GLUT1DS focus on dysarthria

• Published in: European journal of paediatric neurology 2024-07, Vol.51, p.62-70
• Main Authors: Corradini, Miriam, Zanaboni, Martina Paola, Varesio, Costanza, Celario, Massimiliano, Capelli, Elena, Giudice, Carla, Quaranta, Carlo Alberto, Mensi, Martina Maria, Pasca, Ludovica, De Giorgis, Valentina
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors - complications; Carbohydrate Metabolism, Inborn Errors - diagnosis; Carbohydrate Metabolism, Inborn Errors - genetics; Child; Child, Preschool; Dysarthria; Dysarthria - etiology; Dysarthria - genetics; Female; Glucose Transporter Type 1 - deficiency; Glucose Transporter Type 1 - genetics; GLUT 1 transporter deficiency syndrome GLUT1DS; Humans; Male; Monosaccharide Transport Proteins - deficiency; Monosaccharide Transport Proteins - genetics; Speech; Young Adult
• ISSN: 1090-3798; 1532-2130; 1532-2130
• DOI: 10.1016/j.ejpn.2024.05.010

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. 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. 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. •The purpose of this study is to analyze and characterize the speech profile of a sample of patients with GLUT1DS.•The majority of the patients manifested dysarthria with different levels of severity.•A relationship between genotype and dysartric level of impairment was found.•The introduction of the ketogenic diet therapy might be a protective factor for cognitive outcomes in patients with GLUT1DS.