儿童的神经学诊断可能满足发育协调障碍的标准。

IF 4.3 2区 医学 Q1 CLINICAL NEUROLOGY
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引用次数: 0

摘要

发育性协调障碍(DCD)是一种以运动发育迟缓和非进行性协调障碍为特征的神经发育疾病。DCD可在满足以下四个诊断标准的儿童中诊断:(1)运动技能习得或表现迟缓;(2)运动障碍对日常生活活动的干扰;(3)发育早期发病;(4)没有可解释症状的潜在替代性神经系统疾病(AltND)。在临床上,根据可观察到的症状(即表型)区分DCD和AltND可能具有挑战性,因为许多AltND的表型可能符合DCD的前三个标准。因此,患有AltND的儿童最初可能被误诊为DCD(即假阳性诊断),直到额外的诊断检查揭示了表型的潜在原因。在我们的队列中,50例患者表型上符合DCD的前三个标准,我们研究了神经表型评估是否可以预测最终诊断(DCD, n = 31/50; AltND, n = 19/50)。诊断DCD(52%)和诊断AltND(21%)的预测值都很低,假阳性率约为79%。58%最终诊断为AltND的患者(n = 11/19)暴露了遗传病因。此外,在诊断为DCD的儿童和诊断为AltND的儿童之间的51个临床和诊断特征的统计比较没有显示任何区分参数。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental coordination disorder (DCD) is a neurodevelopmental condition characterized by delayed motor development and non-progressive coordination impairments. DCD can be diagnosed in children fulfilling four diagnostic criteria: (1) delayed acquisition or performance of motor skills for age; (2) interference of motor impairments with daily life activities; (3) onset in the early developmental period; (4) absence of an underlying alternative neurological disorder (AltND) explanatory for the symptoms.

Clinically, the distinction between DCD and AltND based on the observable symptoms (i.e. the phenotype) can be challenging, as many AltNDs present with a phenotype that may fulfill the first three criteria for DCD. Consequently, children with an AltND may initially be mistakenly diagnosed with DCD (i.e. false positive diagnosis) until additional diagnostic examinations reveal an underlying cause for the phenotype.

In our cohort of 50 patients phenotypically fulfilling the first three criteria for DCD, we investigated whether neurological phenotypic assessment could predict the final diagnosis (DCD, n = 31/50; AltND, n = 19/50). Predictive values were low for both the diagnosis of DCD (52%) as well as for the diagnosis of AltND (21%), with a false positive rate of approximately 79%. A genetic etiology was exposed in 58% of patients ultimately diagnosed with an AltND (n = 11/19). Moreover, statistical comparison of 51 clinical and diagnostic features between children diagnosed with DCD and those with AltND did not reveal any distinguishing parameters.

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来源期刊
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.
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