Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Identification, evaluation, and management of children with autism spectrum disorder

SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
OBJECTIVE. This study explored parents' perceptions about their child's appearance and
health and evaluated a tool to determine parents' visual perception of their child's weight …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - pnas.org
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

Annual research review: Looking back to look forward–changes in the concept of autism and implications for future research

F Happé, U Frith - Journal of Child Psychology and Psychiatry, 2020 - Wiley Online Library
The concept of autism is a significant contribution from child psychiatry that has entered
wider culture and public consciousness, and has evolved significantly over the last four …

New evidences on the altered gut microbiota in autism spectrum disorders

F Strati, D Cavalieri, D Albanese, C De Felice, C Donati… - Microbiome, 2017 - Springer
Abstract Background Autism spectrum disorders (ASDs) are neurodevelopmental conditions
characterized by social and behavioural impairments. In addition to neurological symptoms …

A qualitative exploration of the female experience of autism spectrum disorder (ASD)

V Milner, H McIntosh, E Colvert, F Happé - Journal of autism and …, 2019 - Springer
Autism spectrum disorder is thought to be a predominantly male diagnosis, however recent
research suggests a smaller gender disparity in prevalence than previously assumed …

The changing epidemiology of autism spectrum disorders

K Lyall, L Croen, J Daniels, MD Fallin… - Annual review of …, 2017 - annualreviews.org
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong
impacts. Genetic and environmental factors contribute to ASD etiology, which remains …

An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity

E Masini, E Loi, AF Vega-Benedetti, M Carta… - International journal of …, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019 - cell.com
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

Heritability of autism spectrum disorders: a meta‐analysis of twin studies

B Tick, P Bolton, F Happé, M Rutter… - Journal of Child …, 2016 - Wiley Online Library
Background The etiology of Autism Spectrum Disorder (ASD) has been recently debated
due to emerging findings on the importance of shared environmental influences. However …