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发育性协调障碍的表型变异性:广泛性关节过度活动与注意力缺陷/多动障碍、非典型吞咽及叙述困难的聚类分析。

Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties.

作者信息

Celletti Claudia, Mari Giorgia, Ghibellini Giulia, Celli Mauro, Castori Marco, Camerota Filippo

出版信息

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):117-22. doi: 10.1002/ajmg.c.31427.

Abstract

Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS-HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM. All patients were screened for Beighton score and a set of neuropsychological tests for motor competences (Movement Assessment Battery for Children and Visual-Motor Integration tests), and language and learning difficulties (Linguistic Comprehension Test, Peabody Picture Vocabulary Test, Boston Naming Test, Bus Story Test, and Memoria-Training tests). All patients were also screening for selected JHS/EDS-HT-associated features and swallowing problems. Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%). This study confirms the non-causal association between DCD and gJHM, which, in turn, seems to increase the risk for non-random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system.

摘要

发育性协调障碍(DCD)是一种公认的儿童疾病,主要特征为运动协调困难。关节过度活动综合征,又称埃勒斯-当洛综合征、过度活动型(JHS/EDS-HT),是一种遗传性结缔组织疾病,主要表现为全身关节过度活动(gJHM)、肌肉骨骼疼痛和轻微的皮肤特征。尽管这两种疾病看似明显无关,但最近的证据表明,gJHM或JHS/EDS-HT患儿中运动和协调方面的问题发生率很高。在此,我们调查了41名意大利DCD患儿中gJHM的患病率,以检查与gJHM存在与否相关的DCD是否存在可识别的表型亚组。所有患者均接受了贝顿评分以及一组针对运动能力(儿童运动评估量表和视动整合测试)、语言和学习困难(语言理解测试、皮博迪图片词汇测试、波士顿命名测试、巴士故事测试和记忆训练测试)的神经心理学测试。所有患者还接受了选定的JHS/EDS-HT相关特征和吞咽问题的筛查。19名(46%)儿童表现出gJHM,22名(54%)未表现出。患有DCD和gJHM的儿童频繁跌倒(95%对18%)、容易瘀伤(74%对0%)、运动持续性差(89%对23%)、书写时手部疼痛(53%对9%)注意力缺陷/多动障碍(89%对36%)、便秘(53%对0%)、关节痛/肌痛(58%对4%)、叙事困难(74%对32%)和非典型吞咽(74%对18%)的比例明显更高。这项研究证实了DCD与gJHM之间不存在因果关系,而这反过来似乎又增加了出现非随机附加特征的风险。患有DCD和gJHM的患者在语言、学习和吞咽困难方面比例更高,这表明松弛组织对神经系统发育有更广泛的影响。

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