Change search
ReferencesLink to record
Permanent link

Direct link
Rare copy number variants are common in young children with autism spectrum disorder
Stockholm University, Faculty of Social Sciences, Department of Psychology.
Show others and affiliations
Number of Authors: 9
2015 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 104, no 6, 610-618 p.Article in journal (Refereed) Published
Abstract [en]

AimSeveral studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. MethodsWe performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54months of age. ResultsPathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. ConclusionOur results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole-exome and whole-genome sequencing technologies in clinical genetic testing.

Place, publisher, year, edition, pages
2015. Vol. 104, no 6, 610-618 p.
Keyword [en]
Autism, Autism spectrum disorder, Chromosomal microarray, Copy number variants
National Category
Psychiatry Pediatrics Psychology
URN: urn:nbn:se:su:diva-118334DOI: 10.1111/apa.12969ISI: 000354528100021OAI: diva2:823545
Available from: 2015-06-18 Created: 2015-06-15 Last updated: 2015-06-18Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Westerlund, Joakim
By organisation
Department of Psychology
In the same journal
Acta Paediatrica

Search outside of DiVA

GoogleGoogle ScholarTotal: 1 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 59 hits
ReferencesLink to record
Permanent link

Direct link