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Fig. 1 | Molecular Autism

Fig. 1

From: The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders

Fig. 1

LEAP recruitment and assessment procedures. a Participants are concurrently recruited and assessed at seven European study sites: the Institute of Psychiatry, Psychology and Neuroscience, King’s College London, United Kingdom Autism Research Centre at the University of Cambridge, United Kingdom, Radboud University Nijmegen Medical Centre, University Medical Centre Utrecht, the Netherlands, Central Institute of Mental Health, Mannheim, Germany, and the University Campus Bio-Medico, Rome, Italy. Twins are predominantly recruited from the Roots of Autism and ADHD Twin Study in Sweden (RATSS) at Karolinska Institute, Stockholm, Sweden [17]. At each study site, participants with ASD and mild ID are recruited from existing local databases, clinic contacts, and local and national support groups. TD participants are recruited via mainstream schools, flyers (e.g. left at youth centres, colleges, churches, etc.), and existing databases. Participants (or parents) who express interest are sent an information sheet and then screened over the phone for eligibility. If inclusion criteria are confirmed, written consent is obtained and the participant is assigned to a study schedule based on their age and ability level. b Parents (as well as adolescents and adults without ID) are sent login details to an online questionnaire (Delosis Ltd., London) to complete at home. c and d The participant and a parent visit the study centre on two separate occasions within 4 weeks. For participants who travel from far, visits take place on two consecutive days with an overnight stay at a local hotel arranged by the research team. Clinical assessments and interviews are conducted with the participant (e.g. ADOS-2) and a parent (ADI-R, Vineland, Family History Interview). If parents stay with their child during his/her assessments, these interviews are later conducted over the phone. Most cognitive tests are administered using the computerised platform Psytools (Delosis, London Ltd.); some are paper-pencil tests. Eye-tracking is acquired using Tobii-Eye-trackers with a standard acquisition rate of 120 Hz. Tasks are presented interleaved to minimise attentional requirements. Each participant completes a 60–90-min MRI scan session to acquire structural and DTI scans, a resting-state functional MRI scan, and (depending on schedule) one to four task-related fMRI scans. During a training session before the scan, they are instructed to keep still, familiarised with the scanner noise, trained in the functional tasks, and, where possible, are given the opportunity to lie in a mock scanner. During the structural scans, participants watch videos from a video library or DVD brought from home, to make the scan experience more enjoyable. The EEG session tests functional activation during face processing, social and non-social processing, an auditory oddball paradigm (MMN), and resting state. Blood, urine, and saliva samples are taken from the participant and, where possible, both parents for biochemical and genomic analyses. Hair samples are taken to derive induced pluripotent stem cells from selected participants

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