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


CONCLUSIONS
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.
Bolton
Patrick F
PF
Department of Child Psychiatry & MRC Centre for Social, Genetic & Developmental Psychiatry, The Institute of Psychiatry, Kings College, London, UK. p.bolton@iop.kcl.ac.uk
Veltman
Marijcke W M
MW
Weisblatt
Emma
E
Holmes
Joanne R
JR
Thomas
N Simon
NS
Youings
Sheila A
SA
Thompson
Russell J
RJ
Roberts
Siân E
SE
Dennis
Nicholas R
NR
Browne
Caroline E
CE
Goodson
Sally
S
Moore
Vanessa
V
Brown
Josie
J
D001321:Autistic Disorder / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D001519:Behavior; D002648:Child; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male
D004247:DNA