Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

Inherited metabolic diseases (IMD) form a heterogeneous group of genetic disorders that surface primarily during childhood and result in significant morbidity and mortality. A prevalence of 1 in 2500-5000 live births is often reported. The transfer of adolescents from pediatric care to adult health facilities is often difficult for patients and their families and can lead to a breakdown in medical follow-up and therefore serious complications. Existing recommendations for the successful transition of patients with chronic disorders do not specifically address patients with IMDs associated with dietary treatment. Here, the French network for rare inherited metabolic diseases (G2M) presents its reflections and recommendations for a successful transition. Preparations for the transfer must be made well in advance. The transfer must aim for adolescents gaining autonomy by making them responsible and providing them with the knowledge that will enable them to manage their care themselves, know how to react appropriately if there is any change in their condition, and move comfortably within the adult healthcare system. This requires the active participation of the patient, his or her family, and pediatric and adult care teams. It involves multidisciplinary management plus the production and maintenance of an educational therapy program. Finally, the identification of physicians and dietitians trained in IMDs, relevant subspecialists, and even expert patients could improve the continuum of complete and appropriate care for these patients within adult medicine.

Chabrol B ，Jacquin P ，Francois L ，Broué P ，Dobbelaere D ，Douillard C ，Dubois S ，Feillet F ，Perrier A ，Fouilhoux A ，Labarthe F ，Lamireau D ，Mazodier K ，Maillot F ，Mochel F ，Schiff M ，Belmatoug N ... -  《-》

Transition from paediatric to adult care in adolescents with neurological diseases and handicap.

The transfer of adolescents from paediatric care to adult health facilities is often difficult for the patients and their families and can lead to a breakdown in medical follow-up and therefore serious complications. Existing recommendations for the successful transition of patients with chronic disorders do not specifically address patients with handicap. Preparations for the transfer must be made well in advance. They must aim to achieve the autonomisation of adolescents by making them responsible and providing them with the knowledge that will enable them to manage their care themselves, the know-how to react appropriately if there is any change in their condition, and to move comfortably within the adult health system. This requires the active participation of the patient, his or her family and the paediatric and adult care teams. It involves multidisciplinary management plus the production and maintenance of an educational therapy programme. Finally, the identification of doctors trained in handicap, relevant sub-specialists and even expert patients could enable improvements in the continuum of complete and appropriate care for these patients within adult medicine.

Chabrol B ，Milh M 《REVUE NEUROLOGIQUE》

[Transition from pediatric to adult care: Recommendations of the French network for autoimmune and autoinflammatory diseases (FAI(2)R)].

Autoimmune and autoinflammatory diseases (AIDs) are a heterogeneous group of diseases. They can occur in childhood and account for significant morbidity and mortality. Transitioning from pediatric to adult healthcare can be difficult for patients and their families. It can interfere with patient follow-up and management, and eventually lead to complications. Although recommendations exist for the successful transition of patients with chronic diseases, few are specifically adapted to children and adults with AIDs (Suris et al., 2015-Solau-Gervais, 2012). The French working group on transition of the rare autoimmune and autoinflammatory diseases presents its reflections and recommendations for a successful transition. Preparation for transition should start early. Its goals are to empower adolescents by providing them with the knowledge to manage their own care, respond appropriately to changes in their condition, and evolve within the adult healthcare system. This requires the active participation of the patient, his or her family, as well as the pediatric and adult medical teams. The transition process involves multidisciplinary care and dedicated therapeutic education programs. Finally, the identification of medical specialists by region, trained in rare AIDs and accompanied by expert patients, may improve the management of patients with rare AIDs from adolescence to adulthood.

Georgin-Lavialle S ，Hentgen V ，Truchetet ME ，Romier M ，Hérasse M ，Maillard H ，Pha M ，Pillet P ，Reumaux H ，Duquesne A ，Larbre JP ，Belot A ... -  《-》

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Bouchereau J ，Wicker C ，Mention K ，Marbach C ，Do Cao J ，Berat CM ，Jaroussie M ，Cano A ，Gorce M ，Garros A ，Kuster A ，Hoebeke C ，Mayer C ，Brassier A ，Gouya L ，Schrimpf C ，Arnoux JB ，Schiff M ，Acquaviva-Bourdain C ，Benoist JF ，Courapied S ，Broué P ，Oualha M ，Douillard C ，de Lonlay P ... -  《-》

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.

Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. This has created a new challenge: as they grow up, the care of IMD patients' needs to be transferred from metabolic pediatricians to metabolic physicians specialized in treating adults, through a process called "transition." The purpose of this study was to assess how this transition is managed in Europe: a survey was sent to all 77 centers of the European Reference Network for Hereditary Metabolic Disorders (MetabERN) to collect information and to identify unmet needs regarding the transition process. Data was collected from 63/77 (81%) healthcare providers (HCPs) from 20 EU countries. Responders were mostly metabolic pediatricians; of these, only ~40% have received appropriate training in health issues of adolescent metabolic patients. In most centers (~67%) there is no designated transition coordinator. About 50% of centers provide a written individualized transition protocol, which is standardized in just ~20% of cases. In 77% of centers, pediatricians share a medical summary, transition letter and emergency plan with the adult team and the patient. According to our responders, 11% of patients remain under pediatric care throughout their life. The main challenges identified by HCPs in managing transition are lack of time and shortage of adult metabolic physician positions, while the implementations that are most required for a successful transition include: medical staff dedicated to transition, a transition coordinator, and specific metabolic training for adult physicians. Our study shows that the transition process of IMD patients in Europe is far from standardized and in most cases is inadequate or non-existent. A transition coordinator to facilitate collaboration between the pediatric and adult healthcare teams should be central to any transition program. Standardized operating procedures, together with adequate financial resources and specific training for adult physicians focused on IMDs are the key aspects that must be improved in the rare metabolic field to establish successful transition processes in Europe.

Stepien KM ，Kieć-Wilk B ，Lampe C ，Tangeraas T ，Cefalo G ，Belmatoug N ，Francisco R ，Del Toro M ，Wagner L ，Lauridsen AG ，Sestini S ，Weinhold N ，Hahn A ，Montanari C ，Rovelli V ，Bellettato CM ，Paneghetti L ，van Lingen C ，Scarpa M ... -  《Frontiers in Medicine》