GLUT1DS: focus on motor profile

Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disease caused by mutations in the SLC2A1 gene, that limits the transport of glucose across the blood-brain barrier. Epilepsy, intellectual disability, movement disorders and coordination disorder are common characteristics found in the syndrome.

This study aims to describe the motor profile in a cohort of patients with GLUT1DS throughout the administration of Movement Assessment Battery for Children version 2 (MABC-2).

The MABC-2 test was assessed in 31 patients with GLUT1DS.

Our sample performed in the clinical range across all the subscales and summary scores of the MABC-2 Test demonstrated an impaired motor performance.

Despite the use of use of MABC-2 scores in adults despite age-related norms, and the potential influence of cognitive impairments on task comprehension and performance, which may affect the interpretation of motor outcomes we observed that patients with more complex and severe clinical pictures are those with major motor impairment. The high percentage of impaired performances in motor functioning observed in our population may have significant implications in terms of their long-term health and well being. Early identification of patient with GLUT1DS at risk of motor impairment is crucial to activate interventions to support cognitive, social and emotional development of the patient.