Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Pediatr Neurol. 2011 May;44(5):340-6. doi: 10.1016/j.pediatrneurol.2010.12.004.
We evaluated the functional outcome in a cohort of 22 children with mitochondrial diseases. The Pediatric Evaluation of Disability Inventory was administered and scaled scores determined. A large variability in functional skills was seen in all 3 assessed domains: Self-Care (46.4 ± 25.6 S.D.; median 42.4; range 11.8-100), Mobility (47.1 ± 30.4 S.D.; median 46.7; range 6.1-100), and Social Function (49.7 ± 22.3 S.D.; median 45.6; range 21.6-100). There was also a large variability in caregiver assistance, ranging from independent functioning to total dependence on assistance for the following: Self-Care (29.0 ± 33.7 S.D.; median 10.1; range 0-100), Mobility (36.6 ± 38.5 S.D.; median 26.1; range 0-100), and Social Function (42.9 ± 32.4 S.D.; median 44.4; range 0-100). The Pediatric Evaluation of Disability Inventory scores describe in depth different, but strongly related, aspects of everyday functioning in children with mitochondrial diseases. The importance of caregiver assistance in helping these children should not be underestimated. The use of assistive devices was estimated, which were found to be used by few patients.
我们评估了 22 例线粒体疾病患儿的功能结局。采用小儿残疾评估量表进行评估并确定量表评分。在所有 3 个评估领域中，功能技能的变异性都很大：自理能力（46.4 ± 25.6 S.D.；中位数 42.4；范围 11.8-100）、移动能力（47.1 ± 30.4 S.D.；中位数 46.7；范围 6.1-100）和社会功能（49.7 ± 22.3 S.D.；中位数 45.6；范围 21.6-100）。照顾者的协助也存在很大的变异性，从独立功能到完全依赖协助，范围如下：自理能力（29.0 ± 33.7 S.D.；中位数 10.1；范围 0-100）、移动能力（36.6 ± 38.5 S.D.；中位数 26.1；范围 0-100）和社会功能（42.9 ± 32.4 S.D.；中位数 44.4；范围 0-100）。小儿残疾评估量表评分详细描述了线粒体疾病患儿日常生活功能的不同但密切相关的方面。不应低估照顾者协助对这些孩子的重要性。评估了辅助器具的使用情况，发现很少有患者使用。
