Quantitative chest computerized tomography and FEV1 equally identify pulmonary exacerbation risk in children with cystic fibrosis.

BACKGROUND: Chest computerized tomography (CT) scores are associated with the frequency of future pulmonary exacerbations in people with cystic fibrosis (CF). However, cut-off values to identify children with mild lung disease with different risks for frequent future pulmonary exacerbations have not been identified. METHODS: Chest CT scans were assessed using the Brody score for participants of the Pulmozyme Early Intervention Trial (PEIT) and Wisconsin Randomized Clinical Trial of CF Newborn Screening (WI RCT). We determined the area under the receiver operating characteristic (ROC) curve for Brody scores and forced expiratory volume in 1 s (FEV1 ) to compare with the frequency of pulmonary exacerbations up to 10 years later. RESULTS: There were 60 participants in the PEIT with mean (SD) age 10.6 (1.7) years at the time of the CT and 81 participants in the WI RCT with mean age 11.5 (3.0) years. The Brody score cut-off that best identified children at-risk for ≥0.3 annual pulmonary exacerbations was 3.6 in the PEIT and 2.1 in the WI RCT. There were no statistical differences between ROC curves for the Brody CT score and FEV1 % predicted in either study (P ≥ 0.4). CONCLUSIONS: CT score cut-off values that identify children with CF with mild lung disease at different risks for frequent pulmonary exacerbations over an extended follow up period are similar in separate cohorts. Brody scores and FEV1 % predicted have similar abilities to identify these children, suggesting that FEV1 % predicted alone may be adequate for predicting future frequency of pulmonary exacerbations.

Access to Primary Care and Subspecialty Care After Positive Cystic Fibrosis Newborn Screening.

PROBLEM CONSIDERED: Accessibility by telephone to cystic fibrosis (CF) centers for a diagnostic sweat test appointment from a parental perspective­which can be stressful­compared to experience in contacting a general pediatrics practice in the same area. METHODS: We called each CF center and affiliate twice, plus a sample of multiphysician general pediatrics practices selected from yellowpages.com after being matched by area and ZIP codes to 50 randomly selected CF centers, including Wisconsin's 2 nationally accredited centers. After alerts to CF centers nationally, we made follow-up calls to randomly selected centers. A call was considered successful if the center or practice provided the time and date of the next available sweat test or well-baby checkup appointment. RESULTS: In contrast to calls made to general pediatricians' offices, in which 98% were successful and an appointment was available in an average of 8.6 days, only 31% of CF centers and affiliates could be contacted successfully. Although a sweat test appointment was available in 4.9 days on average, delays as long as 26 days were possible. In subsequent follow-up calls, only 40% were successful. CONCLUSIONS: Substantial difficulties and inconsistencies were encountered in accessing CF centers, suggesting that parents often may be challenged in their efforts, while they generally have no difficulty contacting and scheduling an appointment with a general pediatrician. This contrasting experience could be stressful to parents when their baby has a positive screening test. The role of primary care physicians in newborn screening communications is increasingly important, while the role of regional centers needs reconsideration.

Changing incidence of cystic fibrosis in Wisconsin, USA.

RATIONALE: Previous investigations of cystic fibrosis (CF) incidence in Massachusetts, Colorado, and Minnesota (USA) yielded contradictory results, particularly regarding allele p.Phe508del; the racial compositions of the cohorts were not reported. OBJECTIVES: To clarify discrepancies in reported incidence with the ultimate goal of improving screening and quality of care, we assessed CF incidence, stratified by race and mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in Wisconsin (USA) from 1994 to 2011. METHODS: Data on patients diagnosed with CF (N = 283), CFTR genotypes, CF carriers, and birth rate were collected. All data were categorized by racial background of the birth mother and the incidence of CF births was accordingly adjusted. Spearman's nonparametric rank correlation and Fisher's exact test were performed for continuous and categorical variables, respectively. Trends over time were fitted with a cubic spline. RESULTS: We detected a trending increase in CF cases (range within all data 1.67-2.98 per 10,000 births per year), homozygous p.Phe508del cases (0.57-1.79 per 10,000), heterozygous p.Phe508del cases (0.29-1.55 per 10,000), and cases lacking p.Phe508del (0-0.45 per 10,000). Both the number of cases lacking the p.Phe508del mutation per year and the number of cases lacking p.Phe508del per 10,000 births significantly increased (P = 0.05) from 1994 to 2011; the increase in overall incidence was not significant. The number of carriers identified through newborn screening significantly increased within the non-Hispanic Black (P = 0.0.021) and Hispanic (P = 0.003) populations. CONCLUSION: The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome.