Growth Monitoring to Detect Children with Cystic Fibrosis

Abstract

Background/Aims: Cystic fibrosis (CF) in infancy and childhood is often associated with failure to thrive (FTT). This would suggest that in countries without a newborn screening program for CF, FTT could be used as a clinical screening tool. The aim of this study is to assess the diagnostic performance of FTT for identifying children with CF. Methods: Longitudinal length and weight measurements up to 2.5 years of age were used from CF patients (n = 123) and a reference group (n = 2,151) in The Netherlands. Growth measurements after diagnosis were excluded. We developed five potential screening rules based upon length, weight and body mass index (BMI) standardized by age and gender (SDS). Outcome measures were sensitivity, specificity and positive predictive value (PPV). Results: BMI SDS had the highest sensitivity at low false-positive rates. An efficient scenario is a BMI SDS below –2.5 SD in combination with a decrease in BMI SDS of at least 0.5 SD. This scenario had a sensitivity of 32%, a specificity of 98.3% and a PPV of 0.75%. Conclusion: In the absence of a newborn screening program, young children with FTT for BMI are candidates to consider testing for CF.

Clinical presentation of cystic fibrosis at the time of diagnosis: a multicenter study in a region without newborn screening

“…The results from this study showed that the most common manifestation at first admission was FTT, which is also considered as the earliest feature of CF in infants diagnosed by neonatal screening (17). This would suggest that in countries without a newborn screening program, FTT could be used as a clinical screening tool (17).…”

“…In regions without newborn screening, clinical screening tools for identification of potential patients to consider for SCT would be very useful (17).…”

“…This would suggest that in countries without a newborn screening program, FTT could be used as a clinical screening tool (17).…”

Should Blood Gas Analysis Be Part of the Diagnostic Workup of Short Children? Auxological Data and Blood Gas Analysis in Children with Renal Tubular Acidosis

“…The number of children who complied with the decision rule that proved most effective for celiac disease and cystic fibrosis (combining BMI SDS of ! -2 and change in BMI of 1 0.5/year) [2,3] was 7/9.…”

“…We have also tested this guideline for its effectiveness in detecting celiac disease and cystic fibrosis, which showed that the change in body mass index is a better marker to detect both conditions, although the sensitivity is still low (approximately 30%) [2,3] .…”