TY - JOUR
T1 - Management of early treated adolescents and young adults with phenylketonuria
T2 - Development of international consensus recommendations using a modified Delphi approach
AU - Burton, Barbara K.
AU - Hermida, Álvaro
AU - Bélanger-Quintana, Amaya
AU - Bell, Heather
AU - Bjoraker, Kendra J.
AU - Christ, Shawn E.
AU - Grant, Mitzie L.
AU - Harding, Cary O.
AU - Huijbregts, Stephan C.J.
AU - Longo, Nicola
AU - McNutt, Markey C.
AU - Nguyen-Driver, Mina D.
AU - Santos Pessoa, André L.
AU - Rocha, Júlio César
AU - Sacharow, Stephanie
AU - Sanchez-Valle, Amarilis
AU - Sivri, H. Serap
AU - Vockley, Jerry
AU - Walterfang, Mark
AU - Whittle, Sarah
AU - Muntau, Ania C.
N1 - Publisher Copyright:
© 2022 The Authors
PY - 2022/9/1
Y1 - 2022/9/1
N2 - Background: Early 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. Methods: Two 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. Results: A 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. Conclusions: A 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.
AB - Background: Early 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. Methods: Two 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. Results: A 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. Conclusions: A 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.
KW - Adolescent
KW - Consensus recommendations
KW - Modified Delphi
KW - PKU
KW - Phenylketonuria
KW - Young adult
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U2 - 10.1016/j.ymgme.2022.07.012
DO - 10.1016/j.ymgme.2022.07.012
M3 - Article
C2 - 36027720
AN - SCOPUS:85136251748
SN - 1096-7192
VL - 137
SP - 114
EP - 126
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1-2
ER -