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亨特综合征行为表现的管理。

Management of the behavioural manifestations of Hunter syndrome.

作者信息

Roberts Jane, Stewart Catherine, Kearney Shauna

机构信息

Clinical Nurse Specialist, Manchester Children's Hospital.

Clinical Nurse Specialist, Birmingham Children's Hospital.

出版信息

Br J Nurs. 2016;25(1):22, 24, 26-30. doi: 10.12968/bjon.2016.25.1.22.

Abstract

This article reviews the behavioural manifestations of, and the strategies for managing, Hunter syndrome (mucopolysaccharidosis (MPS) type II), a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulphatase. Hunter syndrome is generally considered to have two manifestations: an attenuated form and a severe form; in the latter, the person has pronounced cognitive decline. Infants with either phenotype usually appear normal at birth, but may show some somatic signs. Children with the severe phenotype show developmental delay and changes in behaviour patterns at about 18 months to 4 years of age. To varying degrees, patients with the severe form manifest behavioural disorders such as hyperactivity, aggression, impulsivity, anxiety and sleep disturbances. Medications, such as antipsychotics, benzodiazepines and anticonvulsants, have been tried with varying degrees of success. Behavioural management strategies may be a worthwhile approach, although published data are lacking. For sleep disturbances, behavioural modification plus melatonin or benzodiazepine may be effective treatments.

摘要

本文综述了亨特综合征(II型黏多糖贮积症,MPS II)的行为表现及管理策略。亨特综合征是一种罕见的X连锁溶酶体贮积症,由艾杜糖醛酸-2-硫酸酯酶缺乏引起。亨特综合征通常被认为有两种表现形式:轻度型和重度型;在重度型中,患者会出现明显的认知衰退。两种表型的婴儿出生时通常看起来正常,但可能会出现一些躯体体征。重度表型的儿童在18个月至4岁左右会出现发育迟缓及行为模式改变。重度患者在不同程度上表现出行为障碍,如多动、攻击、冲动、焦虑和睡眠障碍。已经尝试使用抗精神病药、苯二氮䓬类药物和抗惊厥药等药物,取得了不同程度的成功。行为管理策略可能是一种值得采用的方法,尽管缺乏相关的公开数据。对于睡眠障碍,行为矫正加褪黑素或苯二氮䓬类药物可能是有效的治疗方法。

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