Comparing the clinical-functional state in children with cystic fibrosis detected by neonatal screening or by clinical symptoms

Abstract

Newborn Screening for Cystic Fibrosis (CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely. To compare clinical and functional state in children with CF detected by newborn screening or by symptoms. Cross-sectional study. We compared two groups paired by age, sex and genotype. A group detected by newborn screening (Group N) and other by symptoms (Group S), both confirmed with sweat test. We evaluated: age at diagnosis and enter to the center, z score weight/age (z W/A) at first visit and z score for body mass index (BMI) and height/age (z H/A) in last control, score of Shwachman-Brasfield (S/B), forced expiratory volume in one second (FEV1), first isolation of Pseudomonas aeruginosa (Pa) and number of hospitalizations. We included 21 patients in each of the groups from an universe of 250 patients treated in our center. The mean of both groups was 4.4 years. The age at diagnosis was lower in the group N than in the group S (p= 0.002, IC95%:-1.11/- 0.32). z W/A at diagnosis; z IMC; z H/A, score S/B and FEV(1) were better in group N (p< 0.001, 0.3, 0.01, 0.02, 0.1, respectively). The average age of first isolation of Pa and the average of hospitalizations was lower in group N (p= 0.34, IC95%: -1.45/0.51, p= 0.04, IC95%: -3.16/-0.07). Children with CF detected by neonatal screening programs had better clinical and functional outcome.