ArticleJournal of medical genetics2020
Gene discoveries in autism are biased towards comorbidity with intellectual disability.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Article
- A Nomogram for Predicting ADHD and ASD in Child and Adolescent Mental Health Services (CAMHS).Journal of clinical medicine · 2024Article
- Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.Journal of autism and developmental disorders · 2024Article
- Bidirectional genetic overlap between autism spectrum disorder and cognitive traits.Translational psychiatry · 2023Article
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.Nature communications · 2022Article
- Can the "female protective effect" liability threshold model explain sex differences in autism spectrum disorder?Neuron · 2022Review
- Neurodevelopmental disorders: 2021 update.Free neuropathology · 2021Article
- Insufficient Evidence for "Autism-Specific" Genes.American journal of human genetics · 2020Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAutism typically presents with highly heterogeneous features, including frequent comorbidity with intellectual disability (ID). The overlap between these phenotypes has confounded the diagnosis and discovery of genetic factors associated with autism. We analysed pathogenic de novo genetic variants in individuals with autism who had either ID or normal cognitive function to determine whether genes associated with autism also contribute towards ID comorbidity.
methodsWe analysed 2290 individuals from the Simons Simplex Collection for de novo likely gene-disruptive (LGD) variants and copy-number variants (CNVs), and determined their relevance towards IQ and Social Responsiveness Scale (SRS) measures.
resultsIndividuals who carried de novo variants in a set of 173 autism-associated genes showed an average 12.8-point decrease in IQ scores (p=5.49×10
conclusionsPathogenic de novo variants disrupting autism-associated genes contribute towards autism and ID comorbidity, while other genetic factors are likely to be causal for high-functioning autism.
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