Sleep Disorders in Childhood Neurogenetic Disorders
Abstract
Genetic advances in the past three decades have transformed our understanding and
treatment of many human diseases including neurogenetic disorders. Most neurogenetic
disorders can be classified as "rare disease," but collectively neurogenetic disorders
are not rare and are commonly encountered in general pediatric practice. The authors
decided to select eight relatively well-known neurogenetic disorders including Down
syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital
central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne
muscular dystrophy. Each disorder is presented in the following format: overview,
clinical characteristics, developmental aspects, associated sleep disorders, management
and research/future directions.
Type
Journal articleSubject
NeurogeneticSleep
Neurodevelopmental
Angelman
Down Syndrome
Trisomy 21
Smith-Magenis
Muchopolysaccharidoses
Achondroplasia
Duchenne
Congenital Central hypoventilation
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https://hdl.handle.net/10161/19099Published Version (Please cite this version)
10.3390/children4090082Publication Info
Dosier, Laura; Vaughn, Bradley; & Fan, Zheng (2017). Sleep Disorders in Childhood Neurogenetic Disorders. Children, 4(9). 10.3390/children4090082. Retrieved from https://hdl.handle.net/10161/19099.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Laura Beth Dosier
Assistant Professor of Pediatrics
My research focuses on abnormal breathing in sleep including central sleep apnea,
obstructive sleep apnea, snoring, and abnormal sleep in children with complex medical
conditions.In my practice, I focus on pediatric diseases of the lungs and sleep. I
think that it is important to collaborate with primary care providers and families
to create individualized care plans for each of my patients.

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