Evidence map›Paper›PMID 33860292›Full record

ArticleBrain : a journal of neurology2021

A neurogenetic analysis of female autism.

Allison Jack, Catherine A W Sullivan, Elizabeth Aylward, Susan Y Bookheimer, Mirella Dapretto, Nadine Gaab, John D Van Horn, Jeffrey Eilbott, Zachary Jacokes, Carinna M Torgerson and 8 more

Open access · bronzeAbstract read
In one paragraph

Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
3.7field-weighted citation impact, top 6% 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

24 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Learning Explainable Imaging-Genetics Associations Related to a Neurological Disorder.Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention · 2026
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Review
  14. Copy Number Variation Informs fMRI-based Prediction of Autism Spectrum Disorder.Machine learning in clinical neuroimaging : 6th international workshop, MLCN 2023, held in conjunction with MICCAI 2023, Vancouver, BC, Canada, October 8, 2023, proceedings. MLCN (Workshop) (6th : 2023 : Vancouver, B.C.) · 2023
    Article
  15. Why do we need sex-balanced studies of autism?Autism research : official journal of the International Society for Autism Research · 2023
    Article
  16. Do subtle cultural differences sculpt face pareidolia?Schizophrenia (Heidelberg, Germany) · 2023
    Article
  17. Article
  18. Exclusion of females in autism research: Empirical evidence for a "leaky" recruitment-to-research pipeline.Autism research : official journal of the International Society for Autism Research · 2022
    Article
  19. Article
  20. Review
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

18 authors at 7 institutions in 1 country.

Allison JackDepartment of Psychology, George Mason University, Fairfax, VA 22030, USA.ORCID 0000-0002-7792-6464
Catherine A W SullivanDepartment of Pediatrics, Yale School of Medicine, New Haven, CT 06510, USA.
Elizabeth AylwardCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Susan Y BookheimerDepartment of Psychiatry and Biobehavioral Sciences and Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles School of Medicine, Los Angeles, CA 90095, USA.
Mirella DaprettoDepartment of Psychiatry and Biobehavioral Sciences and Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles School of Medicine, Los Angeles, CA 90095, USA.
Nadine GaabDivision of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA 02115 USA.
John D Van HornDepartment of Psychology, University of Virginia, Charlottesville, VA, USA.
Jeffrey EilbottChild Study Center, Yale School of Medicine, New Haven, CT 06510, USA.
Zachary JacokesSchool of Data Science, University of Virginia, Charlottesville, VA, USA.ORCID 0000-0002-3204-6738
Carinna M TorgersonNeuroscience Graduate Program, University of Southern California, Los Angeles, CA 90007, USA.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Daniel H GeschwindDepartment of Psychiatry and Biobehavioral Sciences and Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles School of Medicine, Los Angeles, CA 90095, USA.
James C McPartlandChild Study Center, Yale School of Medicine, New Haven, CT 06510, USA.
Charles A NelsonDivision of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA 02115 USA.
Sara J WebbDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Kevin A PelphreyDepartment of Psychology, University of Virginia, Charlottesville, VA, USA.
Abha R GuptaDepartment of Pediatrics, Yale School of Medicine, New Haven, CT 06510, USA.
GENDAAR Consortium
Yale University · USUniversity of California, Los Angeles · USUniversity of Virginia · USBoston Children's Hospital · USSeattle Children's Hospital · USGeorge Mason University · USUniversity of Southern California · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Multimodal Developmental Neurogenetics of Females with ASDR01MH100028 · NIMH · YALE UNIVERSITY · PI Allison Elizabeth Jack, LAUREN KENWORTHY · 2012 to 2026
$37.8M
TRAINING PROGRAM IN CHILDHOOD NEUROPSYCHIATRIC DISORDERST32MH018268 · NIMH · YALE UNIVERSITY · PI Michael H Bloch, MICHAEL J CROWLEY · 1985 to 2026
$11.0M
Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9M
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2M
NCATS NIH HHS UL1 TR001863NICHD NIH HHS P50 HD103524NICHD NIH HHS U54 HD090255NIMH NIH HHS R01 MH100028NIMH NIH HHS T32 MH018268
6 · The paper itself

Abstract

Females versus males are less frequently diagnosed with autism spectrum disorder (ASD), and while understanding sex differences is critical to delineating the systems biology of the condition, female ASD is understudied. We integrated functional MRI and genetic data in a sex-balanced sample of ASD and typically developing youth (8-17 years old) to characterize female-specific pathways of ASD risk. Our primary objectives were to: (i) characterize female ASD (n = 45) brain response to human motion, relative to matched typically developing female youth (n = 45); and (ii) evaluate whether genetic data could provide further insight into the potential relevance of these brain functional differences. For our first objective we found that ASD females showed markedly reduced response versus typically developing females, particularly in sensorimotor, striatal, and frontal regions. This difference between ASD and typically developing females does not resemble differences between ASD (n = 47) and typically developing males (n = 47), even though neural response did not significantly differ between female and male ASD. For our second objective, we found that ASD females (n = 61), versus males (n = 66), showed larger median size of rare copy number variants containing gene(s) expressed in early life (10 postconceptual weeks to 2 years) in regions implicated by the typically developing female > female functional MRI contrast. Post hoc analyses suggested this difference was primarily driven by copy number variants containing gene(s) expressed in striatum. This striatal finding was reproducible among n = 2075 probands (291 female) from an independent cohort. Together, our findings suggest that striatal impacts may contribute to pathways of risk in female ASD and advocate caution in drawing conclusions regarding female ASD based on male-predominant cohorts.

Indexed as

Sex CharacteristicsAdolescentAutism Spectrum DisorderChildCorpus StriatumDNA Copy Number VariationsFemaleGenotypeHumansMagnetic Resonance ImagingMaleNeuroimagingautism spectrum disorderfunctional MRIgeneticssocial perceptionstriatum

Identifiers

PMID33860292
PMCPMC8320285
OpenAlexW3154249189

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.