Abstract:
Intellectual disability is defined as limitations in cognitive and adaptive behavior that often arise during development. Disordered sleep is common in intellectual disability and, given the importance of sleep for cognitive function, it may contribute to other behavioral phenotypes. Animal models of intellectual disability, in particular of monogenic intellectual disability syndromes (MIDS), recapitulate many disease phenotypes and have been invaluable for linking some of these phenotypes to specific molecular pathways. An emerging feature of MIDS, in both animal models and humans, is the prevalence of metabolic abnormalities, which could be relevant for behavior. Focusing on specific MIDS that have been molecularly characterized, we review sleep, circadian, and metabolic phenotypes in animal models and humans and propose that altered metabolic state contributes to the abnormal sleep/circadian phenotypes in MIDS.
摘要:
智力障碍被定义为在发育过程中经常出现的认知和适应性行为的限制。睡眠障碍在智力障碍中很常见,考虑到睡眠对认知功能的重要性,它可能有助于其他行为表型。智力残疾的动物模型,特别是单基因智力障碍综合征(MIDS),概括了许多疾病表型,并且对于将其中一些表型与特定的分子途径联系起来非常有价值。MIDS的一个新兴特征,在动物模型和人类中,是代谢异常的患病率,这可能与行为有关。专注于已被分子表征的特定MIDS,我们回顾睡眠,昼夜节律,以及动物模型和人类中的代谢表型,并提出代谢状态的改变有助于MIDS中异常的睡眠/昼夜节律表型。