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Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn\u2010CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (\n                    <jats:italic>M<\/jats:italic>\n                    <jats:sub>Age<\/jats:sub>\n                    \u2009=\u200919.2\u2009years, 49.1% male), 30 22qDup carriers (\n                    <jats:italic>M<\/jats:italic>\n                    <jats:sub>Age<\/jats:sub>\n                    \u2009=\u200917.3\u2009years, 53.3% male), and 41 typically developing (TD) subjects (\n                    <jats:italic>M<\/jats:italic>\n                    <jats:sub>Age<\/jats:sub>\n                    \u2009=\u200917.3\u2009years, 39.0% male). We performed linear mixed models to assess group differences in overall neurocognitive profiles, domain scores, and individual test scores. We found all three groups exhibited distinct overall neurocognitive profiles. 22qDel and 22qDup carriers showed significant accuracy deficits across all domains relative to controls (episodic memory, executive function, complex cognition, social cognition, and sensorimotor speed), with 22qDel carriers exhibiting more severe accuracy deficits, particularly in episodic memory. However, 22qDup carriers generally showed greater slowing than 22qDel carriers. Notably, slower social cognition speed was uniquely associated with increased global psychopathology and poorer psychosocial functioning in 22qDup. Compared to TD, 22q11.2 copy number variants (CNV) carriers failed to show age\u2010associated improvements in multiple cognitive domains. Exploratory analyses revealed 22q11.2 CNV carriers with ASD exhibited differential neurocognitive profiles, based on 22q11.2 copy number. These results suggest that there are distinct neurocognitive profiles associated with either a loss or gain of genomic material at the 22q11.2 locus.\n                  <\/jats:p>","DOI":"10.1002\/aur.3049","type":"journal-article","created":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T20:31:05Z","timestamp":1700857865000},"page":"2247-2262","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus"],"prefix":"10.1002","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2556-6444","authenticated-orcid":false,"given":"Kathleen P.","family":"O'Hora","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior University of California  Los Angeles California USA"},{"name":"Neuroscience Interdepartmental Program University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Kushan\u2010Wells","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles H.","family":"Schleifer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior University of California  Los Angeles California USA"},{"name":"Neuroscience Interdepartmental Program University of California  Los Angeles California USA"},{"name":"David Geffen School of Medicine University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shayne","family":"Cruz","sequence":"additional","affiliation":[{"name":"College of Natural and Agricultural Science University of California  Riverside California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil D.","family":"Hoftman","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Jalbrzikowski","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Psychiatry Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel E.","family":"Gur","sequence":"additional","affiliation":[{"name":"Department of Psychiatry University of Pennsylvania and the Penn\u2010CHOP Lifespan and Brain Institute  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben C.","family":"Gur","sequence":"additional","affiliation":[{"name":"Department of Psychiatry University of Pennsylvania and the Penn\u2010CHOP Lifespan and Brain Institute  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie E.","family":"Bearden","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior University of California  Los Angeles California USA"},{"name":"Department of Psychology University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,23]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"429","volume-title":"The use of psychological testing for treatment planning and outcomes assessment","author":"Achenbach T. 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