Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist.

ABSTRACT: Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized. Impaired sleep is a frequent problem in subjects with inborn errors of metabolism as well as in a variety of genetic disorders; however, they are commonly either missed or underestimated. Moreover, the complex clinical presentation and the frequently life-threatening symptoms are so overwhelming that sleep and its quality may be easily dismissed. Even centers, which specialize in rare genetic-metabolic disorders, are expected to see only few patients with a particular syndrome, a fact that significantly contributes to the under-diagnosis and treatment of impaired sleep in this particular population. Many of those

SUBMITTER: Gadoth N 

PROVIDER: S-EPMC4101612 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature