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Caring for a Child with Phenylketonuria

Parental Experiences from a Eurasian Country

Zengin Akkus, Pinar MD*; Bilginer Gurbuz, Berrak MD; Ciki, Kismet MD; Ilter Bahadur, Evin MD*; Karahan, Sevilay PhD; Ozmert, Elif Nursel MD*; Coskun, Turgay MD; Sivri, Serap MD

Journal of Developmental & Behavioral Pediatrics: October 30, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/DBP.0000000000000748
Original Article: PDF Only

Objectives: Phenylketonuria (PKU) and mild hyperphenylalaninemia (HPA) are characterized by increased blood phenylalanine concentrations varying from mild to severe. Management of PKU was reported to be time consuming and burdensome for caregivers. This study intended to explore the experiences of families caring for a child with PKU/HPA in a country with a high PKU rate. The aim of this study was to compare parental well-being between parents of children with and without dietary restrictions and to explore the factors associated with parental psychological well-being.

Methods: Participants were interviewed about their experiences, concerns, and challenges related to the disease by using a semistructured questionnaire. After the interview, parents filled out the Beck Depression Inventory and State-Trait Anxiety Inventory-Trait.

Results: This study highlighted the adverse psychological, financial, and social effects of the diagnosis and management of the disease regarding the lives of the families of children with PKU/HPA. Although parental anxiety scores of children with and without dietary restrictions were similar, depressive symptom scores were higher in parents of children with dietary restrictions. However, in multiple regression analysis, lower household income and absence of perceived social support were found to be independent factors associated with higher depressive symptom scores. Having a daughter diagnosed with PKU/HPA and lower household income were found to be factors associated with higher anxiety scores.

Conclusion: This study revealed that income level, perceived social support, and gender of the child were factors associated with psychological well-being of parents caring for children with PKU/HPA. Health care professionals should identify the challenges faced by families and should be aware of risk factors associated with lower parental well-being to achieve better family adjustment and better health outcomes.

This article has supplementary material on the web site:

*Division of Developmental Pediatrics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey;

Departments of Pediatrics, Pediatric Metabolism, Biostatistics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Address for reprints: Pinar Zengin Akkus, MD, Division of Developmental Pediatrics, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06230 Ankara, Turkey; e-mail:

Disclosure: The authors declare no conflict of interest.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Web site (

Received March 15, 2019

Accepted September 04, 2019

Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.