Improved growth may be tied to newborn screening, better care

Danish children born between 2000-22 showed gains in first 5 years of life

Andrea Lobo, PhD avatar

by Andrea Lobo, PhD |

Share this article:

Share article via email
A doctor stands next to children playing with plush toys.

Danish children with cystic fibrosis (CF) born between 2000 and 2022 showed noticeable gains in growth during their first five years of life, with those born after 2016 seeing the most progress in reaching normal growth standards, a study shows.

This is likely due to newborn screening programs (NBS) that allow earlier diagnosis and treatment, general improved care, and CFTR modulator therapies being introduced, said the researchers in “Improved early growth in Danish children with cystic fibrosis from 2000-2022,” which was published in the Journal of Cystic Fibrosis. “The results of this study can be used to review the possible impact of improved care for CF … including basic care management, nutrition care, infection control, and medical advances — as well as the impact of policy advances, such as NBS,” they wrote.

CF is caused by mutations in the CFTR gene that lead to abnormally thick and sticky mucus accumulating, particularly in the lungs and digestive tract, leading to a range of disease symptoms that include digestive problems that influence nutritional intake and affect maintaining a healthy weight.

For this reason, children with CF face challenges with growth, including low weight, height, and body mass index (BMI), which is a measure of body fat based on weight and height that’s adjusted for age and gender, compared with healthy growth reference values. Plus, poor pulmonary function, insufficient pancreatic function, and a high susceptibility to infectious diseases may help prevent children with CF from achieving normal growth.

Recommended Reading
An illustration of an infant napping.

Swiss newborn screening spots CF in 96% of cases across 11 years

Newborn screening, advances in disease treatment

Implementing newborn screening programs that allow a CF diagnosis shortly after birth, as well as advances in disease treatment, have led to significant growth improvements in infants and children under age 6.

To better understand how advancements in diagnosis and care have affected the growth of Danish children with CF between their diagnosis and age, the researchers conducted an observational study of 255 children from the Danish CF Registry, born between 2000 and 2022, who were divided into four groups based on their birth year. Most were female (51.8%) and had two copies of the F508del mutation (69.8%). Most also had pancreatic insufficiency (78.8%), and some (16.9%) had a blockage in their small intestine after birth due to excessively thick meconium, which is a baby’s first stool.

The mean age at diagnosis was above age 1 for those born between 2000 and 2015 and fell to 0.1 years in those born between 2016 and 2022. Most children in the later group were diagnosed through newborn screening programs (76.4%) and were treated with Orkambi (ivacaftor/ lumacaftor; 66.3%) starting at a mean age of 2.2.

Compared with the children born between 2000 and 2004, a smaller percentage of children born between 2016 and 2022 had underweight conditions and growth impairments. On the other hand, the proportion of children who were overweight, had low body mass or high body mass was higher in the 2016-2022 group.

All the birth groups had initial low weight and BMI compared with healthy reference levels, but improved with time, reaching or approaching growth reference levels. Children born after 2016 showed slightly higher trends, reaching reference levels by age 1.

Children born between 2010 and 2015 reached reference level weight between ages 1 and 2, while those born before 2010 remained just below growth reference weight levels until they were 5.

Those children diagnosed through NBS showed better catch-up growth in weight and BMI compared with those who weren’t diagnosed through NBS.

The NBS group reached normal growth reference values by age 1. But those who weren’t diagnosed through NBS had lower, but gradually increasing mean weight and BMI, which remained slightly below normal values for weight and just reached normal values for BMI by age 5. Both groups showed similar height improvements over time, with children born between 2016 and 2022 showing slightly higher trends.

“This study shows clear growth improvements in Danish children with CF from diagnosis up to 5 years of age born between 2000-January 2022. The 2016-2022 birth cohort shows the greatest improvements in catch-up growth … earlier in age than other birth groups,” the researchers wrote.

BMI below reference values remains an issue, however. The researchers said careful nutrition and care management must “remain a priority in managing early growth in children with CF, specifically increased individualization of care.”