WS11.8 Early diagnosis through newborn screening (NBS) improved long-term growth and adult height at age 18 years in CF patients with pancreatic insufficiency

Abstract

Objectives To determine if early growth benefit of NBS sustains to adulthood, we compared adolescent peak height velocity (PHV) between screened (diagnosed early via NBS) and control (identified by symptoms) groups in the Wisconsin RCT. Methods Data from 106 patients born in 1985–94 and followed through 2012 with the same care protocol were analyzed. Results Pancreatic sufficient patients (n = 18) achieved normal pubertal PHV and adult height at age 18 y ( th %tile). Meconium ileus patients (MI, n=25) had reduced PHV and shorter adult height at age 18 y (males: 34 th %tile; females: 17 th %tile). In non-MI patients who had pancreatic insufficiency (n = 64), boys in the screened group (n = 22) had normal and slightly higher PHV (9.5 cm/y at 13.5 y) than the control group (n = 29, 8.9 cm/y at 13.6 y), girls in the screened group (n = 13) had later and slightly lower PHV (7.3 cm/y at 12.5 y) compared to control group (n = 11, 7.9 cm/y at 11.7 y), but the lower PHV in screened girls coincided with later menarche (13.6 y vs. 12.2 y) and was compensated by longer duration of pre-pubertal growth. Thus, adult heights at age 18 y in both sexes were taller in screened compared to control (50 th vs. 29 th %tile, p=0.025), which remained significant after adjusting for parental height (32 nd vs 15 th %tile, p=0.003). Multiple regression analysis revealed that the taller adult height in the screened group was primarily due to achievement of better pre-pubertal height (e.g., 47 th vs. 27 th percentile at age 7 y) rather than greater adolescent PHV. Conclusion This longest duration cohort study shows that early diagnosis/care can promote better long term growth and is a sustained benefit of NBS.