Parents Report Lower Quality of Life in Children With Two FMF Gene Mutations

Children with familial Mediterranean fever who carry two pathogenic variants in the MEFV exon 10 region were rated by their parents as having a lower health-related quality of life than children carrying only one such variant, according to a multicenter cross-sectional study published in BMC Psychology. In the cohort of 155 children aged 5 to 12 years recruited from three pediatric rheumatology centers in Türkiye, parent-reported scores on the Pediatric Quality of Life Inventory averaged 54.9 plus or minus 15.5 in children with homozygous or compound heterozygous exon 10 mutations, compared with 61.2 plus or minus 16.2 in children with a single exon 10 mutation, a difference that reached statistical significance at p = 0.016.

The same parent-reported measure also revealed a sex difference. Parents rated the quality of life of girls with FMF lower than that of boys, with mean scores of 55.2 plus or minus 14.9 for girls versus 61.0 plus or minus 16.7 for boys, significant at p = 0.029. Intriguingly, the children’s own reports told a different story: child-reported quality of life scores did not differ according to mutation burden, age group, or sex, with all comparisons yielding p values above 0.05. The researchers interpret this parent-child discrepancy as evidence that psychosocial outcomes in pediatric FMF may be perceived differently by caregivers and by the children themselves.

Familial Mediterranean fever is a chronic pediatric autoinflammatory disease that imposes not only biological challenges but also notable psychosocial stress on families. Yet the study’s authors note that 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, which motivated the holistic design of this investigation.

All 155 children and their mothers were assessed during attack-free periods while receiving regular colchicine treatment, meaning the cohort was clinically stable at the time of testing. Quality of life was captured with both the child-report and parent-report versions of the Pediatric Quality of Life Inventory. Maternal psychological status was evaluated using the State-Trait Anxiety Inventory, which distinguishes state anxiety from trait anxiety, and the Beck Depression Inventory. Children’s sleep habits were assessed with the Children’s Sleep Habits Questionnaire.

Participants were stratified according to MEFV exon 10 mutation burden, separating children with a single pathogenic variant from those with homozygous or compound heterozygous double variants, as well as by age group and sex. This stratification allowed the team to test whether heavier mutation burden corresponded to heavier psychosocial load.

When the researchers turned to the mothers’ mental health, the genetic and demographic contrasts disappeared. Maternal state anxiety, trait anxiety, and depressive symptom scores on the STAI-I, STAI-II, and Beck Depression Inventory did not differ according to children’s mutation burden, age group, or sex, with all p values above 0.05. Children’s sleep habit scores on the Children’s Sleep Habits Questionnaire were likewise similar across these subgroups. In this clinically stable, attack-free cohort, neither the number of pathogenic exon 10 variants nor the child’s age or sex left a detectable imprint on maternal anxiety, depressive symptoms, or children’s reported sleep patterns.

The study’s conclusions therefore draw a careful line between what was observed and what was not. 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. The authors emphasize that these findings highlight the importance of considering both child and caregiver perspectives when evaluating psychosocial outcomes in pediatric FMF, since the two vantage points evidently do not converge.

Several features of the design deserve emphasis when weighing the results. As a cross-sectional study, it captured associations at a single point in time and cannot establish causal relationships between genotype, sex, and perceived quality of life. The cohort consisted of clinically stable children during attack-free periods under regular treatment, so the findings speak to psychosocial load in a well-controlled population rather than during acute inflammatory episodes. The age range of 5 to 12 years also means the results may not generalize to adolescents or to very young children with FMF.

The study, published as an open-access article in BMC Psychology with an early-release version shared ahead of the final Version of Record, adds pediatric FMF to the list of chronic childhood conditions in which caregiver and child perspectives must be measured separately. The divergence between parent and child reports suggests that psychosocial evaluation in this population may benefit from including both informants, since parents perceived a greater day-to-day burden for children with two pathogenic exon 10 variants and for girls even when the children’s own reports and sleep scores showed no such differences.

Subject of Research: Psychosocial burden, quality of life, sleep, and maternal mental health in pediatric familial Mediterranean fever

Article Title: Psychosocial burden in pediatric familial mediterranean fever: A study of quality of life, sleep habits, maternal mental health, and clinical correlates

Article References: Taşkın, S. N., Karaca Ahat, T., Bozkaya Yücel, B., Doğantan, Ş., Otar Yener, G., & Paç Kısaarslan, A. (2026). Psychosocial burden in pediatric familial mediterranean fever: A study of quality of life, sleep habits, maternal mental health, and clinical correlates. BMC Psychology, 14(1), Article 1371. https://doi.org/10.1186/s40359-026-05501-6

Image Credits: AI Generated

DOI: 10.1186/s40359-026-05501-6

Keywords: familial Mediterranean fever, pediatric rheumatology, MEFV exon 10 mutations, health-related quality of life, PedsQL, maternal anxiety, Beck Depression Inventory, children's sleep habits, autoinflammatory disease, cross-sectional study, parent-child discrepancy, Psychosocial