TY - JOUR
T1 - Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands
T2 - The Parental Perspective
AU - Haitjema, Sietske
AU - Lubout, Charlotte M.A.
AU - Zijlstra, Justine H.M.
AU - Wolffenbuttel, Bruce H.R.
AU - van Spronsen, Francjan J.
N1 - Funding Information:
B.H.R.W. and J.H.M.Z. reported to have no conflict of interest. S.H. has received a research grant from Stichting Vrienden Beatrix Kinderziekenhuis. F.J.v.S. is/has been a member of scientific advisory boards for defects in amino acid metabolism of APR, Agios, Arla Food International, BioMarin, Eurocept Int, Lucana, Moderna TX, Nutricia, Rivium, Homoly, and Nestle-Codexis, his institute has received research grants from Alexion, Biomarin, Codexis, Nutricia, SoBi, and Vitaflo, has received grants from patient organizations ESPKU, Metakids, NPKUA, Stofwisselkracht, Stichting PKU research and Tyrosinemia Foundation, and has received honoraria as consultant and speaker from APR, Pluvia, Biomarin, MendeliKABS and Nutricia. C.M.A.L. has received a speaker fee from the Recordati Rare Disease Foundation.
Publisher Copyright:
© 2022 by the authors.
PY - 2022/10
Y1 - 2022/10
N2 - 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.
AB - 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.
KW - communication
KW - general practitioner
KW - new-born screening
KW - parental perspective
KW - phenylketonuria
U2 - 10.3390/nu14193961
DO - 10.3390/nu14193961
M3 - Article
AN - SCOPUS:85139800716
VL - 14
JO - Nutrients
JF - Nutrients
SN - 2072-6643
IS - 19
M1 - 3961
ER -