Delineating more homogeneous subgroups within an autism spectrum disorder sample, based on neurocognitive endophenotype measures
Year: 2012
Type: article
Study design: Study Protocol
Abstract: The Leuven Autism Research (LAuRes) consortium tries to unravel pathways between genes and behaviour in autism spectrum disorders (ASDs). One strategy for achieving this goal is by searching for ASD endophenotypes. Although twin studies indicate that genetic mechanisms explain almost 90% of the variance of ASD, insight in the etiology is still limited, mainly due to considerable heterogeneity characterizing the ASD population. This large heterogeneity stimulates the search for more ‘genetically informative phenotypes’ or ‘endophenotypes’ that allow us to delineate more genetically homogeneous subgroups. Endophenotypes are phenotypes that are more proximal to the biological etiology of a clinical disorder than its signs and symptoms and influenced by one or more of the same genes that confer susceptibility to the condition. Potentially interesting ASD endophenotypes are neurocognitive measures of executive functioning and local and global processing. The aim of our study is to investigate whether these measures provide good ASD endophenotypes by administering a large test battery measuring these abilities from ASD probands, their first degree relatives and typically developing controls. One more specific research question is whether the affected population (ASD probands and their relatives) could be subdivided into more homogeneous subgroups based on their neurocognitive test performance. This will be examined by first applying factor analysis to investigate the latent structure of our test battery and to reduce the number of variables by calculating factor scores, followed by cluster analysis on these factor scores. Since data collection was finished only recently, the rationale behind the study, the protocol and the general ideas for data analysis will be discussed.
Source: Lirias
Language: English
Subfield: Cognitive Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2521611422