Motor performance in children with Noonan syndrome

Croonen Ellen A.; Essink Marlou; van der Burgt Ineke; Draaisma Jos M.; Noordam Cees; Nijhuis‐van der Sanden Maria W. G.

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Motor performance in children with Noonan syndrome

机译：Noonan综合征儿童的电机性能

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Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen using valid norm‐referenced tests. The study assessed motor performance in 19 children with Noonan syndrome (12 females, mean age 9 years 4 months, range 6 years 1 month to 11 years and 11 months, SDS 1 year and 11 months). More than 60% of the parents of the children reported pain, decreased muscle strength, reduced endurance, and/or clumsiness in daily functioning. The mean standard scores on the Visual Motor Integration (VMI) test and Movement Assessment Battery for Children 2, Dutch version (MABC‐2‐NL) items differed significantly from the reference scores. Grip strength, muscle force, and 6?min Walking Test (6?MWT) walking distance were significantly lower, and the presence of generalized hypermobility was significantly higher. All MABC‐2‐NL scores (except manual dexterity) correlated significantly with almost all muscle strength tests, VMI total score, and VMI visual perception score. The 6?MWT was only significantly correlated to grip strength. This is the first study that confirms that motor performance, strength, and endurance are significantly impaired in children with Noonan syndrome. Decreased functional motor performance seems to be related to decreased visual perception and reduced muscle strength. Research on causal relationships and the effectiveness of interventions is needed. Physical and/or occupational therapy guidance should be considered to enhance participation in daily life.

机译：尽管日常生活中的电动机性能存在问题，但在中午综合征中经常提及，但从未系统地研究了电机性能型材。本研究的目的是使用有效的规范测试检测检查在非数南综合征儿童运动中的特定型材是否在儿童中进行。该研究评估了Noonan综合征19名儿童的运动性能（12名女性，平均9岁4个月，6年为1个月至11年，11个月，SDS 1年和11个月）。超过60％的儿童父母报告疼痛，降低肌肉力量，降低耐力和/或笨蛋在日常运作中。用于儿童的视觉电机集成（VMI）测试和运动评估电池的平均标准评分2，荷兰语（MABC-2-NL）项目与参考分数显着不同。握力强度，肌肉力和6？分钟步行试验（6？MWT）步行距离显着降低，普遍性高能力的存在显着高。所有MABC-2-NL分数（手动灵活性除外）显着相关，几乎所有肌肉力量测试，VMI总分和VMI视觉感知得分。 6？MWT仅与握力显着相关。这是第一次证实电机性能，强度和耐久性的研究在中非南综合征的儿童中显着受损。功能性电机性能下降似乎与视觉感知和降低的肌肉力量降低有关。需要研究因果关系和干预措施的有效性。应考虑身体和/或职业治疗指导，以提高日常生活的参与。

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《American journal of medical genetics, Part A》 |2017年第9期|共11页
作者
Croonen Ellen A.; Essink Marlou; van der Burgt Ineke; Draaisma Jos M.; Noordam Cees; Nijhuis‐van der Sanden Maria W. G.;
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作者单位

Department of PediatricsRadboud University Medical CenterNijmegen The Netherlands;

Department of RehabilitationRadboud University Medical CenterNijmegen The Netherlands;

Department of Human GeneticsRadboud University Medical CenterNijmegen The Netherlands;

Department of PediatricsRadboud University Medical CenterNijmegen The Netherlands;

Department of PediatricsRadboud University Medical CenterNijmegen The Netherlands;

Department of RehabilitationRadboud University Medical CenterNijmegen The Netherlands;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
endurance; grip strength; handwriting; hypermobility; motor performance; muscle force; Noonan syndrome; pain; visual perception;

机译：耐力;握力;手写;高能量;电机性能;肌肉力;中午综合征;疼痛;视觉感知;

Motor performance in children with Noonan syndrome

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