Bronchopulmonary Disease in Children with Cystic Fibrosis after Early or Delayed Diagnosis

Farrell, Philip M.; Li, Zhanhai; Kosorok, Michael R.; Laxova, Anita; Green, Christopher C.; Collins, Jannette; Lai, Hui Chuan; Rock, Michael J.; Splaingard, Mark

doi:10.1164/rccm.200303-434oc

Cited by 123 publications

(128 citation statements)

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“…23,29,30,[63][64][65] Positive CF Diagnosis When the CF NBS result indicates a high likelihood of CF, the NBS program should alert the clinical care center to allow the parents to meet with a CF clinician at the time of the sweat-test visit. Ideally, the parents of any infant with a positive sweat-test result should be able to meet with a CF clinician before leaving the clinical care center.…”

Section: Borderline Sweat-test Resultsmentioning

confidence: 99%

“…Access to a genetic counselor and CF clinician is also helpful if there is a family history of CF, a genotype requiring literature review, or information on sensitive issues such as misattributed paternity. In addition, because infants with CF could be subjected to health care-acquired infection during their diagnostic evaluation or early treatment, 23 testing and clinical care should take place at sites where this risk is recognized and rigorous CF infection-control guidelines are followed carefully. 51 Ideally, the sweat test should be available within 2 to 3 hours' driving distance for the family.…”

Section: Sweat-test Laboratory Qualificationsmentioning

confidence: 99%

“…Families of those with CF also benefit substantially from CF NBS, because they avoid the average 15-month delay between onset of symptoms and diagnosis 17 along with the accompanying anxiety, frustration, and emotional distress. 23 Costs of diagnosis, and possibly treatment (through fewer hospitalizations), are reduced by NBS. 24 Finally, families can benefit from genetic counseling and identification of CF in older siblings as a result of NBS discovery of CF mutations.…”

mentioning

confidence: 99%

“…These risks include the potential that infants with CF could have a delayed diagnosis by primary care providers (PCPs) who believe a negative NBS result is definitive, 25 and that infants who are properly identified with CF by the screen could be exposed to health care-acquired infections during the diagnostic evaluation or early treatment. 23 The families of infants with a positive screening result but not CF could experience unnecessary anxiety before the diagnostic result, 26,27 and doubts regarding the health of their normal infant may persist even afterward. [28][29][30][31] Recognition of these risks is vital for optimal NBS-program design.…”

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confidence: 99%

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Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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Section: Borderline Sweat-test Resultsmentioning

confidence: 99%

Section: Sweat-test Laboratory Qualificationsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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“…Celle-ci avait montré, au moment où le DNM était venu à l'ordre du jour, un avantage en termes de taille et probablement de poids des enfants dépistés, mais sans résultat notable sur la fonction respiratoire [16]. Toutefois, après l'avis rendu du groupe de travail, elle avait mis en évidence des niveaux supérieurs d'infections des voies respiratoires dans le groupe des enfants dépistés par rapport aux enfants diagnostiqués sur symptômes, en raison de l'existence de centres mal conçus dans lesquels des enfants dépistés se trouvaient dès le plus jeune âge à proximité de malades plus âgés [17]. La troisième ligne de différenciation était morale, et s'exprimait à travers la définition des objectifs et des bénéficiaires du dépistage.…”

Section: Acteurs Et Enjeux Du Débat En Franceunclassified

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Vailly

2007

Med Sci (Paris)

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Longitudinal Development of Mucoid <EMPH>Pseudomonas aeruginosa</EMPH> Infection and Lung Disease Progression in Children With Cystic Fibrosis

Li¹

2005

JAMA

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Context Although Pseudomonas aeruginosa is the most common virulent respiratory pathogen in cystic fibrosis (CF), the longitudinal development of P aeruginosa infection and its effect on antibody responses and lung disease progression in children with CF remain unclear.Objective To prospectively examine the epidemiology of P aeruginosa infection and its impact on CF pulmonary morbidity. Design, Setting, and PatientsWe prospectively evaluated 56 CF patients at 2 CF centers in Madison and Milwaukee, Wis, from birth up to age 16 years between April 15, 1985, and April 15, 2004, with diagnoses made through the Wisconsin CF Neonatal Screening Project.Main Outcome Measures Timing of nonmucoid P aeruginosa and mucoid P aeruginosa acquisition was assessed by first positive result. Longitudinal development from no P aeruginosa to nonmucoid P aeruginosa and from nonmucoid P aeruginosa to mucoid P aeruginosa was examined. Outcome measurements included antibody titers, respiratory symptoms, quantitative chest radiography, and pulmonary function tests. ResultsSixteen patients (29%) acquired nonmucoid P aeruginosa in the first 6 months of life. The age-specific prevalence of mucoid P aeruginosa increased markedly from age 4 to 16 years. Nonmucoid and mucoid P aeruginosa were acquired at median ages of 1.0 and 13.0 years, respectively. In contrast with the short transition time from no P aeruginosa to nonmucoid P aeruginosa, the transition time from nonmucoid to mucoid P aeruginosa was relatively long (median, 10.9 years) and could be slightly extended by brief/low anti-P aeruginosa antibiotic treatment. Antibody titers increased with both transitions, but the deterioration in cough scores, chest radiograph scores, and pulmonary function correlated best with transition from nonmucoid to mucoid P aeruginosa.Conclusions Early prevention and detection of nonmucoid and mucoid P aeruginosa are critical because of early acquisition and prevalence. There is a window of opportunity for suppression and possible eradication (by aggressive anti-P aeruginosa treatment) of initial nonmucoid P aeruginosa. Mucoid P aeruginosa plays a much greater role in CF lung disease progression than nonmucoid P aeruginosa. Antibody titers, cough scores, and chest radiographs are early signs of nonmucoid P aeruginosa and especially mucoid P aeruginosa stages.

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Bronchopulmonary Disease in Children with Cystic Fibrosis after Early or Delayed Diagnosis

Cited by 123 publications

References 45 publications

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Dépisterles nouveau-nés

Longitudinal Development of Mucoid <EMPH>Pseudomonas aeruginosa</EMPH> Infection and Lung Disease Progression in Children With Cystic Fibrosis

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