Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria

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• 作者：Chiara Cazzorla (10)
  Luca Cegolon (11) (12)
  Alessandro P Burlina (13)
  Andrea Celato (10)
  Pamela Massa (10)
  Laura Giordano (10)
  Giulia Polo (10)
  Aurora Daniele (14) (15)
  Francesco Salvatore (15) (16)
  Alberto B Burlina (10)
  
  10. Division of Inborn Metabolic Diseases ; Department of Pediatrics ; Padua University Hospital ; Padua ; Italy
  11. Department of Cardiac ; Thoracic and Vascular Sciences ; Padua University Hospital ; Padua ; Italy
  12. Department of Infectious Disease Epidemiology ; London School of Hygiene & Tropical Medicine ; London ; UK
  13. Neurological Unit ; St. Bassiano Hospital ; Bassano del Grappa ; Italy
  14. Department of Environmental Sciences ; Biological and Pharmaceutical Technologies ; Second University of Naples ; Caserta ; Italy
  15. CEINGE-Biotecnologie Avanzate S.c.a.r.l. ; Naples ; Italy
  16. IRCCS SDN-Foundation ; Naples ; Italy
  
• 关键词：Phenylketonuria ; Tetrahydrobiopterin ; Quality of life ; Word Health Organization Quality Of Life questionnaire ; 100
• 刊名：BMC Public Health
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：316 KB
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  49. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2458/14/1243/prepub
  
• 刊物主题：Public Health; Medicine/Public Health, general; Epidemiology; Environmental Health; Biostatistics; Vaccine;
• 出版者：BioMed Central
• ISSN：1471-2458

文摘

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 (PedsQLTM). 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.