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A cognitive endophenotype of autism in families with multiple incidence

Nydén, Agneta; Hagberg, Bibbi; Goussé, Véronique and Råstam, Maria LU (2011) In Res Autism Spectr Disord 5(1). p.191-200
Abstract
Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The purpose of the present study was to examine the neurocognitive endophenotype of autism, in families with multiple incidence autism. Eighty-sixmembers of 18 families containing at least two individuals with autism were neuropsychological

assessed. Children with autism, showed weak central coherence, but this ‘‘trait’’ could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits... (More)
Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The purpose of the present study was to examine the neurocognitive endophenotype of autism, in families with multiple incidence autism. Eighty-sixmembers of 18 families containing at least two individuals with autism were neuropsychological

assessed. Children with autism, showed weak central coherence, but this ‘‘trait’’ could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism – but not their other family

members – showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism. Our findings do not confirm the hypotheses of weak central coherence or deficits in theory of mind as part of the broader endophenotype of autism. Deficits in visual scanning may be a feature of the manifest phenotype of autism. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autism spectrum disorders, Cognitive endophenotype, Multiple incidence families, Sibpair, Autism
in
Res Autism Spectr Disord
volume
5
issue
1
pages
191 - 200
publisher
Elsevier
external identifiers
  • WOS:000283953800019
  • Scopus:77957345673
DOI
10.1016/j.rasd.2010.03.010
language
English
LU publication?
yes
id
3e62e081-f319-40b5-8c04-05ef32bb2788 (old id 1600372)
date added to LUP
2011-02-18 15:01:00
date last changed
2017-02-26 04:33:14
@article{3e62e081-f319-40b5-8c04-05ef32bb2788,
  abstract     = {Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The purpose of the present study was to examine the neurocognitive endophenotype of autism, in families with multiple incidence autism. Eighty-sixmembers of 18 families containing at least two individuals with autism were neuropsychological<br/><br>
assessed. Children with autism, showed weak central coherence, but this ‘‘trait’’ could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism – but not their other family<br/><br>
members – showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism. Our findings do not confirm the hypotheses of weak central coherence or deficits in theory of mind as part of the broader endophenotype of autism. Deficits in visual scanning may be a feature of the manifest phenotype of autism.},
  author       = {Nydén, Agneta and Hagberg, Bibbi and Goussé, Véronique and Råstam, Maria},
  keyword      = {Autism spectrum disorders,Cognitive endophenotype,Multiple incidence families,Sibpair,Autism},
  language     = {eng},
  number       = {1},
  pages        = {191--200},
  publisher    = {Elsevier},
  series       = {Res Autism Spectr Disord},
  title        = {A cognitive endophenotype of autism in families with multiple incidence},
  url          = {http://dx.doi.org/10.1016/j.rasd.2010.03.010},
  volume       = {5},
  year         = {2011},
}