Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach

N Bozhilova, A Welham, D Adams, S Bissell… - Molecular autism, 2023 - Springer
Background Phenotypic studies have identified distinct patterns of autistic characteristics in
genetic syndromes associated with intellectual disability (ID), leading to diagnostic …

Accuracy of phenotyping of autistic children based on internet implemented parent report

H Lee, AR Marvin, T Watson, J Piggot… - American Journal of …, 2010 - Wiley Online Library
While strong familial evidence supports a substantial genetic contribution to the etiology of
autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only …

Gene discoveries in autism are biased towards comorbidity with intellectual disability

M Jensen, C Smolen, S Girirajan - Journal of medical genetics, 2020 - jmg.bmj.com
Background Autism typically presents with highly heterogeneous features, including
frequent comorbidity with intellectual disability (ID). The overlap between these phenotypes …

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

M Arenella, G Cadby, W De Witte, RM Jones… - …, 2022 - journals.sagepub.com
The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic
study. Autism spectrum disorders symptoms occur in milder forms in the general population …

Behavioral signatures related to genetic disorders in autism

H Bruining, MJC Eijkemans, MJH Kas, SR Curran… - Molecular autism, 2014 - Springer
Background Autism spectrum disorder (ASD) is well recognized to be genetically
heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of …

Measuring autistic traits in the general population: a systematic review of the Autism-Spectrum Quotient (AQ) in a nonclinical population sample of 6,900 typical adult …

E Ruzich, C Allison, P Smith, P Watson, B Auyeung… - Molecular autism, 2015 - Springer
Abstract The Autism-Spectrum Quotient (AQ) is a self-report measure of autistic traits. It is
frequently cited in diverse fields and has been administered to adults of at least average …

Heritability of quantitative autism spectrum traits in adults: A family‐based study

SC Taylor, S Steeman, BN Gehringer, HC Dow… - Autism …, 2021 - Wiley Online Library
Autism spectrum disorder (ASD) comprises a multi‐dimensional set of quantitative
behavioral traits expressed along a continuum in autistic and neurotypical individuals. ASD …

A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism

J Carayol, GD Schellenberg, B Dombroski… - Frontiers in …, 2014 - frontiersin.org
Autism spectrum disorders (ASD) are highly heritable complex neurodevelopmental
disorders with a 4: 1 male: female ratio. Common genetic variation could explain 40–60% of …

Heterogeneity of autism characteristics in genetic syndromes: Key considerations for assessment and support

L Jenner, C Richards, R Howard, J Moss - Current developmental …, 2023 - Springer
Abstract Purpose of Review Elevated prevalence of autism characteristics is reported in
genetic syndromes associated with intellectual disability. This review summarises recent …

Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data‐driven …

E Bora, A Aydın, T Saraç, MT Kadak, S Köse - Autism Research, 2017 - Wiley Online Library
Clinical diagnosis of autism spectrum disorder (ASD) can be conceptualized as the extreme
end of the distribution of subclinical autistic traits related to genetic susceptibility factors …