High Phenotypic Correlations among Siblings with Autism and Pervasive Developmental Disorders

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 67, Issue 4, 1996, Pages 354-360

  Szatmari, Peter ^a,e   Jones, Marshall B ^d   Holden, Jeannette ^b   Bryson, Susan ^c   Mahoney, William ^a   Tuff, Larry ^a   MacLean, Joanna ^a   White, Bradley ^a   Bartolucci, Giampiero ^a   Schutz, Chris ^a   Robinson, Paula ^a   Hoult, Lorraine ^a  

^a MCMASTER UNIVERSITY   (Canada)

^b QUEEN S UNIVERSITY   (Canada)

^c YORK UNIVERSITY   (Canada)

^d PENN STATE COLLEGE OF MEDICINE   (United States)

^e HAMILTON HEALTH SCIENCES   (Canada)

Author keywords

Autism; Family studies; Genetics

Indexed keywords

ADAPTATION; ARTICLE; AUTISM; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FAMILY STUDY; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTELLIGENCE QUOTIENT; PRIORITY JOURNAL; SIBLING; SOCIAL BEHAVIOR; SOCIAL INTERACTION;

AUTISTIC DISORDER; BIRTH ORDER; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; HUMANS; INTELLIGENCE TESTS; INTERVIEWS; MEDICAL HISTORY TAKING; NUCLEAR FAMILY; PHENOTYPE; PSYCHOMETRICS; REPRODUCIBILITY OF RESULTS;

EID: 0029813328     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960726)67:4<354::AID-AJMG7>3.0.CO;2-M     Document Type: Article

References (48)

