Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country.

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.

Stress and quality of life in parents of children with phenylketonuria.

BACKGROUND: Phenylketonuria is a hereditary disease caused by the lack or deficiency of phenylalanine hydroxylase enzyme activity. Parents of children with phenylketonuria undergo significant stress during their childcare years. They are also responsible for controlling their children's dietary treatment and this may affect their quality of life. The purpose of this study was to investigate the relationship between stress and quality of life in parents of children with phenylketonuria. METHODS: The present cross-sectional study is a correlation-analytical research performed on parents of children with phenylketonuria in Kerman province in Iran in 2017. In total, 124 parents were chosen by consensus method. Parents completed the perceived stress scale and quality of life (SF36). SPSS software version 18 (https://www.presidion.com/software/ibm-spss-trial-downloads/) was used to analyze the data. RESULTS: Total scores of stress and quality of life were 28.81 ± 8.74 and 45.97 ± 21.22. There was a significant negative correlation between quality of life and perceived stress (p < 0.001 and ρ = -0.58). CONCLUSION: Parents of children with phenylketonuria have moderate quality of life and relatively high stress. The medical community and authorities should take steps to improve the quality of life and reduce stress experienced by parents of children with phenylketonuria.

Supporting development of children with chronic conditions: from compliance toward shared management.

Children with chronic conditions can meet the overall health outcomes articulated in Bright Futures (1994), a model outlining a continuum of social, developmental, and health outcome achievements that help shape an independent, healthy adult. These outcomes begin with the development of a therapeutic alliance between families and providers and end with an independent, healthy functioning adult. The achievement of these outcomes does not come without the support of providers, however. Health care providers ideally merge multiple models of practice to provide an anticipatory guidance approach throughout the child's life to assist the family in this important task. Three models have been found useful: developmental, leadership, and changing foci, which families can merge into every day life.

Maternal phenylketonuria: a new cause for concern.

The start of newborn screening for phenylketonuria (PKU) during the early 1970s has given rise to an increasing number of women who have been identified and successfully treated for the disease in childhood and are now preparing to have children of their own. Early detection and initiation of nutritional therapy before conception is key to a successful pregnancy outcome. Nurses who understand the pathophysiology, dietary limitations, and management of PKU in pregnancy can provide the care necessary for optimal maternal and neonatal health.

Phenylketonuria: an update for pediatric community health nurses.

Successful management of phenylketonuria (PKU) requires a team effort from health care providers, the child, family, and friends. Community health nurses can be family advocates to coordinate information and resources. Nurses can help parents gain confidence in their abilities to care for their child by giving appropriate guidance and positive reinforcement.

Nurses' role in preventing birth defects in offspring of women with phenylketonuria.

Most women who began nutrition support as neonates for a diagnosis of phenylketonuria, an inherited defect in phenylalanine metabolism, are of normal intelligence, no longer require a restricted diet, and wish to have children of their own. Phenylketonuria that is untreated when a woman conceives and during gestation results in poor reproductive outcomes. Treatment with and careful monitoring of a phenylalanine-restricted diet can improve reproductive outcome. Nurses have the primary responsibility in locating women of childbearing age with phenylketonuria; developing strategies to improve palatability of the diet, thereby enhancing compliance; providing ongoing monitoring and support of the mother-child dyad; and counseling couples at risk.

Maternal phenylketonuria: case management as a preventive approach to a chronic condition affecting pregnancy.

Women with PKU are at extremely high risk for bearing children with multiple congenital anomalies and mental retardation. PKU related psychoeducational and psychosocial issues can impact reproductive decision making and the ability to resume and/or maintain a restricted phenylalanine diet prior to and during pregnancy. Intensive case management may provide a preventive approach to the current "crisis" in the management of maternal phenylketonuria, as well as facilitate ongoing diet therapy during adolescence and adulthood.

Phenylketonuria: counseling and teaching functions of the nurse on an interdisciplinary team.

Phenylketonuria (PKU) is estimated to occur in 1 in 8,000 to 20,000 live births. Newborn screening identifies these children and proper dietary management changes the course of their lives from mental retardation to normal intelligence. However, there are many factors that influence whether the family and the person with PKU will cope satisfactorily with this lifelong condition. Interdisciplinary teams often assist the family and client with this process. As a member of the team the nurse assumes a counseling and teaching role. That role, following a developmental perspective, is presented in this article.