In pediatrics, there is often a prevailing view that kids can overcome a lot due to their resiliency. However, just like a a track event, if you trip or fall back in a race, you may never catch up. With many medical conditions, it is unclear whether a delay in diagnosis results in long-term deficits. Recent data have found that a ~1 month delay in the treatment of cystic fibrosis is associated with poorer nutritional/growth outcomes, even 5 years later.
SL Martiniano et al. J Pediatr 2023; 262: 113595. Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis
Using the U.S. Cystic Fibrosis Foundation patient registry (CFFPR), the authors examined children born between 2010-2018 who were diagnosed based on newborn screening (NBS). Age at first event (AFE) serves as a proxy for when CF care was likely initiated. Patients were divided into 3 cohorts based on AFE: <14 days (early cohort), 14 days to <33 days, and 33 days or more (late cohort).
Key findings:
- Infants in the late cohort were more likely to have a sweat test as their first CF event.
- Pulmonary exacerbations were reported as the reason for hospitalization in in 59.1% of late cohort compared with 4.8% of early cohort with hospitalization as their first CF event.
- Height-for-age z-scores were consistently lower in the late cohort. At 1 yr and 5 yrs, median z-scores were -0.6 (vs. -0.42) and -0.26 (vs. -0.12 in early group) respectively
The authors note that the early and late groups had differences in parental education attainment which “may be evidence that the late cohort had lower socioeconomic status that could have resulted in barriers to timely evaluation.”
The discussion notes that the introduction of highly effective modulator therapy does not overcome early stunting; which indicates that even with newer therapy, institution of nutritional treatments remains critical.
The study confirms that
- NBS/early identification has clear benefits.
- There is a need to quickly get suspected patients seen by CF centers.
My take: There was persistently (through at least 5 yrs) reduced height-for-age z-scores in patients with CF who presented just 27 days later.
Related blog posts:
- AAP GI Review Articles: GI Bleeding in the Neonate, Cystic Fibrosis in Neonates, and Intestinal Transplantation in Children
- Inconclusive Screening for Cystic Fibrosis and Outcomes
- Aspen Webinar 2021 Part 7 -Cystic Fibrosis Liver Disease
- CHOA Nutrition Support Lecture: Cystic Fibrosis Nutrition -Changing in the Age of ‘Miracle Drug’
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