A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

Orphanet Journal of Rare Diseases

Peter Burgard²  Stefan Kölker²  Sven F. Garbade¹  Georg F. Hoffmann²  Esther M. Glahn²  Gisela Haege²  Jana Heringer²  Nikolas Boy² 

[1] Faculty of Applied Psychology, SRH University of Applied Sciences, Heidelberg, D-69123, Germany;Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, D-69120, Germany

关键词: Dystonia;    Information processing;    Cognitive development;    Glutaric aciduria type I;   

Others  :  1235011
DOI  :  10.1186/s13023-015-0379-6

 received in 2015-06-17, accepted in 2015-12-14,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Boy et al.

【 图 表 】

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