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Neurodevelopmental Disorders in Common Syndromes

  • Helga V. Toriello
Chapter

Abstract

Numerous genetic syndromes have had the cognitive and behavioral components of the phenotype delineated, leading to improved diagnosis of the condition, as well as to better management and interventional approaches. This article is a review of some of what is known about the neurodevelopmental aspects of some of the more common genetic syndromes.

Keywords

Autism Spectrum Disorder Autism Spectrum Disorder Down Syndrome Turner Syndrome Williams Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Pelc K, Cheron G, Dan B. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsych Dis Treat. 2008;4:577–84.Google Scholar
  2. 2.
    Reiss AL. Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatr. 2009;50:87–98.CrossRefGoogle Scholar
  3. 3.
    Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJA, Tarleton J, Simensen R, Nance W. Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders. Am J Med Genet. 2007;1434A:2478–89.CrossRefGoogle Scholar
  4. 4.
    Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet. 2004;128A:110–13.PubMedCrossRefGoogle Scholar
  5. 5.
    Williams CA, Dagli AI, Driscoll DJ. Angelman syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: Univ Washington; 2008.Google Scholar
  6. 6.
    Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet. 2006;140A:413–18.CrossRefGoogle Scholar
  7. 7.
    Berry RJ, Leitner RP, Clarke AR, Einfeld SL. Behavioral aspects of Angelman syndrome: a case control study. Am J Med Genet. 2005;132A:8–12.PubMedCrossRefGoogle Scholar
  8. 8.
    Lott IT, Dierssen M. Cognitive deficits and associated neurological complications in individuals with Down’s syndrome. Lancet Neurol. 2010;9:623–33.PubMedCrossRefGoogle Scholar
  9. 9.
    Fidler DJ, Hepburn SL, Mankin G, Rogers SJ. Praxis skills in young children with Down syndrome, other developmental disabilities, and typically developing children. Am J Occ Ther. 2005;59:129–38.CrossRefGoogle Scholar
  10. 10.
    Dykens EM. Psychiatric and behavioral disorders in persons with Down syndrome. MRDD Res Rev. 2007;13:272–8.Google Scholar
  11. 11.
    Adams D, Oliver C. The relationship between acquired impairments of executive function and behavior change in adults with Down syndrome. J Intellect Disabil Res. 2010;54:393–405.PubMedCrossRefGoogle Scholar
  12. 12.
    Saul RA, Tarleton JC. FMR1-related disorders. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: Univ Washington; 2010.Google Scholar
  13. 13.
    Cornish K, Kogan C, Turk J, Manly T, James N, Mills A, Dalton A. The emerging fragile X permutation phenotype: evidence from the domain of social cognition. Brain Cogn. 2005;57:53–60.PubMedCrossRefGoogle Scholar
  14. 14.
    Lightbody AA, Reiss AL. Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Devel Disabil Res Rev. 2009;15:343–52.CrossRefGoogle Scholar
  15. 15.
    Tsouris JA, Brown WT. Neuropsychiatric symptoms of fragile X syndrome. CNS Drugs. 2004;18:687–703.CrossRefGoogle Scholar
  16. 16.
    Hessl D, Tassone F, Cordeiro L, Koldewyn K, McCormick C, Green C, et al. Brief report: aggression and stereotypic behavior in males with fragile X syndrome – moderating secondary genes in a “single gene” disorder. J Autism Dev Disord. 2007;38:184–9.PubMedCrossRefGoogle Scholar
  17. 17.
    Moore CJ, Daly EM, Schmitz N, Tassone F, Tysoe C, Hagerman RJ, et al. A neuropsychological investigation of male premutations carriers of fragile X syndrome. Neuropsychologia. 2004;42:1934–47.PubMedCrossRefGoogle Scholar
  18. 18.
    Freund LS, Reiss AL, Abrams MT. Psychiatric disorders associated with fragile X in the young female. Pediatrics. 1993;91:321–9.PubMedGoogle Scholar
  19. 19.
    Bourgeois J, Coffey S, Rivera SM, Hessl D, Gane LW, Tassone F, et al. Fragile X premutation disorders – expanding the psychiatric perspective. J Clin Psychiatr. 2009;70:852–62.CrossRefGoogle Scholar
  20. 20.
    Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. Neuropsychological profiles of adults with Klinefelter syndrome. J Int Neuropsychol Soc. 2001;7:446–56.PubMedCrossRefGoogle Scholar
  21. 21.
    Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009;123:e865–70.PubMedCrossRefGoogle Scholar
