Functional independence of Taiwanese patients with mucopolysaccharidoses
Autor: | Shuan-Pei Lin, Yann Jang Chen, Pao Chin Chiu, Chia-Ying Chang, Huei Ching Chiu, Ju Li Lin, Tung Ming Chang, You Hsin Huang, Chih-Kuang Chuang, Hsiang-Yu Lin, Dau Ming Niu, Ru Yi Tu, Mei Chyn Chao, Fuu Jen Tsai, Yu Chia Kao, Wuh-Liang Hwu, Chung Lin Lee |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
0301 basic medicine
Background information Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent lcsh:QH426-470 Mucopolysaccharidosis Functional skills Taiwan 030105 genetics & heredity Motor Activity 03 medical and health sciences Disability Evaluation Young Adult Child Development Cognition Surveys and Questionnaires Genetics medicine WeeFIM Humans Enzyme Replacement Therapy Child skin and connective tissue diseases Molecular Biology Genetics (clinical) independent living Type iiib business.industry nutritional and metabolic diseases mucopolysaccharidosis Enzyme replacement therapy Original Articles Mucopolysaccharidoses medicine.disease Functional Independence Measure Self Care lcsh:Genetics 030104 developmental biology Child Preschool Physical therapy Functional independence Female Original Article business |
Zdroj: | Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019) Molecular Genetics & Genomic Medicine |
ISSN: | 2324-9269 |
Popis: | Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for Children (WeeFIM) questionnaire to assess the functional skills of 63 Taiwanese MPS patients (median age, 13 years 3 months; range, 3–20 years) from January 2012 to December 2018. Results Mean total WeeFIM score was 75.4 of a potential score of 126. Mean total WeeFIM scores of each type (MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI) were 103.8, 76.2, 41.6, 92.2, and 113.6, respectively. Mean scores for self‐care, mobility, and cognition domains were 30 (maximum 56), 23 (maximum 35), and 22 (maximum 35), respectively. MPS type IIIB patients had the lowest scores in self‐care, mobility, cognition, and total domains compared to other types of MPS. All patients with ERT in MPS I, II, and IVA had higher scores in self‐care and mobility domains than patients without ERT. Most patients required assistance for self‐care skills, especially in grooming and bathing. Conclusion MPS patients require support and supervision in self‐care tasks. For cognition tasks, MPS IIIB patients also require help. This questionnaire is useful to identify the strengths and limitations of MPS patients. |
Databáze: | OpenAIRE |
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