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Genetic deviations and other medical conditions in children with early diagnosis of autism spectrum disorder

Participants: Mats Eriksson, Elisabeth Fernell, Christopher Gillberg, Åsa Hedvall Lundholm, BrittMarie Anderlid, Per Åmark & Joakim Westerlund.

Background: Medical conditions and genetic disorders are currently identified in about 15 % in children with autism spectrum disorders (ASD). A new method was introduced in 2007 that identifies aberrations in the number of DNA-copies in affected individuals. The method is called array-CGH and identifies Copy Number Variants.

In children with autism spectrum disorder (ASD) epilepsy is often also present and the prevalence increases with age. The risk of a child with ASD also suffering from epilepsy is strongly related to the severity of cognitive disability, but even in children with ASD and normal intelligence, the prevalence of epilepsy is higher than in children in general. In children with epilepsy, autism spectrum disorder is also identified to an increased extent – the risk is particularly great for children with early-onset epilepsy and structural changes in the brain.

Method: The study describes the occurrence of medical and genetic conditions in 208 preschool children with early diagnosis of autism spectrum disorder (ASD). The children were between 20 and 54 months of age at the beginning of the study. The children were followed over a two-year period. In order to identify the causes of the child's symptoms medical information has been collected from parents and records and genetic analyses with array–CGH and other methods have been conducted. The studies also investigated some prenatal ASD risk factors.

Results: Some prenatal risk factors were shown to increase the risk of ASD; high paternal age, non-European origin and maternal medication with antidepressant medication or other psychoactive medication. Scheduled caesarean section was also more common in AST children than in controls.

18% of the children with early diagnosed ASD were found to have some kind of medical condition. At the beginning of the study, epilepsy was indicated in 6 % and in 9% at the two-year follow-up. In slightly more than 40 % of these cases there was a clear cause of epilepsy. It was more common for girls to have epilepsy in addition to ASD; 12.5%, in boys 7.9%. In children with ASD and intellectual disability, epilepsy was prevalent in 15%. Children with ASD with regression did not have epilepsy more often than children without regression.
With the use of array-CGH, pathogenic CNVs were found in 8.6 % of ASD 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.


Eriksson, M.A., Liedén, A., Westerlund, J., Bremer, A., Wincent, J., Sahlin, E., ... Anderlid, B.M. Rare copy number variants are common in young children with autism spectrum disorders. Acta Paediatrica, (Epub ahead of print).


Eriksson, M.A., Westerlund, J., Hedvall, Å., Åmark, P., Gillberg, C., & Fernell, E. (2013). Medical conditions affect the outcome of early intervention in preschool children with autism spectrum disorders. European Child and Adolescent Psychiatry, 22, 23-33.


Eriksson, M.A., Westerlund, J., Anderlid, B.M., Gillberg, C., & Fernell, E. (2012). First-degree relatives of young children with autism spectrum disorders: some gender aspects. Research in Developmental Disabilities, 33, 1642-1648.


Fernell, E., Hedvall, Å., Norrelgen, F., Eriksson, M., Höglund-Carlsson, L., Barnevik-Olsson, M., … Gillberg, C. (2010). Developmental profiles in preschool children with autism spectrum disorders referred for intervention. Research in Developmental Disabilities, 31, 790-799.

Page Manager: Anna Spyrou|Last update: 4/15/2015

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