Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study.

Abstract

Objective: The aim of this study was to compare the nutritional status of individuals with cystic fibrosis (CF) diagnosed either through newborn screening (NBS) or based on clinical findings (early vs. late), at the time of diagnosis and 1 year later.

Methods: This was an observational study including CF patients followed at a Referral Center from 2005 to 2023. Participants were classified into three subgroups according to the method and age at diagnosis: 1 (NBS); 2 (early signs and symptoms if the CF diagnosis was before 2 years of age); and 3 (late signs and symptoms if the CF diagnosis was after 2 years of age). Nutritional parameters were compared at diagnosis and 1 year after treatment.

Results: A total of 63 individuals were included, 57.1% male, 81.0% non-white, and median (interquartile range) age at diagnosis of 6 (2-42) months. There were 21, 23, and 19 in subgroups 1, 2, and 3, respectively. At diagnosis, 26 (41.3%) individuals had short stature (SST) or very SST, corresponding to 57.1, 43.5, and 21.1% of children in subgroups 1, 2, and 3, respectively. After 1 year, these proportions decreased to 28.5 and 30.4% in subgroups 1 and 2, while remaining unchanged in subgroup 3. Pancreatic insufficiency was present in 85.7, 69.6, and 68.4% of participants in subgroups 1, 2, and 3, respectively.

Conclusions: Short stature was frequent at diagnosis, even among children identified by NBS. After 1 year of follow-up, height improved in subgroups 1 and 2 but remained unchanged in subgroup 3. Early diagnosis and timely nutritional interventions are essential to prevent and correct growth deficits in individuals with CF.