发展性突触病的发育和行为特征特征为临床试验终点提供信息。

IF 2 4区医学 Q1 EDUCATION, SPECIAL

Ajidd-American Journal on Intellectual and Developmental Disabilities Pub Date : 2025-09-01 DOI:10.1352/1944-7558-130.5.414

Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, Edith V Ocampo, Natalie I Berger, Deborah A Pearson, Robyn M Busch, Patricia Klaas, Paige Siper, Kristn Currans, Amanda C Gulsrud, Jennifer M Phillips, Rajna Filip-Dhima, Sarah E O'Kelley, Thomas W Frazier, Tess Levy, Allison L Wainer, Joseph D Buxbaum, Craig M Powell, Jonathan A Bernstein, Simon K Warfield, Darcy A Krueger, E Martina Bebin, Hope Northrup, Shafali S Jeste, Alexander Kolevzon, Elizabeth Berry-Kravis, Mustafa Sahin, Siddharth Srivastava, Audrey Thurm

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引用次数: 0

摘要

发育性突触病联盟是一个多站点的自然历史网络，研究与突触功能障碍和发育迟缓相关的罕见神经遗传综合征。该联盟的目标之一是临床试验准备，包括确定临床概念和验证其测量。我们评估了2-21岁患有phan - mcdermid综合征（PMS, N = 98）、结节性硬化症（TSC, N = 98）和PTEN错瘤肿瘤综合征（PHTS, N = 69）的传统认知和行为测量策略的范围和局限性。平均而言，经前综合症患者的智力残疾（ID）严重程度为重度至重度，TSC患者为轻度至中度，PHTS患者为边缘性（或无智力残疾）。自闭症的严重程度使许多评估的使用无效，包括标准化的自闭症诊断措施。这些结果将为这些和其他类似的医学上复杂的神经发育疾病的试验计划提供信息。

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Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and limitations of conventional cognitive and behavioral measurement strategies in 2-21-year-olds with Phelan-McDermid syndrome (PMS; N = 98), Tuberous Sclerosis Complex (TSC; N = 98), and PTEN Hamartoma Tumor syndrome (PHTS; N = 69). On average, intellectual disability (ID) severity was severe-to-profound in PMS, mild-to-moderate for TSC, and borderline (or absent) in PHTS. Severity of ID invalidated the use of many assessments, including standardized autism diagnostic measures. These results will inform trial planning for these and other similarly medically complex neurodevelopmental conditions.

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来源期刊

Ajidd-American Journal on Intellectual and Developmental Disabilities Multiple-

CiteScore

3.10

自引率

4.80%

发文量

期刊介绍： The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and Developmental Disabilities. It is a scientifi c, scholarly, and archival multidisciplinary journal for reporting original contributions of the highest quality to knowledge of intellectual disabilities, its causes, treatment, and prevention.