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PMID: 18234079 Published · epublish English Journal Article

Relationship between endophenotype and phenotype in ADHD.

Behavioral and brain functions : BBF ·Vol. 4 ·2008-01-30 ·Pages 4

Rommelse NNj, Altink ME, Martin NC, Buschgens CJ, Faraone SV, Buitelaar JK, Sergeant JA, Oosterlaan J

Abstract

It has been hypothesized that genetic and environmental factors relate to psychiatric disorders through the effect of intermediating, vulnerability traits called endophenotypes. The study had a threefold aim: to examine the predictive validity of an endophenotypic construct for the ADHD diagnosis, to test whether the magnitude of group differences at the endophenotypic and phenotypic level is comparable, and to investigate whether four factors (gender, age, IQ, rater bias) have an effect (moderation or mediation) on the relation between endophenotype and phenotype. Ten neurocognitive tasks were administered to 143 children with ADHD, 68 non-affected siblings, and 120 control children (first-borns) and 132 children with ADHD, 78 non-affected siblings, and 113 controls (second-borns) (5 - 19 years). The task measures have been investigated previously for their endophenotypic viability and were combined to one component which was labeled 'the endophenotypic construct': one measure representative of endophenotypic functioning across several domains of functioning. The endophenotypic construct classified children with moderate accuracy (about 50% for each of the three groups). Non-affected children differed as much from controls at the endophenotypic as at the phenotypic level, but affected children displayed a more severe phenotype than endophenotype. Although a potentially moderating effect (age) and several mediating effects (gender, age, IQ) were found affecting the relation between endophenotypic construct and phenotype, none of the effects studied could account for the finding that affected children had a more severe phenotype than endophenotype. Endophenotypic functioning is moderately predictive of the ADHD diagnosis, though findings suggest substantial overlap exists between endophenotypic functioning in the groups of affected children, non-affected siblings, and controls. Results suggest other factors may be crucial and aggravate the ADHD symptoms in affected children.

Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Rommelse Nanda Nj
Department of Clinical Neuropsychology, VU University Amsterdam, Van der Boechorststraat 1, 1081 BT Amsterdam, The Netherlands. [email protected].
Altink Marieke E
Martin Neilson C
Buschgens Cathelijne Jm
Faraone Stephen V
Buitelaar Jan K
Sergeant Joseph A
Oosterlaan Jaap
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Article Info
Journal
Behavioral and brain functions : BBF
Abbr.
Behav Brain Funct
ISSN
1744-9081
DOI
10.1186/1744-9081-4-4
Email
[email protected]
Published
2008-01-30
Epub
2008-00-30
Pages
4
Language
English
Region
England
NLM ID
101245751
PMCID
PMC2267799
External Links
PubMed source DOI: 10.1186/1744-9081-4-4 PMC Full Text View journal details
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