Open AccessNeurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1
Author(s) -
Audrey Thurm,
Colby Chlebowski,
Lisa Joseph,
Cristan Farmer,
Dee Adedipe,
Madison Weiss,
Edythe Wiggs,
Nicole Y. Farhat,
Simona Bianconi,
Elizabeth BerryKravis,
Forbes D. Porter
Publication year - 2020
Publication title -
journal of developmental and behavioral pediatrics/journal of developmental and behavioral pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.77
H-Index - 105
eISSN - 1536-7312
pISSN - 0196-206X
DOI - 10.1097/dbp.0000000000000785
Subject(s) - medicine , pediatrics , disease
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.