Dup15q Alliance

The accessibility of Therapeutic Patient Education (TPE) is essential to reduce social inequalities and to meet the challenges posed by the increase in chronic diseases. In France, the distribution of TPE throughout the territory is heterogeneous and patients still lack sufficient access. With these perspectives in mind, a municipal health center has developed an innovative TPE device by involving concerned patients from the outset. The objectives of this article are to present the methodology implemented to co-construct a TPE program for patients with one or more prevalent diseases in the territory, as well as the results of the co-construction. Creation of a project team with various actors: patients, health professionals, administrators, researchers. Organization of synchronous and asynchronous times. Four meetings and numerous exchanges made it possible to: define the common values and operating rules of the project team, reflect on the coordination of the care pathway, identify the specific and shared needs of patients affected by type 2 diabetes, arterial hypertension and/or obesity, agree on the principles of the device. The advantages of this device were discussed: flexible organization with numerous links with local actors, development of partnerships, expansion of the population concerned. Questions and difficulties were encountered, such as the coordination of actors and the representation of partner patients for the targeted diseases. This device will be tested and evaluated, mainly with an objective of improving it.

ObjectiveThe objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]).MethodsData about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences.ResultsThe median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications.ConclusionUnderstanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions.

Introduction: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical, and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and genetic profiles. Methods and analysis: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1,500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will give a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent for the study to access pre-existing clinical data. Participants will be added to the EAGER registry. Data will be shared via the Autism Sharing Initiative, a new international collaboration aiming to create a federated system for autism data sharing. Ethics and dissemination: EAGER has received full ethical approval from ethics committees in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023) and Spain (HCB/2023/0038, PIC-164-22). Approvals are in the process of being obtained from committees in Italy, Sweden, Ireland, and France. Findings will be disseminated via scientific publications and conferences, but also beyond to participants and the wider community (e.g., the AIMS-2-TRIALS website, stakeholder meetings, newsletters).