ArticleProceedings of the National Academy of Sciences of the United States of America2018
Damaging de novo mutations diminish motor skills in children on the autism spectrum.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed.
- Early motor trajectories in infants at increased genetic likelihood for autism.Frontiers in developmental psychology · 2026Article
- Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.Pediatric research · 2025Article
- Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform.Genome research · 2025Article
- Maternal Serotonin Levels and Neurodevelopmental Severity in Autistic Children: A Partial Replication and Extension.JAACAP open · 2025Article
- Sensory-movement underpinnings of lifelong neurodivergence: getting a grip on autism.Frontiers in integrative neuroscience · 2025Article
- Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.Frontiers in psychiatry · 2025Article
- Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders.Nature communications · 2024Article
- Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.Genome medicine · 2024Article
- Sensorimotor variability distinguishes early features of cognition in toddlers with autism.iScience · 2024Article
- Enhanced motor noise in an autism subtype with poor motor skills.Molecular autism · 2024Article
- Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.Journal of autism and developmental disorders · 2024Article
- Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism.Autism research : official journal of the International Society for Autism Research · 2023Article
- Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children.Brain sciences · 2023Review
- Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).Frontiers in neuroscience · 2023Article
- Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism.Noro psikiyatri arsivi · 2023Article
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Genetic correlates of phenotypic heterogeneity in autism.Nature genetics · 2022Article
- A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nature genetics · 2022Article
- Decoding disease: from genomes to networks to phenotypes.Nature reviews. Genetics · 2021Review
- Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.Journal of child psychology and psychiatry, and allied disciplines · 2021Article
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Authors and funding
7 authors.
Funding
Abstract
In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaired motor skills. This correlation is not explained by a correlation between IQ and motor skills. We find that IQ and motor skills are distinctly associated with damaging mutations and, in particular, that motor skills are a more sensitive indicator of mutational severity than is IQ, as judged by mutational type and target gene. We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of either), moderate (impairment mainly to motor skills), and severe (impairment of both IQ and motor skills).
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