典型Rett综合征的症状发作:初始临床严重程度量表条目分析。

Alan K. Percy, Jeffrey L. Neul, Amitha Ananth, Timothy A. Benke, Eric D. Marsh
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引用次数: 0

摘要

目的:使用临床严重程度量表(CSS)评估Rett综合征(RTT)在美国国立卫生研究院(nih)赞助的自然历史(NH)研究中注册时的临床特征。CSS于2000年建立,用于评估RTT及相关疾病患者的特征。我们分析了所有经典RTT患者入组时的CSS。方法:采用1258个个体的CSS,对初始入组时的3个历史项目(回归年龄、手部刻板印象发生年龄和头部生长)和10个临床特征进行检验。结果:在历史项目中,年龄在12个月后回归最突出,在此之前回归8%,手刻板印象在18个月后最常见,在此之前发生30%,头部生长总体上明显较低。大多数患者的手部使用、行走和沟通能力都有所下降。讨论和结论:这些发现反映了经典RTT的核心临床标准,反映了父母或照顾者独立登记的最关心的问题。CSS是将临床结果的相对差异与特定MECP2变异组相关联的重要分析工具,在建立RTT临床试验的进入标准方面也很重要。年龄特异性CSS特征的范围将继续为RTT NH提供信息,并在未来的临床试验中提供分层和选择,特别是那些涉及年轻参与者的临床试验。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries

Objective

We aim to assess the clinical features of Rett syndrome (RTT) at registration into the National Institutes of Health–sponsored natural history study (NHS) using the Clinical Severity Scale (CSS).

Introduction

The CSS was established in 2000 to assess characteristics of individuals with RTT and related disorders. We analyzed the CSS at enrollment into the NHS of all individuals with classic RTT.

Methods

The CSS of 1258 individuals was used to examine three historical items (age at regression, age at onset of hand stereotypies, and head growth) and 10 clinical features at initial enrollment.

Results

Among historical items, age at regression was most prominent after age 12 months with 8% regressing before this, hand stereotypies were most common after 18 months with 30% occurring before, and head growth was substantially lower overall. Hand use, ambulation, and communication skills were reduced in most individuals.

Discussion and Conclusion

These findings reflect core clinical criteria for classic RTT and mirror the top concerns registered independently by parents or caregivers. The CSS is an important analytic tool for the association of relative differences in clinical outcome with specific MECP2 variant groups and has been important in establishing entrance criteria in RTT clinical trials. The range of age-specific CSS features will continue to inform the RTT natural natural history as well as provide stratification and selection in future clinical trials, especially those involving younger participants.

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