ArticleJournal of autism and developmental disorders2017
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.
Article in Journal of autism and developmental disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.American journal on intellectual and developmental disabilities · 2025Article
- Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.Autism research : official journal of the International Society for Autism Research · 2025Article
- Attainment and loss of early social-communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study.Journal of child psychology and psychiatry, and allied disciplines · 2024Article
- Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- The Role ofInternational journal of molecular sciences · 2023Article
- Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.World journal of pediatrics : WJP · 2023Review
- Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future.Genes, brain, and behavior · 2022Review
- Gene editing in monogenic autism spectrum disorder: animal models and gene therapies.Frontiers in molecular neuroscience · 2022Review
- A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.BMC medical genomics · 2021Article
- Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder.Development and psychopathology · 2020Article
- Article
- Changing conceptualizations of regression: What prospective studies reveal about the onset of autism spectrum disorder.Neuroscience and biobehavioral reviews · 2019Review
- Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms.Autism research : official journal of the International Society for Autism Research · 2018Review
- Widespread Genotype-Phenotype Correlations in Intellectual Disability.Frontiers in psychiatry · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses.
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.