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    How do gene mutation diversity and disease severity scoring affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever?
    (Elsevier Espana Slu, 2024) Kabul, Elif Gur; Bali, Merve; Calik, Bilge Basakci; Tekin, Zahide Ekici; Yener, Gulcin Otar; Yuksel, Selcuk
    Objectives: The aim of this study is to examine how gene mutation diversity and disease severity affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever (FMF). Methods: Eighty children/adolescents (42 female, 38 male) diagnosed with FMF according to TellHashomer diagnostic criteria were included in this study. Disease severity score (PRAS), running speed and agility and strength subtests of Bruininks-Oseretsky Test of Motor Proficiency Second Edition Short Form (BOT-2 SF), Physical Activity Questionnaire, Pediatric Quality of Life Inventory 3.0 Arthritis Module (PedsQL) was used for evaluation. Participants were divided into 2 groups as M694V and other mutations according to MEFV gene mutation and were divided into 3 groups as mild, moderate and severe according to PRAS. Results: When the data were compared between groups; in terms of gene mutation, a significant difference was observed in treatment subtest of PedsQL-parent form in favor of the M694V gene mutation group (p < 0.05). In terms of PRAS, significant difference was seen in the pain, treatment subtests and total score of the PedsQL-child form, and in the pain, treatment, worry subtests and total score of the PedsQL-parent form in favor of the mild group (p < 0.05). Conclusions: MEFV gene mutations in children and adolescents with FMF did not differ on physical capacity and quality of life. PRAS was not effective on physical parameters, but quality of life decreased as the severity score increased. Encouraging children/adolescents with FMF to participate in physical activity and to support them psychosocially can be important to improve their quality of life. (c) 2024 Elsevier Espana, S.L.U. and Sociedad Espanola de Reumatolog & imath;a y Colegio Mexicano de Reumatolog & imath;a. All rights are reserved, including those for text and data mining, AI training, and similar technologies.