Cover Image

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

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 functioni...

Full description

Saved in:
Bibliographic Details
Main Authors: Jamiolkowski, Dagmar (Author) , Kölker, Stefan (Author) , Glahn, Esther M. (Author) , Barić, Ivo (Author) , Zeman, Jiri (Author) , Baumgartner, Matthias R. (Author) , Mühlhausen, Chris (Author) , Garcia‐Cazorla, Angels (Author) , Gleich, Florian (Author) , Haege, Gisela (Author) , Burgard, Peter (Author)
Format: Article (Journal)
Language:English
Published: [2016]
In: Journal of inherited metabolic disease
Year: 2015, Volume: 39, Issue: 2, Pages: 231-241
ISSN:1573-2665
DOI:10.1007/s10545-015-9887-8
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10545-015-9887-8
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1007/s10545-015-9887-8
Get full text
Author Notes: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
Description
Summary: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.
Item Description:Published online: 27 August 2015
Gesehen am 30.04.2020
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1007/s10545-015-9887-8

Similar Items