A Broader Phenotype of Autism: The Clinical Spectrum in Twins

Journal of Child Psychology and Psychiatry and Allied Disciplines - Tập 37 Số 7 - Trang 785-801 - 1996
Ann Le Couteur1, Anthony P. Monaco2, Susan Goode2, Andrew Pickles2, Irving I. Gottesman3, Sarah Robertson4, Michael Rutter2
1Fleming Nuffield Unit, Newcastle Upon Tyne, U.K.
2Institute of Psychiatry, London, U.K.
3University of Virginia, Charlottesville, U.S.A.
4St. George's Hospital, London, U.K.

Tóm tắt

The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same‐sex twin pairs, where one or both twins had autism. In the non‐autistic cotwin (i.e. In twin pairs discordant for autism) it was common to find language impairments in childhood and social deficits persisting into adulthood. Concordance for this broader phenotype was much greater in MZ pairs than DZ pairs, indicating a strong genetic component. Behavioural and cognitive manifestations of autism were compared both within and between MZ twin pairs. The variation was as great within MZ twin pairs as between pairs, suggesting that it does not index genetic heterogeneity (although aetiological heterogeneity probably exists). Current diagnostic practices need re‐evaluation.

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Tài liệu tham khảo

American Psychiatric Association, 1994, Diagnostic and statistical manual of mental disorders (DSM‐FV)

10.1192/bjp.138.5.416

10.1111/j.1469-7610.1993.tb01064.x

10.1017/S0033291700028099

10.1111/j.1469-7610.1996.tb01381.x

10.1007/BF01531501

10.1111/j.1469-7610.1994.tb02300.x

Bolton P. Macdonald H. Pickles A. &Rutter M.(1992).Genetic aspects of autism: family data and the broader phenotype. Paper presented at the 9th Congress of the European Society for Child and Adolescent Psychiatry London.

Cantwell D. P., 1994, Child and adolescent psychiatry: modern approaches, 2

10.1007/978-1-4684-0787-7_18

Carey G., 1981, What is a case?: the problem of definition in psychiatric community surveys, 29

10.1002/ajmg.1320390213

10.1037/0033-2909.88.2.322

Dunn L. M., 1982, British Picture Vocabulary Scale (manual for long and short forms)

10.1001/archpsyc.1978.01770310043002

Folstein S., Genetic influences and infantile autism, Nature, 265, 726, 10.1038/265726a0

Folstein S., Infantile autism: A genetic study of 21 twin pairs, Journal of Child Psychology and Psychiatry, 18, 291

Fombonne E., A family study of autism: cognitive patterns and levels in parents and siblings, Journal of Child Psychology and Psychiatry

10.1111/j.1469-7610.1992.tb01959.x

10.1111/j.1469-8749.1992.tb11450.x

Goldsmith H. H., 1995, Frontiers of developmental psychopathology

10.1001/archpsyc.1989.01810100009002

Gottesman I. I., 1972, Schizophrenia and genetics: a twin study vantage point

Howlin P., 1987, Language development and disorders. Clinics in developmental medicine 101\102

Howlin P., 1987, Treatment of autistic children

Huntley M., 1987, Reynell Developmental Language Scales

Jorde L. B., 1991, Complex segregation analysis of autism, American Journal of Human Genetics, 49, 932

10.1037/0022-006X.51.5.683

10.1017/S0033291700032918

10.1044/jshr.3406.1339

10.1007/BF02212201

10.1007/BF02212936

Lord C, 1994, Child and adolescent psychiatry: modern approaches, 569

10.1007/BF02211841

10.1007/BF02172145

Pickles A. R., 1995, Latent class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism, Journal of Human Genetics, 57, 717

10.1097/00004583-199003000-00004

Raven J. C, 1982, Manual for Raven's Progressive Matrices and Vocabulary Scales: research and references

10.1037/10131-013

10.1111/j.1469-7610.1994.tb01164.x

10.1007/978-1-4899-0792-9_16

10.1111/j.1469-7610.1991.tb01916.x

10.1001/archpsyc.1988.01800340081013

10.1002/ajmg.1320540107

10.1111/j.1469-7610.1989.tb00254.x

Stutsman R., 1931, Mental measurement of preschool children

Szatmari P., 1993, Lack of cognitive impairment in first degree relatives of children with pervasive developmental disorders, Journal of the American Academy of Child and Adolescent Psychiatry, 26, 156

Wechsler D., 1974, Manual for the Wechsler Intelligence Scale for Children–Revised

Wechsler D., 1981, Manual for the Wechsler Adult Intelligence Scale–Revised

Wing L., 1987, Handbook of autism and pervasive developmental disorders, 3

10.1111/j.1469-7610.1996.tb01458.x

10.1111/j.1469-7610.1988.tb00699.x

World Health Organization, 1992, The ICD‐10 Classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines

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Journal of Child Psychology and Psychiatry and Allied Disciplines

Tập 37 Số 7

785-801

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