ORIGINAL ARTICLES

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

Bolton, Patrick F.a b; Veltman, Marijcke W. M.b; Weisblatt, Emmab; Holmes, Joanne R.b; Thomas, N. Simonc d; Youings, Sheila A.c d; Thompson, Russell J.b; Roberts, Siân E.c d; Dennis, Nicholas R.d e; Browne, Caroline E.c; Goodson, Sallyf; Moore, Vanessaf; Brown, Josiee

Author Information

aDepartment of Child Psychiatry & MRC Centre for Social, Genetic & Developmental Psychiatry, The Institute of Psychiatry, Kings College, London

bSection of Developmental Psychiatry, University of Cambridge, Cambridge, UK

cWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK

dDepartment of Human Genetics, University of Southampton, Southampton, UK

eWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK

fPaediatric Medical Unit, Southampton General Hospital, Southampton, UK

Sponsorship: This research was supported by an MRC programme grant to Pat Jacobs, Patrick Bolton, Nick Dennis and colleagues.

Address correspondence to Patrick F. Bolton, Phd FRCPsych., Professor of Child & Adolescent Psychiatry, Child Psychiatry Department & MRC Centre for Social, Genetic & Developmental Psychiatry, Box PO 43, The Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF

Tel: +44 (0)20 7848 5325/5256; fax: +44 (0)20 7848 0866;

e-mail: [email protected]

Received 7 November 2002 Accepted 12 August 2002

Psychiatric Genetics 14(3):p 131-137, September 2004.

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.

© 2004 Lippincott Williams & Wilkins, Inc.

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