ArticleProceedings of the National Academy of Sciences of the United States of America2014
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
82 citing papers in PubMed, 152 citations in OpenAlex.
- Article
- Proximity of Maternal Time of Immigration to Child's Birth Is Associated With Autism Spectrum Disorder With Early Learning Delay Among Immigrant Populations in the United States: Findings From the Study to Explore Early Development.Autism research : official journal of the International Society for Autism Research · 2025Article
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Maternal Serotonin Levels and Neurodevelopmental Severity in Autistic Children: A Partial Replication and Extension.JAACAP open · 2025Article
- Associations of Characteristics of Parental Country of Birth with Autism Spectrum Disorder and Early Learning Delay Among Immigrant Populations in the US: Findings from the Study to Explore Early Development.Journal of autism and developmental disorders · 2025Article
- The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism.Biological reviews of the Cambridge Philosophical Society · 2025Review
- Family history of psychiatric conditions and development of siblings of children with autism.Autism research : official journal of the International Society for Autism Research · 2024Article
- Phenotypic and ancestry-related assortative mating in autism.Molecular autism · 2024Article
- Profiles of minimally verbal autistic children: Illuminating the neglected end of the spectrum.Autism research : official journal of the International Society for Autism Research · 2024Article
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.NPJ genomic medicine · 2024Article
- Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.Research square · 2023Article
- Brief Report: Alexithymia Trait Severity, Not Autistic Trait Severity, Relates to Caregiver Reactions to Autistic Children's Negative Emotions.Journal of autism and developmental disorders · 2023Article
- 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
- Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review.Journal of speech, language, and hearing research : JSLHR · 2023Article
- Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health.European journal of human genetics : EJHG · 2022Article
- DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.Patterns (New York, N.Y.) · 2022Article
- Genomics, convergent neuroscience and progress in understanding autism spectrum disorder.Nature reviews. Neuroscience · 2022Review
- Childhood infections and autism spectrum disorders and/or intellectual disability: a register-based cohort study.Journal of neurodevelopmental disorders · 2022Article
- Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism.Autism research : official journal of the International Society for Autism Research · 2022Article
- A family study implicates GBE1 in the etiology of autism spectrum disorder.Human mutation · 2022Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Autism spectrum disorders (ASDs) are a highly heterogeneous group of conditions--phenotypically and genetically--although the link between phenotypic variation and differences in genetic architecture is unclear. This study aimed to determine whether differences in cognitive impairment and symptom severity reflect variation in the degree to which ASD cases reflect de novo or familial influences. Using data from more than 2,000 simplex cases of ASD, we examined the relationship between intelligence quotient (IQ), behavior and language assessments, and rate of de novo loss of function (LOF) mutations and family history of broadly defined psychiatric disease (depressive disorders, bipolar disorder, and schizophrenia; history of psychiatric hospitalization). Proband IQ was negatively associated with de novo LOF rate (P = 0.03) and positively associated with family history of psychiatric disease (P = 0.003). Female cases had a higher frequency of sporadic genetic events across the severity distribution (P = 0.01). High rates of LOF mutation and low frequencies of family history of psychiatric illness were seen in individuals who were unable to complete a traditional IQ test, a group with the greatest degree of language and behavioral impairment. These analyses provide strong evidence that familial risk for neuropsychiatric disease becomes more relevant to ASD etiology as cases become higher functioning. The findings of this study reinforce that there are many routes to the diagnostic category of autism and could lead to genetic studies with more specific insights into individual cases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.