Chromosomal Abnormalities in a Series of Children with Autistic Disorder
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In a series of 127 children diagnosed with autistic disorder the karyotypes of 8, on whom data were available, showed the following chromosomal abnormalities: breakage, a 47 XY pattern, trisomy 13, inversion-duplication of chromosome 15, 47 XY, +der (15) (pter q15: p11 pter), 47 XXY and 46 XY, inv (2) (p11:q13pat, 3q+). Compared to those who were not karyotyped or had normal karyotypes, the children with abnormalities, although cognitively more delayed, were not rated as more severely autistic. Facial dysmorphias and minor physical anomalies tended to be more frequent in the chromosomally deviant subgroup. No differences in demographic characteristics or parental ages were evident. Results are consistent with the view of variability of expression of marker chromosome deviations and a greater severity of retardation and symptoms of autism in those affected. The relevance of the findings to a multimodal genetic etiology of autistic disorder is discussed.
- American Psychiatric Association. (1980). Diagnostic and statistical manual of mental disorders (3rd ed.). Washington, DC: American Psychiatric Association.
- American Psychiatric Association. (1987). Diagnostic and statistical manual of mental disorders (3rd ed., Rev.). Washington, DC: American Psychiatric Association.
- Bailey, A., Phillips, W., & Rutter, M. (1996). Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37, 89-126.
- Bender, B. G., Linden, M. G., & Robinson, A. (1987). Environmental and developmental risk in children with sex chromosome abnormalities. Journal of the American Academy of Child and Adolescent Psychiatry, 26, 499-503.
- Blishen, B. R., & McRoberts, H. A. (1976). A revised socioeconomic index for occupations in Canada. Canadian Review of Sociology and Anthropology, 13, 71-79.
- Bristol, M., Cohen, D. J., Castello, E. J., Denzla, M., Eckberg, T. J., Kallen, R., Kraemer, H. C., Lord, C., Maurer, R., McIlvane, W. J., Miushew, N., Sigman, M., & Spence, M. A. (1996). State of the science in autism: Report to the National Institutes of Health. Journal of Autism and Developmental Disorders 26, 121-154.
- Collacot, R. A., Mitchell, C., Dawes-Gamble L., Young, I., & Duckett, D. (1990). Brief Report: A 48XXXY/49XXXXY male with expressive speech defect. Journal of Autism and Developmental Disorders, 20, 577-580.
- Dunn, L. M. (1981). Peabody Picture Vocabulary Test. Circle Pines, MN: American Guidance Service.
- Ghaziuddin, M., Sheldon, S., Tsai, L. Y., & Alessi, N. (1993). Abnormalities of chromosome 18 in a girl with mental retardation and autistic disorder. Journal of Intellectual Disability Research 37, 313-317.
- Gillberg, C., Steffenburg, S., Wahlstrom, J., Gillberg, J. C., Sjostedt, A., Gilberg, I. C., Martinsson, T., Liedgren, S., & Eeg-Olofsson, O. (1991). Autism associated with a marker chromosome. Journal of the American Academy of Child and Adolescent Psychiatry, 30, 489-494.
- Herault, J., Martineau, J., Petit, E., Perrot, A., Sauvage, D., Barthélémy, C., Mallet, J., Müh, J. P., & Lelord, G. (1994). Letters to the Editor: Genetic markers in autism: Association study on short arm of chromosome 11. Journal of Autism and Developmental Disorders, 24, 233-236.
- Hotopf, M., & Bolton, P. (1995). A case of autism associated with partial tetrasomy 15. Journal of Autism and Developmental Disorders, 25, 41-49.
- Judd, L. L., & Mandell, A. J., (1968). Chromosome studies in early infantile autism. Archives of General Psychiatry, 18, 450-457.
- Kerbeshian, J., Burd, L, Randall, T., & Martsolf, J. (1990). Autism, profound mental retardation and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12. Journal of Mental Deficiency Research, 34, 205-210.
- Konstantareas, M. M. (1986). Early developmental backgrounds of mentally retarded and autistic retarded children. In C. Stavrakaki (Ed.), Psychiatric Clinics of North America (pp. 671-688). London: N. B. Saunders.
- Leiter, R. (1969). The Leiter International Performance Scale. Chicago: Stoeling.
- Lopreiatio, J. O., & Wulfsberg, E. A. (1992). A complex chromosome rearrangement in a boy with autism. Journal of Developmental and Behavioural Pediatrics, 13, 281-283.
- Lowe, M., & Costello, A. (1976). Manual of symbolic play test. Windsor, UK: NFER.
- Mariner, R., Jackson, A. W., Levitas, A., Hagerman, R. J., Braden, M., MeBogg, P. M., Berry, R., & Smith, A. C. M. (1986). Autism, mental retardation and chromosomal abnormalities. Journal of Autism and Developmental Disorders, 16, 425-440.
- Reynell, J. K. (1978). Manual for the Reynnel Developmental Language Scales (Revised). Windsor, UK: NFER-Nelson.
- Robinson, W. P., Binkert, F., Gine, R., Vanquez, C., Muller, W. et al., (1993). Clinical and molecular analysis of five inv sup(15) patients. European Journal of Human Genetics, 1, 37-50.
- Rutter, M. (1996). Autism research: Prospects and priorities. Journal of Autism and Development Disorders, 26, 257-275.
- Sankar, D. V. S. (1970). Chromosome breakage in infantile autism. Developmental Medicine and Child Neurology, 12, 572-575.
- Schopler, E., Reichler, R. J., DeVellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). Journal of Autism and Developmental Disorders, 10, 91-103.
- Seshadri, K., Wallerstein, R., & Burack, G. (1992). 18 q-chromosomal abnormality in a phenotypically normal 2 1/2-year-old male with autism. Developmental Medicine and Child Neurology, 34, 999-1009.
- Simonoff, E., Bolton, P., & Rutter, M. (1996). Mental retardation: Genetic findings, clinical implications and research. Journal of Child Psychology and Psychiatry, 37, 259-280.
- Steffenberg, S., & Gillberg, C. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30, 405-416.
- Urzgiris, I., & Hunt, J. (1975). Assessment in infancy: Ordinal scales of psychological development. Urbana: The University of Illinois Press.
- Waldrop, M., & Halverson, C. E. (1971). Minor physical anomalies and hyperactive behaviour in young children. In J. Hellmuth (Ed.), Exceptional infant: Vol. 2. Studies of abnormalities (pp. 343-380). New York: Brunner/Mazel.
- Chromosomal Abnormalities in a Series of Children with Autistic Disorder
Journal of Autism and Developmental Disorders
Volume 29, Issue 4 , pp 275-285
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