{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:40:28Z","timestamp":1790430028821,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,8,27]],"date-time":"2015-08-27T00:00:00Z","timestamp":1440633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,8,27]],"date-time":"2015-08-27T00:00:00Z","timestamp":1440633600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural\/emotional problems and health\u2010related quality of life (HRQoL), and how these domains are connected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data of 152 patients with OADs (<jats:italic>n<\/jats:italic>\u2009=\u2009100) and UCDs (<jats:italic>n<\/jats:italic>\u2009=\u200952) from the European Registry and Network of intoxication type Metabolic Diseases (E\u2010IMD) using standardized instruments were compared with normative data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Behavioural\/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X\u2010linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural\/emotional problems, not different from epidemiological data. Mental disability (IQ\u2009\u2264\u200970) was found in 31 % of OAD, 43 % of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural\/emotional problems were significantly associated with intellectual functioning (OR\u2009=\u20096.24, 95 %CI: 1.39\u201327.99), but HRQoL was independent from both variables.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with OADs and UCDs show increased frequencies of mental disability and behavioural\/emotional problems. Profiles of behavioural\/emotional problems were similar to epidemiological data. Intellectual disability and behavioural\/emotional problems were strongly associated. Patients\u2019 HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD\/UCD patients should be improved regarding behavioural\/emotional, intellectual and quality of life aspects.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-015-9887-8","type":"journal-article","created":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T11:30:56Z","timestamp":1440588656000},"page":"231-241","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Behavioural and emotional problems, intellectual impairment and health\u2010related quality of life in patients with organic acidurias and urea cycle disorders"],"prefix":"10.1002","volume":"39","author":[{"given":"Dagmar","family":"Jamiolkowski","sequence":"first","affiliation":[{"name":"Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine Heidelberg University Hospital Im Neuenheimer Feld 430 Heidelberg D\u201069120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine Heidelberg University Hospital Im Neuenheimer Feld 430 Heidelberg D\u201069120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther M.","family":"Glahn","sequence":"additional","affiliation":[{"name":"Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine Heidelberg University Hospital Im Neuenheimer Feld 430 Heidelberg D\u201069120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrcis University Hospital Center Zagreb &amp; 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