Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)

• Published in: Journal of Pediatric Endocrinology & Metabolism Vol. 33; no. 7; pp. 901 - 913
• Main Authors: Ben Abdelaziz, Rim, Ben Chehida, Amel, Kachouri, Henda, Ben Messaoud, Sana, Ferchichi, Maherzia, Ben Ameur, Zeineb, Sassi, Yosra, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Tebib, Néji
• Format: Journal Article
• Language: English
• Published: Berlin De Gruyter 28.07.2020; Walter de Gruyter GmbH
• Subjects: autism; children; Cross-sectional studies; Medical screening; parents; Parents & parenting; Phenylketonuria; Quality of life; SF-36; Tunisia; Tunisia
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/jpem-2020-0035

Abstract Objectives We investigated the quality of life (QOL) in parents of children with late treated phenylketonuria (PKU) and its associated factors. Methods We conducted a cross sectional study in the reference center of inherited metabolic disease in Tunisia. We used the Tunisian version of the 36-item short-form health survey questionnaire (SF-36). We compared variables in the groups with and without impaired QOL and the SF-36 scores between subgroups of parents and children and between our sample and the Tunisian general population based on published data. We looked for associations between SF-36 scores and quantitative variables. Linear regression and logistic binary regression were used for multivariate analysis. Results Sixty-five parents from 42 families participated. QOL was impaired in 61% of them. The mean SF-36 score was 55.3 ± 25.07. The physical component sub-score was higher than that reported in the Tunisian general population (63.66 ± 27.77 vs. 50.11 ± 8.53; p<0.001). The mental component sub-score was comparable to that reported in the Tunisian general population (46.99 ± 25.94 vs. 47.96 ± 9.82; p=0.830). Gender (mothers) (p=0.008), low monthly income (p = 0.027), low education (p=0.011), and autism in PKU children (p = 0.001) were associated with impaired QOL. Conclusions We identified at risk parents for altered quality of life among parents of PKU children. Our findings were used to develop a psychological and social support strategy for at-risk parents and to promote the implementation of newborn screening of this treatable disease in our low-income country.