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In a cross\u2010sectional study (age range, 3\u201071\u2009years), analysis of covariance (ANCOVA) determined the association between outcomes in five cognitive domains (global intelligence, executive functions, memory, visuomotor integration, visual perception) and sex, age at testing and timing of disease onset defined as early onset (\u226428\u2009days; EO), late onset (LO), or asymptomatic (AS). The dataset of 183 subjects with complete datasets (31 males, 152 females) revealed underrepresentation of EO subjects (2 males, 4 females), who were excluded from the ANCOVA. Although mean scores of LO and AS individuals were within 1 SD of the population norm, AS subjects attained significantly higher scores than LO subjects and males higher scores than females. Correlations between cognitive domains were high, particularly intelligence proved to be a distinguished indicator for cognitive functioning. Maximum plasma ammonium concentration and intelligence correlated significantly higher in EO (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.47) than in LO subjects (<jats:italic>r<\/jats:italic>\u2009=\u20090.04). Correlation between the number of hyperammonemic events and intelligence scores were similar for EO (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.30) and LO (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.26) individuals. The number of clinical symptoms was significantly associated with intelligence (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.28) but not with scores in other domains. Results suggest that OTCD has a global impact on cognitive functioning rather than a specific effect on distinct cognitive domains.<\/jats:p>","DOI":"10.1002\/jimd.12013","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T07:55:22Z","timestamp":1548316522000},"page":"243-253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain\u2010specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events"],"prefix":"10.1002","volume":"42","author":[{"given":"Corinna","family":"Buerger","sequence":"first","affiliation":[{"name":"Division of Neuropaediatrics and Inherited Metabolic Diseases Centre for Child and Adolescent Medicine, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven F.","family":"Garbade","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Inherited Metabolic Diseases Centre for Child and Adolescent Medicine, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Dietrich Alber","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Centre University Children's Hospital Zurich  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan E.","family":"Waisbren","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Children's Hospital and Harvard Medical School  Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"McCarter","sequence":"additional","affiliation":[{"name":"Center for Translational Sciences, Children's National Health System The George Washington University  Washington District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Inherited Metabolic Diseases Centre for Child and Adolescent Medicine, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0665-8025","authenticated-orcid":false,"given":"Peter","family":"Burgard","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Inherited Metabolic Diseases Centre for Child and Adolescent Medicine, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"on behalf of the Urea Cycle Disorders Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,1,22]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.122394"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00923.x"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.008"},{"key":"e_1_2_12_5_1","unstructured":"OMIMOnline Mendelian Inheritance in Man. 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