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 …

Autism spectrum heterogeneity: fact or artifact?

L Mottron, D Bzdok - Molecular psychiatry, 2020 - nature.com
The current diagnostic practices are linked to a 20-fold increase in the reported prevalence
of ASD over the last 30 years. Fragmenting the autism phenotype into dimensional “autistic …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

The prevalence and characteristics of children with profound autism, 15 sites, United States, 2000-2016

MM Hughes, KA Shaw, M DiRienzo… - Public Health …, 2023 - journals.sagepub.com
Objectives: Autism spectrum disorder (autism) is a heterogeneous condition that poses
challenges in describing the needs of individuals with autism and making prognoses about …

Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Autistic identity: A systematic review of quantitative research

J Davies, K Cooper, E Killick, E Sam, M Healy… - Autism …, 2024 - Wiley Online Library
Autism can be considered both a personal and social identity. Identifying the factors
contributing to positive Autistic identity development is crucial given the potential …

[HTML][HTML] Insufficient evidence for “autism-specific” genes

SM Myers, TD Challman, R Bernier, T Bourgeron… - The American Journal of …, 2020 - cell.com
Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …

[HTML][HTML] Loneliness in autism and its association with anxiety and depression: A systematic review with meta-analyses

R Hymas, JC Badcock, E Milne - Review Journal of Autism and …, 2024 - Springer
Loneliness in Autism and Its Association with Anxiety and Depression: A Systematic Review
with Meta-Analyses | Review Journal of Autism and Developmental Disorders Skip to main …

Maternal infection during pregnancy and likelihood of autism and intellectual disability in children in Sweden: a negative control and sibling comparison cohort study

M Brynge, H Sjöqvist, RM Gardner, BK Lee… - The Lancet …, 2022 - thelancet.com
Background Maternal infections during pregnancy are associated with intellectual disability
and autism in exposed children. Whether these associations are causal, and therefore …

Editorial perspective: the autism waitlist crisis and remembering what families need

SM Kanne, SL Bishop - Journal of Child Psychology and …, 2021 - Wiley Online Library
Differential diagnosis of autism is very complex. Best practice guidelines in the US
encourage the use of specialized tools by a highly trained provider. The need for this …