Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese

Abstract

The phenylketonuria -quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (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), it was developed and validated in eight countries. The objective of this study was to linguistically validate the PKU-QOL questionnaire in Brazilian Portuguese for use in Brazil by clinicians who take care of PKU patients. The translation method used a standard linguistic validation process. The British English version served as a basis for translation. No major cultural or semantic issues were found during the process. The main difficulty was the use of the acronym "PKU" in the first translations. During the cognitive interviews, respondents made the confusion between the disease itself and the food supplement since it is written "PKU" or "COMIDA-PKU" on the packaging of the product. To overcome this issue, it was decided to use fenilcetonúria (fenil) or fenil alone throughout all versions. The PKU-QOL will be valuable for Brazilian healthcare providers in individualizing treatment and managing patients with PKU.

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil

“…29 It has been validated in eight countries (France, Germany, Italy, The Netherlands, Spain, Turkey, the United Kingdom, and the United States of America, but it has only been linguistically validated in Brazil). 32 The PKU-QOL questionnaire was well accepted by the participants of the linguistic validation study, which confirmed the relevancy of the original questions to Brazilian patients and their caregivers. 32…”

“…32 The PKU-QOL questionnaire was well accepted by the participants of the linguistic validation study, which confirmed the relevancy of the original questions to Brazilian patients and their caregivers. 32…”

“…29 It has been validated in eight countries (France, Germany, Italy, The Netherlands, Spain, Turkey, the United Kingdom, and the United States of America, but it has only been linguistically validated in Brazil). 32 The PKU-QOL questionnaire was well accepted by the participants of the linguistic validation study, which confirmed the relevancy of the original questions to Brazilian patients and their caregivers. 32 The PKU-SSIS is a patient-reported outcomes instrument designed to evaluate symptom severity and the impact of PKU on health-related quality of life, with a particular focus on neuropsychological symptoms and associated impacts.…”

“…In Brazil, the PKU-QOL tool has already been translated and linguistically validated 32 ; however, the validation of the questionnaire with Brazilian patients has not yet been performed.…”

“…12 Through the use of the PKU-QOL questionnaire, it has already been shown that PKU has negative impacts on patients' lives, mainly related to the emotional impact of the disease and its management (some patients feel anxious about controlling their blood Phe levels or guilt about poor adherence to dietary treatment). 31 In Brazil, the PKU-QOL tool has already been translated and linguistically validated 32 ; however, the validation of the questionnaire with Brazilian patients has not yet been performed.…”