An overview of international literature from cystic fibrosis registries: 2. Neonatal screening and nutrition/growth

Salvatore, Donatello; Buzzetti, Roberto; Baldo, Ermanno; Forneris, Maria Pia; Lucidi, Vincenzina; Manunza, Daniela; Marinelli, Italo; Messore, Barbara; Neri, Anna Silvia; Raia, Valeria; Furnari, Maria Lucia; Mastella, Gianni

doi:10.1016/j.jcf.2009.11.002

Next »Journal of Cystic Fibrosis
Volume 9, Issue 2 , Pages 75-83, March 2010

An overview of international literature from cystic fibrosis registries:

2. Neonatal screening and nutrition/growth

Donatello Salvatore
- Cystic Fibrosis Centre, Ospedale San Carlo, Potenza, Italy
Roberto Buzzetti
- Italian Cystic Fibrosis Research Foundation, Verona, Italy
Ermanno Baldo
- Cystic Fibrosis Service, Ospedale Santa Maria del Carmine, Rovereto Trento, Italy
Maria Pia Forneris
- Pediatric Cystic Fibrosis Centre, Ospedale Regina Margherita, Torino, Italy
Vincenzina Lucidi
- Cystic Fibrosis Centre, Ospedale Pediatrico Bambino Gesù, Roma, Italy
Daniela Manunza
- Cystic Fibrosis Centre, Ospedale Brotzu, Cagliari, Italy
Italo Marinelli
- Pediatric Division, Ospedale di Agnone, Isernia, Italy
Barbara Messore
- Adult Cystic Fibrosis Centre, Ospedale San Luigi, Torino Orbassano, Italy
Anna Silvia Neri
- Cystic Fibrosis Centre, Ospedale Meyer, Firenze, Italy
Valeria Raia
- Pediatric Cystic Fibrosis Centre, Policlinico Federico II, Napoli, Italy
Maria Lucia Furnari
- Cystic Fibrosis Centre, Ospedale dei Bambini Di Cristina, Palermo, Italy
Gianni Mastella
- Italian Cystic Fibrosis Research Foundation, Verona, Italy
- Corresponding author.

Received 7 July 2009; received in revised form 1 October 2009; accepted 5 November 2009.

Abstract

Background

This is the second article related to a review of the literature based on data from national cystic fibrosis (CF) registries up to June 2008 and covering a total of 115 studies. It focuses on two topics: neonatal screening (NS) and nutritional status, with particular reference to growth.

Methods

Ten papers meeting the inclusion criteria were found on the topic of NS and its impact on the course of the disease, and were analyzed according to a dedicated grid. The issue of nutrition was addressed by 14 studies, analyzed according to similar criteria.

Results

Most of the studies report benefits of early diagnosis by NS, albeit to variable degrees. The benefits were assessed in terms of better nutritional status and growth, but also in terms of lower overall morbidity rate as compared to subjects diagnosed by symptoms. The main biases of these studies, which partly undermine the validity of their results, are also analyzed.

A part of our analysis on nutrition/growth is dedicated to the identification of the most suitable parameters to define malnutrition: in children older than two years the body mass index percentile (BMIp) appears to be the most sensitive and significantly associated with respiratory function. Better nutritional status and satisfactory growth appear to be associated with better lung function and lower risk of death. The relationship between nutritional status and socio-economic status is also of interest.

Conclusions

CF registry studies support the outcome of cohort observational studies i.e. that pre-symptomatic early diagnosis is beneficial, especially in terms of nutritional status and growth. Studies on nutrition indicate that good nutritional status is associated with better respiratory function and prognosis. Regarding methods, the need emerged to manage potential biases of this kind of non randomized studies, resorting to suitable statistical techniques, such as matching and stratification and, above all, to multivariate methods able to provide estimates adjusted for the main covariates tested.

Keywords: Cystic fibrosis, Patient registry, Newborn screening, Growth, Nutrition, Epidemiology