Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy.

Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS): discrete and regression-based norms for the Brazilian context.

Background: The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) has been recently developed as a brief, practical, and feasible tool for cognitive impairment in multiple sclerosis (MS).

Objective: This study aimed to provide continuous and discrete normative values for the BICAMS in the Brazilian context.

Methods: Normatization was achieved using six hundred and one healthy controls from the community assessed at five Brazilian geopolitical regions.