  22. 22.
    Gerschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral phenotype of Klinefelter syndrome. MRDD Res Rev. 2000;6:107–16.Google Scholar
  23. 23.
    Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MPD, Kushner H, et al. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet. 2007;146A:708–19.CrossRefGoogle Scholar
  24. 24.
    Bishop DVM, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, et al. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child. 2010 July 23 (epub ahead of print).Google Scholar
  25. 25.
    Boks MPM, de Vette MHT, Sommer IE, van Rijn S, Giltay JC, Swaab H, Kahn RS. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophren Res. 2007;93:399–402.CrossRefGoogle Scholar
  26. 26.
    Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev. 2009;15:328–32.PubMedCrossRefGoogle Scholar
  27. 27.
    Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, et al. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet. 2008;146A:1509–22.PubMedCrossRefGoogle Scholar
  28. 28.
    Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurol. 2005;65:1037–44.CrossRefGoogle Scholar
  29. 29.
    Dilts CV, Carey JC, Kircher JC, Hoffman RO, Creel D, Ward K, et al. Children and adolescents with neurofibromatosis 1: a behavioral phenotype. Devel Behav Pediatr. 1996;17:229–39.Google Scholar
  30. 30.
    Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, Gerhardt CA. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet. 2007;143A:2261–73.PubMedCrossRefGoogle Scholar
  31. 31.
    Van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 doi: 10.1186/1750–1172–2–4.Google Scholar
  32. 32.
    Lee DA, Portnoy S, Hill P, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005;47:35–38.PubMedCrossRefGoogle Scholar
  33. 33.
    Wingbermuhle E, Egger J, van der Burgt I, Verhoeven W. Neuropsychological and behavioral aspects of Noonan syndrome. Horm Res. 2009;72 suppl:15–23.CrossRefGoogle Scholar
  34. 34.
    Collins E, Turner G. The Noonan syndrome: a review of the clinical and genetic features of 27 cases. J Pediatr. 1973;83:941–50.PubMedCrossRefGoogle Scholar
  35. 35.
    Copet P, Jauregi J, Laurier V, Ehlinger V, Arnaud C, Cobo A-M, et al. Cognitive profile in a large French cohort of adults with Prader–Willi syndrome: differences between genotypes. J Intellect Disabil Res. 2010;54:204–15.PubMedCrossRefGoogle Scholar
  36. 36.
    Whittington J, Holland A, Webb T. Relationship between the IQ of people with Prader–Willi syndrome and that of their siblings: evidence for imprinted gene effects. J Intellect Disabil Res. 2009;53:411–18.PubMedCrossRefGoogle Scholar
  37. 37.
    Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK. A preliminary analysis of the phenomenology of skin-picking in Prader–Willi syndrome. Child Psychiatr Hum Dev. 2010;41:448–63.CrossRefGoogle Scholar
  38. 38.
    Greaves N, Prince E, Evans DW, Charman T. Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism. J Intellect Disabil Res. 2006;50:92–100.PubMedCrossRefGoogle Scholar
  39. 39.
    Ho AY, Dimitropoulos A. Clinical management of behavioral characteristics of Prader–Willi syndrome. Neuropsych Dis Treat. 2010;6:107–18.Google Scholar
  40. 40.
    Dykens EM. Maladaptive and compulsive behavior in Prader–Willi syndrome: new insights from older adults. Am J Ment Retard. 2004;109:142–53.PubMedCrossRefGoogle Scholar
  41. 41.
    Perry A, Sarlo-McGarvey N, Haddad C. Brief report: cognitive and adaptive functioning in 28 girls with Rett syndrome. J Autism Dev Disord. 1991;21:551–6.PubMedCrossRefGoogle Scholar
  42. 42.
    Demeter K. Assessing the developmental level in Rett syndrome: an alternative approach? Eur Child Adolesc Psychiatr. 2000;9:227–33.CrossRefGoogle Scholar
  43. 43.
    Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, Leonard H. The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database. Am J Med Genet. 2006;141B:177–83.PubMedCrossRefGoogle Scholar
  44. 44.
    Wolters PL, Gropman AL, Martin SC, Smith MR, Hildenbrand HL, Brewer CC, Smith ACM. Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. Pediatr Neurol. 2009;41:250–8.PubMedCrossRefGoogle Scholar
  45. 45.
