Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

Pérez‐López, Jordi; Ceberio-Hualde, Leticia; García-Morillo, Salvador; Grau-Junyent, Josep María; Ameijeiras, A. Hermida; López-Rodríguez, M.; Morales-Conejo, Montserrat; Mateos, Juan José Nava; Azuara, Luis José Aldámiz Echevarri; Campistol, Jaume; Couce, María L.; García‐Silva, María Teresa; Gutiérrez-Solana, Luis González; Toro, Mireia del

doi:10.1016/j.medcli.2016.09.018

Cited by 7 publications

(4 citation statements)

References 24 publications

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“…Most transition guidelines suggest that the process should begin when the patient is 13 or at most 14 years old [ 54 ], so that they can familiarize themselves with the adult unit prior to transfer and improve their readiness for it. In the consensus paper by Pérez-Lopez et al in patients with inborn errors of metabolism, the authors concluded that the transition should be made at the age of 16–18 years, when the disease is in a stable phase, while taking into account the patient's level of development [ 55 ].…”

Section: Discussionmentioning

confidence: 99%

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

Casado,

Gómez-Alonso,

Pintos-Morell

et al. 2023

Orphanet J Rare Dis

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Background There are currently no models for the transition of patients with metabolic bone diseases (MBDs) from paediatric to adult care. The aim of this project was to analyse information on the experience of physicians in the transition of these patients in Spain, and to draw up consensus recommendations with the specialists involved in their treatment and follow-up. Methods The project was carried out by a group of experts in MBDs and included a systematic review of the literature for the identification of critical points in the transition process. This was used to develop a questionnaire with a total of 48 questions that would determine the degree of consensus on: (a) the rationale for a transition programme and the optimal time for the patient to start the transition process; (b) transition models and plans; (c) the information that should be specified in the transition plan; and (d) the documentation to be created and the training required. Recommendations and a practical algorithm were developed using the findings. The project was endorsed by eight scientific societies. Results A total of 86 physicians from 53 Spanish hospitals participated. Consensus was reached on 45 of the 48 statements. There was no agreement that the age of 12 years was an appropriate and feasible point at which to initiate the transition in patients with MBD, nor that a gradual transition model could reasonably be implemented in their own hospital. According to the participants, the main barriers for successful transition in Spain today are lack of resources and lack of coordination between paediatric and adult units. Conclusions The TEAM Project gives an overview of the transition of paediatric MBD patients to adult care in Spain and provides practical recommendations for its implementation.

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Section: Discussionmentioning

confidence: 99%

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

Casado,

Gómez-Alonso,

Pintos-Morell

et al. 2023

Orphanet J Rare Dis

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“…59 Table 3 is an example of a transition program for patients with inborn errors of metabolism. 60,61 The Sociedad Argentina de Pediatría prepared a • Most pediatric patients with chronic conditions may achieve independence and autonomy milestones (...)…”

Section: Reaction Fulfills Anaphylaxis Criteria Without Concomitant Viral Conditionsmentioning

confidence: 99%

“…document about the transition process, including a diagnosis of the situation in Argentina, barriers and facilitators to this process (Table 4). 61 n…”

Section: -18mentioning

confidence: 99%

A few challenges in mucopolysaccharidosis type I

2021

Arch Argent Pediat

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“…Furthermore, the prognosis of this type of disease has been improving over the years due to the implementation of neonatal screening that allows some subtypes to be detected early, in addition to advances in their diagnosis and treatment. Currently, there is an increasing number of patients with IEMs who reach adulthood [3]. However, some IEMs can begin in adulthood, either with slowly progressive onset disorders, such as lysosomal diseases, or with episodes of acute decompensation, characteristic of acute porphyria attacks or urea cycle disorders [4].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

et al. 2021

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Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

Cited by 7 publications

References 24 publications

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

A few challenges in mucopolysaccharidosis type I

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

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