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

Rim Ben Abdelazizhttp://orcid.org/https://orcid.org/0000-0002-7690-1310 1 , 2 , 3 , Amel Ben Chehida 1 , 2 , 3 , Henda Kachouri 3 , Sana Ben Messaoud 3 , Maherzia Ferchichi 1 , Zeineb Ben Ameur 1 , Yosra Sassi 1 , Mohamed Slim Abdelmoula 1 , 2 , 3 , Hatem Azzouz 1 , 2 , 3 ,  and Néji Tebib 1 , 2 , 3
  • 1 Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • 2 Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, Tunis, Tunisia
  • 3 Research Laboratory, University Tunis El Manar, LR12SPO2, Tunis, Tunisia
Rim Ben AbdelazizORCID iD: https://orcid.org/0000-0002-7690-1310
  • Corresponding author
  • Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, La Rabta, 1007, Tunis, Tunisia
  • Research Laboratory, LR12SPO2, University Tunis El Manar, Tunis, Tunisia
  • orcid.org/0000-0002-7690-1310
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, Amel Ben Chehida
  • Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, La Rabta, 1007, Tunis, Tunisia
  • Research Laboratory, LR12SPO2, University Tunis El Manar, Tunis, Tunisia
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, Henda Kachouri, Sana Ben Messaoud, Maherzia Ferchichi, Zeineb Ben Ameur, Yosra Sassi, Mohamed Slim Abdelmoula
  • Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, La Rabta, 1007, Tunis, Tunisia
  • Research Laboratory, LR12SPO2, University Tunis El Manar, Tunis, Tunisia
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, Hatem Azzouz
  • Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, La Rabta, 1007, Tunis, Tunisia
  • Research Laboratory, LR12SPO2, University Tunis El Manar, Tunis, Tunisia
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and Néji Tebib
  • Department of Pediatrics, La Rabta Hospital, Jabbari, 1007, Tunis, Tunisia
  • Faculty of Medicine of Tunis, University Tunis El Manar, Djebal Lakhdhar Street, La Rabta, 1007, Tunis, Tunisia
  • Research Laboratory, LR12SPO2, University Tunis El Manar, Tunis, Tunisia
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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.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.

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