Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders

IF 4.3 2区医学 Q1 CLINICAL NEUROLOGY Developmental Medicine and Child Neurology Pub Date : 2025-02-09 DOI:10.1111/dmcn.16264

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Abstract

This study looked at the adaptive behaviour profiles of children and young adults with different neurodevelopmental disorders (e.g. autism, intellectual disability), with known genetic causes. Adaptive behaviours are the practical skills that an individual needs to function independently in everyday life (e.g. interacting with other people, shopping, personal grooming, etc.). Understanding these behaviours within individual neurodevelopmental disorders, as well as comparing these behaviours across different disorders can help us to identify and develop suitable interventions for these conditions.

The study included 243 children and young adults aged 1 to 25 years with one of eight genetic neurodevelopmental disorders (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents completed the standardized interview of the Vineland Adaptive Behavior Scales, Third Edition, a common measure of adaptive behaviour that assesses communication, daily living, socialization, and motor skills.

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儿童和青少年单基因神经发育障碍的适应性功能。

这项研究着眼于患有已知遗传原因的不同神经发育障碍（如自闭症、智力残疾）的儿童和年轻人的适应性行为概况。适应性行为是个体在日常生活中独立运作所需的实用技能（例如与他人互动、购物、个人打扮等）。了解个体神经发育障碍中的这些行为，以及比较不同障碍中的这些行为，可以帮助我们确定并制定针对这些疾病的适当干预措施。该研究纳入了243名患有8种遗传性神经发育障碍（CDK13、DYRK1A、FOXP2、KAT6A、KANSL1、SETBP1、BRPF1和DDX3X）之一的1至25岁儿童和年轻人。家长完成了Vineland适应行为量表（第三版）的标准化访谈，这是一种评估沟通、日常生活、社交和运动技能的适应行为的通用测量方法。

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来源期刊

Developmental Medicine and Child Neurology 医学-临床神经学

CiteScore

7.80

自引率

13.20%

发文量

338

审稿时长

3-6 weeks

期刊介绍： Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.