Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

• Verfasst von: Jamiolkowski, Dagmar [VerfasserIn]
• Verfasst von: Kölker, Stefan [VerfasserIn]
• Verfasst von: Glahn, Esther M. [VerfasserIn]
• Verfasst von: Barić, Ivo [VerfasserIn]
• Verfasst von: Zeman, Jiri [VerfasserIn]
• Verfasst von: Baumgartner, Matthias R. [VerfasserIn]
• Verfasst von: Mühlhausen, Chris [VerfasserIn]
• Verfasst von: Garcia‐Cazorla, Angels [VerfasserIn]
• Verfasst von: Gleich, Florian [VerfasserIn]
• Verfasst von: Haege, Gisela [VerfasserIn]
• Verfasst von: Burgard, Peter [VerfasserIn]
• Titel: Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
• Verf.angabe: Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner, Chris Mühlhausen, Angels Garcia‐Cazorla, Florian Gleich, Gisela Haege, Peter Burgard on behalf of the E-IMD Consortium
• E-Jahr: 2016
• Jahr: [2016]
• Jahr des Originals: 2015
• Umfang: 11 S.
• Illustrationen: Diagramme
• Fussnoten: Published online: 27 August 2015 ; Gesehen am 30.04.2020
• Titel Quelle: Enthalten in: Journal of inherited metabolic disease
• Ort Quelle: Hoboken, NJ : Wiley, 1978
• Jahr Quelle: 2016
• Band/Heft Quelle: 39(2016), 2, Seite 231-241
• ISSN Quelle: 1573-2665
• DOI: doi:10.1007/s10545-015-9887-8
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1696976383

Abstract

Background 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-related quality of life (HRQoL), and how these domains are connected. Methods Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data. Results Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked 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 ≤ 70) 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 = 6.24, 95 %CI: 1.39-27.99), but HRQoL was independent from both variables. Conclusions 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’ 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.