title: Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.
abstract: BACKGROUND
  Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e., France, Germany, Italy, The Netherlands, Spain, Turkey and the United Kingdom (UK)]. The objectives of our study were to develop and linguistically validate the PKU-QOL questionnaire for use in the United States (US).
  
  
  METHODS
  The UK versions served as a basis for the development of the US English PKU-QOL questionnaire. The linguistic validation process consisted of 4 steps: 1) adaptation of the UK versions into US English by a translator native of US English and living in the US; 2) a clinician review; 3) cognitive interviews with patients and caregivers to test the appropriateness, understandability and clarity of the US translations; and 4) two proof-readings.
  
  
  RESULTS
  The adaptation from UK to US English revealed the usual syntactic and idiomatic differences between the two languages, such as differences in: 1) Spelling, e.g., "dietician" (UK) vs. "dietitian" (US), or "mum" (UK) vs. "mom" (US); 2) Syntax or punctuation; and 3) Words/expressions use, e.g., "holidays" (UK) vs. "vacation" (US), or "biscuits" (UK) vs. "crackers" (US). The major issue was cultural, and consisted of using a different terminology to describe PKU treatment throughout the questionnaires. The clinician, with the patients and the caregivers, during the interviews suggested to replace "supplement and amino-acid mixture" or "supplements" with "medical formula." This wording was later changed to "medical food" to be consistent with the terminology used in current US published guidelines.
  
  
  CONCLUSIONS
  The translation of the UK English PKU-QOL questionnaire into US English did not raise critical semantic and cultural issues. The PKU-QOL will be valuable for US healthcare providers in individualizing treatment and managing patients with PKU.
authors.affiliation: BioMarin Pharmaceutical Inc., 770 Lindaro Street, San Rafael, 94901, CA, USA.
authors.forename: Elaina
authors.initials: E
authors.lastname: Jurecki
authors.affiliation: Hayward Genetics Center SL-31, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, 70112, LA, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Cunningham
authors.affiliation: BioMarin Pharmaceutical Inc., 770 Lindaro Street, San Rafael, 94901, CA, USA.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Birardi
authors.affiliation: Mapi Language Services, 27 rue de la Villette, Lyon, 69003, France.
authors.forename: Grégory
authors.initials: G
authors.lastname: Gagol
authors.affiliation: Mapi Research Trust, 27 rue de la Villette, Lyon, 69003, France. cacquadro@mapigroup.com.
authors.forename: Catherine
authors.initials: C
authors.lastname: Acquadro
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010661:Phenylketonurias / Q000175:diagnosis*; D011594:Psychometrics; D036301:Qualitative Research; D011788:Quality of Life / Q000523:psychology*; D011795:Surveys and Questionnaires / Q000592:standards*; D014177:Translations; D014481:United States
keywords: Health-related quality of life; Linguistic validation; PKU-QOL questionnaire; Phenylketonuria; Translation