TY - JOUR
T1 - Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria
T2 - A 6 Month Follow-Up Report
AU - Gama, Maria Inês
AU - Daly, Anne
AU - Ashmore, Catherine
AU - Evans, Sharon
AU - Moreira-Rosário, André
AU - Rocha, Júlio César
AU - MacDonald, Anita
N1 - Funding Information:
M.I.G. has received a Recordati Rare Disease Grant Ed. 2021–2022 from the Portuguese Society of Metabolic Diseases (SPDM) to develop this work in the worth of 3000€.
Funding Information:
M.I.G. has received travelling grants from Cambrooke Therapeutics and Nutricia to attend scientific meetings. A.D. received research funding from Vitaflo International, financial support from Nutricia, Mevalia and Vitaflo International to attend study days and conferences. J.C.R. was a member of the European Nutritionist ExpertPanel (Biomarin), the Advisory Board for Applied Pharma Research, Vitaflo, Synlogic, Biomarin and Nutricia, and received honoraria as a speaker from APR, Merck Serono, Biomarin, Nutricia, Vitaflo, Cambrooke, PIAM and Lifediet. S.E. received research funding from Nutricia, and financial support from Nutricia and Vitaflo International to attend study days and conferences. C.A. received honoraria from Nutricia and Vitaflo International to attend study days and conferences. A.M. has received research funding and honoraria from Nutricia, Vitaflo International, and Biomarin. She is a Member of the Advisory Board Element (Danone-Nutricia). The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.
Publisher Copyright:
© 2023 by the authors.
PY - 2023/8
Y1 - 2023/8
N2 - Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, patient questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied at baseline, 3 and 6-months post successful sapropterin-responsiveness testing (defined as a 30% reduction in blood phenylalanine levels). Results: 17 children (10.8 ± 4.2 years) completed 6-months follow-up. Patients body mass index (BMI) z-scores remained unchanged after sapropterin initiation. Blood phenylalanine was stable. Natural protein increased (p < 0.001) and protein substitute intake decreased (p = 0.002). There were increases in regular cow’s milk (p = 0.001), meat/fish, eggs (p = 0.005), bread (p = 0.01) and pasta (p = 0.011) intakes but special low-protein foods intake decreased. Anxiety (p = 0.016) and depression (p = 0.022) decreased in caregivers. The impact-on-family, familial-social impact (p = 0.002) and personal strain (p = 0.001) lessened. After sapropterin, caregivers spent less time on PKU tasks, the majority ate meals outside the home more regularly and fewer caregivers had to deny food choices to their children. Conclusion: There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment.
AB - Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, patient questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied at baseline, 3 and 6-months post successful sapropterin-responsiveness testing (defined as a 30% reduction in blood phenylalanine levels). Results: 17 children (10.8 ± 4.2 years) completed 6-months follow-up. Patients body mass index (BMI) z-scores remained unchanged after sapropterin initiation. Blood phenylalanine was stable. Natural protein increased (p < 0.001) and protein substitute intake decreased (p = 0.002). There were increases in regular cow’s milk (p = 0.001), meat/fish, eggs (p = 0.005), bread (p = 0.01) and pasta (p = 0.011) intakes but special low-protein foods intake decreased. Anxiety (p = 0.016) and depression (p = 0.022) decreased in caregivers. The impact-on-family, familial-social impact (p = 0.002) and personal strain (p = 0.001) lessened. After sapropterin, caregivers spent less time on PKU tasks, the majority ate meals outside the home more regularly and fewer caregivers had to deny food choices to their children. Conclusion: There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment.
KW - burden of care
KW - food literacy
KW - food patterns
KW - phenylketonuria
KW - sapropterin
UR - http://www.scopus.com/inward/record.url?scp=85168748316&partnerID=8YFLogxK
U2 - 10.3390/nu15163603
DO - 10.3390/nu15163603
M3 - Article
C2 - 37630793
AN - SCOPUS:85168748316
SN - 1422-8599
VL - 15
JO - Nutrients
JF - Nutrients
IS - 16
M1 - 3603
ER -
