Jurecki Elaina, Cunningham Amy, Birardi Vanessa, Gagol Grégory, Acquadro Catherine
BioMarin Pharmaceutical Inc., 770 Lindaro Street, San Rafael, 94901, CA, USA.
Hayward Genetics Center SL-31, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, 70112, LA, USA.
Health Qual Life Outcomes. 2017 Mar 9;15(1):46. doi: 10.1186/s12955-017-0620-1.
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).
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.
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.
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.
苯丙酮尿症（PKU）是一种罕见的遗传性疾病，由苯丙氨酸（PHE）代谢缺陷引起，导致血液和大脑中PHE水平升高，并引发认知、情感和社会心理问题。苯丙酮尿症生活质量（PKU-QOL）问卷是首个自行填写的针对特定疾病的工具，旨在评估PKU及其治疗对患者及其照料者健康相关生活质量（HRQL）的影响。PKU-QOL有四个版本（儿童版、青少年版、成人版和家长版），在七个国家（即法国、德国、意大利、荷兰、西班牙、土耳其和英国）同时开发并验证。我们研究的目的是开发并在语言上验证PKU-QOL问卷以便在美国使用。
英国版问卷作为美国英语版PKU-QOL问卷开发的基础。语言验证过程包括4个步骤：1）由一位以美国英语为母语且居住在美国的翻译人员将英国版问卷改编为美国英语版；2）临床医生审核；3）对患者和照料者进行认知访谈，以测试美国英语翻译的恰当性、可理解性和清晰度；4）两次校对。
从英国英语到美国英语的改编揭示了两种语言常见的句法和习语差异，例如：1）拼写，如“dietician”（英国）与“dietitian”（美国），或“mum”（英国）与“mom”（美国）；2）句法或标点；3）词汇/表达方式的使用，如“holidays”（英国）与“vacation”（美国），或“biscuits”（英国）与“crackers”（美国）。主要问题是文化方面的，包括在整个问卷中使用不同的术语来描述PKU治疗。临床医生在访谈期间与患者和照料者建议用“医学配方食品”取代“补充剂和氨基酸混合物”或“补充剂”。该措辞后来改为“医用食品”，以与美国当前发布的指南中使用的术语保持一致。
将英国英语版PKU-QOL问卷翻译成美国英语版并未引发关键的语义和文化问题。PKU-QOL对于美国医疗服务提供者在个性化治疗和管理PKU患者方面将具有重要价值。