1. American Psychiatric Association (1994): "Diagnostic and Statistical Manual," 4th ed. Washington, DC: The American Psychiatric Association.
2. Anderson VE, Chern MM, Schwanebeck E (1981): Multiplex families and the problem of heterogeneity. "Genetic Research Strategies for Psychobiology and Psychiatry." Pacific Grove: Boxwood Press, pp 341-351.
3. Andrew SE, Goldberg P, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, et al. (1993): The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4:398-403.
4. Bartak L, Rutter M (1976): Differences between mentally retarded and normally intelligent autistic children. J Autism Childh Schizophr 6:109-120.
5. Bryson SE, Clark BS, Smith I (1988): First report of a Canadian epidemiological study of autistic syndromes. J Child Psychol Psychiatry 29:433-446.
6. Fisch GS, Silverman W, Jenkins EC (1991): Genetic and other factors that contribute to variability in cytogenetic expression in fragile X males. Am J Med Genet 38:404-407.
7. Folstein SE, Rutter M (1977): Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18:297-321.
8. Folstein SE, Rutter M (1991): "Family History Interview for Developmental Disorders of Cognition and Social Functioning." Unpublished.
9. Freeman BJ, Ritvo ER, Mason-Brothers A et al. (1989): Psychometric assessment of first-degree relatives of 62 autistic probands in Utah. Am J Psychiatry 146:361-397.
10. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ (1992): Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-546.
11. Huntington's Disease Collaborative Research Group (1993): A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
12. Kawaguchi Y, Okamoto T, Taniwaki M (1994): CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228.
13. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, et al. (1994): Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLS). Nat Genet 6:9-13.
14. Knight SJL, Voelckel MA, Hirst MC, Flannery AV, Moncia A, Davies KE (1994): Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet 55:81-86.
15. Krug DA, Arik J, Almond P (1980): Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. J Child Psychol Psychiatry 21:221-229.
16. Landa R, Piven J, Wzorek MM, et al. (1992): Social language use in parents of autistic individuals. Psychol Med 22:245-254.
17. Le Couteur A, Rutter M, Lord C, Rios P, Robertson S, Holdgrater M, McLennan JD (1989): Autism diagnostic interview. J Autism Dev Disord 19:363-388.
18. Levine MN (1986): Leiter International Performance Scale: A Handbook. "Arthur Adaptation of the Leiter International Performance Scale: A Handbook." Los Angeles: Western Psychological Services.
19. Levy HL, Waisbren SE (1983): Effects of untreated maternal phenylketonuria and hyperphenylalanemia on the fetus. N Engl J Med 309:1269-1274.
20. Lord C (1992): Birth order effects on nonverbal IQ in families with multiple incidence of autism or pervasive developmental disorder. Letter to the Editor. J Autism Dev Disord 22:663-666.
21. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E (1989): Autism Diagnostic Observation Schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-211.
22. Narayan S, Moyes B, Wolff S (1990): Family characteristics of autistic children: A further report. J Autism Dev Disord 20:523-535.
23. Plomin R, Owen MJ, McGuffin P (1994): The genetic basis of complex human behaviors. Science 264:1733-1739.
24. Ritvo ER, Freeman BJ, Mason-Brothers A, Mo A, Ritvo AM (1985): Concordance for the syndrome of autism in 40 pairs of afflicted twins. Am J Psychiatry 142:74-77.
25. Ritvo ER, Jorde LB, Mason-Brothers A, Freeman BJ, Pingree C, Jones MB, McMahon WM, Petersen PB, Jenson WR, Mo A (1989): The UCLA-University of Utah Epidemiologic Survey of Autism: Recurrence risk estimates and genetic counselling. Am J Psychiatry 146:1032-1036.
26. Ross CA, McInnish MG, Margolis RL, Li S-H (1993): Genes with triplet repeats: Candidate mediators of neuropsychiatric disorders. Trends Neurosci 16:254-260.
27. Rousseau F, Heitz D, Taleton J, (1994): A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. Am J Hum Genet 55:225-237.
28. Rutter M, Bailey A, Bolton P, Le Couteur A (1994): Autism and known medical conditions: Myth and substance. J Child Psychol Psychiatry 35:311-322.
29. Smalley SL (1991): Genetic influences in autism. Psychiatr Clin North Am 14:125-139.
30. Snell RG, MacMillan JC, Cheadle JP, et al. (1993): Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4:393-397.
31. Sparrow S, Balla D, Cicchetti D (1984): "Vineland Adaptive Behavior Scales (Survey Form)." Circle Pines, Minnesota: American Guidance Service.
32. Spiker D, Lotspeich L, Kraemer HC, et al. (1994): Genetics of autism: Characteristics of affected and unaffected children from 37 multiplex families. Am J Med Genet 54:27-35.
33. Steffenburg S, Gillberg C, Hellgren L, et al. (1989): J Child Psychol Psychiatry 30:405-416.
34. Szatmari P (1992): The validity of autistic spectrum disorders: A literature review. J Autism Dev Disord 22:583-600.
35. Szatmari P, Mahoney W (1993): The genetics of autism and pervasive developmental disorders: A review of the evidence. J Dev Disabilities 21:39-55.
36. Szatmari P, Bartolucci G, Bremner R (1989a): Asperger's syndrome and autism: Comparisons on early history and outcome. Dev Med Child Neurol 31:709-720.
37. Szatmari P, Bartolucci G, Bremner R, Bond S, Rich S (1989b): A follow-up study of high-functioning autistic children. J Autism Dev Disord 19:213-225.
38. Szatmari P, Tuff L, Finlayson MAJ, Bartolucci G (1990): Asperger's syndrome and autism: Neurocognitive aspects. J Am Acad Child Adolesc Psychiatry 29:130-136.
39. Szatmari P, Jones MB, Fisman S, Tuff L, Bartolucci G, Mahoney WJ, Bryson SE (1995): Parents and collateral relatives of children with pervasive developmental disorders: A family history study. Am J Med Genet 60:282-289.
40. Thorndike RL, Hagan EP, Sutter JM (1985): "Stanford-Binet Intelligence Scale," 4th ed. Chicago: Riverside.
41. Tsai LY, Beisler JM (1983): The development of sex differences in infantile autism. Br J Psychiatry 142:373-378.
42. Volkmar FR, Sparrow SS, Goudreau D, Cicchetti D, Paul R, Cohen DJ (1987): Social deficits in autism: An operational approach using the Vineland Adaptive Behavior Scales. J Am Acad Child Psychiatry 26:156-161.
43. Volkmar FR, Szatmari P, Sparrow S (1993): Sex differences in pervasive developmental disorders. J Autism Dev Disord 23:579-591.
44. Wechsler, D (1974) "Manual for the Wechsler Intelligence Scale for Children-Revised." New York, New York: The Psychological Corporation.
45. Wechsler, D (1981) "WAIS-R Manual Wechsler Adult Intelligence Scale-Revised." New York, New York: The Psychological Corporation. Harcourt Brace Jovanovich Publishers.
46. Wechsler, D (1967) "Manual for the Wechsler Preschool and Primary Scale of Intelligence." New York, New York: The Psychological Corporation.
47. Wing L, Gould J (1979): Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. J Child Psychol Psychiatry 20:29-46.
48. World Health Organization (1992): "International Classification of Diseases," 10th ed. Draft of Chapter 5: Categories F00-F99, mental, behavioural developmental disorders. Geneva: World Health Organization.