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Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres.
Methods: Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities.
Results: One hundred and eighty-one cases were diagnosed according to International Classification of Diseases - version 10 criteria as having an autism spectrum disorder (autistic-like Pervasive Developmental Disorder) and 40 cases as having other disorders. Twenty-one (11.6%) of the children with autism spectrum disorders had a possibly causal condition compared with six (15%) of the children with other diagnoses. One child with an autism spectrum disorder had a paternally inherited familial duplication of 15q11-13. The pattern of genotype-phenotype correlation within the family indicated that this form of abnormality might carry a risk for developmental difficulties, although the risk did not appear to be specific for autism spectrum disorders.
Conclusion: The overall rate of possibly causal medical and cytogenetic conditions in children with autism spectrum disorders was low and no different from the rate of disorder in children with other developmental/neuropsychiatric disorders that attended the same clinics. Further research is required to determine whether paternal duplication of 15q11-13 gives rise to adverse developmental outcomes.
0955-8829
131-137
Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Weisblatt, Emma
cbed4859-b778-4328-9436-f23a6ae53562
Holmes, Joanne R.
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Thomas, Simon N.
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Youings, Sheila A.
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Thompson, Russell J.
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Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Dennis, Nicolas R.
154aa617-52e2-4711-98ef-89fef8610de7
Browne, Caroline E.
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Goodson, Sally
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Moore, Vanessa
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Brown, Josie
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Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Weisblatt, Emma
cbed4859-b778-4328-9436-f23a6ae53562
Holmes, Joanne R.
f12b78a1-02b6-4a70-89b3-8f7a6064ad86
Thomas, Simon N.
6aac3e46-688d-4ad8-81ed-b7a667f4f20d
Youings, Sheila A.
8d6377a2-da80-4d54-9956-9b0deca6debe
Thompson, Russell J.
4f73d649-4980-45c7-9c05-0090683ebb20
Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Dennis, Nicolas R.
154aa617-52e2-4711-98ef-89fef8610de7
Browne, Caroline E.
46d899d9-3e5f-412d-9c03-cf9987a5c0d4
Goodson, Sally
7a122e5c-3828-4446-8263-7667695621b4
Moore, Vanessa
c64bbb54-75b4-4ef2-b2d8-658f33f1ce03
Brown, Josie
3fba2bf5-a246-4266-b3ae-3780fef77e34

Bolton, Patrick F., Veltman, Marijcke W.M., Weisblatt, Emma, Holmes, Joanne R., Thomas, Simon N., Youings, Sheila A., Thompson, Russell J., Roberts, Sian E., Dennis, Nicolas R., Browne, Caroline E., Goodson, Sally, Moore, Vanessa and Brown, Josie (2004) Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatric Genetics, 14 (3), 131-137.

Record type: Article

Abstract

Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres.
Methods: Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities.
Results: One hundred and eighty-one cases were diagnosed according to International Classification of Diseases - version 10 criteria as having an autism spectrum disorder (autistic-like Pervasive Developmental Disorder) and 40 cases as having other disorders. Twenty-one (11.6%) of the children with autism spectrum disorders had a possibly causal condition compared with six (15%) of the children with other diagnoses. One child with an autism spectrum disorder had a paternally inherited familial duplication of 15q11-13. The pattern of genotype-phenotype correlation within the family indicated that this form of abnormality might carry a risk for developmental difficulties, although the risk did not appear to be specific for autism spectrum disorders.
Conclusion: The overall rate of possibly causal medical and cytogenetic conditions in children with autism spectrum disorders was low and no different from the rate of disorder in children with other developmental/neuropsychiatric disorders that attended the same clinics. Further research is required to determine whether paternal duplication of 15q11-13 gives rise to adverse developmental outcomes.

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Published date: 2004

Identifiers

Local EPrints ID: 24632
URI: https://eprints.soton.ac.uk/id/eprint/24632
ISSN: 0955-8829
PURE UUID: dfde5781-b196-4832-9674-ce22254649cd

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Date deposited: 04 Apr 2006
Last modified: 17 Jul 2017 16:13

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Contributors

Author: Patrick F. Bolton
Author: Marijcke W.M. Veltman
Author: Emma Weisblatt
Author: Joanne R. Holmes
Author: Simon N. Thomas
Author: Sheila A. Youings
Author: Russell J. Thompson
Author: Sian E. Roberts
Author: Nicolas R. Dennis
Author: Caroline E. Browne
Author: Sally Goodson
Author: Vanessa Moore
Author: Josie Brown

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