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DOI 10.1002/ajmga.70022

Медицинская библиотека · American journal of medical genetics. Part A · 2025

Functional Independence in Adults With Prader-Willi Syndrome: First Report Using the FIM Instrument.

Oto Yuji, Ogata Hiroyuki, Nakane Erina, Saima Sohei, Inoue Takeshi, Murakami Nobuyuki, Nagai Toshiro, Koyama Satomi, Takatani Tomozumi, Ihara Hiroshi

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A significant positive correlation between age and functional independence has been reported in pediatric patients with Prader-Willi Syndrome (PWS) using the Functional Independence Measure (FIM) for Children (WeeFIM). However, no previous study has evaluated the use of the FIM in adults with PWS. This study aimed to assess functional independence in adults with PWS using the FIM and to explore the effects of age and genetic subtype on functional outcomes. We conducted a retrospective, single-center study of 54 genetically confirmed patients with PWS of Japanese descent. No significant correlations were observed between age and FIM scores. Similarly, no significant differences were found between age groups or genetic subtypes in total, motor, or cognitive FIM domains. Radar chart analysis illustrated slightly lower FIM scores in older adults, although these differences were not statistically significant. These findings highlight the importance of individualized support plans tailored to age and specific functional needs. Early intervention in childhood, followed by continued support into adulthood, may be crucial for maintaining independence and enhancing quality of life in individuals with PWS.

Для цитирования: Oto Yuji, Ogata Hiroyuki, Nakane Erina, Saima Sohei, Inoue Takeshi, Murakami Nobuyuki, Nagai Toshiro, Koyama Satomi, Takatani Tomozumi, Ihara Hiroshi. Functional Independence in Adults With Prader-Willi Syndrome: First Report Using the FIM Instrument.. American journal of medical genetics. Part A. 2025. DOI: 10.1002/ajmga.70022.

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