与遗传性神经发育障碍有关的运动表型。

IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Annals of Clinical and Translational Neurology Pub Date : 2024-11-02 DOI:10.1002/acn3.52231
Alexandra Santana Almansa, LeeAnne Green Snyder, Wendy K Chung, Jennifer M Bain, Siddharth Srivastava
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引用次数: 0

摘要

目的:越来越多的单基因疾病与神经发育障碍(NDD)有关,包括自闭症谱系障碍和智力障碍。这些疾病中经常出现运动障碍,但并没有明确的定义。我们旨在描述遗传性 NDDs 的运动表型特征:我们分析了西蒙斯探照灯的数据,收集了遗传性 NDDs 患者的信息。分析的数据包括维尼兰适应行为量表第二版(Vineland-II)运动标准分、运动里程碑和音调异常:结果:共纳入了 959 名患有 57 种遗传疾病的患者。与维尼兰-II 运动标准分数相关的疾病 解释:遗传性 NDD 患者的运动障碍范围广泛,需要进一步鉴定。
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Motor phenotypes associated with genetic neurodevelopmental disorders.

Objective: There is a growing number of monogenic disorders implicated in neurodevelopmental disorders (NDDs), including autism spectrum disorder and intellectual disability. Motor impairment is frequently seen in these disorders, although not clearly defined. We aimed to characterize the motor phenotype of genetic NDDs.

Methods: We analyzed data from Simons Searchlight, collecting information on patients with genetic NDDs. Data analyzed included Vineland Adaptive Behavior Scales Second Edition (Vineland-II) motor standard scores, motor milestones and tone abnormalities.

Results: In total, 959 patients with 57 genetic disorders were included. Disorders associated with Vineland-II motor standard score <56 included GRIN2B-related disorder (mean standard score = 53.5), HNRNPH2-related disorder (mean standard score = 55.8) and SCN2A-related disorder (mean standard score = 49.9). The only genetic condition with a mean age of sitting unsupported ≥18 months was GRIN1-related disorder (mean age = 26.3 months). Genetic conditions with a mean age of walking independently ≥36 months included CTNNB1-related disorder (mean age = 37.4 months) and HNRNPH2-related disorder (mean age = 41.9 months). Tone abnormalities included hypotonia in 83% (577/696), hypertonia in 16% (112/696), a diagnosis of cerebral palsy (CP) in 10% (73/696) and a diagnosis specifically of spastic CP in 3% (23/696).

Interpretation: Patients with genetic NDDs have a spectrum of motor impairment, which warrant further characterization.

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来源期刊
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)
CiteScore
9.10
自引率
1.90%
发文量
218
审稿时长
8 weeks
期刊介绍: Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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