Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a comprehensive scoping review of the relevant literature. Our findings suggest that many manifestations that are common in childhood persist into adulthood. Neuropsychiatric manifestations in adults with SMS include intellectual disability, autism spectrum- and attention deficit hyperactivity disorder-related features, self-injurious and physical aggressive behaviors, sleep–wake disorders, and seizures. Findings of this review may facilitate optimization of management strategies in adults with SMS, and may guide future studies exploring late-onset psychiatric and neurological comorbidities in SMS.

中文翻译：

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史密斯-马吉尼斯综合征成人的精神和神经学表现：范围界定综述

史密斯-马吉尼斯综合征 (SMS) 是一种由 17p11.2 缺失或位于 17p11.2 区域内的 RAI1 基因致病变异引起的神经发育障碍。 SMS 已报道了各种精神和神经系统疾病，其中大多数文献关注儿童和青少年。为了概述成人短信相关主题的当前知识，我们对相关文献进行了全面的范围审查。我们的研究结果表明，许多童年时期常见的表现会持续到成年期。患有 SMS 的成年人的神经精神表现包括智力障碍、自闭症谱系和注意力缺陷多动障碍相关特征、自残和身体攻击行为、睡眠-觉醒障碍和癫痫发作。本综述的结果可能有助于优化成人 SMS 的管理策略，并可能指导未来探索 SMS 中迟发性精神和神经系统合并症的研究。