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雷特综合征:康复治疗与管理综述

Rett syndrome: habilitation and management reviewed.

作者信息

Budden S S

机构信息

Child Development and Rehabilitation Center, Oregon Health Sciences University, Portland 97207, USA.

出版信息

Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:103-7.

PMID:9452932
Abstract

Experience over the past 10 years in the diagnosis and comprehensive management of females with Rett syndrome has given us a better understanding of the potential skills and abilities which need to be identified. This condition is unique in that after a period of early regression of development there appears to be stabilization with some improvement. The potential for these girls to achieve some functional skills and maintain them presents a challenge, but one that needs to be addressed. Medical management should include stabilization of uncontrolled seizures. Developing a comprehensive plan for feeding disorders is required so that resulting nutritional problems and constipation can be corrected. Recognition of gastroesophageal reflux and its proper management may prevent respiratory complications. Appropriate intervention strategies using different therapeutic techniques are described which have been effective in facilitating communication, maintaining hand function and ambulation, and preventing deformities. Progression of scoliosis can be managed with intensive physical therapy. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, which is best provided by a team in collaboration with community agencies that serve children with special needs and their families.

摘要

过去10年里,我们在瑞特综合征女性患者的诊断和综合管理方面积累的经验,让我们对需要识别的潜在技能和能力有了更深入的了解。这种病症的独特之处在于,在经历一段早期发育倒退期后,病情似乎会趋于稳定并有所改善。这些女孩具备获得并维持某些功能技能的潜力,这带来了挑战,但却是一个需要应对的挑战。医疗管理应包括控制癫痫发作。需要制定针对喂养障碍的综合计划,以便纠正由此导致的营养问题和便秘。认识到胃食管反流及其恰当管理可预防呼吸并发症。文中描述了采用不同治疗技术的适当干预策略,这些策略在促进沟通、维持手部功能和行走能力以及预防畸形方面均有效。脊柱侧弯的进展可通过强化物理治疗来控制。管理涵盖全面的医疗、治疗、教育和心理社会方法,最好由一个团队与为有特殊需求的儿童及其家庭服务的社区机构合作来提供。

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引用本文的文献

1
Assessment and management of nutrition and growth in Rett syndrome.雷特综合征的营养与生长评估和管理。
J Pediatr Gastroenterol Nutr. 2013 Oct;57(4):451-60. doi: 10.1097/MPG.0b013e31829e0b65.
2
Rett syndrome: clinical review and genetic update.雷特综合征:临床综述与遗传学新进展
J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730.
3
Speech and motor disturbances in Rett syndrome.雷特综合征中的言语和运动障碍。
Neurosci Behav Physiol. 2002 Jul-Aug;32(4):323-7. doi: 10.1023/a:1015886123480.