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Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy

Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy
Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy

OBJECTIVE. Newborn screening for cystic fibrosis remains controversial because improved pulmonary function has not been established. Studies to date have not accounted for differences in treatments delivered to clinically diagnosed children and newborn-screened controls. Here, we compare outcomes and treatment of patients clinically diagnosed within the newborn-screening reporting window (early-clinically diagnosed), those presenting after this period (late-clinically diagnosed), and patients diagnosed by newborn screening. PATIENTS AND METHODS. In a cross-sectional analysis of cohorts retrospectively ascertained, patients who were homozygous ΔF508 with cystic fibrosis, attending specialist cystic fibrosis centers, and 1 to 10 years of age between 2000 and 2002 were identified from the United Kingdom Cystic Fibrosis Database and stratified into newborn-screened, early-clinically diagnosed, or late-clinically diagnosed cohorts. Two analyses were performed: (1) after restricting to the most recent year of data collection, early-clinically diagnosed and late-clinically diagnosed cohorts were matched to newborn-screened patients by patient age and year of data collection (133 patients per cohort were identified); and (2) for all years of data collection, annual sets of data for early-clinically diagnosed and late-clinically diagnosed patients were matched to newborn-screened patients by patient age and year of data collection (291 data sets per cohort were identified). Median height and weight z scores, proportion of patients with height and weight <10th percentile, prevalence of chronic Pseudomonas aeruginosa infection, Shwachman-Kulczyki morbidity scores, percent predicted forced expiratory volume in 1 second, and numbers of long-term therapies were compared. RESULTS. In both analyses, newborn screening was associated with higher height z score, higher Shwachman-Kulczyki score, lower likelihood of height <10th percentile, and fewer long-term therapies compared with late-clinically diagnosed patients. No other differences were found. CONCLUSIONS. Newborn screening was associated with improved growth, reduced morbidity, and reduced therapy, yet generated equivalent pulmonary outcome compared with late clinical diagnosis, suggesting that newborn screening may slow cystic fibrosis lung disease progression.

Clinical diagnosis, Cystic fibrosis, Newborn screening
0031-4005
19-28
Sims, Erika J.
5094f024-98f5-4bb0-94b0-f46daa198809
Clark, Allan
a92f39c8-af4d-4903-bbf1-f3a22b1afa16
McCormick, Jonathan
b544ceb8-f88d-48f2-93e4-7e10aa7ffd52
Mehta, Gita
f09fd712-9fca-42ec-869d-576a7fc28d71
Connett, Gary
55d5676c-90d8-46bf-a508-62eded276516
Mehta, Anil
d9fd3956-ffa9-4bf1-8133-5228fb367534
Sims, Erika J.
5094f024-98f5-4bb0-94b0-f46daa198809
Clark, Allan
a92f39c8-af4d-4903-bbf1-f3a22b1afa16
McCormick, Jonathan
b544ceb8-f88d-48f2-93e4-7e10aa7ffd52
Mehta, Gita
f09fd712-9fca-42ec-869d-576a7fc28d71
Connett, Gary
55d5676c-90d8-46bf-a508-62eded276516
Mehta, Anil
d9fd3956-ffa9-4bf1-8133-5228fb367534

Sims, Erika J., Clark, Allan, McCormick, Jonathan, Mehta, Gita, Connett, Gary and Mehta, Anil (2007) Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics, 119 (1), 19-28. (doi:10.1542/peds.2006-1498).

Record type: Article

Abstract

OBJECTIVE. Newborn screening for cystic fibrosis remains controversial because improved pulmonary function has not been established. Studies to date have not accounted for differences in treatments delivered to clinically diagnosed children and newborn-screened controls. Here, we compare outcomes and treatment of patients clinically diagnosed within the newborn-screening reporting window (early-clinically diagnosed), those presenting after this period (late-clinically diagnosed), and patients diagnosed by newborn screening. PATIENTS AND METHODS. In a cross-sectional analysis of cohorts retrospectively ascertained, patients who were homozygous ΔF508 with cystic fibrosis, attending specialist cystic fibrosis centers, and 1 to 10 years of age between 2000 and 2002 were identified from the United Kingdom Cystic Fibrosis Database and stratified into newborn-screened, early-clinically diagnosed, or late-clinically diagnosed cohorts. Two analyses were performed: (1) after restricting to the most recent year of data collection, early-clinically diagnosed and late-clinically diagnosed cohorts were matched to newborn-screened patients by patient age and year of data collection (133 patients per cohort were identified); and (2) for all years of data collection, annual sets of data for early-clinically diagnosed and late-clinically diagnosed patients were matched to newborn-screened patients by patient age and year of data collection (291 data sets per cohort were identified). Median height and weight z scores, proportion of patients with height and weight <10th percentile, prevalence of chronic Pseudomonas aeruginosa infection, Shwachman-Kulczyki morbidity scores, percent predicted forced expiratory volume in 1 second, and numbers of long-term therapies were compared. RESULTS. In both analyses, newborn screening was associated with higher height z score, higher Shwachman-Kulczyki score, lower likelihood of height <10th percentile, and fewer long-term therapies compared with late-clinically diagnosed patients. No other differences were found. CONCLUSIONS. Newborn screening was associated with improved growth, reduced morbidity, and reduced therapy, yet generated equivalent pulmonary outcome compared with late clinical diagnosis, suggesting that newborn screening may slow cystic fibrosis lung disease progression.

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More information

Published date: January 2007
Keywords: Clinical diagnosis, Cystic fibrosis, Newborn screening

Identifiers

Local EPrints ID: 420608
URI: http://eprints.soton.ac.uk/id/eprint/420608
ISSN: 0031-4005
PURE UUID: da59e51f-8c8a-4b12-ab5c-22d72fb614ee
ORCID for Gary Connett: ORCID iD orcid.org/0000-0003-1310-3239

Catalogue record

Date deposited: 10 May 2018 16:31
Last modified: 07 Oct 2020 02:20

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Contributors

Author: Erika J. Sims
Author: Allan Clark
Author: Jonathan McCormick
Author: Gita Mehta
Author: Gary Connett ORCID iD
Author: Anil Mehta

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