Evidence map›Paper›PMID 28253736›Full record

ArticleThe American journal of psychiatry2017

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

Somer L Bishop, Cristan Farmer, Vanessa Bal, Elise B Robinson, A Jeremy Willsey, Donna M Werling, Karoline Alexandra Havdahl, Stephan J Sanders, Audrey Thurm

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The American journal of psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 2 pooled it
5.1field-weighted citation impact, top 4% 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

61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 99 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes.Journal of autism and developmental disorders · 2026
    Article
  5. Review
  6. Article
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  9. Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.American journal on intellectual and developmental disabilities · 2025
    Article
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  11. Article
  12. Review
  13. Article
  14. Article
  15. Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. Article

1 more citing papers are in PubMed but not listed here.

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.

Somer L BishopFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Cristan FarmerFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Vanessa BalFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Elise B RobinsonFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
A Jeremy WillseyFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Donna M WerlingFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Karoline Alexandra HavdahlFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Stephan J SandersFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Audrey ThurmFrom the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.
Harvard University · US

Funding

Neurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6M
Functional Genomics of Human Brain DevelopmentP50MH106934 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2014 to 2019
$7.9M
The genomic bridge project (GBP)K01MH099286 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI ROBINSON, ELISE B · 2013 to 2016
$647k
Intramural NIH HHS Z99 MH999999Medical Research Council MC_UU_12013/1NIMH NIH HHS K01 MH099286NIMH NIH HHS P50 MH106934
6 · The paper itself

Abstract

objectiveAside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci.

methodAnalyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains.

resultsChildren with de novo mutations (N=112) had a greater likelihood of motor delay during early development (later age at walking), but they were less impaired on certain measures of ASD core symptoms (parent-rated social communication abnormalities and clinician-rated diagnostic certainty about ASD) in later childhood. These children also showed relative strengths in verbal and language abilities, including a smaller discrepancy between nonverbal and verbal IQ and a greater likelihood of having achieved fluent language (i.e., regular use of complex sentences).

conclusionsChildren with ASD with de novo mutations may exhibit a "muted" symptom profile with respect to social communication and language deficits relative to those with ASD with no identified genetic abnormalities. Such findings suggest that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.

Indexed as

GenotypePhenotypeAdolescentAutism Spectrum DisorderCase-Control StudiesChildChild, PreschoolDevelopmental DisabilitiesDNA Copy Number VariationsDNA Mutational AnalysisFemaleHumansIntelligenceLanguage Development DisordersLikelihood FunctionsMaleAutism Spectrum DisorderDe Novo MutationsIdiopathic ASDPhenotypeSimons Simplex CollectionSyndromic ASD

Identifiers

PMID28253736
PMCPMC5578709
OpenAlexW2592553489

What OpenQuestion holds

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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.