Rett syndrome is the second most common cause of intellectual disability in females worldwide. The severity of many individuals’ impairment limits the effectiveness of traditional assessment. However, clinician and parent reports of adaptive functioning may provide insight into these patients’ abilities. This review aims to synthesize the current literature assessing adaptive functioning in Rett syndrome and evaluate existing measurement tools in this population. A search was conducted on PubMed using the search term “Rett syndrome.” Studies that quantitatively assessed adaptive functioning outcomes in Rett syndrome with published and normed questionnaire measures were included. Twenty-three studies met inclusion criteria. Overall results indicate that the population of people with Rett syndrome is highly impaired, both in overall adaptive functioning as well as in specific subdomains (e.g., mobility, activities of daily living). Atypical Rett syndrome groups performed better on measures of adaptive functioning relative to patients with classic Rett syndrome. Our findings identified measurement weaknesses, as many of the studies found floor effects and therefore were unable to capture meaningful variability in outcomes. Individuals with Rett syndrome are highly reliant on caregivers due to disrupted adaptive functioning abilities. Optimizing measurement of adaptive skills in Rett syndrome will facilitate the quantification of meaningful change in skills and the identification of efficacious interventions aimed at improving outcomes and quality of life.

中文翻译：

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护理人员和临床医生报告的Rett综合征适应性功能：系统评估方法和评估策略。

瑞特综合症是全世界女性智障的第二大最普遍原因。许多人的损伤严重程度限制了传统评估的有效性。但是，临床医生和家长关于适应性功能的报告可能会提供对这些患者能力的洞察力。这篇综述的目的是综合评估Rett综合征的适应性功能的现有文献，并评估该人群中现有的测量工具。使用搜索词“ Rett综合征”对PubMed进行了搜索。包括采用公开和规范的问卷调查方法定量评估Rett综合征适应功能结果的研究。23项研究符合纳入标准。总体结果表明，患有雷特综合症的人群严重受损，无论是在总体适应功能还是在特定的子域（例如，流动性，日常生活活动）。与典型的Rett综合征患者相比，非典型Rett综合征组在适应功能测量方面表现更好。我们的发现发现了测量的弱点，因为许多研究发现了底线影响，因此无法捕捉到有意义的结果变异性。瑞特综合症患者的适应功能受到破坏，因此高度依赖看护者。优化Rett综合征适应技能的测量将有助于量化有意义的技能变化并确定旨在改善预后和生活质量的有效干预措施。与典型的Rett综合征患者相比，非典型Rett综合征组在适应功能测量方面表现更好。我们的发现发现了测量的弱点，因为许多研究发现了底线影响，因此无法捕捉到有意义的结果变异性。瑞特综合症患者由于适应功能障碍而高度依赖看护者。优化Rett综合征适应技能的测量将有助于量化有意义的技能变化并确定旨在改善预后和生活质量的有效干预措施。与典型的Rett综合征患者相比，非典型Rett综合征组在适应功能测量方面表现更好。我们的发现确定了测量的弱点，因为许多研究发现了底线影响，因此无法捕捉到有意义的结果变异性。瑞特综合症患者的适应功能受到破坏，因此高度依赖看护者。优化Rett综合征适应技能的测量将有助于量化有意义的技能变化并确定旨在改善预后和生活质量的有效干预措施。由于许多研究发现了地板效应，因此无法捕捉到有意义的结果变异性。瑞特综合症患者由于适应功能障碍而高度依赖看护者。优化Rett综合征适应技能的测量将有助于量化有意义的技能变化并确定旨在改善预后和生活质量的有效干预措施。由于许多研究发现了地板效应，因此无法捕捉到有意义的结果变异性。瑞特综合症患者由于适应功能障碍而高度依赖看护者。优化Rett综合征适应技能的测量将有助于量化有意义的技能变化并确定旨在改善预后和生活质量的有效干预措施。