Fact Sheet: Cystic Fibrosis

Cystic fibrosis (CF) is a common autosomal recessive, life-shortening disorder. The genetic mutations associated with CF cause the body to produce unusually thick and sticky mucus that has a negative multisystem impact. CF is a progressive disease and optimal CF care requires a complex, timely, and burdensome daily care regimen.

Prevalence and course

More than 30,000 individuals with CF currently living in the United States, with more than 1,000 people being newly diagnosed with CF each year. The current median predicted survival age for individuals with CF has increased to the mid-thirties due to advances in CF lung disease therapies. The inclusion of CF in state newborn screening programs has led to early detection and intervention for newborns before the onset of clinical symptoms. 

Health and Psychosocial Consequences

The most recognized hallmark of CF is progressive and obstructive lung disease. However, CF impacts several body systems (e.g., pancreatic function, gastrointestinal concerns, liver disease, increased risk of infection), growth, and nutritional status. Problems with malabsorption of fat, protein, and nutrients make it difficult for individuals with CF to reach and maintain a healthy body weight, which can impact lung function. Many children with CF remain underweight and adherence rates to the increased calorie intake recommendations are low. Mealtime behavior and eating concerns are common in young children with CF. Research has documented the resilience of individuals with CF and their families. Most patients and parents report good quality of life and non-clinical levels of psychological symptoms. Adolescents with CF may have elevated depressive symptoms, anxiety and stress. Functional impairment may occur (e.g., missing school), and social functioning may be affected. 

Evidence-based Assessment

Current evidence-based guidelines recommend assessing for mealtime behavior concerns using the Behavioral Pediatrics Feeding Assessment Scale. Other important areas of assessment are quality of life and emotional and behavioral functioning. Treatment adherence (e.g., airway clearance, nebulized antibiotics) is often assessed through self-report given the cost/time needed to interpret and use objective data, collected through MEMS™ caps for example. Advances in technology have increased feasibility of obtaining and using this information clinically.     

Culture, Diversity, Demographic, and Developmental Factors

CF is most prevalent in Caucasian populations, occurring less frequently in Hispanic and African-American populations (6.9 and 4.3 percent, respectively). Socioeconomic status has been identified as an important predictor of health outcomes. Disease course is also significantly affected by developmental processes, including the transition to independent and adult care, which is an area receiving increased clinical and research attention.  

Evidence-based Interventions

There is good support for the effectiveness of behaviorally-based nutrition recommendations to increase daily calories and improve growth for toddlers and school-age children. Treatment includes dietary monitoring, goal setting, differential attention, shaping and contingency management. Use of technology is also starting to be incorporated into research methodology and interventions aimed to improve coping and adherence in CF.

References

Cystic Fibrosis Foundation (2012). Patient Registry 2010 Annual Report (PDF, 3.2MB). Retrieved July 3, 2012.

Borowitz, D., Robinson, K. A., Rosenfeld, M., Davis, S. D., Sabadosa, K. A, Spear, S. L., et al. (2009).  Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. Journal of Pediatrics, 155(6), S73–93.

Ernst, M. M., Johnson, M. C., Stark, L. J. (2012).  Developmental and psychosocial issues in CF. Child and Adolescent Psychiatric Clinics of North America, 19(2), 263–282.

Stallings, V. A., Stark, L. J., Robinson, K. A., Feranchak, A. P., Quinton, H. (2008). Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: results of a systematic review. Journal of the American Dietetic Association, 108(5), 832–839.

Stark, L. J., Quittner, A. L., Powers, S. W., Opipari-Arrigan, L., Bean, J. A., Duggan, C., et al. (2009).  Randomized clinical trial of behavioral intervention and nutrition education to improve caloric intake and weight in children with cystic  fibrosis. Archives of Pediatric and Adolescent Medicine, 163(10), 915–921.