Autism spectrum disorder: advances in diagnosis and evaluation

L Zwaigenbaum, M Penner - Bmj, 2018 - bmj.com
Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is
generally associated with substantial disability throughout the lifespan. Recent advances …

Progress in the genetics of autism spectrum disorder

M Woodbury‐Smith, SW Scherer - Developmental Medicine & …, 2018 - Wiley Online Library
A genetic basis for autism spectrum disorder (ASD) is now well established, and with the
availability of high‐throughput microarray and sequencing platforms, major advances have …

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

RK C Yuen, D Merico, M Bookman, JL Howe… - Nature …, 2017 - nature.com
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder

K Tammimies, CR Marshall, S Walker, G Kaur… - Jama, 2015 - jamanetwork.com
Importance The use of genome-wide tests to provide molecular diagnosis for individuals
with autism spectrum disorder (ASD) requires more study. Objective To perform …

Genome-wide characteristics of de novo mutations in autism

RKC Yuen, D Merico, H Cao, G Pellecchia… - NPJ genomic …, 2016 - nature.com
De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far
analyses have mainly been on the~ 1.5% of the genome encoding genes. Here, we …

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

BA Fernandez, SW Scherer - Dialogues in clinical neuroscience, 2017 - Taylor & Francis
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions
diagnosed solely on the basis of behavioral assessments that reveal social deficits …

Evidence-based support for autistic people across the lifespan: Maximising potential, minimising barriers, and optimising the person–environment fit

MC Lai, E Anagnostou, M Wiznitzer, C Allison… - The Lancet …, 2020 - thelancet.com
Autism is both a medical condition that gives rise to disability and an example of human
variation that is characterised by neurological and cognitive differences. The goal of …

Risk factors for unhealthy weight gain and obesity among children with autism spectrum disorder

KK Dhaliwal, CE Orsso, C Richard, AM Haqq… - International journal of …, 2019 - mdpi.com
Autism Spectrum Disorder (ASD) is a developmental disorder characterized by social and
communication deficits and repetitive behaviors. Children with ASD are also at a higher risk …

Standards of diagnostic assessment for autism spectrum disorder

JA Brian, L Zwaigenbaum, A Ip - Paediatrics & child health, 2019 - academic.oup.com
The rising prevalence of autism spectrum disorder (ASD) has created a need to expand ASD
diagnostic capacity by community-based paediatricians and other primary care providers …

Early detection for autism spectrum disorder in young children

L Zwaigenbaum, JA Brian, A Ip - Paediatrics & Child Health, 2019 - academic.oup.com
Autism spectrum disorder (ASD) is a life-long neurodevelopmental disorder, characterized
by impairments in social communication, repetitive, restricted patterns of behaviour, and …