Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.

ABSTRACT:

Background

Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. Clinical, biochemical and genetic data in a cohort of familial Glut1-DS cases were collected from medical records. Intelligence was assessed using Raven's Standard Progressive Matrices and Raven's Colored Progressive Matrices in adults and children, respectively. An ad hoc interview focusing on life achievements and the World Health Organization Quality of Life Questionnaire were administered to adult subjects.

Results

The clinical picture in adults was characterized by paroxysmal exerci

SUBMITTER: Olivotto S 

PROVIDER: S-EPMC9509642 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature