Evidence map›Paper›PMID 42058778›Full record

ArticleBiological psychiatry global open science2026

Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.

Hoki Fung, Kathleen P O'Hora, Rune Boen, Haley R Wang, Carolyn M Amir, Charles H Schleifer, Leila Kushan-Wells, Blake A Miranda, Elizabeth K Bondy, Paul J Mathews and 1 more

Abstract read
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In one paragraph

Article in Biological psychiatry global open science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

11 authors.

Hoki FungDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Kathleen P O'HoraDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Rune BoenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Haley R WangDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Carolyn M AmirDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Charles H SchleiferDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Leila Kushan-WellsDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Blake A MirandaNeuroscience Interdepartmental Program, University of California, Los Angeles, Los Angeles, California.
Elizabeth K BondyDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.
Paul J MathewsDepartment of Neurology, UCLA, Los Angeles School of Medicine, Los Angeles, California.
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Copy number variants (CNVs) at 22q11.2 confer substantial risk for neurodevelopmental and psychiatric disorders. Both the 22q11.2 deletion (22qDel) and 22q11.2 duplication (22qDup) are associated with increased risk for autism spectrum disorder and intellectual disability. In contrast, while 22qDel markedly increases risk for schizophrenia, 22qDup may be protective. Prior neuroimaging work has focused primarily on the cerebrum, leaving cerebellar contributions understudied, despite growing evidence for their relevance to cognition and psychopathology. Here, we characterized regional cerebellar structure and examined multivariate cerebellar-behavior associations in individuals with reciprocal 22q11.2 CNVs. Methods: We analyzed 514 structural magnetic resonance imaging scans from 315 participants (mean age = 16.4 ± 8.8 years; 52% female), comprising 22qDel carriers ( Results: Relative to TD control participants, 22qDel carriers showed widespread cerebellar volume reductions, whereas alterations in 22qDup were milder and regionally selective. Vermis VII was reduced in both 22q11.2 CNVs, indicating a shared site of anatomical vulnerability. PLSC identified domain-specific cerebellar patterns, with posterior regions-most prominently bilateral lobule VIIIA-associated with cognitive and social functioning and bilateral crus II and medial regions associated with psychosis-risk symptoms. Conclusions: Reciprocal 22q11.2 CNVs showed shared and divergent cerebellar alterations, with distinct subregions contributing to different behavioral domains, underscoring the cerebellum's multifaceted role in neurodevelopment and psychiatric disease risk.

Indexed as

22q11.2 deletion22q11.2 duplicationAutism Spectrum DisorderNeurodevelopmental disorderNeuroimagingPsychosis

Identifiers

PMID42058778
PMCPMC13122804

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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.