Evidence map›Paper›PMID 39363182›Full record

ArticleJournal of neurodevelopmental disorders2024

X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.

Lukas Schaffer, Srishti Rau, Isabella G Larsen, Liv Clasen, Allysa Warling, Ethan T Whitman, Ajay Nadig, Cassidy McDermott, Anastasia Xenophontos, Kathleen Wilson and 3 more

Abstract read
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In one paragraph

Article in Journal of neurodevelopmental disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Lukas SchafferSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Srishti RauCenter for Autism Spectrum Disorders and Division of Neuropsychology, Children's National Hospital, Washington, DC, USA.
Isabella G LarsenSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Liv ClasenSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Allysa WarlingSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Ethan T WhitmanSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Ajay NadigSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Cassidy McDermottSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Anastasia XenophontosSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Kathleen WilsonSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Jonathan BlumenthalSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Erin TorresSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA.
Armin RaznahanSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Magnuson Clinical Center, Room 4N242, MSC 1367, Bethesda, MD, 20814, USA. raznahana@mail.nih.gov.

Funding

Section on Developmental NeurogenomicsZIAMH002949 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI RAZNAHAN, ARMIN · 2016 to 2025
$30.0M
Intramural NIH HHS ZIA MH002949
6 · The paper itself

Abstract

backgroundDo different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders.

methodsUsing a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)-Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences.

resultsWe show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ.

conclusionsThis work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior.

Indexed as

Klinefelter SyndromePhenotypeAdolescentAdultChildChromosomes, Human, XChromosomes, Human, YFemaleHumansMaleMental DisordersMiddle AgedXYY KaryotypeYoung Adult

Identifiers

PMID39363182
PMCPMC11451104

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LicenceCC BY
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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.