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Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11.2 deletion. As in the general population, catatonic features in 22q11.2DS occurred in individuals with schizophrenia, other psychotic and non\u2010psychotic psychiatric disorders, and neurological disorders like Parkinson's disease. We place the results in the context of an updated review of catatonia in other genetic conditions. The complex neuropsychiatric expression and risk profile of 22q11.2DS highlights the need to consider co\u2010morbid factors and provide care tailored to the individual patient. The results reinforce the need for periodic monitoring for the emergence of psychiatric and neurological manifestations including catatonic features. Pending further research, enhanced recognition and informed anticipatory care promise to facilitate the early diagnosis that allows for timely implementation and optimization of effective treatments.<\/jats:p>","DOI":"10.1002\/ajmg.a.38708","type":"journal-article","created":{"date-parts":[[2018,5,19]],"date-time":"2018-05-19T05:40:15Z","timestamp":1526708415000},"page":"2146-2159","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5152-0108","authenticated-orcid":false,"given":"Nancy J.","family":"Butcher","sequence":"first","affiliation":[{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health Toronto, Ontario Canada"},{"name":"The 22q and You Center, Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0593-1539","authenticated-orcid":false,"given":"Erik","family":"Boot","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome University Health Network Toronto Ontario Canada"},{"name":"De Hartekamp Groep Centre for People with Intellectual Disability Haarlem The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Centre and Krembil Research Institute Toronto Western Hospital and the Edmond J. 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