Sleep Disorders in Childhood Neurogenetic Disorders
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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.
Congenital Central hypoventilation
Published Version (Please cite this version)10.3390/children4090082
Publication InfoDosier, 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.
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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.