Cigdem Korkmaz

Childhood interstitial lung diseases (chILD) include a diverse range of rare disorders, complex clinical progressions, and high rates of morbidity and mortality. This study aims to assess the clinical and psychosocial impacts of chILD in children registered in the National chILD-Turkiye database. Data from 17 centers were analyzed as of January 2024. Patients aged 1 month to 18 years were included in the study. Through face-to-face interviews, patients and their families completed the Pediatric Quality of Life Inventory (PedsQL™ 4.0 Generic Core Scales) and PedsQL™ 2.0 Family Impact Module. Higher scores suggest better performance and higher health-related quality of life (HRQoL). Patient clinic data, demographic information, pulmonary function tests, Fan scores, and household income were recorded. Patients were categorized into two groups according to their use of O ₂ therapy and diffuse progressive lung disease (DPLD) groups A and B. The study included 175 patients (90 girls), with a median age of 7.7 (1.0–17.8) years. A strong positive correlation was found between the FEV1% value and both the Physical Health Summary Score and the Total Score ( p = 0.007, r = 0.608; p = 0.008, r = 0.607). The Fan score negatively correlated with PedsQL™ scores ( p < 0.001). Patients who use O ₂ have an earlier diagnosis of age of chILD, lower FEV1%, higher Fan scores, and lower Child Self-Reports and Parent Reports scores ( p < 0.05). The group with DPLD-A disorders has an earlier diagnosis age, lower weight and BMI z-scores, higher Fan score, and higher Family Impact Module score ( p < 0.05). Conclusion : Lung function and Fan score strongly correlate with HRQoL, emphasizing the impact of disease severity on physical and psychosocial well-being. These findings highlight the need for multidisciplinary care and psychosocial support to enhance the QoL in children with chILD and their families. What is Known: • Childhood interstitial lung diseases (chILD) are rare and diverse disorders associated with significant morbidity and complex management. • Evidence regarding health-related quality of life (HRQoL) and the psychosocial burden on affected families remains limited. What is New: • This multicenter national registry–based study provides the first comprehensive evaluation of HRQoL and family impact in children with chILD in Türkiye. • Lung function impairment and higher Fan severity scores were strongly linked to poorerHRQoL, highlighting the influence of disease severity on physical and psychosocial well-being.

Cystic fibrosis (CF) is a genetic disorder associated with multiorgan dysfunction. It has been included in the newborn screening program in Turkey since 2015. Our aim is to re-evaluate patients with IRT (immunoreactive trypsinogen) positivity, to identify cases missed through our screening process, and to obtain information about the positive predictive value and sensitivity of the IRT screening program. We identified 208 infants referred to our center between 2015 and 2023 due to IRT positivity. Infants were categorized into four groups based on guidelines: CF, CRMS (Cystic Fibrosis Related Metabolic Syndrome), carrier, and false-positive newborn screening test. Clinical data, IRT and SCT values, and genetic analysis were reviewed. 29.3% were diagnosed with CF, 5.7% had CRMS, and 15.3% were carriers. 7 CF patients were identified through genetic analysis despite normal SCT values. Significant differences were found between the CF group and other groups concerning mean IRT values. At the threshold value of 100.1 ng/mL for IRT-1, the sensitivity was 83% and the specificity was 37%. Meanwhile, for the threshold value of 97.2 ng/mL for IRT-2, sensitivity was 89% and specificity was 19%. The positive predictive value with these thresholds was determined to be 60%. SCT is insufficient as a stand-alone test for the CF diagnosis. A comprehensive diagnostic protocol, including SCT and genetic analysis, is needed. Our findings underscore the importance of genetic testing. The high false-positivity of our screening strategy suggests that the IRT thresholds in use are low. This study advocates for a reassessment of these threshold values to improve the screening system’s precision.