Dosier Laura Beth Mann, Vaughn Bradley V, Fan Zheng
Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Children (Basel). 2017 Sep 12;4(9):82. doi: 10.3390/children4090082.
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.
在过去三十年里,遗传学进展改变了我们对包括神经遗传性疾病在内的许多人类疾病的理解和治疗方式。大多数神经遗传性疾病可归类为“罕见病”,但总体而言,神经遗传性疾病并不罕见,在普通儿科实践中很常见。作者决定选取八种相对知名的神经遗传性疾病,包括唐氏综合征、天使综合征、普拉德-威利综合征、史密斯-马吉尼斯综合征、先天性中枢性低通气综合征、软骨发育不全、黏多糖贮积症和杜兴氏肌营养不良症。每种疾病都按以下格式呈现:概述、临床特征、发育方面、相关睡眠障碍、管理以及研究/未来方向。