Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.

IF 4 2区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurodevelopmental Disorders Pub Date : 2025-07-31 DOI:10.1186/s11689-025-09633-5

Nadia Y van Silfhout, Maud M van Muilekom, Clara D van Karnebeek, Joost G Daams, Lotte Haverman, Agnies M van Eeghen

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引用次数: 0

Abstract

Background: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID.

Methods: To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed.

Results: In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms.

Conclusion: This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research.

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患者报告的结果用于临床试验和核心结果集的个体遗传智力残疾：范围审查。

背景：遗传性智力残疾（GID）对日常生活的影响是显著的。为了更好地了解GID的影响，有必要衡量相关的患者报告结果（PROs）。本研究的目的是概述用于GID患者的PRO，为将来的GID通用核心PRO集奠定基础。方法：将两篇文献综述的结果进行整合，以确定用于GID患者的pro；(1)从临床试验结果的范围综述中提取的PROs；(2)通过在MEDLINE （Ovid）、PsycINFO、Embase和COMET数据库中搜索，从特定gid的核心结果集（cos）的范围综述中确定的PROs。进行描述性分析。结果：在第一次范围审查中，确定了66种不同的PROs。在第二次范围审查中，确定了22个不同的PROs。整合后，还剩下18个独特的pro，并将其分类为一个概念框架。最常报告的优点是生活质量、感知健康、认知功能、焦虑/压力和抑郁症状。结论：本研究提供了用于GID患者的pro的概述。这些结果将有助于为GID开发通用核心PRO集，以协调护理和研究中使用的PRO。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurodevelopmental Disorders 医学-临床神经学

CiteScore

7.60

自引率

4.10%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.