Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome
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The 22q11.2 deletion syndrome (22q11DS) is characterized by high rates of psychotic symptoms and schizophrenia, making this condition a promising human model for studying risk factors for psychosis. We explored the predictive value of ultra high risk (UHR) criteria in a sample of patients with 22q11DS. We also examined the additional contribution of socio‐demographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.5 ± 17.6 months after initial assessment. Eighty‐nine participants with 22q11DS (age range: 8‐30 years; mean 16.1 ± 4.7) were assessed using the Structured Interview for Psychosis‐Risk Syndromes. Information on Axis I diagnoses, internalizing and externalizing symptoms, level of functioning and IQ was also collected. At baseline, 22 (24.7%) participants met UHR criteria. Compared to those without a UHR condition, they had a significantly lower functioning, more frequent anxiety disorders, and more severe psychopathology. Transition rate to psychosis was 27.3% in UHR and 4.5% in non‐UHR participants. Cox regression analyses revealed that UHR status significantly predicted conversion to psychosis. Baseline level of functioning was the only other additional predictor. This is the first study investigating the predictive value of UHR criteria in 22q11DS. It indicates that the clinical path leading to psychosis is broadly comparable to that observed in other clinical high‐risk samples. Nevertheless, the relatively high transition rate in non‐UHR individuals suggests that other risk markers should be explored in this population. The role of low functioning as a predictor of transition to psychosis should also be investigated more in depth.
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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 [135]
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Accinni, T., Buzzanca, A., Frascarelli, M., Carlone, L., Ghezzi, F., Kotzalidis, G. D., Bucci, P., Giordano, G. M., Girardi, N., Panzera, A., et al. (2021) · Schizophrenia Bulletin Open · doi:10.1093/schizbullopen/sgab049 · Cited by 10 · see citing works
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Bagautdinova, J., Padula, M. C., Zöller, D., Sandini, C., Schneider, M., Schaer, M., & Eliez, S. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-01090-z · Cited by 9 · see citing works
Self-citationWang, F., Huang, Z., Ye, Y., He, X., Wang, S., Jia, F., & Hou, C. (2024) · Asian Journal of Psychiatry · doi:10.1016/j.ajp.2024.104071 · Cited by 8 · see citing works
Cognitive-Developmental Mechanisms in Hallucinations
Fernyhough, C., de Boer, J. N., Davis, P. E., Schneider, M., Moriguchi, Y., Alderson‐Day, B., Brederoo, S., & Jardri, R. (2025) · Schizophrenia Bulletin · doi:10.1093/schbul/sbaf144 · Cited by 8 · see citing works
Self-citationResearch Trends in Individuals at High Risk for Psychosis: A Bibliometric Analysis
Lee, T. Y., Lee, S. S., Gong, B.-G., & Kwon, J. S. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.853296 · Cited by 6 · see citing works
Ilen, L., Feller, C. M., Eliez, S., Micol, E., Delavari, F., Sandi, C., Zanoletti, O., & Schneider, M. (2021) · Comprehensive Psychoneuroendocrinology · doi:10.1016/j.cpnec.2021.100103 · Cited by 5 · see citing works
Self-citationRecognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome
Buzzanca, A., Accinni, T., Frascarelli, M., Troisi, E., Kotzalidis, G. D., Bonaventura, C. D., Fanella, M., Putotto, C., Marino, B., Pasquini, M., et al. (2022) · Early Intervention in Psychiatry · doi:10.1111/eip.13295 · Cited by 5 · see citing works
Pascucci, A., Forrer, S., Sandini, C., Mancini, V., Alemán‐Gómez, Y., D, S. E. M., & Delavari, F. (2026) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2026.100713 · Cited by 4 · see citing works
Carbyn, H., Hossain, A., Dias, R. L., Palmer, L. D., Ayoub, S., Lingley‐Pottie, P., McGrath, P. J., Rideout, A. L., Shugar, A. L., Cytrynbaum, C. S., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03955-2 · Cited by 3 · see citing works
Remarques épistémologiques et cliniques sur la notion de vulnérabilité psychotique
Troubé, S., Potier, R., & Putois, O. (2018) · Neuropsychiatrie de l Enfance et de l Adolescence · doi:10.1016/j.neurenf.2018.02.001 · Cited by 3 · see citing works
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van Silfhout, N. Y., van Muilekom, M. M., van Karnebeek, C., Haverman, L., & van Eeghen, A. M. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09647-z · Cited by 2 · see citing works
Genetic Basis of Auditory Verbal Hallucinations in Schizophrenia
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Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis
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Self-citationDifferential diagnosis and comorbid physical illness of schizophrenia
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Self-citationCognitive development and risk for psychopathology in 22q11.2 Deletion Syndrome
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Psychiatric profile in children and youth with 22q11.2 deletion syndrome
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Moore, T. M., Salzer, D., Bearden, C. E., Calkins, M. E., Kates, W. R., Kushan, L., Gallagher, R. S., Sofrin-Frumer, D., Weinberger, R., McDonald-McGinn, D. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14782852
- Authors
- Schneider, M., Armando, M., Pontillo, M., Vicari, S., Debbané, M., Schultze‐Lutter, F., & Eliez, S.
- Affiliations
- KU Leuven (BE)
- Bambino Gesù Children's Hospital (IT)
- University of Geneva (CH)
- University of Bern (CH)
- Developmental Imaging and Psychopathology Lab Geneva Switzerland
- ORCID
- Venue
- World Psychiatry
- Publisher
- Wiley
- Published
- 2016-09-22
- Volume
- 15
- Issue
- 3
- Pages
- 259-265
- ISSN
- 1723-8617 (ISSN-L)
- 2051-5545
- PMC
- PMC5032509
- OpenAlex
- W2523134660
- Cited by
- 63
- References
- 49
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 4 · 2023: 2 · 2022: 5 · 2021: 12 · 2020: 7 · 2019: 4 · 2018: 11 · 2017: 10 · 2015: 1
- FWCI
- 7.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- World Psychiatry (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Bern Open Repository and Information System (University of Bern) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Lirias (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- Swiss National Science Foundation (324730_121996 and 324730_144260, 162006)
- The National Centre of Competence in Research
- The Brain and Behavior Research Foundation (21278)
- National Institute of Mental Health International Consortium on Brain and Behavior (5U01MH101722-02)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Social Sciences › Psychology › Clinical Psychology › Psychopathy, Forensic Psychiatry, Sexual Offending
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- 22q11.2 deletion syndrome, clinical high risk for psychosis, transition to psychosis, psychosis prediction, schizophrenia, level of functioning, anxiety disorders, psychopathology, clinical high risk
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