Author:
Märtner E. M. Charlotte,Thimm Eva,Guder Philipp,Schiergens Katharina A.,Rutsch Frank,Roloff Sylvia,Marquardt Iris,Das Anibh M.,Freisinger Peter,Grünert Sarah C.,Krämer Johannes,Baumgartner Matthias R.,Beblo Skadi,Haase Claudia,Dieckmann Andrea,Lindner Martin,Näke Andrea,Hoffmann Georg F.,Mühlhausen Chris,Walter Magdalena,Garbade Sven F.,Maier Esther M.,Kölker Stefan,Boy Nikolas
Abstract
AbstractThe 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.
Funder
Dietmar Hopp Foundation, St. Leon-Rot, Germany
German Ministry of Education and Research BMBF
Kindness for Kids Foundation
European Union
Universitätsklinikum Heidelberg
Publisher
Springer Science and Business Media LLC
Cited by
14 articles.
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