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婴儿期深度表型分析的构建模块:普拉德-威利综合征和脑性瘫痪中自发神经运动功能比较的一个案例

Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy.

作者信息

Marschik-Zhang Dajie, Wang Jun, Shen Xiushu, Zhu Xiaoyun, Gao Herong, Yang Hong, Marschik Peter B

机构信息

Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, 37075 Göttingen, Germany.

Leibniz Science Campus Primate Cognition, 37077 Göttingen, Germany.

出版信息

J Clin Med. 2023 Jan 18;12(3):784. doi: 10.3390/jcm12030784.

DOI:10.3390/jcm12030784
PMID:36769434
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9917638/
Abstract

With the increasing worldwide application of the Prechtl general movements assessment (GMA) beyond its original field of the early prediction of cerebral palsy (CP), substantial knowledge has been gained on early neuromotor repertoires across a broad spectrum of diagnostic groups. Here, we aimed to profile the neuromotor functions of infants with Prader-Willi syndrome (PWS) and to compare them with two other matched groups. One group included infants with CP; the other included patients who were treated at the same clinic and turned out to have inconspicuous developmental outcomes (IOs). The detailed GMA, i.e., the motor optimality score-revised (MOS-R), was used to prospectively assess the infants' ( = 54) movements. We underwent cross-condition comparisons to characterise both within-group similarities and variations and between-group distinctions and overlaps in infants' neuromotor functions. Although infants in both the PWS and the CP groups scored similarly low on MOS-R, their motor patterns were different. Frog-leg and mantis-hand postures were frequently seen in the PWS group. However, a PWS-specific general movements pattern was not observed. We highlight that pursuing in-depth knowledge within and beyond the motor domain in different groups has the potential to better understand different conditions, improve accurate diagnosis and individualised therapy, and contribute to deep phenotyping for precision medicine.

摘要

随着普雷茨尔全身运动评估(GMA)在全球范围内的应用不断增加,其应用范围已超出了最初用于早期预测脑瘫(CP)的领域,我们在广泛的诊断组中获得了关于早期神经运动技能的大量知识。在此,我们旨在描述普拉德-威利综合征(PWS)婴儿的神经运动功能,并将其与另外两个匹配组进行比较。一组包括脑瘫婴儿;另一组包括在同一诊所接受治疗且发育结果不明显(IO)的患者。采用详细的GMA,即运动最优性评分修订版(MOS-R),对54名婴儿的运动进行前瞻性评估。我们进行了跨条件比较,以描述婴儿神经运动功能在组内的相似性和变异性以及组间的差异和重叠。尽管PWS组和CP组的婴儿在MOS-R上得分同样低,但他们的运动模式不同。在PWS组中经常出现蛙腿和螳螂手姿势。然而,未观察到PWS特异性的全身运动模式。我们强调,深入了解不同组在运动领域内外的知识,有可能更好地理解不同疾病,改善准确诊断和个体化治疗,并有助于精准医学的深度表型分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fe3/9917638/618f98f8e41e/jcm-12-00784-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fe3/9917638/618f98f8e41e/jcm-12-00784-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fe3/9917638/618f98f8e41e/jcm-12-00784-g001.jpg

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本文引用的文献

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Open video data sharing in developmental science and clinical practice.发育科学与临床实践中的开放视频数据共享。
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