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台湾普拉德-威利综合征患儿的功能独立性

Functional independence of Taiwanese children with Prader-Willi syndrome.

作者信息

Lee Chung-Lin, Lin Hsiang-Yu, Tsai Li-Ping, Chiu Huei-Ching, Tu Ru-Yi, Huang You-Hsin, Chien Yin-Hsiu, Lee Ni-Chung, Niu Dau-Ming, Chao Mei-Chyn, Tsai Fuu-Jen, Chou Yen-Yin, Chuang Chih-Kuang, Lin Shuan-Pei

机构信息

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

出版信息

Am J Med Genet A. 2018 Jun;176(6):1309-1314. doi: 10.1002/ajmg.a.38705. Epub 2018 Apr 25.

Abstract

Prader-Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126). Sixty-five patients (80%) had deletion type PWS, 16 (20.0%) had nondeletion type. The scores were 103.6 ± 18.5 for deletion and 104.8 ± 18.3 for nondeletion type (p = .405), 104.8 ± 19.3 in boys and 102.6 ± 17.3 in girls (p = .293). The mean self-care, mobility, and cognition scores were 47 (maximum 56), 33 (maximum 35), and 24 (maximum 35), respectively. All total scores and 18 subscores in the three functional domains were positively correlated with age (p < .05). Most children required assistance in problem-solving, comprehension, and expression. The WeeFIM identified the strengths and limitations of children with PWS and confirmed that support and supervision were needed in cognitive and self-care tasks.

摘要

普拉德-威利综合征(PWS)是一种遗传性疾病,伴有肥胖、发育迟缓、身材矮小和行为异常。该研究旨在评估PWS患儿的功能独立性。采用儿童功能独立性测量量表(WeeFIM)对81例PWS患儿(44例男孩和37例女孩)进行评估,这些患儿于2013年1月至2016年12月招募,中位年龄为11岁1个月(范围为2岁8个月至20岁2个月)。WeeFIM总评分的平均值为103.8(满分126)。65例患者(80%)为缺失型PWS,16例(20.0%)为非缺失型。缺失型的评分为103.6±18.5,非缺失型为104.8±18.3(p = 0.405),男孩为104.8±19.3,女孩为102.6±17.3(p = 0.293)。自我护理、移动和认知评分的平均值分别为47(满分56)、33(满分35)和24(满分35)。三个功能领域的所有总分和18个分项评分均与年龄呈正相关(p < 0.05)。大多数儿童在解决问题、理解和表达方面需要帮助。WeeFIM确定了PWS患儿的优势和局限性,并证实了在认知和自我护理任务中需要支持和监督。

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