title: Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.
abstract: BACKGROUND
  Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments.
  
  
  METHODS
  22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated with diet were recruited in this study. Adult patients completed WHOQOL questionnaire-100 (WHOQOL-100) and pediatric patients the Pediatric QoL inventory (PedsQL(TM)). Psychiatric and mood disorders were also evaluated using TAD or BDI and STAI-Y inventories. A multivariable linear regression model was fitted to investigate the predictors of QoL, including age, sex, treatment type, length of current treatment, educational level and employment status (only for adults) as covariates. Results were presented as regression coefficients with 95% confidence interval.
  
  
  RESULTS
  Global QoL scores were within normal range both in patients with mild and classical disease but global QoL scores were significantly higher in patients with mild PKU under BH4 treatment as compared to those affected by classical disease who were under diet regimen. Furthermore, QoL significantly increased in long treated PKU patients. Among adult patients, QoL scores were significantly lower in males, in patients with lower education and in those employed or unemployed as compared to students (baseline).
  
  
  CONCLUSIONS
  Both diet and medical treatment based upon BH4 seem to be associated with higher QoL in the long run. However, patients with mild PKU can rely on BH4 to achieve a higher Phe tolerance and a better compliance to therapy due to diet relaxation/avoidance. Some specific categories of patients with a lower QoL should be investigated more in depth, engaging with those at risk of lower treatment compliance. The questionnaires employed in the present study seemed to be able to effectively detect criticalities in QoL assessment and represent an advance from previous inventories employed in the past.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cazzorla
authors.forename: Luca
authors.initials: L
authors.lastname: Cegolon
authors.forename: Alessandro P
authors.initials: AP
authors.lastname: Burlina
authors.forename: Andrea
authors.initials: A
authors.lastname: Celato
authors.forename: Pamela
authors.initials: P
authors.lastname: Massa
authors.forename: Laura
authors.initials: L
authors.lastname: Giordano
authors.forename: Giulia
authors.initials: G
authors.lastname: Polo
authors.forename: Aurora
authors.initials: A
authors.lastname: Daniele
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.affiliation: Division of Inborn Metabolic Diseases, Department of Pediatrics, Padua University Hospital, Padua, Italy. alberto.burlina@unipd.it.
authors.forename: Alberto B
authors.initials: AB
authors.lastname: Burlina
mesh_terms: D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000008:administration & dosage*; D001708:Biopterins / Q000008:administration & dosage / Q000031:analogs & derivatives*; D002648:Child; D004032:Diet / Q000379:methods; D004044:Dietary Proteins / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D016014:Linear Models; D008297:Male; D010349:Patient Compliance; D010661:Phenylketonurias / Q000178:diet therapy / Q000188:drug therapy / Q000628:therapy*; D011788:Quality of Life; D011795:Surveys and Questionnaires
chemical_list: D000596:Amino Acids; D004044:Dietary Proteins; D001708:Biopterins; C003402:sapropterin