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Vol. 20. Issue 7.
Pages 360-365 (August - September 2024)
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Vol. 20. Issue 7.
Pages 360-365 (August - September 2024)
Original article
How do gene mutation diversity and disease severity scoring affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever?
¿Cómo afectan la puntuación de la diversidad de mutaciones genéticas y la gravedad de la enfermedad a la capacidad física y la calidad de vida en niños y adolescentes con fiebre mediterránea familiar?
Elif Gur Kabula,
Corresponding author
elifgur1988@hotmail.com

Corresponding author.
, Merve Balib, Bilge Basakci Calikb, Zahide Ekici Tekinc, Gulcin Otar Yenerc, Selcuk Yukseld
a Faculty of Health Sciences, Physiotherapy and Rehabilitation, Usak University, Usak, Turkey
b Faculty of Physiotherapy and Rehabilitation, Pamukkale University, Denizli, Turkey
c Department of Pediatric Rheumatology, Faculty of Medicine, Pamukkale University, Denizli, Turkey
d Department of Pediatric Rheumatology, School of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey
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Tables (5)
Table 1. Demographic and clinical data of participants.
Table 2. Distribution of participants by gene mutation.
Table 3. Descriptive data of evaluation parameters.
Table 4. Comparison of data by PRAS groups.
Table 5. Comparison of data between M694V and other mutations.
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Abstract
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 Tell-Hashomer 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.

Keywords:
Familial Mediterranean Fever
Physical activity
Mutation
Quality of life
Child
Resumen
Objetivos

El objetivo de este estudio es examinar cómo la diversidad de mutaciones genéticas y la gravedad de la enfermedad afectan la capacidad física y la calidad de vida en niños/adolescentes con fiebre mediterránea familiar (FMF).

Métodos

Se incluyeron en este estudio 80 niños/adolescentes (42 niñas y 36 niños) diagnosticados con FMF según los criterios diagnósticos de Tell-Hashomer. 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) se utilizó para la evaluación. Los participantes se dividieron en 2 grupos como M694V y otras mutaciones según la mutación del gen MEFV y se dividieron en 3 grupos como leve, moderado y grave según PRAS.

Resultados

Cuando se compararon los datos entre grupos; en términos de mutación genética, se observó una diferencia significativa en la subprueba de tratamiento de la forma parental PedsQL a favor del grupo de mutación genética M694V (p<0,05). En términos de PRAS, se observaron diferencias significativas en las subpruebas de dolor, tratamiento y puntuación total del formulario PedsQL-niño, y en las subpruebas de dolor, tratamiento, preocupación y puntuación total del formulario PedsQL-padre a favor del grupo leve (p<0,05).

Conclusiones

Las mutaciones del gen MEFV en niños y adolescentes con FMF no difirieron en la capacidad física y la calidad de vida. PRAS no fue eficaz en los parámetros físicos, pero la calidad de vida disminuyó a medida que aumentó la puntuación de gravedad. Animar a los niños/adolescentes con FMF a participar en actividades físicas y apoyarlos psicosocialmente puede ser importante para mejorar su calidad de vida.

Palabras clave:
Fiebre mediterránea familiar
Actividad física
Mutación
Calidad de vida
Niño

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