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Sleep Disorders in Childhood Neurogenetic Disorders

Overview
Specialty Health Services
Date 2017 Sep 13
PMID 28895939
Citations 2
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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.

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References
1.
Villanova M, Brancalion B, Mehta A . Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support. Am J Phys Med Rehabil. 2014; 93(7):595-9. DOI: 10.1097/PHM.0000000000000074. View

2.
Ricotti V, Mandy W, Scoto M, Pane M, Deconinck N, Messina S . Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2015; 58(1):77-84. DOI: 10.1111/dmcn.12922. View

3.
Hoque R . Sleep-Disordered Breathing in Duchenne Muscular Dystrophy: An Assessment of the Literature. J Clin Sleep Med. 2016; 12(6):905-11. PMC: 4877324. DOI: 10.5664/jcsm.5898. View

4.
White K, Parnell S, Kifle Y, Blackledge M, Bompadre V . Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?. Am J Med Genet A. 2015; 170A(1):32-41. DOI: 10.1002/ajmg.a.37385. View

5.
Aartsma-Rus A, Krieg A . FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga. Nucleic Acid Ther. 2016; 27(1):1-3. PMC: 5312460. DOI: 10.1089/nat.2016.0657. View