CoChat
Sign Up
Cited by 89Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFamily and Disability Support Research

Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings

Open access
Palmer, Nathan, Beam, Andrew, Agniel, Denis, Eran, Alal, Manrai, Arjun, Spettell, Claire, Steinberg, Gregory, Mandl, Kenneth +3 more·2017·JAMA Pediatrics
DOI 10.1001/jamapediatrics.2017.2832PMC PMC5710368
Open this paper in CoChat — free accountOpen PDF

Abstract

Importance: Autism spectrum disorder (ASD) is known to be more prevalent among males than females in the general population. Although overall risk of recurrence of ASD among siblings has been estimated to be between 6.1% and 24.7%, information on sex-specific recurrence patterns is lacking. Objective: To estimate high-confidence sex-specific recurrence rates of ASD among siblings. Design, Setting, and Participants: This observational study used an administrative database to measure the incidence of ASD among children in 1 583 271 families (37 507 with at least 1 diagnosis of ASD) enrolled in commercial health care insurance plans at a large US managed health care company from January 1, 2008, through February 29, 2016. Families in the study had 2 children who were observed for at least 12 months between 4 and 18 years of age. Main Outcomes and Measures: The primary measure of ASD recurrence was defined as the diagnosis of ASD in a younger sibling of an older sibling with an ASD diagnosis. Results: Among the 3 166 542 children (1 547 266 females and 1 619 174 males; mean [SD] age, 11.2 [4.7] years) in the study, the prevalence of ASD was 1.96% (95% CI, 1.94%-1.98%) among males and 0.50% (95% CI, 0.49%-0.51%) among females. When a male was associated with risk in the family, ASD was diagnosed in 4.2% (95% CI, 3.8%-4.7%) of female siblings and 12.9% (95% CI, 12.2%-13.6%) of male siblings. When a female was associated with risk in the family, ASD was diagnosed in 7.6% (95% CI, 6.5%-8.9%) of female siblings and 16.7% (95% CI, 15.2%-18.4%) of male siblings. Conclusions and Relevance: These findings are in agreement with the higher rates of ASD observed among males than among females in the general population. Our study provides more specific guidance for the screening and counseling of families and may help inform future investigations into the environmental and genetic factors that confer risk of ASD.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1001/jamapediatrics.2017.2832

Cites

32 of 32 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Higher autism prevalence occurs among individuals with a close autistic female relative, and the likelihood of autism increases in later-born offspring siblings of autistic females compared with autistic males (the Carter effect).

    “Higher autism prevalence (compared with that in the general population) occurs among individuals who have a close autistic female relative and the likelihood of autism increases in later-born offspring siblings of autistic females, compared with autistic males (known as the Carter effect)227–229.”

    From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [227]

  • Studies investigating the female protective effect in autism have used partly overlapping samples, and independent replication is therefore required.

    “Studies investigating the so-called female protective effect in autism have used partly overlapping samples, and independent replication is therefore required225,227–229,236.”

    From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [227]

  • Several previous studies have considered the FPE through familial recurrence, with inconsistent results.

    “Several previous studies have considered the FPE through familial recurrence, with inconsistent results.21, 22, 23, 24”

    From The female protective effect against autism spectrum disorder (2022) · cites this paper as [24]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Palmer, N., Beam, A., Agniel, D., Eran, A., Manrai, A., Spettell, C., Steinberg, G., Mandl, K., Fox, K., Nelson, S. F., & Kohane, I.
Affiliations
  • Harvard University (US)
  • Aetna (United States) (US)
  • Independent Coauthor, Dingmans Ferry, Pennsylvania
  • Boston Children's Hospital (US)
  • University of California, Los Angeles (US)
Corresponding author
Kohane, Isaac
ORCID
Venue
JAMA Pediatrics
Publisher
American Medical Association (AMA)
Published
2017-11-01
Volume
171
Issue
11
Pages
1107
ISSN
  • 1072-4710 (ISSN-L)
  • 2168-6203
DOI
10.1001/jamapediatrics.2017.2832
PMC
PMC5710368
OpenAlex
W2759501561
Cited by
89
References
32
Citations by year
2026: 5 · 2025: 3 · 2024: 10 · 2023: 12 · 2022: 9 · 2021: 14 · 2020: 12 · 2019: 13 · 2018: 9 · 2017: 1 · 2016: 1
FWCI
5.50
Type
journal article
Language
en
Open access
Locations
  • Archives of Pediatrics and Adolescent Medicine (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
Keywords
autism spectrum disorder, recurrence risk, siblings, sex differences, male predominance, familial risk, autism prevalence, genetic and environmental risk factors, managed care
MeSH terms
Autism Spectrum Disorder, Adolescent, Child, Child, Preschool, Female, Humans, Male, Retrospective Studies, Risk Factors, Sex Factors, United States, Databases, Factual, Siblings

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review