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认识肌张力障碍的共同起源与人类运动的发展:孤立性儿童肌张力障碍未满足需求宣言

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias.

作者信息

Lin Jean-Pierre, Nardocci Nardo

机构信息

Guy's and St Thomas' NHS Foundation Trust , London , UK.

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta , Milano , Italy.

出版信息

Front Neurol. 2016 Dec 19;7:226. doi: 10.3389/fneur.2016.00226. eCollection 2016.

Abstract

Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP by Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible are desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate. A developmental neurobiological perspective could also be useful in exploring new clinical strategies for adult-onset dystonia disorders focusing on environmental and molecular interactions and systems behaviors.

摘要

儿童肌张力障碍可能会导致严重的功能障碍,而且常常持续存在且未被认识到。儿童肌张力障碍被认为是一种罕见疾病,但在许多情况下都很普遍,包括发育迟缓、脑瘫(CP)、自闭症、神经代谢、神经炎症和神经遗传疾病。总体而言,有必要认识到早期姿势和运动的作用,这些姿势和运动是正常胎儿、婴儿和儿童发育阶段的特征,以此作为幼儿神经疾病中肌张力障碍诸多方面的背景,并了解肌张力障碍症状的发育背景。在整个婴儿期、儿童期、青年期和老年期都探讨了共同收缩的作用。本文回顾了对儿童广泛性肌张力障碍(包括脑瘫患者中的此类障碍)认识不足的情况。回顾了高尔斯对脑瘫的原始描述,并使用当代生理学证据来说明支持将紧张性迷路反射解释为肌张力障碍的一种表现。在可能的情况下,尽早识别和进行儿童肌张力障碍的分子诊断,对于适当的临床分层以及未来合适情况下的精准医学和功能神经外科手术是很有必要的。发育神经生物学的观点对于探索成人期肌张力障碍疾病的新临床策略也可能有用,这些策略侧重于环境与分子相互作用以及系统行为。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/936f/5165260/7438e0733a66/fneur-07-00226-g001.jpg

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