Descrizione del progetto
Comprendere l’autismo per sviluppare trattamenti di precisione
L’autismo è una patologia complessa caratterizzata da un’eterogeneità notevole. Per sviluppare interventi più efficaci, sono necessari modelli che chiariscano le distinzioni significative all’interno dell’autismo. Il progetto AUTISMS-3D, finanziato dall’UE, si propone di creare e collaudare il modello AUTISMS-3D, concepito per spiegare la diversità all’interno della popolazione autistica distinguendo tra disabilità e differenze negli esiti dello sviluppo. Secondo AUTISMS-3D, la divisione principale all’interno della popolazione autistica è tra i sottotipi che mostrano una disabilità significativa e quelli che presentano differenze negli esiti dello sviluppo. Il progetto utilizzerà misure cliniche standardizzate per stabilire modelli di stratificazione per la previsione dei sottotipi di autismo. La ricerca mira a migliorare la comprensione dell’autismo e a facilitare la medicina di precisione per il suo trattamento.
Obiettivo
Autism is an early developing condition diagnosed on the basis of difficulties in the domains of social-communication and restricted repetitive behaviors. However, the single label of ‘autism’ masks a large degree of heterogeneity at multiple scales, from genome to phenome, and may not signal differential needs and services required for some types of profoundly affected individuals. In order to better understand autism and develop more impactful ways to facilitate positive outcomes at an individualized-level, we need better models that help to explain how autism may be differentiated in meaningful ways that help explain variability in developmental paths, responses to treatment, and differential underlying neurobiological mechanisms. This research program develops and tests the AUTISMS-3D model – disability versus difference over development - as a first-level major distinction for explaining heterogeneity within the autism population. AUTISMS-3D postulates that the major first-level split within the autism population is between subtypes described by profound disability versus difference in developmental outcomes. Stratification models using standardized clinical measures of intellectual functioning, language, and adaptive behavior will be used to predict ‘disability’ versus ‘difference’ subtypes. These stratification models are based on highly reproducible data-driven clustering analyses from very large phenotypic datasets. We will then test how the subtypes may develop differently with analyses of big clinical longitudinal datasets and also within the context of early intervention. Finally, we will test the subtypes for neurobiological differences via neuroimaging (MRI, fMRI, DTI) and electrophysiological (EEG) and gaze phenotypes (e.g. eye tracking) under static and naturalistic viewing conditions. The research will help refine our understanding and concepts of autism and will be an important next step on the path to precision medicine for the autisms.
Campo scientifico
Parole chiave
Programma(i)
- HORIZON.1.1 - European Research Council (ERC) Main Programme
Argomento(i)
Meccanismo di finanziamento
HORIZON-ERC - HORIZON ERC GrantsIstituzione ospitante
16163 Genova
Italia