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.
Highlights
Neurogenetic disorders represent a wide spectrum of diseases defined as “clinical diseases caused by a defect in one or more genes, which affects the differentiation and function of the neuroectoderm and its derivates” [1]
The authors decided to select eight relatively well-known, neurogenetic disorders to provide a high-yield review of disorders that are commonly encountered in general pediatric practice or that have sentinel and specific features of sleep disorders that should be addressed during comprehensive care visits
Obstructive sleep apnea (OSA) is the predominant phenotype of sleep disordered breathing at younger ages and sleep-related hypoventilation is present in most patients with Duchenne muscular dystrophy (DMD) at older ages, but there is significant overlap given risk factors for obesity and variability in progression of muscle weakness [96,97]
Summary
Neurogenetic disorders represent a wide spectrum of diseases defined as “clinical diseases caused by a defect in one or more genes, which affects the differentiation and function of the neuroectoderm and its derivates” [1]. 25% of typically-developing, preschool-aged children have sleep related problems, whereas the prevalence of sleep disorders in children with neurodevelopmental disorders can be as high as 80% [3,4]. Identification and treatment of sleep related disorders may significantly improve cognitive function or delay progression of underlying diseases for some patients with neurogenetic disorders [6,9,10,11,12]. It is important to understand the evaluation and management of sleep disorders related to pediatric neurogenetic disorders to improve patient and caregiver quality of life. The authors decided to select eight relatively well-known, neurogenetic disorders to provide a high-yield review of disorders that are commonly encountered in general pediatric practice or that have sentinel and specific features of sleep disorders that should be addressed during comprehensive care visits. Each disorder is presented in the following format: overview of genetics including inheritance patterns, diagnosis and molecular basis, clinical characteristics with a focus on sleep, developmental aspects, associated sleep disorders (as they relate to sleep architecture, circadian rhythm disturbances, sleep related breathing, nocturnal movements or events, management of sleep-related disorders), and research or future directions
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