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
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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