European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.

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 participants' 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. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. ETHICS AND DISSEMINATION: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).

Role of Late DMSA Renal Scan in Detecting High-Grade Vesicoureteral Reflux.

OBJECTIVE: To determine the performance of late dimercaptosuccinic acid (DMSA) renal scans in identifying high-grade (III-V) vesicoureteral reflux (VUR) in children aged over 3 y with a febrile urinary tract infection (fUTI) history that has not been timely investigated. METHODS: In this retrospective study of diagnostic accuracy, the clinical records of children aged between 3 and 18 y with fUTI history evaluated consecutively at Nephrology Unit of Hospital General de Niños Pedro de Elizalde, Argentina between 2006 and 2016 were reviewed. Patients with previously diagnosed renal or urinary tract abnormalities or who underwent previous postnatal genitourinary imaging were excluded. Only those assessed by renal and bladder ultrasound (RBUS), voiding cystourethrogram (VCUG) and late 6-mo DMSA scan were analyzed. The ability of the scintigraphy in identifying high-grade VUR was determined by comparing its findings with those of VCUG. RESULTS: In 122 children (median age 5.37 y, 88.5% girls) RBUS was abnormal in 53 (43.4%) and 58 (47.5%) had VUR (30 of high-grade). Abnormal DMSA scan findings (70 patients, 57.4%) were associated with all grade (p = 0.00001) and with high-grade VUR (p = 0.00001). Sensitivity, specificity, negative (NPV) and positive (PPV) predictive values of late DMSA scans for all grades VUR were 93.1%, 75%, 92.3% and 77.1%, respectively. Only 4 patients with low-grade VUR had normal scans. For high-grade VUR, sensitivity and NPV reached 100%. CONCLUSIONS: In older children, the normal late DMSA scan predicted the absence of high-grade VUR, obviating the need for a VCUG. This approach could be a possible strategy for children not studied at acute infection time.