Evidence map›Paper›PMID 33229037›Full record

ArticleBiological psychiatry2021

Elevated Polygenic Burden for Autism Spectrum Disorder Is Associated With the Broad Autism Phenotype in Mothers of Individuals With Autism Spectrum Disorder.

Kritika Nayar, Julia M Sealock, Nell Maltman, Lauren Bush, Edwin H Cook, Lea K Davis, Molly Losh

Open access · hybridAbstract read
In one paragraph

Article in Biological psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
4.1field-weighted citation impact, top 5% 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

41 citing papers in PubMed, 59 citations in OpenAlex.

  1. Article
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  4. The impact of individual factors on linguistic alignment of autistic boys and their mothers.Autism : the international journal of research and practice · 2026
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  11. Narrative Ability in Autism and First-Degree Relatives.Journal of autism and developmental disorders · 2025
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  15. Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health.Autism research : official journal of the International Society for Autism Research · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Kritika NayarRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois.
Julia M SealockVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
Nell MaltmanRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois.
Lauren BushRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois.
Edwin H CookDepartment of Psychiatry, University of Illinois at Chicago, Chicago, Illinois.
Lea K DavisVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
Molly LoshRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois. Electronic address: m-losh@northwestern.edu.
Northwestern University · USVanderbilt University Medical Center · USUniversity of Illinois Chicago · US

Funding

Training and Mentoring CoreU54MD010722 · NIMHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C. · 2016 to 2020
$11.9M
Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3M
A Family-Genetic Study of Autism and Fragile X SyndromeR01MH091131 · NIMH · NORTHWESTERN UNIVERSITY · PI Molly C Losh · 2012 to 2026
$10.1M
Genetic Privacy and Identity in Community Settings - GetPreCiSeRM1HG009034 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI CLAYTON, ELLEN WRIGHT, MALIN, BRADLEY A. · 2016 to 2024
$8.3M
A Family-Genetic Study of Language in AutismR01DC010191 · NIDCD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Molly C Losh · 2010 to 2026
$7.8M
Integrating Common and Rare Variation to Discover Genes Associated with Tourette SyndromeR01NS102371 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, OPHOFF, ROEL A · 2018 to 2022
$7.4M
POSTDOCTORAL TRAINING IN MENTAL RETARDATION RESEARCHT32HD007489 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI Sigan L Hartley · 1995 to 2026
$6.0M
Analysis, Validation and Resource Creation for Genome Sequencing of Complex DiseasesU01HG009086 · NHGRI · VANDERBILT UNIVERSITY · PI COX, NANCY J, LI, BINGSHAN · 2016 to 2020
$4.3M
Discovering Biology for Neuropsychiatric Diseases Through Omics Studies on ComorbiditiesR01MH113362 · NIMH · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COX, NANCY J, KNAPIK, ELA W · 2017 to 2021
$3.9M
Neurobiological Markers of Rhythm: Risk and Resilience for Language AcquisitionR01DC016977 · NIDCD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GORDON, REYNA LEIGH · 2019 to 2023
$3.5M
PsycheMERGE: Leveraging electronic health records and genomics for mental health researchR01MH118233 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DAVIS, LEA K, SMOLLER, JORDAN W · 2019 to 2022
$3.1M
Large-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1M
NHGRI NIH HHS R21 HG010652NHGRI NIH HHS RM1 HG009034NHGRI NIH HHS U01 HG009086NICHD NIH HHS DP2 HD098859NICHD NIH HHS P50 HD103537NICHD NIH HHS T32 HD007489NIDCD NIH HHS R01 DC010191NIDCD NIH HHS R01 DC016977NIGMS NIH HHS T32 GM080178NIMHD NIH HHS U54 MD010722NIMH NIH HHS R01 MH091131NIMH NIH HHS R01 MH113362NIMH NIH HHS R01 MH118233NIMH NIH HHS R56 MH120736NINDS NIH HHS R01 NS102371NINDS NIH HHS R01 NS105746
6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder that encompasses a complex and heterogeneous set of traits. Subclinical traits that mirror the core features of ASD, referred to as the broad autism phenotype (BAP), have been documented repeatedly in unaffected relatives and are believed to reflect underlying genetic liability to ASD. The BAP may help inform the etiology of ASD by allowing the stratification of families into more phenotypically and etiologically homogeneous subgroups. This study explores polygenic scores related to the BAP.

methodsPhenotypic and genotypic information were obtained from 2614 trios from the Simons Simplex Collection. Polygenic scores of ASD (ASD-PGSs) were generated across the sample to determine the shared genetic overlap between the BAP and ASD. Maternal and paternal ASD-PGSs were explored in relation to BAP traits and their child's ASD symptomatology.

resultsMaternal pragmatic language was related to child's social communicative atypicalities. In fathers, rigid personality was related to increased repetitive behaviors in children. Maternal (but not paternal) ASD-PGSs were related to the pragmatic language and rigid BAP domains.

conclusionsAssociations emerged between parent and child phenotypes, with more associations emerging in mothers than in fathers. ASD-PGS associations emerged with BAP in mothers only, highlighting the potential for a female protective factor, and implicating the polygenic etiology of ASD-related phenotypes in the BAP.

Indexed as

Autism Spectrum DisorderAutistic DisorderChildFathersFemaleHumansMaleMothersPhenotypeAutism spectrum disorderBroad autism phenotypeCommon genetic variationEndophenotypePolygenic scoresPragmatic language

Identifiers

PMID33229037
PMCPMC7901138
OpenAlexW3085624387

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.