Sleep Disorders in Childhood Neurogenetic Disorders

Abstract

enetic 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.

Keywords: Neurogenetic, Sleep, Neurodevelopmental, Angelman, Down syndrome, Trisomy 21, Smith–Magenis, Muchopolysaccharidosis, Achondroplasia, Duchenne, Congenital Central Hypoventilation.

Figure 1

Frequent mixed apneas in a patient with trisomy 21. This figure, from a polysomnogram obtained from a child with trisomy 21, shows repetitive mixed apneas with the central portion of the apnea delineated by the thin arrow and obstructive component indicated by the thick arrow. Note the absence of airflow in the nasal and oral channels. Each event is associated with an arousal, noted by the stars.

Figure 2

Hypercapnia in muscular dystrophy. This figure, from a polysomnogram of a child with Duchenne muscular dystrophy, shows persistent elevated CO₂ levels during sleep noted by the arrow.