Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.

In the Netherlands, abnormal New-Born Screening (NBS) results are communicated to parents by the general practitioner (GP). Good communication and consequential trust in professionals is of the utmost importance in the treatment of phenylketonuria (PKU). The aim of this study was to assess parental satisfaction regarding the communication of an abnormal NBS result for PKU in the Netherlands. An email containing the link to a web-based questionnaire was sent by the Dutch PKU Association to their members. Responses to open questions were categorized, data of both open and closed questions were analysed with descriptive statistics and the Chi-Square test using SPSS. Out of 113 parents of a child with PKU (born between 1979 and 2020), 68 stated they were overall unsatisfied with the first communication of the NBS result. Seventy-five parents indicated that wrong or no information about PKU was given. A significant decrease was found in the number of parents being contact by their own GP over the course of 40 years (p < 0.05). More than half of all parents were overall unsatisfied with the first communication of the abnormal NBS result for PKU. Further research on how to optimize communication of an abnormal NBS results is necessary.

Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems.

OBJECTIVES: Dietary treatment in phenylketonuria (PKU) is known to cause eating problems, but knowledge of both prevalence and magnitude, especially for social restrictions, is scarce. Our aim was to evaluate the social restrictions and eating problems that children with PKU and their caregivers experience with dietary treatment. METHODS: A web-based questionnaire, based on the Behavioral Pediatrics Feeding Assessment Scale with additional PKU-specific questions, was developed in close collaboration with and distributed by the Dutch PKU Association, which sent an e-mail to its members containing a link to the questionnaire. The questionnaire was completed by caregivers of children with PKU in the Netherlands and caregivers of age-matched children without PKU. Data were analyzed with the Kruskal-Wallis and Mann-Whitney U test using SPSS. RESULTS: Compared with caregivers of children in the control group (ages 1-16 y; n = 50), caregivers of children with PKU (ages 1-16 y; n = 57) reported more difficulty in offering food variety, experienced more stress when eating an evening meal outside the home and during vacation, and were stricter about (accidental) spilling of food during dinner by the child (P < 0.05). They also reported to being angrier, more frustrated, and more anxious when feeding their child, and they more often felt that their child's eating pattern had a negative influence on the child's general health (P < 0.05). CONCLUSION: This pilot study provides further evidence that restriction of social activities and eating problems associated with dietary restrictions is more common in children with PKU, and warrants awareness on this topic among professionals working with these children.