Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
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OBJECTIVE: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. METHOD: The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. RESULTS: Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. CONCLUSIONS: To the authors’ knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.
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The 22q11.2 deletion syndrome is characterized by high rates of schizophrenia (prevalence from 10% in adolescents to 41% in young adults).
“The only molecular risk factor for psychosis that may have a preventive relevance is the 22q11.2 deletion syndrome, which is characterized by high rates of schizophrenia (prevalence from 10% in adolescents to 41% in young adults) 132 .”
From Preventive psychiatry: a blueprint for improving the mental health of young people (2021) · cites this paper as [132]
22q11.2 deletion syndrome is associated with psychotic disorders, with prevalence 10-41% and risk 37% at 32 months.
“22q11.2 deletion syndrome (prevalence 10-41% 132 *, risk 37% at 32 months 135 *)”
From Preventive psychiatry: a blueprint for improving the mental health of young people (2021) · cites this paper as [132]
Screening for family history of psychotic disorder has no available data on efficacy for preventing psychotic disorders.
“Screening for family history of psychotic disorder (data not available) 132 *”
From Preventive psychiatry: a blueprint for improving the mental health of young people (2021) · cites this paper as [132]
Individuals carrying 22q11 deletions may develop ASD, schizophrenia, depression or anxiety disorders, among other conditions.
“Individuals carrying 22q11 deletions may develop ASD, schizophrenia, depression or anxiety disorders, among other conditions 151”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [151]
Up to one in four 22q11DS patients develop psychosis, corresponding to about a 20-fold increased risk, and this accounts for 1-2% of schizophrenia cases.
“Up to one in four 22q11.2DS patients develop psychosis, which correspond to a ~20–fold increase in risk, and accounts for 1–2% of all schizophrenia cases4–6.”
From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [6]
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Oliver, D., Arribas, M., Radua, J., Salazar de Pablo, G., De Micheli, A., Spada, G., Mensi, M. M., Kotlicka-Antczak, M., Borgatti, R., Solmi, M., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01611-w · Cited by 49 · see citing works
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- Authors
- Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., Antshel, K. M., Fremont, W., McDonald-McGinn, D. M., Gur, R. E., Zackai, E. H., Vorstman, J., Duijff, S. N., Klaassen, P. W. J., Swillen, A., Gothelf, D., Green, T., Weizman, A., Van Amelsvoort, T., Evers, L., Boot, E., Shashi, V., Hooper, S. R., Bearden, C. E., Jalbrzikowski, M., Armando, M., Vicari, S., Murphy, D. G., Ousley, O., Campbell, L. E., Simon, T. J., Eliez, S., & for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
- Affiliations
- University of Geneva (CH)
- From the Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Clinical Genetics Research Program and Clinical Genetics Service, Centre for Addiction and Mental Health, Toronto; the Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto; the Department of Psychiatry, University of Toronto; the Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric...
- ORCID
- Schneider, Maude
- Debbané, Martin
- Bassett, Anne S.
- Chow, Eva W.C.
- Fung, Wai Lun Alan
- Owen, Michael
- Murphy, Kieran C.
- Niarchou, Maria
- Kates, Wendy R.
- Antshel, Kevin M.
- Fremont, Wanda
- Gur, Raquel E.
- Zackai, Elaine H.
- Vorstman, Jacob
- Swillen, Ann
- Green, Tamar
- Weizman, Abraham
- Boot, Erik
- Shashi, Vandana
- Hooper, Stephen R.
- Bearden, Carrie E.
- Jalbrzikowski, Maria
- Armando, Marco
- Vicari, Stefano
- Murphy, Declan G.
- Ousley, Opal
- Campbell, Linda E.
- Venue
- American Journal of Psychiatry
- Published
- 2014-06
- Volume
- 171
- Issue
- 6
- Pages
- 627-639
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- PMC
- PMC4285461
- OpenAlex
- W2156691676
- Cited by
- 779
- References
- 62
- Citations by year
- 2026: 33 · 2025: 48 · 2024: 60 · 2023: 70 · 2022: 64 · 2021: 90 · 2020: 67 · 2019: 65 · 2018: 63 · 2017: 88 · 2016: 64 · 2015: 52 · 2014: 12 · 2013: 1 · 2012: 1
- FWCI
- 9.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (KU Leuven) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Research Publications (Maastricht University) (submittedVersion)
- NOVA (University of Newcastle Australia) (submittedVersion)
- Funders
- National Science Foundation (2011378)
- Brain and Behavior Research Foundation
- Simons Foundation
- March of Dimes Foundation
- Children's Hospital of Philadelphia
- University of Pennsylvania
- Emory University
- Syracuse University
- BioMarin Pharmaceutical
- National Alliance for Research on Schizophrenia and Depression
- Wellcome Trust (GR067869MF)
- Royal College of Surgeons in Ireland
- Ospedale Pediatrico Bambino Gesù
- King's College London
- Cardiff University
- Hunter Medical Research Institute
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (125759)
- Universiteit Maastricht
- University of Toronto
- Tel Aviv University
- Université de Genève
- School of Medicine, Stanford University
- University of California, Los Angeles
- School of Medicine, Emory University
- University of California, Davis
- Perelman School of Medicine, University of Pennsylvania
- Department of Psychiatry, University of Toronto
- Canadian Institutes of Health Research (455614, MOP #97800, 89066_1, 97800, 89066, 74631_1)
- Medical Research Council (MR/L010305/1)
- National Health and Medical Research Council
- National Institute of Mental Health (U01MH101723, R34MH091314, U01MH101719, MH-091314, U01MH087626, MH064824, U01MH087636, U01MH101724, R01MH085953, R01MH064824, MH087626, U01MH101720, U01MH101722, R01MH078015, MH-78015, MH-087636)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD042974, HD070454, P01HD070454, P50HD055784)
- School of Medicine, University of North Carolina at Chapel Hill
- Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- 22q11.2 deletion syndrome, mental illness, schizophrenia, attention deficit hyperactivity disorder, anxiety disorders, mood disorders, autism spectrum disorder, psychosis risk, sex differences, intelligence, adaptive behavior, daily living skills, developmental disorders, childhood to adulthood
- MeSH terms
- Adolescent, Adult, Age Factors, Aged, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Mental Disorders, Child, Child Development Disorders, Pervasive, DiGeorge Syndrome, Female, Humans, Intelligence, Male, Middle Aged, Psychopathology, Psychotic Disorders, Sex Factors, Mood Disorders, Young Adult
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.
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