WP 2.5 : Pathologies du spectre autistique et déficience intellectuelles, aspect génomiques et cliniques

Coordonnateur: Carmen M. Schroder

Co-coordonnateur: Amélie Piton

General scopes and previous achievements:

ASD and ID are overlapping, highly prevalent (1-2%) neurodevelopmental disorders characterized by significant clinical heterogeneity and complex developmental trajectories. To date, these features limited the identification of: i) genes and molecular mechanisms; ii) pathophysiological mechanisms involved in mediating longitudinal trajectories and clinical outcome. Clinical research has been performed at the Dpt of Child and Adolescent Psychiatry, a centre of expertise for ASD. Ongoing studies aim to reveal individual trajectories in children with ASD (+/-ID), in order to define predictors of clinical outcomes. Among the latter, sleep and circadian rhythm disturbances have significant impact on neurodevelopmental outcomes and are a main research axis of child psychiatric and CNRS teams (in interaction with WP1.2., TMT4 and Platform5). Fundamental research has been conducted in order to identifying new genes and molecular mechanisms in ASD and/or ID and developing tools to improve the molecular diagnosis, through the pioneering work of the Department for neurogenetic and Translational Medicine (IGBMC). Both departments were co-founders in 2012 of S.T.R.A.S. autisme, a network for translational research on
autism gathering regional teams aiming to develop interdisciplinary research and disseminate knowledge for scientific community and general public.

Future projects in NEUROGENYCS:

In a translational approach, ID, ASD and associated symptoms and circadian rhythm disorders will be evaluated in coordination with NEUROGENYCS platforms and we will perform: 1) Collection and correlation of developmental, behavioural, psychiatric, neurological(MRI), sleep and circadian rhythms and genetic data. 2) Creation of a database for specific genetic causes of ID/ASD in a social network format to identify relevant information for individualized medical care. 3) Development of efficient molecular diagnostic tools; 4) Identification of new genes and molecular mechanisms involved. 5) Therapeutic interventions (developmental interventions; sleep and circadian disorder treatments).