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黏多糖贮积症Ⅰ型患儿的大运动能力

Gross motor abilities in children with Hurler syndrome.

作者信息

Dusing Stacey C, Thorpe Deborah, Rosenberg Angela, Mercer Vicki, Escolar Maria L

机构信息

Department of Physical Therapy, School of Allied Health Professionals, Virginia Commonwealth University, Richmond, Virginia 23298-0224, USA.

出版信息

Dev Med Child Neurol. 2006 Nov;48(11):927-30. doi: 10.1017/S0012162206002027.

Abstract

Hurler syndrome is the most severe form of mucopolysaccharidosis type I. There is a paucity of literature reporting the gross motor abilities of children with untreated Hurler syndrome. The purpose of this case series is to describe the gross motor abilities of one male and three female children (mean age 11.4mo [SD 3.1]; range 9.5-16mo) diagnosed with Hurler syndrome. The children were assessed using the Peabody Developmental Motor Scales, 2nd edition. Gross motor delays were present in all four children at the time of assessment, and were most evident in locomotor abilities for three of the children. All four children had range of motion limitations at multiple joints. This case series provides evidence for early gross motor delays in this population, as well as evidence for specific gross motor abilities of children with untreated Hurler syndrome. It is recommended that children diagnosed with Hurler syndrome be referred to physical therapy services upon diagnosis and that physical therapists be part of the interdisciplinary team involved in the care of children with Hurler syndrome.

摘要

黏多糖贮积症 I 型中最严重的类型是胡勒综合征。关于未经治疗的胡勒综合征患儿大运动能力的文献报道较少。本病例系列的目的是描述一名男童和三名女童(平均年龄 11.4 个月 [标准差 3.1];范围 9.5 - 16 个月)被诊断为胡勒综合征后的大运动能力。使用第二版皮博迪发育运动量表对这些儿童进行评估。在评估时,所有四名儿童均存在大运动发育迟缓,其中三名儿童的运动能力迟缓最为明显。所有四名儿童在多个关节处都存在活动范围受限的情况。本病例系列为该人群早期大运动发育迟缓提供了证据,同时也为未经治疗的胡勒综合征患儿的特定大运动能力提供了证据。建议对被诊断为胡勒综合征的儿童在确诊后转诊至物理治疗服务机构,并且物理治疗师应成为参与胡勒综合征患儿护理的跨学科团队的一部分。

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