Living With Phenylketonuria From the Point of View of Children, Adolescents, and Young Adults
- 1 April 2012
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Journal of Developmental & Behavioral Pediatrics
- Vol. 33 (3), 229-235
- https://doi.org/10.1097/dbp.0b013e3182460d8a
Abstract
Objective: To explore the experiences of patients affected by phenylketonuria, a genetic metabolic disease currently screened during the neonatal period, in whom treatment was begun shortly after birth. Dietary treatment of the metabolic abnormality can prevent effects on the central nervous system through infancy, adolescence, and adulthood, but the associated challenges for personal and social life, such as everyday problems of adherence to a strict regimen, have been inadequately studied. Method: A qualitative study was performed using semistructured interviews involving 20 patients aged between 8 and 23 years and referred to a pediatric hospital for phenylketonuria. A thematic framework was formulated in advance which identified the main issues to be investigated, and a list of questions was devised. The interviews were audiotaped and were all transcribed and analyzed by 3 investigators with the support of NVivo software. Results: Patients showed a fair knowledge of their condition but did not feel that they were truly ill. However, they adhered to their treatment regimen although they perceived no direct, immediate, adverse effects of their disease. A long-standing habit of following a demanding diet from infancy emerged from the interviews. A major problem for these patients is the difference perceived when comparing themselves with their peers, and the fear of stigmatization can prevent patients from participating in social occasions during which food is shared. One coping strategy patients may use is to disclose their condition to peers to overcome isolation. Conclusions: The impact of long-standing, demanding health behaviors on the social life of patients affected by a chronic metabolic disease must be recognized, taking into particular consideration both social functioning and adherence to dietary treatment.Keywords
This publication has 20 references indexed in Scilit:
- Psychological adjustment to chronic diseaseThe Lancet, 2008
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)Health and Quality of Life Outcomes, 2008
- The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaJournal of Inherited Metabolic Disease, 2006
- Stigma and its public health implicationsThe Lancet, 2006
- Living with phenylketonuria: Perspectives of patients and their familiesJournal of Inherited Metabolic Disease, 2004
- Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalThe Journal of Pediatrics, 2002
- Dietary Recommendations to Prevent and Manage Chronic Pediatric Health Conditions: Adherence, Intervention, and Future DirectionsJournal of Developmental & Behavioral Pediatrics, 2001
- Review: emotional and behavioral functioning in phenylketonuria.Journal of Pediatric Psychology, 1999
- Framework for identifying children who have chronic conditions: The case for a new definitionThe Journal of Pediatrics, 1993
- Coping with PKU: results of narrative interviews with parentsEuropean Journal of Pediatrics, 1990