The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Autor:	Chris Mühlhausen, Peter Freisinger, Eva Thimm, Frank Rutsch, Skadi Beblo, Georg F. Hoffmann, Sylvia Roloff, Magdalena Walter, Stefan Kölker, Katharina A. Schiergens, Andrea Näke, Philipp Guder, Sven F. Garbade, Matthias R. Baumgartner, Esther M. Maier, Sarah C. Grünert, Anibh M. Das, Johannes Krämer, Nikolas Boy, Martin Lindner, Iris Marquardt, E. M. Charlotte Märtner, Claudia Haase, Andrea Dieckmann
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Male Pediatrics medicine.medical_specialty Adolescent Science Population Metabolic disorders Glutaric aciduria type 1 Paediatric research Risk Assessment Article Glutarates Young Adult Child Development Neonatal Screening Germany Cognitive development Humans Medicine Cognitive Dysfunction Prospective Studies Risk factor Child education Amino Acid Metabolism Inborn Errors Intelligence Tests education.field_of_study Newborn screening Multidisciplinary Glutaryl-CoA Dehydrogenase Intelligence quotient Brain Diseases Metabolic business.industry Infant Newborn Infant Cognition medicine.disease Publisher Correction Child Preschool Female Observational study business Follow-Up Studies
Zdroj:	Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021) Scientific Reports
ISSN:	2045-2322
Popis:	The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi-centre study includes 107 individuals with confirmed GA1 identified by newborn screening between 1999 and 2020 in Germany. Clinical status, development, and IQ were assessed using standardized tests. Impact of interventional and non-interventional parameters on cognitive outcome was evaluated. The majority of tested individuals (n = 72) showed stable IQ values with age (n = 56 with IQ test; median test age 11 years) but a significantly lower performance (median [IQR] IQ 87 [78–98]) than in general population, particularly in individuals with a biochemical high excreter phenotype (84 [75–96]) compared to the low excreter group (98 [92–105]; p = 0.0164). For all patients, IQ results were homogenous on subscale levels. Sex, clinical motor phenotype and quality of metabolic treatment had no impact on cognitive functions. Long-term neurologic outcome in GA1 involves both motor and cognitive functions. The biochemical high excreter phenotype is the major risk factor for cognitive impairment while cognitive functions do not appear to be impacted by current therapy and striatal damage. These findings implicate the necessity of new treatment concepts.
Databáze:	OpenAIRE
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