对于患有朱伯特综合征和相关疾病的儿童的康复方法
Hiroshi Mano1, Kenichi Kitamura1, Mayumi Tachibana1
1Department of Rehabilitation Medicine, Shizuoka Children's Hospital, Shizuoka, JPN.
Cureus
|June 8, 2023
概括
朱伯特综合征和相关疾病 (JSRD) 需要量身定制的康复. 早期干预身体,职业和语音疗法,以及对低血压症的整形矯正,可以改善受影响儿童的功能和参与.
科学领域:
- 神经学 神经学
- 儿科 儿科 儿科
- 康复医学 康复医学 康复医学
背景情况:
- 朱伯特综合征和相关疾病 (JSRD) 是一种影响神经发育的罕见遗传疾病.
- 关键特征包括精神运动延迟,低血压,缺氧和异常的呼吸/眼动,具有特征性的MRI发现.
- 关于JSRD.有效的康复策略的证据有限.
研究的目的:
- 探索JSRD儿童多学科康复的作用和影响.
- 记录用于管理JSRD症状的治疗类型和干预措施.
- 评估康复治疗对JSRD的功能改善的潜在好处.
主要方法:
- 一系列案件涉及三名被诊断患有JSRD的儿童.
- 跨学科治疗包括身体,职业和语音语言听力 (SLH) 治疗.
- 包括形干预 (脚/脚脚形) 治疗低血压和动力不良.
- 呼吸器物理治疗和增强和替代沟通 (AAC) 对于那些有气管切除的人来说.
主要成果:
- 所有患者都接受了量身定制的物理,职业和SLH疗法.
- 在所有情况下都考虑了整形干预,其中两名患者使用骨架.
- 气管切除术的儿童从专门的呼吸和SLH疗法中受益,包括AAC.
- 对于低血压症的整形干预似乎对毛细运动发育有好处.
结论:
- 虽然没有特定的JSRD康复方案,但治疗组合至关重要.
- 应该考虑物理,职业和SLH疗法,以及整形,以增强功能.
- 整形干预显示了改善JSRD儿童的运动发育和参与的前景.
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