Functional independence of Taiwanese patients with mucopolysaccharidoses

Chung Lin Lee, Hsiang Yu Lin, Chih Kuang Chuang, Huei Ching Chiu, Ru Yi Tu, You Hsin Huang, Wuh Liang Hwu, Fuu Jen Tsai, Pao Chin Chiu, Dau Ming Niu, Yann Jang Chen, Mei Chyn Chao, Tung Ming Chang, Ju Li Lin, Chia Ying Chang, Yu Chia Kao, Shuan Pei Lin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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.

Original languageEnglish
Article numbere790
JournalMolecular genetics & genomic medicine
Volume7
Issue number8
DOIs
StatePublished - Aug 2019

Keywords

  • Taiwan
  • WeeFIM
  • independent living
  • mucopolysaccharidosis

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