Evidence map›Paper›PMID 40495526›Full record

ArticleThe American journal of psychiatry2025

Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study.

Zhiqiang Sha, Kevin Y Sun, Benjamin Jung, Ran Barzilay, Tyler M Moore, Laura Almasy, Jennifer K Forsyth, Smrithi Prem, Michael J Gandal, Jakob Seidlitz and 2 more

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Article in The American journal of psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Zhiqiang ShaDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).ORCID 0000-0001-6604-6202
Kevin Y SunDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Benjamin JungDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).ORCID 0000-0002-8906-8452
Ran BarzilayDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).ORCID 0000-0002-3247-2331
Tyler M MooreDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Laura AlmasyDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Jennifer K ForsythDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Smrithi PremDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Michael J GandalDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Jakob SeidlitzDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Joseph T GlessnerDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).
Aaron F Alexander-BlochDepartment of Psychiatry (Sha, Sun, Barzilay, Moore, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung) and Department of Genetics (Almasy, Gandal), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Child and Adolescent Psychiatry and Behavioral Science (Sha, Sun, Barzilay, Prem, Seidlitz, Alexander-Bloch, Jung), Department of Biomedical and Health Informatics (Almasy), and Center for Applied Genomics (Glessner), Children's Hospital of Philadelphia, Philadelphia; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia (Sha, Sun, Barzilay, Moore, Almasy, Prem, Gandal, Seidlitz, Alexander-Bloch, Jung); Department of Psychology, University of Washington, Seattle (Forsyth).ORCID 0000-0001-6554-1893

Funding

ABCD-USA Consortium: Coordinating CenterU24DA041147 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SANDRA A BROWN, TERRY L. JERNIGAN · 2015 to 2026
$54.7M
ABCD-USA Consortium: Data Analysis, Informatics and Resource CenterU24DA041123 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANDERS M DALE · 2015 to 2026
$51.5M
Adolescent Substance Use Initiation: Disentangling neurocognitive risks from consequences using longitudinal and genetically-informed methodsU01DA041120 · NIDA · UNIVERSITY OF MINNESOTA · PI Monica Luciana, Sylia Wilson · 2015 to 2026
$34.5M
ABCD-USA Consortium: Research ProjectU01DA041089 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Joanna Jacobus, Susan F. Tapert · 2015 to 2026
$31.7M
Prospective Research Studies of Maturation (PRISM)- Research ProjectU01DA041134 · NIDA · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI ERIN MCGLADE, PERRY FRANKLIN RENSHAW · 2015 to 2026
$29.2M
ABCD-USA CONSORTIUM: RESEARCH PROJECTU01DA041048 · NIDA · CHILDREN'S HOSPITAL OF LOS ANGELES · PI Megan Marie Herting, ELIZABETH R SOWELL · 2015 to 2026
$28.7M
ABCD-USA Consortium: Research ProjectU01DA041106 · NIDA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mary M Heitzeg, Chandra Sekhar Sripada · 2015 to 2026
$24.9M
FIU-ABCD: Pathways and Mechanisms to Addiction in the Latino Youth of South FloridaU01DA041156 · NIDA · FLORIDA INTERNATIONAL UNIVERSITY · PI Raul Gonzalez, Angela R Laird · 2015 to 2026
$22.8M
ABCD-USA Consortium: Research ProjectU01DA041148 · NIDA · OREGON HEALTH & SCIENCE UNIVERSITY · PI Damien A Fair, Rebekah S Huber · 2015 to 2026
$22.3M
ABCD-USA: NYC Research ProjectU01DA041174 · NIDA · YALE UNIVERSITY · PI Arielle Ryan Baskin-Sommers, Betty J Casey · 2015 to 2026
$19.7M
Adolescent Brain Cognitive Development (ABCD) Prospective Research in Studies of Maturation (PRISM) ConsortiumU01DA041117 · NIDA · UNIVERSITY OF MARYLAND BALTIMORE · PI LINDA CHANG, THOMAS M ERNST · 2015 to 2026
$19.5M
15/21 ABCD-USA Consortium: Research Project Site at LIBRU01DA050989 · NIDA · LAUREATE INSTITUTE FOR BRAIN RESEARCH · PI ROBIN L AUPPERLE, MARTIN P. PAULUS · 2020 to 2026
$14.7M
NIDA NIH HHS U01 DA041022NIDA NIH HHS U01 DA041025NIDA NIH HHS U01 DA041028NIDA NIH HHS U01 DA041048NIDA NIH HHS U01 DA041089NIDA NIH HHS U01 DA041093NIDA NIH HHS U01 DA041106NIDA NIH HHS U01 DA041117NIDA NIH HHS U01 DA041120NIDA NIH HHS U01 DA041134NIDA NIH HHS U01 DA041148NIDA NIH HHS U01 DA041156NIDA NIH HHS U01 DA041174NIDA NIH HHS U01 DA050987NIDA NIH HHS U01 DA050988NIDA NIH HHS U01 DA050989NIDA NIH HHS U01 DA051016NIDA NIH HHS U01 DA051018NIDA NIH HHS U01 DA051037NIDA NIH HHS U01 DA051038NIDA NIH HHS U01 DA051039NIDA NIH HHS U24 DA041123NIDA NIH HHS U24 DA041147NIMH NIH HHS F30 MH138048NIMH NIH HHS R01 MH132934NIMH NIH HHS R01 MH133843
6 · The paper itself

Abstract

objectiveLate childhood is a crucial period for individuals with psychiatric disorders. While common single-nucleotide polymorphisms explain a large proportion of inherited risk, structural variations including copy number variants (CNVs) play a significant role in the genetic architecture of neurodevelopmental disorders. The relevance of CNVs to child psychopathology and cognitive function in the general population remains underexplored. The authors conducted a comprehensive exploration of the CNV architecture underlying dimensions of psychopathology and cognitive phenotypes within the Adolescent Brain Cognitive Development (ABCD) Study.

methodsUsing two algorithms for CNV detection, the authors identified duplications and deletions across 11,876 individuals from the ABCD Study. Quality control procedures considered array log R ratio and B allele frequency profiles, CNV size, agreement between the two algorithms, and genomic location of CNVs. CNVs that passed quality control were used to identify regions associated with quantitative measures of broad psychiatric symptom domains and cognitive functioning. Additionally, CNV risk scores, reflecting the aggregated burden of genetic intolerance to inactivation and dosage sensitivity, were calculated to assess cumulative impact on overall and dimensional psychiatric and cognitive phenotypes.

resultsAcross 8,564 individuals whose data passed quality control, 4,111 carried 5,760 autosomal CNVs. Although no CNV regions reached significance after strict multiple testing correction was applied, 16 regions were associated with psychopathology and cognitive development at an uncorrected genome-wide significance level. A duplication at 14q11.2 showed the strongest association with attentional psychopathology. Moreover, individuals carrying CNVs previously associated with neurodevelopmental disorders exhibited greater impairment in social functioning and cognitive performance across fluid intelligence, working memory, and processing speed. Notably, higher CNV risk scores were significantly correlated with greater attention problems and cognitive impairment across multiple domains (fluid intelligence, attention, working memory, flexible thinking, and processing speed).

conclusionsThese findings shed light on the contributions of CNVs to interindividual variability in complex traits related to neurocognitive development and child psychopathology.

Indexed as

CognitionDNA Copy Number VariationsMental DisordersNeurodevelopmental DisordersAdolescentChildFemaleHumansMalePhenotypePsychopathologyChild/Adolescent PsychiatryGenetics/GenomicsNeurodevelopmental Disorders

Identifiers

PMID40495526
PMCPMC12318608

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