RT Journal Article
T1 Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
A1 Burton, Barbara K.
A1 Hermida Ameijeiras, Álvaro
A1 Bélanger Quintana, Amaya
A1 Bell, Heather
A1 Bjoraker, Kendra J.
A1 Christ, Shawn E.
A1 Grant, Mitzie L.
A1 Harding, Cary O.
A1 Huijbregts, Stephan C.J.
A1 Longo, Nicola
A1 McNutt II, Markey C.
A1 Nguyen Driver, Mina D.
A1 Pessoa, André L. Santos
A1 Rocha, Júlio César
A1 Sacharow, Stephanie
A1 Sánchez Valle, Amarilis
A1 Sivri, H. Serap
A1 Vockley, Jerry
A1 Walterfang, Mark
A1 Whittle, Sarah
A1 Muntau, Ania C.
K1 Phenylketonuria
K1 PKU
K1 Adolescent
K1 Young adult
K1 Modified Delphi
K1 Consensus recommendations
AB BackgroundEarly treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited.MethodsTwo meetings were held with a multidisciplinary international panel of 25 experts in PKU and comorbidities frequently experienced by patients with PKU. Based on the outcomes of the first meeting, a set of statements were developed. During the second meeting, these statements were voted on for consensus generation (≥70% agreement), using a modified Delphi approach.ResultsA total of 37 consensus recommendations were developed across five areas that were deemed important in the management of adolescents and young adults with PKU: (1) general physical health, (2) mental health and neurocognitive functioning, (3) blood Phe target range, (4) PKU-specific challenges, and (5) transition to adult care. The consensus recommendations reflect the personal opinions and experiences from the participating experts supported with evidence when available. Overall, clinicians managing adolescents and young adults with PKU should be aware of the wide variety of PKU-associated comorbidities, initiating screening at an early age. In addition, management of adolescents/young adults should be a joint effort between the patient, clinical center, and parents/caregivers supporting adolescents with gradually gaining independent control of their disease during the transition to adulthood.ConclusionsA multidisciplinary international group of experts used a modified Delphi approach to develop a set of consensus recommendations with the aim of providing guidance and offering tools to clinics to aid with supporting adolescents and young adults with PKU
PB Elsevier
SN 1096-7192
YR 2022
FD 2022-07-29
LK https://hdl.handle.net/10347/38865
UL https://hdl.handle.net/10347/38865
LA eng
NO Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau, Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach, Molecular Genetics and Metabolism, Volume 137, Issues 1–2, 2022, Pages 114-126, ISSN 1096-7192, https://doi.org/10.1016/j.ymgme.2022.07.012
DS Minerva
RD 28 abr 2026