GLUT1DS focus on dysarthria.

Autor: Corradini M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Zanaboni MP; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Varesio C; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. Electronic address: costanza.varesio@mondino.it., Celario M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Capelli E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Giudice C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Headache Science and Neurorehabilitation Center, IRCCS Mondino Foundation, Pavia, Italy., Quaranta CA; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Mensi MM; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Pasca L; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., De Giorgis V; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Jazyk: angličtina
Zdroj: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jul; Vol. 51, pp. 62-70. Date of Electronic Publication: 2024 May 29.
DOI: 10.1016/j.ejpn.2024.05.010
Abstrakt: Research Purpose: GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS.
Results: 30 patients with GLUT1DS were recruited. We reported impairments in different speech and oromotor domains: the speech was characterized by dysarthria, inaccurate articulation of consonants, abnormal nasal resonance, errors in intonation and prosody and low intelligibility. We observed difficulties in motor planning and programming. Moreover, we observed a significant difference between the dysarthric level of impairment with genotype groups.
Conclusions: The presence of a speech disorder in patients with GLUT1DS represents a core feature of the syndrome. Our findings suggest that patients with GLUT1DS would benefit from a comprehensive neurocognitive assessment to detect strengths and weaknesses of the speech profile. Understanding the speech and language phenotype in GLUT1DS is critical for planning early intervention to positively influence the global development of patients with GLUT1DS.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Dr. Valentina De Giorgis has received financial support for lecture fees and research activities from Jazz Pharmaceuticals, Orion Pharma, UCB Pharma, Nutricia, Kanso and Vitaflo.
(Copyright © 2024. Published by Elsevier Ltd.)
Databáze: MEDLINE
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