Evidence map›Paper›PMID 25629966›Full record

ArticleJournal of developmental and behavioral pediatrics : JDBP

Epigenetics of autism-related impairment: copy number variation and maternal infection.

Varvara Mazina, Jennifer Gerdts, Sandy Trinh, Katy Ankenman, Tracey Ward, Megan Y Dennis, Santhosh Girirajan, Evan E Eichler, Raphael Bernier

Open access · greenAbstract read
In one paragraph

Article in Journal of developmental and behavioral pediatrics : JDBP. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 1 pooled it
7.1field-weighted citation impact, top 2% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

56 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.

  1. Pooled it
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  8. Maternal Influenza and Offspring Neurodevelopment.Current issues in molecular biology · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Varvara Mazina*University of Washington School of Medicine, Seattle, WA; Departments of †Psychiatry, and ‡Genome Sciences, University of Washington, Seattle, WA; §Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA; ‖Howard Hughes Medical Institute, University of Washington, Seattle, WA.
Jennifer Gerdts
Sandy Trinh
Katy Ankenman
Tracey Ward
Megan Y Dennis
Santhosh Girirajan
Evan E Eichler
Raphael Bernier
University of Washington · US

Funding

Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
Howard Hughes Medical InstituteNICHD NIH HHS U54 HD083091NIMH NIH HHS 1R01MH101221NIMH NIH HHS R01 MH101221
6 · The paper itself

Abstract

objectiveEpidemiological data have suggested maternal infection and fever to be associated with increased risk of autism spectrum disorder (ASD). Animal studies show that gestational infections perturb fetal brain development and result in offspring with the core features of autism and have demonstrated that behavioral effects of maternal immune activation are dependent on genetic susceptibility. The goal of this study was to explore the impact of ASD-associated copy number variants (CNVs) and prenatal maternal infection on clinical severity of ASD within a dataset of prenatal history and complete genetic and phenotypic findings.

methodsWe analyzed data from the Simons Simplex Collection sample including 1971 children with a diagnosis of ASD aged 4 to 18 years who underwent array comparative genomic hybridization screening. Information on infection and febrile episodes during pregnancy was collected through parent interview. ASD severity was clinically measured through parent-reported interview and questionnaires.

resultsWe found significant interactive effects between the presence of CNVs and maternal infection during pregnancy on autistic symptomatology, such that individuals with CNVs and history of maternal infection demonstrated increased rates of social communicative impairments and repetitive/restricted behaviors. In contrast, no significant interactions were found between presence of CNVs and prenatal infections on cognitive and adaptive functioning of individuals with ASD.

conclusionsOur findings support a gene-environment interaction model of autism impairment, in that individuals with ASD-associated CNVs are more susceptible to the effects of maternal infection and febrile episodes in pregnancy on behavioral outcomes and suggest that these effects are specific to ASD rather than to global neurodevelopment.

Indexed as

Gene-Environment InteractionPregnancy Complications, InfectiousRegistriesAutism Spectrum DisorderChildChild, PreschoolDNA Copy Number VariationsEpigenesis, GeneticFemaleFeverGenetic Predisposition to DiseaseHumansMalePregnancySeverity of Illness Index

Identifiers

PMID25629966
PMCPMC4318761
OpenAlexW2033984965

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

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.