Eskişehir City Hospital

healthcare 📍 Eskişehir, Turkey
2
PFAPA Syndrome Publications
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PFAPA Syndrome Researchers

Associated Institutions

Ministry of Health
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Publications

Maternal and paternal perceptions of child vulnerability in children with familial mediterranean fever: a cross-sectional study.

Karaca Ahat T, Taşkın SN
Clinical rheumatology •

Familial Mediterranean fever (FMF) is a chronic autoinflammatory disease that may affect not only children but also parental psychological well-being. This study aimed to evaluate parental perceptions of child vulnerability in children with FMF and to investigate factors associated with maternal and paternal vulnerability scores. This cross-sectional study included 64 children aged 3-17 years with FMF who were followed in a pediatric rheumatology outpatient clinic and their parents. All patients were evaluated during attack-free periods. Parents completed the Child Vulnerability Scale (CVS). Demographic and clinical characteristics, including sex, age group, M694V mutation status, colchicine treatment, family history, and concomitant periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA), were recorded. Paired- and independent-sample t-tests, Pearson's correlation analysis, and categorical analyses were used as appropriate. High maternal vulnerability scores (≥ 10) were present in 54.7% of mothers, while high paternal vulnerability scores were detected in 43.8% of fathers. Mean maternal CVS scores were significantly higher than paternal scores (10.83 ± 5.37 vs. 8.31 ± 4.60, p < 0.001). Maternal and paternal vulnerability scores demonstrated a moderate positive correlation (r = 0.393, p = 0.001). M694V mutation status and family history were not associated with parental vulnerability scores. Concomitant PFAPA was significantly associated with higher paternal vulnerability scores (11.55 ± 5.26 vs 7.64 ± 4.20, p = 0.009), whereas no significant association was found for maternal scores. Parents of children, particularly mothers, frequently perceive their children as vulnerable. The positive correlation between maternal and paternal scores suggests shared psychosocial responses within the family environment. Assessment of parental vulnerability perceptions may contribute to family-centered care in pediatric FMF follow-up. Key Points • Mothers of children with FMF had higher vulnerability perception scores than fathers. • Coexisting PFAPA diagnosis was associated with higher paternal vulnerability scores. • M694V mutation and family history were not associated with parental vulnerability perception. • Psychosocial evaluation of parents may be important in the multidisciplinary follow-up of children with FMF.

Exploring factors for predicting colchicine responsiveness in children with PFAPA.

Özaslan Z, Şen A, Uçar SA, Çakan M, Sanisoğlu B , et al.
European journal of pediatrics •

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) are the most common autoinflammatory syndromes in children. This study aimed to evaluate the clinical and laboratory parameters that may predict colchicine responsiveness.This retrospective, multicenter, cross-sectional study involved nine pediatric rheumatology centers from our country., The patients diagnosed with PFAPA were compared on the basis of their responses to colchicine. In the 806 (42.3% female 57.7% male) patients, the most common clinical findings were fever (100%), exudative tonsillitis (86.5%), pharyngitis (80.9%), and aphthous stomatitis (50.5%). The mean attack frequency was 13.5 ± 6.8 attacks per year lasting for a mean of 3.9 ± 1.1 days. Colchicine treatment was attempted in 519 (64.4%) patients, with 419 (80.7%) showing a favorable response. In patients who underwent MEFV gene analysis (70.8%), the most common variant was M694V heterozygous (16.8%). The presence of pharyngitis (p = 0.03, 95% CI 0.885 to 0.994), the presence of arthralgia (p = 0.04, 95% CI 0.169 to 0.958), and having more frequent attacks (p = 0.001, 95% CI 0.028 to 0.748) were found to be associated with colchicine unresponsiveness, whereas the carriage of the M694V variant (p = 0.001, 95% CI 0.065 to 0.242) was associated with colchicine responsiveness. This study identified the presence of pharyngitis, arthralgia, and increased attack frequency in patients with PFAPA as factors predicting colchicine unresponsiveness, whereas the carriage of the M694V variant emerged as a predictor of colchicine responsiveness. Predicting colchicine response at disease onset may facilitate a more effective management of PFAPA. • Colchicine treatment can be used in the prophylaxis of PFAPA disease. • Having the MEFV variant is the most commonly known factor in predicting response to colchicine. • The presence of pharyngitis or arthralgia, and more frequent attacks in PFAPA disease were found to be independently associated with colchicine unresponsiveness. • Carrying the M694V variant was identified as the sole factor predicting colchicine responsiveness.