{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T21:04:01Z","timestamp":1782421441409,"version":"3.54.5"},"reference-count":37,"publisher":"Cambridge University Press (CUP)","issue":"7","license":[{"start":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:00:00Z","timestamp":1644537600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Psychol. Med."],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S0033291721005201_sec_a1\"><jats:title>Background<\/jats:title><jats:p>Copy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood.<\/jats:p><\/jats:sec><jats:sec id=\"S0033291721005201_sec_a2\" sec-type=\"methods\"><jats:title>Methods<\/jats:title><jats:p>We investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics services, with carriers who were not. One hundred twenty-four adult participants (age 18\u201376), each bearing one of 15 rare CNVs, were recruited through a variety of sources including clinical genetics services, charities for carriers of genetic variants, and online advertising. A battery of psychiatric assessments was used to determine psychopathology.<\/jats:p><\/jats:sec><jats:sec id=\"S0033291721005201_sec_a3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>The frequencies of psychopathology were consistently higher for the CNV group compared to general population rates. We found particularly high rates of neurodevelopmental disorders (NDDs) (48%), mood disorders (42%), anxiety disorders (47%) and personality disorders (73%) as well as high rates of psychiatric multimorbidity (median number of diagnoses: 2 in non-probands, 3 in probands). NDDs [odds ratio (OR) = 4.67, 95% confidence interval (CI) 1.32\u201316.51; <jats:italic>p<\/jats:italic> = 0.017) and psychotic disorders (OR = 6.8, 95% CI 1.3\u201336.3; <jats:italic>p<\/jats:italic> = 0.025) occurred significantly more frequently in probands (<jats:italic>N<\/jats:italic> = 45; NDD: 39[87%]; psychosis: 8[18%]) than non-probands (<jats:italic>N<\/jats:italic> = 79; NDD: 20 [25%]; psychosis: 3[4%]). Participants also had somatic diagnoses pertaining to all organ systems, particularly conotruncal cardiac malformations (in individuals with 22q11.2 deletion syndrome specifically), musculoskeletal, immunological, and endocrine diseases.<\/jats:p><\/jats:sec><jats:sec id=\"S0033291721005201_sec_a4\" sec-type=\"conclusions\"><jats:title>Conclusions<\/jats:title><jats:p>Adult CNV carriers had a markedly increased rate of anxiety and personality disorders not previously reported and high rates of psychiatric multimorbidity. Our findings support in-depth psychiatric and medical assessments of carriers of CNVs and the establishment of multidisciplinary clinical services.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0033291721005201","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T08:06:21Z","timestamp":1644566781000},"page":"3142-3149","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":13,"title":["Psychopathology in adults with copy number variants"],"prefix":"10.1017","volume":"53","author":[{"given":"Rachael L.","family":"Adams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alister","family":"Baird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne B. 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