PT  - JOURNAL ARTICLE
AU  - Sebastian GW. Urchs
AU  - Hien Duy Nguyen
AU  - Clara Moreau
AU  - Christian Dansereau
AU  - Angela Tam
AU  - Alan C. Evans
AU  - Pierre Bellec
TI  - Reproducible functional connectivity endophenotype confers high risk of ASD diagnosis in a subset of individuals
AID  - 10.1101/2020.06.01.127688
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 2020.06.01.127688
4099  - http://biorxiv.org/content/early/2020/06/02/2020.06.01.127688.short
4100  - http://biorxiv.org/content/early/2020/06/02/2020.06.01.127688.full
AB  - Functional connectivity (FC) analyses of individuals with autism spectrum disorder (ASD) have established robust alterations of brain connectivity at the group level. Yet, the translation of these imaging findings into robust markers of individual risk is hampered by the extensive heterogeneity among ASD individuals. Here, we report an FC endophenotype that confers a greater than 7-fold risk increase of ASD diagnosis, yet is still identified in an estimated 1 in 200 individuals in the general population. By focusing on a subset of individuals with ASD and highly predictive FC alterations, we achieved a greater than 3-fold increase in risk over previous predictive models. The identified FC risk endophenotype was characterized by underconnectivity of transmodal brain networks and generalized to independent data. Our results demonstrate the ability of a highly targeted prediction model to meaningfully decompose part of the heterogeneity of the autism spectrum. The identified FC signature may help better delineate the multitude of etiological pathways and behavioural symptoms that challenge our understanding of the autism spectrum.Competing Interest StatementThe authors have declared no competing interest.