Haley Stephen M, Fragala Maria A, Skrinar Alison M
Department of Rehabilitation Sciences, Center for Rehabilitation Effectiveness, Sargent College of Health and Rehabilitation Sciences, Boston University, Boston, Massachusetts 02215-1605, USA.
Dev Med Child Neurol. 2003 Sep;45(9):618-23. doi: 10.1017/s0012162203001129.
This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease-specific functional instrument. Data were collected by telephone interview with parents using a modified version of the Pediatric Evaluation of Disability Inventory. The sample included mostly males of Caucasian origin, recruited from several countries. Disability profiles in mobility and self-care skills were heterogeneous because functional status was not related to chronological age. Most children had severe functional deficits: nearly two-thirds of the sample was non-ambulatory and could not perform age-expected self-care skills. Three-quarters of the children used a ventilator. Two children were able to participate in age-appropriate sports and peer activities. Although the mean chronological age of the sample was 7 years 7 months, the mean age-performance for self-care skills was under 2 years 6 months and under 1 year 6 months for mobility. Implications of physical disability findings for individuals with Pompe disease are discussed.
本研究使用一种针对该疾病的功能评估工具，描述了30名庞贝病儿童及青少年（23名男性，7名女性；平均年龄7岁7个月，标准差5岁6个月；年龄范围6个月至22岁1个月）的身体残疾情况。通过电话访谈家长，使用改良版的儿童残疾评估量表收集数据。样本主要包括来自多个国家的白种男性。由于功能状态与实际年龄无关，运动和自我护理技能方面的残疾状况存在差异。大多数儿童存在严重的功能缺陷：近三分之二的样本无法行走，不能完成符合年龄预期的自我护理技能。四分之三的儿童使用呼吸机。两名儿童能够参加适合其年龄的体育和同伴活动。尽管样本的平均实际年龄为7岁7个月，但自我护理技能的平均年龄表现低于2岁6个月，运动方面低于1岁6个月。文中讨论了身体残疾研究结果对庞贝病患者的影响。