    Udwin O, Webber C, Horn I. Abilities and attainment in Smith-Magenis syndrome. Dev Med Child Neurol. 2001;43:823–8.PubMedCrossRefGoogle Scholar
  46. 46.
    Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006;27:188–92.PubMedCrossRefGoogle Scholar
  47. 47.
    Shelley BP, Robertson MM. The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review. J Neuropsychiatr Clin Neurosci. 2005;17:91–97.CrossRefGoogle Scholar
  48. 48.
    Dykens EM, Smith ACM. Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. J Intellect Disabil Res. 1998;42:481–9.PubMedCrossRefGoogle Scholar
  49. 49.
    Taylor L, Oliver C. The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene–environment interaction. J Intellect Disabil Res. 2008;52:830–41.PubMedCrossRefGoogle Scholar
  50. 50.
    Mouridsen SE, Hansen MB. Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. Eur Child Adolesc Psychiatr. 2002;11:43–48.CrossRefGoogle Scholar
  51. 51.
    Sarimski K. Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. Dev Med Child Neurol. 2003;45:172–8.PubMedCrossRefGoogle Scholar
  52. 52.
    De Vries P, Humphrey A, McCartney D, Prather P, Bolton P, Hunt A. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatr. 2005;14:183–90.CrossRefGoogle Scholar
  53. 53.
    Kopp CM, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008;13:505–10.PubMedCrossRefGoogle Scholar
  54. 54.
    Staley BA, Montenegro MA, Major P, Muzykewicz DA, Halpern EF, Kopp CMC, et al. Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients. Epilepsy Behav. 2008;13:650–3.PubMedCrossRefGoogle Scholar
  55. 55.
    Napolioni V, Moavero R, Curatolo P. Recent advances in neurobiology of tuberous sclerosis complex. Brain Dev. 2009;31:104–13.PubMedCrossRefGoogle Scholar
  56. 56.
    Rovet J. Turner syndrome: a review of genetic and hormonal influences on neuropsychological functioning. Child Neuropsychol. 2004;10:262–79.PubMedCrossRefGoogle Scholar
  57. 57.
    Burnett AC, Reutens DC, Wood AG. Social cognition in Turner syndrome. J Clin Neurosci. 2010;17:283–6.PubMedCrossRefGoogle Scholar
  58. 58.
    De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, Swillen A. Intellectual abilities in a large sample of children with velo-cardio-facial syndrome: an update. J Intellect Disabil Res. 2007;51:666–70.PubMedCrossRefGoogle Scholar
  59. 59.
    Oskarsdottir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P. Disabilities and cognition in children and adolescents with 22q11 deletion syndrome. Dev Med Child Neurol. 2005;47:177–84.PubMedCrossRefGoogle Scholar
  60. 60.
    Murphy KC. The behavioural phenotype in velo-cardio-facial syndrome. J Intellect Disabil Res. 2004;48:524–30.PubMedCrossRefGoogle Scholar
  61. 61.
    Kiley-Brabeck K, Sobin C. Social skills and executive function deficits in children with 22q11 deletion syndrome. Appl Neuropsychol. 2006;13:258–68.PubMedCrossRefGoogle Scholar
  62. 62.
    Antshel KM, Faraone SV, Fremont W, Monuteaux MC, Kates WR, Doyle A, et al. Comparing ADHD in velocardiofacial syndrome to idiopathic ADHD. J Atten Disord. 2007;11 1:64–73.PubMedCrossRefGoogle Scholar
  63. 63.
    Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil. 2009;30:763–73.PubMedCrossRefGoogle Scholar
  64. 64.
    Mervis CB, John AE. Cognitive and behavioral characteristics of children with Williams syndrome. Am J Med Genet. 2010;154C:229–48.PubMedCrossRefGoogle Scholar
  65. 65.
    Cassasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatr Neurol. 2005;32:166–72.CrossRefGoogle Scholar
  66. 66.
    Klein-Tasman BP, Mervis CV. Distinctive personality characteristics of 8-, 9-, and 10-year olds with Williams syndrome. Dev Neuropsychol. 2003;23:269–90.PubMedGoogle Scholar
  67. 67.
    Rhodes SM, Riby DM, Park J, Fraser E, Campbell LE. Executive neuropsychological functioning in individuals with Williams syndrome. Neuropsychologia. 2010;48:1216–26.PubMedCrossRefGoogle Scholar
  68. 68.
    Dykens EM, Rosner BA, Ly T, Sagun J. Music and anxiety in Williams syndrome: a harmonious or discordant relationship? Am J Ment Retard. 2005;5:346–58.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  1. 1.Department of Pediatrics and Human DevelopmentMichigan State University College of Human MedicineEast LansingUSA
  2. 2.Spectrum HealthGrand RapidsUSA

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