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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.儿童交替性偏瘫:来自美国儿童交替性偏瘫协作研究注册库187例受试者的回顾性遗传学研究及基因型-表型相关性分析
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Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.儿童交替性偏瘫的临床与遗传学分析:来自南欧的10例新患者
J Neurol Sci. 2014 Sep 15;344(1-2):37-42. doi: 10.1016/j.jns.2014.06.014. Epub 2014 Jun 17.
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ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.ATP1A3 突变与中国儿童发作性偏瘫的基因型-表型相关性。
PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.
5
Alternating hemiplegia of childhood: new diagnostic options.儿童交替性偏瘫:新的诊断选择。
Neurol Neurochir Pol. 2014;48(2):130-5. doi: 10.1016/j.pjnns.2013.05.003. Epub 2014 Feb 15.
6
Distinct neurological disorders with ATP1A3 mutations.ATP1A3 突变相关的不同神经障碍。
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
7
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.丹麦儿童交替性偏瘫:临床表现和 ATP1A3 突变状态。
Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep 25.
8
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.伴 Na+,K+-ATPase α3 错义突变的儿童期相关神经和行为表型交替偏瘫的小鼠模型。
PLoS One. 2013;8(3):e60141. doi: 10.1371/journal.pone.0060141. Epub 2013 Mar 20.
9
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.通过外显子组测序鉴定 ATP1A3 突变是日本患儿交替性偏瘫的病因。
PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.
10
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.杂合新生突变在伴有转换性偏瘫的儿童患者中的 ATP1A3 中:全外显子组测序基因鉴定研究。
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儿童交替性偏瘫的粗大运动功能障碍。

Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.

机构信息

Department of Rehabilitation, Józef Piłsudski University of Physical Education, Warsaw, Poland.

Center of Functional Rehabilitation Orthos, Warsaw, Poland.

出版信息

J Mother Child. 2020 Jul 29;24(1):24-32. doi: 10.34763/jmotherandchild.2020241.1935.000003.

DOI:10.34763/jmotherandchild.2020241.1935.000003
PMID:33074178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8518102/
Abstract

BACKGROUND

Alternating hemiplegia of Childhood (AHC) is a rare disease manifested by transient episodes of hemiplegia and other neurological disorders. Delayed motor development has been reported in patients with AHC, but detailed features of the motor impairment have not been described so far.

AIM

The aim of the study was to evaluate gross motor function between attacks in a group of Polish patients with AHC.

MATERIALS AND METHODS

The interictal gross motor function was assessed using the Gross Motor Function AHC scale, which consisted of 41 motor tasks. The study group consisted of 10 patients with AHC older than 2 years of age. The control group consisted of 30 age- and gender-matched subjects. The results achieved in each of the 41 tasks by the study subjects were compared to the results obtained with controls using the non-parametric Mann-Whitney U-test. In tasks 38-41, mean times were compared between the study subjects and controls.

RESULTS

The study revealed gross motor function impairment in patients with AHC. The greatest differences compared to controls concerned such skills as standing on toes, walking on toes, walking on heels, as well as running and hopping on one leg and on alternate legs. Significant impairment of the motor function of the upper limbs was also found.

CONCLUSIONS

The study confirmed motor function impairment between attacks in patients with AHC. The study findings may indicate the need to introduce individualised physiotherapy management of patients with AHC.

摘要

背景

儿童交替性偏瘫(AHC)是一种罕见的疾病,表现为短暂的偏瘫和其他神经障碍发作。AHC 患者的运动发育迟缓已有报道,但迄今尚未描述运动障碍的详细特征。

目的

本研究旨在评估一组波兰 AHC 患者发作间期的粗大运动功能。

材料和方法

使用 AHC 粗大运动功能量表评估发作间期的粗大运动功能,该量表由 41 项运动任务组成。研究组由 10 名年龄大于 2 岁的 AHC 患者组成。对照组由 30 名年龄和性别匹配的受试者组成。使用非参数 Mann-Whitney U 检验比较研究对象在 41 项任务中的每项任务的结果与对照组的结果。在任务 38-41 中,比较研究对象和对照组的平均时间。

结果

研究显示 AHC 患者的粗大运动功能受损。与对照组相比,最大的差异涉及到脚趾站立、脚趾行走、脚跟行走、单腿和交替腿跑步和跳跃等技能。上肢运动功能也明显受损。

结论

本研究证实了 AHC 患者发作间期的运动功能障碍。研究结果可能表明需要为 AHC 患者制定个体化的物理治疗管理。