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Living With Phenylketonuria From the Point of View of Children, Adolescents, and Young Adults: A Qualitative Study
Journal of Developmental and Behavioral Pediatrics,

Di Ciommo V et al. – 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.

Methods
  • 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.

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