Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.

ABSTRACT:

Objective

Niemann-Pick disease type C1 (NPC1) is a lysosomal storage disease characterized by progressive neurodegeneration, with the age of diagnosis ranging from the prenatal period through adulthood. Although neurological symptoms usually precede genetic diagnosis, they do not necessarily prompt diagnosis in the early years. Few prospective data are available to describe neurological onset, including neurodevelopmental delays, in children with NPC1. This dearth of information hinders the planning and implementation of adequate monitoring and treatment for the neurodevelopmental sequelae of NPC1.

Method

Twenty-nine infants, toddlers, and preschoolers younger than 6 years participated in a natural history study and were administered neurodevelopmental assessments using inst

SUBMITTER: Thurm A 

PROVIDER: S-EPMC7592416 | biostudies-literature | 2020 Jun/Jul

REPOSITORIES: biostudies-literature