Seminars in Pediatric Neurology
Volume 15, Issue 1 , Pages 27-31 , March 2008

Genetic Evaluation of Autism

  • Nancy J. Mendelsohn, MD

      Affiliations

    • Division of Medical Genetics, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN.
    • Corresponding Author InformationAddress reprint requests to Nancy J. Mendelsohn, MD, 2525 Chicago Avenue, Minneapolis, MN 55404.
  • ,
  • G. Bradley Schaefer, MD

      Affiliations

    • University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE.

References 

  1. Kanner L. Autistic disturbances of affective contact. Nerv Child. 1943;2:217–250
  2. Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM- IV). Washington, DC: American Psychiatric Press, Inc; 1994;
  3. Seltzer MM, Shattuck P, Abbeduto L, et al. Trajectory of development in adolescents and adults with autism. Ment Retard Dev Disabil Res Rev. 2004;10:234–247
  4. Lord C, Rutter M, Le Couteur A. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24:659–685
  5. Lord C, Risi S, Lambrecht L, et al. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–223
  6. MMWR. Mental Health in the United States: Parental report of diagnosed autism in children aged 4-17 years–United States, 2003-2004. Morb Mortal Wkly Rep. 2006;55:481–486
  7. Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: An update. J Autism Dev Disord. 2003;33:365–382
  8. Hollander E, King A, Delaney K, et al. Obsessive-compulsive behaviors in parents of multiplex autism families. Psychiatry Res. 2003;117:11–16
  9. Spence SJ. The genetics of autism. Semin Pediatr Neurol. 2004;11:196–204
  10. Battaglia A, Carey JC. Etiologic yield of autistic spectrum disorders: A prospective study. Am J Med Genet C Semin Med Genet. 2006;142:3–7
  11. Challman TD, Barbaresi WJ, Katusic SK, et al. The yield of the medical evaluation of children with pervasive developmental disorders. J Autism Dev Disord. 2003;33:187–192
  12. Chudley AE, Gutierrez E, Jocelyn LJ, et al. Outcomes of genetic evaluation in children with pervasive developmental disorder. J Dev Behav Pediatr. 1998;19:321–325
  13. Kosinovsky B, Hermon S, Yoran-Hegesh R, et al. The yield of laboratory investigations in children with infantile autism. J Neural Transm. 2005;112:587–596
  14. Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr. 1995;127:193–199
  15. Shevell MI, Majnemer A, Rosenbaum P, et al. Etiologic yield of autistic spectrum disorders: A prospective study. J Child Neurol. 2001;16:509–512
  16. Abdul-Rahman OA, Hudgins L. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med. 2006;8:50–54
  17. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. 2006;8:549–556
  18. Herman GE, Henninger N, Ratliff-Schaub K, et al. Genetic testing in autism: how much is enough?. Genet Med. 2007;9:268–274
  19. Schaefer GB, Bradley MD, Mendelsohn NJ. MDIGenetics evaluation for the etiologic diagnosis of autism spectrum disorders.. Genet Med. 2008;10:4–12
  20. Battaglia A. On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies. Am J Med Genet A. 2007;143:789–790
  21. Johnson CP, Myers SM. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120:1183–1215
  22. Chess S. Autism in children with congenital rubella. J Autism Child Schizophr. 1971;1:33–47
  23. Alsdorf R, Wyszynski DF. Teratogenicity of sodium valproate. Expert Opin Drug Saf. 2005;4:345–353
  24. Arndt TL, Stodgell CJ, Rodier PM. The teratology of autism. Int J Dev Neurosci. 2005;23:189–199
  25. Stromland K, Philipson E, Andersson Gronlund M. Offspring of male and female parents with thalidomide embryopathy: Birth defects and functional anomalies. Teratology. 2002;66:115–121
  26. Schaefer GB: Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med (in press)
  27. Stefanatos GA, Kinsbourne M, Wasserstein J. Acquired epileptiform aphasia: A dimensional view of Landau-Kleffner syndrome and the relation to regressive autistic spectrum disorders. Child Neuropsychol. 2002;8:195–228
  28. Castermans D, Wilquet V, Steyaert J, et al. Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism. Autism. 2004;8:141–161
  29. Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet. 2005;6:3
  30. Vorstman JA, Staal WG, van Daalen E, et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry. 2006;11:18–28
  31. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. Chromosomes in autism and related pervasive developmental disorders: A cytogenetic study. J Intellect Disabil Res. 1998;42:8–12
  32. Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A. 2006;140:2757–2767
  33. Jacquemont ML, Sanlaville D, Redon R, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006;43:843–849
  34. Clifford S, Dissanayake C, Bui QM, et al. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord. 2007;37:738–747
  35. Cohen IL, Sudhalter V, Pfadt A, et al. Why are autism and the fragile-X syndrome associated? (Conceptual and methodological issues). Am J Hum Genet. 1991;48:195–202
  36. Goffin A, Hoefsloot LH, Bosgoed E, et al. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet. 2001;105:521–524
  37. Hatton DD, Sideris J, Skinner M, et al. Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006;140:1804–1813
  38. Voigt RG, Dickerson CL, Reynolds AM, et al. Laboratory evaluation of children with autistic spectrum disorders: A guide for primary care pediatricians. Clin Pediatr. 2000;39:669–671(Phila)
  39. Watson MS, Leckman JF, Annex B, et al. Fragile X in a survey of 75 autistic males. N Engl J Med. 1984;310:1462
  40. Artigas-Pallares J, Gabau-Vila E, Guitart-Feliubadalo M. Syndromic autism: II. Genetic syndromes associated with autism. Rev Neurol. 2005;40(suppl 1):S151–S162
  41. Erlandson A, Hagberg B. MECP2 abnormality phenotypes: Clinicopathologic area with broad variability. J Child Neurol. 2005;20:727–732
  42. Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28:205–211
  43. Davidovitch M, Patterson B, Gartside P. Head circumference measurements in children with autism. J Child Neurol. 1996;11:389–393
  44. Fidler DJ, Bailey JN, Smalley SL. Macrocephaly in autism and other pervasive developmental disorders. Dev Med Child Neurol. 2000;42:737–740
  45. Lainhart JE, Bigler ED, Bocian M, et al. Head circumference and height in autism: A study by the Collaborative Program of Excellence in Autism. Am J Med Genet A. 2006;140:2257–2274
  46. Lainhart JE, Piven J, Wzorek M, et al. Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry. 1997;36:282–290
  47. Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005;42:318–321

PII: S1071-9091(08)00006-5

doi: 10.1016/j.spen.2008.01.005

Seminars in Pediatric Neurology
Volume 15, Issue 1 , Pages 27-31 , March 2008