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Delayed cystic fibrosis presentation in children in the absence of newborn screening.
Jackson, A ; Foley, L ; Daly, L ; Fitzpatrick, P ; Harrington, M ; Zhou, S ; Kelleher, C
Jackson, A
Foley, L
Daly, L
Fitzpatrick, P
Harrington, M
Zhou, S
Kelleher, C
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Other Contributors
Date
2010-04
Date Submitted
Keywords
Other Subjects
Subject Mesh
Adolescent
Adult
Cystic Fibrosis
Female
Humans
Infant, Newborn
Logistic Models
Male
Middle Aged
Neonatal Screening
Odds Ratio
Time Factors
Young Adult
Adult
Cystic Fibrosis
Female
Humans
Infant, Newborn
Logistic Models
Male
Middle Aged
Neonatal Screening
Odds Ratio
Time Factors
Young Adult
Planned Date
Start Date
Collaborators
Principal Investigators
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20486315.pdf
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Abstract
Newborn cystic fibrosis (CF) screening facilitates early diagnosis and nutritional intervention, which prevents malnourishment and improves growth in childhood. To provide baseline information on the natural history of CF in the Republic of Ireland, where newborn screening has not yet been introduced and CF incidence is high (1:1353 live births), we examined the effect of presentation mode, symptom type and gender on age at diagnosis. Median age at diagnosis was calculated by gender and for presentation mode/symptom type for 601 CF registry children diagnosed 1986-2007. Modes of presentation were each significantly associated with delayed presentation. An adjusted odds ratio of 4.5 (95% CI: 1.8, 11.1) was determined for presentation with family history, 43.1 for gastrointestinal symptoms presentation (95% CI: 18.3, 101.4), 96.9 for both respiratory and gastrointestinal symptoms (95% CI: 38.6, 243,4), and 115.4 for respiratory symptoms (95% CI: 45.2, 294.7). Children with respiratory symptoms had the greatest likelihood of delayed diagnosis (median age: 20.4 months), followed by those with respiratory and gastrointestinal symptoms (9.2 months). Gender was not significantly associated with a delayed presentation when presentation mode was taken into account.
Language
en
ISSN
0332-3102
eISSN
ISBN
DOI
PMID
20486315
