Sema Nur Taşkın, Tuğba Karaca Ahat, Burcu Bozkaya Yücel, Şeyda Doğantan, Gülçin Otar Yener, Ayşenur Paç Kısaarslan
In this cohort of clinically stable, attack-free children with FMF, parent-reported health-related quality of life was lower in children with two pathogenic MEFV exon 10 variants and in girls, whereas child-reported health-related quality of life did not differ according to mutation burden, age, or sex. Maternal anxiety and depressive symptom scores and children's sleep habit scores were also similar across these subgroups. These findings highlight the importance of considering both child and caregiver perspectives when evaluating psychosocial outcomes in pediatric FMF.
BACKGROUND: Familial Mediterranean Fever (FMF) is a chronic pediatric autoinflammatory disease that imposes not only biological challenges but also notable psychosocial stress on families. However, psychosocial outcomes such as quality of life, sleep habits, and maternal psychological well-being have rarely been evaluated comprehensively in relation to clinical and genetic factors. This multicenter study aimed to provide a holistic assessment of psychosocial outcomes-specifically children's quality of life, sleep patterns, and maternal mental health-in pediatric FMF and to examine their potential associations with MEFV exon 10 mutation burden, age, and sex.
METHODS: This cross-sectional study included 155 children aged 5-12 years with FMF and their mothers, recruited from three pediatric rheumatology centers in Türkiye. All assessments were conducted during attack-free periods under regular colchicine treatment. Quality of life was assessed using both the child- and parent-report versions of the Pediatric Quality of Life Inventory (PedsQL). Maternal psychological status was evaluated using the State-Trait Anxiety Inventory (STAI-I/II) and the Beck Depression Inventory (BDI), while children's sleep habits were assessed using the Children's Sleep Habits Questionnaire (CSHQ). Participants were stratified according to MEFV exon 10 mutation burden (single vs. double pathogenic variants), age group, and sex.
RESULTS: Parent-reported PedsQL scores were significantly lower in children carrying homozygous or compound heterozygous MEFV exon 10 mutations than in those with a single exon 10 mutation (54.9 ± 15.5 vs. 61.2 ± 16.2, p = 0.016). Similarly, parent-reported PedsQL scores were lower in girls than in boys (55.2 ± 14.9 vs. 61.0 ± 16.7, p = 0.029). In contrast, child-reported PedsQL scores did not differ according to mutation burden, age group, or sex (all p > 0.05). Maternal STAI-I, STAI-II, and BDI scores and children's CSHQ scores did not differ according to mutation burden, age group, or sex (all p > 0.05). The discrepancy between parent- and child-reported outcomes suggests that psychosocial outcomes may be perceived differently by parents and children.
CONCLUSIONS: In this cohort of clinically stable, attack-free children with FMF, parent-reported health-related quality of life was lower in children with two pathogenic MEFV exon 10 variants and in girls, whereas child-reported health-related quality of life did not differ according to mutation burden, age, or sex. Maternal anxiety and depressive symptom scores and children's sleep habit scores were also similar across these subgroups. These findings highlight the importance of considering both child and caregiver perspectives when evaluating psychosocial outcomes in pediatric FMF.