Risk stratification model to detect early pulmonary disease in infants with cystic fibrosis diagnosed by newborn
Lacrecia J Britton1, Gabriela R Oates2, Robert A Oster2
1Children's of Alabama Cystic Fibrosis Center, Birmingham, Alabama.
Insights
Newborn screening for cystic fibrosis (CF) can now identify infants at high risk for lung disease using a simple clinical score and socioeconomic data. This tool aids early intervention for better pulmonary outcomes in CF infants.
Area of Science:
- Pediatric Pulmonology
- Genetics and Genomics
- Public Health
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) primarily offers nutritional benefits, with limited impact on early respiratory outcomes.
- Identifying infants with CF at risk for lung disease is crucial for timely interventions.
- Pulmonary function in infants with CF requires sensitive assessment methods.
Purpose of the Study:
- To develop and validate a risk stratification model for early-onset lung disease in infants diagnosed with CF through NBS.
- To combine clinical data and socioeconomic factors to predict respiratory impairment in infants with CF.
- To identify CF infants who may benefit from targeted pulmonary interventions.
Main Methods:
- A retrospective analysis of 43 infants with CF diagnosed via NBS was conducted.
- Infant pulmonary function testing (iPFT) data, clinical information, and socioeconomic data were evaluated.
- A composite clinical score and socioeconomic indicators were used to stratify infants by risk for pulmonary disease.
Main Results:
- Paternal education positively correlated with better lung function in infants with CF.
- A clinical score below 7 predicted diminished pulmonary function (FEV0.5% and FEF25-75%).
- Risk stratification identified distinct groups (low, intermediate, high) with significant differences in pulmonary function.
Conclusions:
- A novel, non-invasive risk stratification tool combining clinical and socioeconomic data can identify CF infants at risk for early lung disease.
- This model facilitates the early detection of respiratory decline, enabling targeted interventions.
- The tool is inexpensive, readily available, and aids in prioritizing care for infants with CF.
Objective:
The clinical benefit of newborn screening (NBS) for cystic fibrosis (CF) has been primarily nutritional, with less overt respiratory impact. Identification of risk factors for infant CF lung disease could facilitate targeted interventions to improve pulmonary outcomes.
Methods:
This retrospective study evaluated socioeconomic information, clinical data, and results from routine infant pulmonary function testing (iPFT) of infants diagnosed with CF through NBS (N = 43) at a single CF center over a 4-year period (2008-2012). A five-item composite clinical score was developed and combined with socioeconomic indicators to facilitate identification of CF infants at increased risk of early-onset respiratory impairment.
Results:
Paternal education was positively associated with lung function (P = 0.02). Clinical score <7 (on a scale of 0-10) predicted diminished pulmonary measure (P < 0.005). Retrospective risk stratification by clinical score and paternal education identified CF infants at low, intermediate, or high risk of pulmonary disease. Forced expiratory volume (FEV0.5 %, mean ± SD) averaged 115 ± 19% in the low-risk group, 97 ± 17% in the intermediate-risk group, and 90 ± 8% in the high-risk group (P < 0.005). Results were similar for mid-expiratory flows (FEF25-75 %). Multiple regression analysis confirmed the predictive value of this risk stratification model of CF infant pulmonary health.
Conclusion:
We combined socioeconomic and clinical data to risk-stratify CF infants for early-onset lung disease as quantified by iPFT. Our model showed significant differences in infant pulmonary function across risk groups. The developed tool offers an easily available, inexpensive, and non-invasive way to assess risk of respiratory decline in CF infants and identify those meriting targeted therapeutic attention. Pediatr Pulmonol. 2016;51:1168-1176. © 2016 Wiley Periodicals, Inc.
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