Evidence map›Paper›PMID 38224541›Full record

ArticleHuman brain mapping2024

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Ruiyang Ge, Christopher R K Ching, Anne S Bassett, Leila Kushan, Kevin M Antshel, Therese van Amelsvoort, Geor Bakker, Nancy J Butcher, Linda E Campbell, Eva W C Chow and 37 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human brain mapping, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 21% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

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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

47 authors at 20 institutions in 8 countries.

Ruiyang GeDepartment of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
Christopher R K ChingImaging Genetics Center, University of Southern California, Los Angeles, California, USA.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.ORCID 0000-0002-0681-7279
Leila KushanDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Kevin M AntshelDepartment of Psychology, Syracuse University, Syracuse, New York, USA.
Therese van AmelsvoortDepartment of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands.
Geor BakkerDepartment of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands.
Nancy J ButcherDepartment of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Linda E CampbellSchool of Psychology, University of Newcastle, Callaghan, Australia.
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Michael CraigSackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Nicolas A CrossleyDepartment of Psychiatry, Pontificia Universidad Catolica de Chile, Santiago, Chile.
Adam CunninghamMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Eileen DalySackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Joanne L DohertyMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Courtney A DurdleDepartment of Pediatrics, UC Davis MIND Institute, Davis, California, USA.
Beverly S EmanuelDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ania FiksinskiDepartment of Psychology and Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.
Jennifer K ForsythDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Wanda FremontDepartment of Psychiatry and Behavioral Sciences State University of New York, Upstate Medical University Syracuse, New York, USA.
Naomi J Goodrich-HunsakerDepartment of Pediatrics, UC Davis MIND Institute, Davis, California, USA.
Maria GudbrandsenSackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Raquel E GurDepartment of Psychiatry, Perelman School of Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Maria JalbrzikowskiDepartment of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Wendy R KatesDepartment of Psychiatry and Behavioral Sciences State University of New York, Upstate Medical University Syracuse, New York, USA.
Amy LinDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
David E J LindenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Kathryn L McCabeSchool of Psychology, University of Newcastle, Callaghan, Australia.
Donna McDonald-McGinnDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Hayley MossMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Declan G MurphySackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Kieran C MurphyDepartment of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Julio E Villalon-ReinaImaging Genetics Center, University of Southern California, Los Angeles, California, USA.
Gabriela M RepettoCentro de Genetica y Genomica, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
David R RoalfDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Kosha RuparelDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
J Eric SchmittDepartment of Radiology and Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Sanne Schuite-KoopsDepartment of Psychiatry, University Medical Center Groningen, Rijksuniversiteit Groningen, Groningen, Netherlands.
Kathleen AngkustsiriDepartment of Pediatrics, UC Davis MIND Institute, Davis, California, USA.
Daqiang SunDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Ariana VajdiDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Marianne van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Jacob VorstmanDepartment of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Paul M ThompsonDepartments of Neurology, Psychiatry, Radiology, Engineering, Pediatrics and Ophthalmology, University of Southern California, Los Angeles, California, USA.
Fidel Vila-RodriguezDepartment of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Cardiff University · GBUniversity of California, Los Angeles · USKing's College London · GBChildren's Hospital of Philadelphia · USUniversity of Pennsylvania · USUniversity of Southern California · USMaastricht University · NLSUNY Upstate Medical University · USUniversity of British Columbia · CAUniversity of Newcastle Australia · AUUniversity of Toronto · CABoston Children's Hospital · USCentre for Addiction and Mental Health · CAKaiser Permanente · USPontificia Universidad Católica de Chile · CLRoyal College of Surgeons in Ireland · IESyracuse University · USUniversidad del Desarrollo · CLUniversity Health Network · CAUniversity Medical Center Groningen · NL

Funding

Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Rodent Behavior CoreU54HD079125 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI ABBEDUTO, LEONARD J. · 2013 to 2019
$8.5M
Biomarkers for Psychosis in Velocardiofacial SyndromeR01MH064824 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI KATES, WENDY · 2002 to 2015
$7.3M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Predicting psychosis risk in youth using a novel structural neuroimaging score that measures deviation from normative development. Can we bring it to communities using portable, low-field MRI?R01MH129636 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI MARIA JALBRZIKOWSKI · 2022 to 2026
$3.8M
ENIGMA World Aging CenterR01AG058854 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2021 to 2025
$3.3M
1/9: Dissecting the effects of genomic variants on nenriched for neuropsychiatric disorderseurobehavioral dimensions in CNVs U01MH119738 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2019 to 2023
$3.2M
5/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119741 · NIMH · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI VORSTMAN, JACOB A.S. · 2019 to 2024
$3.1M
ENIGMA Bipolar Initiative: A Global Study of Imaging Genomics & Clinical OutcomesR01MH129742 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Christopher Ching, PAUL M THOMPSON · 2022 to 2026
$3.0M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101719 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2013 to 2016
$2.8M
ENIGMA-SD: Understanding Sex Differences in Global Mental Health through ENIGMAR01MH116147 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2018 to 2021
$2.5M
Medical Research Council MR/L010305/1NIA NIH HHS R01 AG058854NIBIB NIH HHS U54 EB020403NICHD NIH HHS U54 HD079125NIH HHS 5U01MH119737-04NIH HHS K01MH112774NIH HHS R01AG058854-02NIH HHS R01 MH064824NIH HHS R01MH107018NIH HHS R01MH116147-04NIH HHS R01MH129636NIH HHS R01MH129742-01NIH HHS U01MH101724NIH HHS U01MH119738NIH HHS U54HD079125NIMH NIH HHS K01 MH112774NIMH NIH HHS R01 MH064824NIMH NIH HHS R01 MH085953NIMH NIH HHS R01MH085953NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH129636NIMH NIH HHS R01 MH129742NIMH NIH HHS R37 MH085953NIMH NIH HHS U01 MH101719NIMH NIH HHS U01MH101719NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119737NIMH NIH HHS U01 MH119738NIMH NIH HHS U01 MH119741NIMH NIH HHS U01MH119741-01NIMH NIH HHS U01 MH119758NIMH NIH HHS U01MH119758Wellcome TrustWellcome Trust 102003/Z/13/Z
6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1-weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source-based morphometry (SBM) pipeline (SS-Detect) to generate structural brain patterns (SBPs) that capture co-varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV-SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel-based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.

Indexed as

DiGeorge SyndromePsychotic DisordersAdolescentBrainFemaleGray MatterHumansMagnetic Resonance ImagingMale22q11 deletion syndromegray matter volumemagnetic resonnance imagingsource-based morphometry

Identifiers

PMID38224541
PMCPMC10785196
OpenAlexW4390819925

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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.