Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven ‘risk’, inform prognosis and enhance understanding of aetiology of sleep disorders. Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader–Willi, Rett, Smith–Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72–77%), while excessive daytime sleepiness was highest in Smith–Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual’s environment or associated developmental delay, rather than any specific genetic syndromes. Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader–Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed.

中文翻译：

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罕见遗传综合征中的睡眠障碍：患病率和概况的荟萃分析

睡眠障碍在智障 (ID) 和自闭症患者中很常见，越来越多的证据表明 ID 相关遗传综合征的睡眠状况多种多样。记录综合征中特定睡眠障碍的患病率和概况将量化综合征驱动的“风险”，告知预后并增强对睡眠障碍病因的理解。遵循 PRISMA 元分析指南，我们使用特定于综合征的关键字和 60 个与睡眠相关的搜索词搜索了 Ovid PsycINFO、Ovid MEDLINE、Ovid Embase、Web of Science 和 PubMed Central。我们筛选并提取了报告了遗传综合征中五个或更多个体的睡眠障碍患病率数据的论文，并应用质量标准来生成跨越 19 种综合征的六种睡眠障碍的质量效应患病率模型。计算每种综合征中每种睡眠障碍的患病率的相对风险估计值。确定了 273 篇论文，生成了 463 份关于 Angelman、CHARGE、Cornelia de Lange、Down、脆性 X、Prader-Willi、Rett、Smith-Magenis 和 Williams 综合征、粘多糖病（MPS 疾病）、神经纤维瘤病和结节性硬化症的患病率估计值复杂的。除了少数例外，遗传综合征的患病率估计值高于已发表的典型发育个体的等效值。某些疾病的综合征间差异很明显；睡眠呼吸障碍在 MPS 疾病中最为普遍（72-77%），而白天过度嗜睡在 Smith-Magenis 综合征中最高（60%）。反之，失眠，在除脆性 X 之外的所有综合征中，其报告的比率高于 TD 估计值，与特定的遗传风险无关。这表明失眠的出现可能是由于个人的环境或相关的发育迟缓，而不是任何特定的遗传综合征。由于荟萃分析的范围很广，因此仅包括先前确定为报告初步睡眠研究的综合征。其他综合征也可能会出现特定类型睡眠障碍的患病率升高。只包括英文论文。睡眠障碍类型之间的不同患病率表明不同的因果机制，例如唐氏和普拉德-威利综合征中的颅面形态以及 MPS 疾病中粘多糖的积累。