM, Shah B, Sagun J, et al.: Maladaptive behavior in children and adolescents with Down’s syndrome. J Intellect Disabil Res 2002, 46:484–492.

    Article  PubMed  CAS  Google Scholar 

  33. Gath A, Gumley D: Behaviour problems in retarded children with special reference to Down’s syndrome. Br J Psychol 1986, 149:156–161.

    Article  CAS  Google Scholar 

  34. Kasari C, Freeman SF: Task-related social behavior in children with Down syndrome. Am J Ment Retard 2001, 106:253–264.

    Article  PubMed  CAS  Google Scholar 

  35. Myers BA, Pueschel SM: Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis 1991, 179:609–613.

    Article  PubMed  CAS  Google Scholar 

  36. Capone GT, Grados MA, Kaufmann WE, et al.: Down syndrome and comorbid autism-spectrum disorder: characterization using the Aberrant Behavior Checklist. Am J Med Genet A 2005, 134:373–380.

    PubMed  Google Scholar 

  37. Kent L, Evans J, Paul M, et al.: Comorbidity of autistic spectrum disorder in children with Down syndrome. Dev Med Child Neurol 1999, 41:153–158.

    Article  PubMed  CAS  Google Scholar 

  38. Vicari S, Carlesimo G: Visual and spatial long-term memory: differential pattern of impairments in Williams and Down syndromes. Dev Med Child Neurol 2005, 47:305–311.

    Article  PubMed  Google Scholar 

  39. Stores R, Stores G, Fellows B, et al.: Daytime behaviour problems and maternal stress in children with Down’s syndrome, their siblings, and non-intellectually disabled and other intellectually disabled peers. J Intellect Disabil Res 1998, 42:228–237.

    Article  PubMed  Google Scholar 

  40. Myers BA, Pueschel SM: Major depression in a small group of adults with Down syndrome. Res Dev Disabil 1995, 16:285–299.

    Article  PubMed  CAS  Google Scholar 

  41. Capone G, Goyal P, Ares W, et al.: Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet C Semin Med Genet 2006, 142:158–172.

    Google Scholar 

  42. Temple V, Jozsvai E, Konstantareas MM, et al.: Alzheimer dementia in Down’s syndrome: the relevance of cognitive ability. J Intellect Disabil Res 2001, 45:47–55.

    Article  PubMed  CAS  Google Scholar 

  43. Devenny DA, Krinsky-McHale SJ, Sersen G, et al.: Sequence of cognitive decline in dementia in adults with Down’s syndrome. J Intellect Disabil Res 2000, 44:654–665.

    Article  PubMed  Google Scholar 

  44. Krinsky-McHale SJ, Devenny DA, Silverman WP: Changes in explicit memory associated with early dementia in adults with Down’s syndrome. J Intellect Disabil Res 2002, 46:198–208.

    Article  PubMed  CAS  Google Scholar 

  45. Collacott RA, Cooper SA, McGrother C: Differential rates of psychiatric disorder in adults in Down’s syndrome compared with other mentally handicapped adults. Br J Psychol 1992, 161:671–674.

    Article  CAS  Google Scholar 

  46. Cooper SA, Prasher VP: Maladaptive behaviours and symptoms of dementia in adults with Down’s syndrome compared with adults with intellectual disability of other aetiologies. J Intellect Disabil Res 1998, 42:293–300.

    Article  PubMed  Google Scholar 

  47. Lund J: The prevalence of psychiatric morbidity in mentally retarded adults. Acta Psychiatr Scand 1985, 72:563–570.

    Article  PubMed  CAS  Google Scholar 

  48. Myers BA, Pueschel SM: Brief report: a case of schizophrenia in a population with Down syndrome. J Autism Dev Disord 1994, 24:95–98.

    Article  PubMed  CAS  Google Scholar 

  49. McCarthy J, Boyd J: Psychopathology and young people with Down’s syndrome: childhood predictors and adult outcome of disorder. J Intellect Disabil Res 2001, 45:99–105.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Jeannie Visootsak.

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Visootsak, J., Sherman, S. Neuropsychiatric and behavioral aspects of trisomy 21. Curr Psychiatry Rep 9, 135–140 (2007). https://doi.org/10.1007/s11920-007-0083-x

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