Comparison of clinical, microbiologic and psychological status of their parents of cystic fibrosis patients diagnosed and not diagnosed by newborn screening

Objective: Cystic fibrosis (CF) is an inherited disease that has a negative impact on life expectancy and quality. Newborn screening tests are among the preventive health services that have a serious importance in the context of public health programs all over the world. Our aim in this study; It was planned to compare the clinical, microbiological and psychological status of their parents in screening positive and screening negative CF patients followed in our clinic. Materials and Methods: In our study, 71 patients diagnosed with CF, born in 2015 and later, who started the newborn screening program with follow-up from Bezmialem Vakıf University Faculty of Medicine, Pediatric Chest Diseases Polyclinic, were evaluated retrospectively. The cases were divided into 2 groups as NBS positive CF (group I) and NBS negative CF (group II). The age of the children, how long they were diagnosed, the history of hospitalization and drug use, the age of the mother, the educational status of the mother, the number of children in the family, and whether they received economic and social support were recorded in the data collection form. A questionnaire form was applied to the mothers of the patients, who were primary caregivers, using the PHQ-9 (Patient Health Questionnaire) scale and the GAD-7 (Generalized Anxiety Disorder Questionnaire; Generalized Anxiety Disorder) scale. Statistical analyzes were performed using the IBM SPSS Statikse 27.0 package program. Clinical outcome measures were compared between CF patients with positive and negative NBS and their parents. Results: The entire study population included 71 subjects, 51 in the NBS positive group and 20 in the NBS negative group. The median age at diagnosis was higher in the NBS negative group (p<0.001), the median age of the patients with NBS positive was 4(2-6) years, and the median age of the patients with PT negative was 5(3-5) years. While asymptomatic status was higher in the NBS positive group at the time of admission, the NBS negative group had significant growth retardation, diarrhea and respiratory symptoms at the time of admission (p=0.004) (p<0.001) (p=0.029) (p=0.002). There was no statistically significant difference between the groups in terms of weight z score (p = 0.843) and height z score (p = 0.712) at current follow-ups. The median values ​​of IRT-1, IRT-2 and quantitative sweat test were found to be significantly higher in the NBS positive group. Genotyping was performed in all patients and mutations were identified in 93% of patients. The most common mutation was deltaF508 with an allelic frequency of 20%, followed by 2183AA->G with a rate of 7%. There was no statistically significant difference between the parents' groups in anxiety scores according to the GAD-7 scale and depression scores according to the PHQ9 scale (p=0.142) (p=0.247). None of the demographic characteristics were associated with depression or anxiety. Patients were further divided into symptomatic and asymptomatic. A statistically significant difference was found between the symptomatic and asymptomatic groups of the two scales administered to the parents (p<0.001). Conclusioņ: CF patients are diagnosed early with NBS programs in children,, their treatment can be started early, and the quality of life and clinical improvement of life of the patients are significantly improved. In this process, it is important to have a multidisciplinary approach to children defined as chronic diseases and to support their parents psychologically if necessary. Keywords: Cystic Fibrosis, Newborn screening program, anxiety, depression