Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Male; Humans; Female; Child Preschool; Emotions; Quality of Life; Intellectual Disability/etiology/metabolism; Mental Disorders/etiology/metabolism; Metabolic Diseases/complications/metabolism; Metabolism Inborn Errors/complications/metabolism; Ornithine Carbamoyltransferase Deficiency Disease/complications/metabolism; Urea Cycle Disorders Inborn/complications/metabolism; alertness; behavioral problems; bowel incontinence; feeding difficulties; sleep disturbance; urinary incontinence; trajectory; characteristics; emotional problems
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.
Jamiolkowski D; Kolker S; Glahn E M; Baric I; Zeman J; Baumgartner M R; Muhlhausen C; Garcia-Cazorla A; Gleich F; Haege G; Burgard P
Journal of Inherited Metabolic Disease
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s10545-015-9887-8" target="_blank" rel="noreferrer noopener">10.1007/s10545-015-9887-8</a>
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type i
adolescent; cognition; cross sectional study; Dystonia; metabolic disorder; human; article; child; female; male; controlled study; adult; clinical article; dystonia/di [Diagnosis]; Barry Albright Dystonia Scale; cognitive development; Cognitive development; continuous performance test; enzyme deficiency; glutaric aciduria type I; Glutaric aciduria type I; Information processing; motor dysfunction; motor performance; neurologic disease assessment; newborn screening; response time; visual memory; visuomotor coordination; working memory; tone and motor problems; Glutaric acidemia type I; trajectory; characteristics
Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail. Methods: Thirty patients detected by newborn screening (n = 13), high-risk screening (n = 3) or targeted metabolic testing (n = 14) were studied for simple reaction time (SRT), continuous performance (CP), visual working memory (VWM), visual-motor coordination (Tracking) and visual search (VS). Dystonia (n = 13 patients) was categorized using the Barry-Albright-Dystonia Scale (BADS). Patients were compared with 196 healthy controls. Developmental functions of cognitive performances were analysed using a negative exponential function model. Results: BADS scores correlated with speed tests but not with tests measuring stability or higher cognitive functions without time constraints. Developmental functions of GA-I patients significantly differed from controls for SRT and VS but not for VWM and showed obvious trends for CP and Tracking. Dystonic patients were slower in SRT and CP but reached their asymptote of performance similar to asymptomatic patients and controls in all tests. Asymptomatic patients did not differ from controls, except showing significantly better results in Tracking and a trend for slower reactions in visual search. Data across all age groups of patients and controls fitted well to a model of negative exponential development. Conclusions: Dystonic patients predominantly showed motor speed impairment, whereas performance improved with higher cognitive load. Patients without motor symptoms did not differ from controls. Developmental functions of cognitive performances were similar in patients and controls. Performance in tests with higher cognitive demand might be preserved in GA-I, even in patients with striatal degeneration. Copyright © 2015 Boy et al.
Boy N; Heringer J; Haege G; Glahn E M; Hoffmann G F; Garbade S F; Kolker S; Burgard P
Orphanet Journal of Rare Diseases
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1186/s13023-015-0379-6" target="_blank" rel="noreferrer noopener">10.1186/s13023-015-0379-6</a>