Schizophrenia in 22q
Psychosis/Schizophrenia associated with 22q11.2
Psychosis occurs when a person has symptoms which affect the mind (a loss of connection with reality, disrupted thoughts and perceptions.) People experiencing psychosis may see or hear things that others cannot (hallucinations) or believe things that are not true (delusions)
Schizophrenia is a mental health condition that can impact what a person thinks and feels and how they act. Psychosis can be a component of schizophrenia, but it is not the only symptom. While it can affect people differently, schizophrenia may also include negative symptoms (such as lack of motivation or ability to engage in normal activities of living) and cognitive issues (such as processing information and paying attention).
In the 1990s, early reports began to emerge of schizophrenia noted in people with 22q11.2 deletion syndrome. Today, researchers have a better understanding of the connection and suggest that there is an approximately 25% risk for people with 22q11.2 deletion syndrome to develop psychosis/schizophrenia by adulthood.
Study finds biomarkers for psychiatric symptoms in patients with rare genetic condition 22q UC Davis Health article.
In addition to supports for 22q, families may benefit from seeking support from other groups:
Schizophrenia Society of Canada
Centre for Addictions and Mental Health – CAMH – Schizophrenia
Centre for Addictions and Mental Health -CAMH psychosis
Search PUBMED for articles on 22q and psychosis
Select References:
Antshel, K. M., Fremont, W., Ramanathan, S., & Kates, W. R. (2017). Predicting Cognition and Psychosis in Young Adults With 22q11.2 Deletion Syndrome. Schizophrenia Bulletin, 43(4), 833–842. https://doi.org/10.1093/schbul/sbw135
Bassett, A. S., Hodgkinson, K., Chow, E. W., Correia, S., Scutt, L. E., & Weksberg, R. (1998). 22q11 deletion syndrome in adults with schizophrenia. American Journal of Medical Genetics, 81(4), 328–337.
Gur, R. E., McDonald-McGinn, D. M., Moore, T. M., Gallagher, R. S., McClellan, E., White, L., Ruparel, K., Hillman, N., Crowley, T. B., McGinn, D. E., Zackai, E., Emanuel, B. S., Calkins, M. E., Roalf, D. R., & Gur, R. C. (2023). Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome. Psychological Medicine, 53(14), 1–10. Advance online publication. https://doi.org/10.1017/S0033291723000259
Gur, R. E., Roalf, D. R., Alexander-Bloch, A., McDonald-McGinn, D. M., & Gur, R. C. (2021). Pathways to understanding psychosis through rare – 22q11.2DS – and common variants. Current Opinion in Genetics & Development, 68, 35–40. https://doi.org/10.1016/j.gde.2021.01.007
Iftimovici, A., Krebs, M. O., & Chaumette, B. (2022). Clinical management of psychosis in 22q11.2 deletion syndrome. Journal of Psychiatry & Neuroscience : JPN, 47(6), E391–E392. https://doi.org/10.1503/jpn.220091
Kulikova, K., Schneider, M., McDonald McGinn, D. M., Dar, S., Taler, M., Schwartz-Lifshitz, M., Eliez, S., Gur, R. E., & Gothelf, D. (2024). The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up. European Child & Adolescent Psychiatry, 10.1007/s00787-024-02469-9. Advance online publication. https://doi.org/10.1007/s00787-024-02469-9
Mosheva, M., Korotkin, L., Gur, R. E., Weizman, A., & Gothelf, D. (2020). Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review. European Child & Adolescent Pisychiatry, 29(8), 1035–1048. https://doi.org/10.1007/s00787-019-01326-4
Provenzani, U., Damiani, S., Bersano, I., Singh, S., Moschillo, A., Accinni, T., Brondino, N., Oliver, D., & Fusar-Poli, P. (2022). Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis. International Review of Psychiatry (Abingdon, England), 34(7-8), 676–688. https://doi.org/10.1080/09540261.2022.2123273
Roalf, D. R., McDonald-McGinn, D. M., Jee, J., Krall, M., Crowley, T. B., Moberg, P. J., Kohler, C., Calkins, M. E., Crow, A. J. D., Fleischer, N., Gallagher, R. S., Gonzenbach, V., Clark, K., Gur, R. C., McClellan, E., McGinn, D. E., Mordy, A., Ruparel, K., Turetsky, B. I., Shinohara, R. T., … Gur, R. E. (2024). Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders. Journal of Neurodevelopmental disorders, 16(1), 35. https://doi.org/10.1186/s11689-024-09547-8
Supekar, K., de Los Angeles, C., Ryali, S., Kushan, L., Schleifer, C., Repetto, G., Crossley, N. A., Simon, T., Bearden, C. E., & Menon, V. (2024). Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study. Molecular Psychiatry, 10.1038/s41380-024-02495-8. Advance online publication. https://doi.org/10.1038/s41380-024-02495-8
Tang, S. X., & Gur, R. E. (2018). Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, 176(10), 2192–2202. https://doi.org/10.1002/ajmg.a.38500
Tang, S. X., Moore, T. M., Calkins, M. E., Yi, J. J., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. C., & Gur, R. E. (2017). Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome. Translational Psychiatry, 7(7), e1180. https://doi.org/10.1038/tp.2017.157
Tanham, M., Chen, R., Warren, N., Heussler, H., & Scott, J. G. (2024). The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review. The Australian and New Zealand Journal of Psychiatry, 58(5), 393–403. https://doi.org/10.1177/00048674241233118
Vorstman, J. A., Breetvelt, E. J., Duijff, S. N., Eliez, S., Schneider, M., Jalbrzikowski, M., Armando, M., Vicari, S., Shashi, V., Hooper, S. R., Chow, E. W., Fung, W. L., Butcher, N. J., Young, D. A., McDonald-McGinn, D. M., Vogels, A., van Amelsvoort, T., Gothelf, D., Weinberger, R., Weizman, A., … International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome (2015). Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry, 72(4), 377–385. https://doi.org/10.1001/jamapsychiatry.2014.2671
Zafarullah, M., Angkustsiri, K., Quach, A., Yeo, S., Durbin-Johnson, B. P., Bowling, H., & Tassone, F. (2024). Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome. Metabolomics:Official Journal of the Metabolomic Society, 20(2), 31. https://doi.org/10.1007/s11306-024-02088-0