Department of Pediatrics at Baylor College of Medicine, Houston, TX, USA.
Section of Pediatric Pulmonary at Texas Children's Hospital, Houston, TX, USA.
CNS Drugs. 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5.
Smith-Magenis syndrome is a genetic disorder caused by a microdeletion involving the retinoic acid-induced 1 (RAI1) gene that maps on the short arm of chromosome 17p11.2 or a pathogenic mutation of RAI1. Smith-Magenis syndrome affects patients through numerous congenital anomalies, intellectual disabilities, behavioral challenges, and sleep disturbances. The sleep abnormalities associated with Smith-Magenis syndrome can include frequent nocturnal arousals, early morning awakenings, and sleep attacks during the day. The sleep problems associated with Smith-Magenis syndrome are attributed to haploinsufficiency of the RAI1 gene. One consequence of reduced function of RAI1, and characteristic of Smith-Magenis syndrome, is an inversion of melatonin secretion resulting in a diurnal rather than nocturnal pattern. Treatment of sleep problems in people with Smith-Magenis syndrome generally involves a combination of sleep hygiene techniques, supplemental melatonin, and/or other medications, such as melatonin receptor agonists, β-adrenergic antagonists, and stimulant medications, to improve sleep outcomes. Improvement in sleep has been shown to improve behavioral outcomes, which in turn improves the quality of life for both patients and their caregivers.
史密斯-马根尼斯综合征是一种由涉及视黄酸诱导 1 号基因（RAI1）的微缺失或 RAI1 的致病突变引起的遗传疾病，该基因定位于 17p11.2 号染色体的短臂上。史密斯-马根尼斯综合征通过多种先天异常、智力障碍、行为挑战和睡眠障碍影响患者。与史密斯-马根尼斯综合征相关的睡眠异常可能包括夜间频繁觉醒、清晨早醒和白天睡眠发作。与史密斯-马根尼斯综合征相关的睡眠问题归因于 RAI1 基因的单倍不足。RAI1 功能降低的一个后果，也是史密斯-马根尼斯综合征的特征，是褪黑素分泌的反转，导致昼夜而非夜间模式。治疗史密斯-马根尼斯综合征患者的睡眠问题通常涉及睡眠卫生技术、补充褪黑素和/或其他药物的组合，如褪黑素受体激动剂、β-肾上腺素能拮抗剂和兴奋剂药物，以改善睡眠结果。睡眠的改善已被证明可以改善行为结果，从而提高患者及其护理人员的生活质量。
