The A-FFIP cohort
Despite the strong genetic background associated with Autism Spectrum Disorders (ASD), with common variation showing a significant correlation with dimensional autism specific symptoms , no study to date has explored the role of common genetic variation on longitudinal outcome in ASD and its moderation by early, naturally developmental behavioural intervention (NDBI). NDBI approaches, such as the ASD-specific Frankfurt Early Intervention Programme for ASD (A-FFIP), are based on ASD-specific developmental and learning aspects and represent a low-intensity intervention which can easily be implemented in the healthcare systems. The aim of the A-FFIP study is to establish one-year efficacy of the manualised early intervention programme A-FFIP in toddlers and preschool children with ASD. Given the strong phenotypic overlap of preference for solitude with autism specific core symptoms and the correlation of polygenic risk with these symptoms, it is expected that polygenic risk also correlates with the one-year outcome of ASD in toddlers and preschool aged children. In addition, the study aims at exploring whether intervention can moderate the effects of the polygenic variation on different, clinical and patient related outcomes.

Lead organization: Goethe University Frankfurt

Principal Investigator: Prof. Christine M. Freitag

The BSL DNA cohort
The Bavarian Longitudinal Study (BLS) started off as a geographic whole population study of infants, who were born between January 1985 and March 1986 and admitted to neonatal special care in South Bavaria (Germany) within the first 10 days of life. The study’s initial (Phase I, 1984-1990) aims were: 1) to document the prevalence of somatic and psychosocial outcomes of neonatal morbidity and early delivery in an unselected population of children in Germany; and b) to evaluate the impact of a regionalised neonatal service to the locally organised service provisions in Germany. The study continued with a Phase 2 (1990-1997) to allow a more intensive investigation of the impact of biological and social risk on cognitive, social and behavioral development. Finally, two follow-up assessments were performed in adolescence and adulthood.

Lead organization: University of Warwick

Principal Investigator: Prof. Dieter Wolke

The dHCP cohort
The Developing Human Connectome Project (dHCP) created the first 4-dimensional connectome of early life creating a dynamic map of human brain connectivity from 20 to 44 weeks post-conceptional age, which linked together imaging, clinical, behavioural, and genetic information. In the context of R2D2-MH, dHCP will provide and augment the dHCP dataset with collection of new data on MH, resilience, social competence and emotion regulation in 400 dHCP children at 5-6 years, in order to address the following questions: 1) how genetic and environmental risk and protective resilience factors impact MH outcomes throughout the life course; 2) how the neurobiological signatures of early risk and resilience factors on the new-born brain impact MH outcomes; 3) whether there are specific neurodevelopmental signatures that can help identifying those children who are most vulnerable to MH conditions, in order to develop preventative interventions. The proposed study will identify the neurodevelopmental impact of genetic and non-genetic risk and protective resilience factors on the new-born brain, from birth to age five.

Lead organization: King’s College London

Principal Investigator: Prof. David Edwards

The Geneva Autism cohort
The Geneva Autism Cohort has been designed to understand the neurodevelopmental trajectories of children with ASD in the years following their diagnosis and examine predictors of response to treatment, by using a longitudinal design combined with an extensive phenotyping strategy. It is an observational study that includes: 1) children with ASD (under the intensive intervention Early Start Denver Model or under community available treatment), 2) infants at increased likelihood of ASD, recruited among the younger sibling of a child with a confirmed diagnosis of ASD, and 3) a control group of typically developing age-matched and sex-matched children. The Geneva Autism cohort represents a unique sample of group of children receiving homogeneous, scientifically-validated and intensive intervention that is extensively assessed using gold-standard clinical and neuroscience tools.

Lead organization: University of Geneva

Principal Investigator: Prof. Marie Schaer

The PPI App cohort
The Positive psychological interventions (PPI) App cohort aims to understand the effectiveness of a positive psychology self-help app for parents of children with neurodevelopmental diversities (NDDs) to improve their resilience and mental well-being. Studies have shown that parents of children with NDD present higher levels of stress compared to parents of typically developing children with impact their capacity to manage the education of their child, the quality of life of the family and on the children. Consequently, the psychological and social impact on families must be a primary focus of researchers and clinicians working with families of children with NDDs. PPIs aim at promoting positive characteristics that enhance adaptive responses to adversity and mental well-being. PPIs target various mechanisms of change such as positive emotions, optimism, self-compassion and positive relationships. The aim is to adapt a PPI intervention for parents of children with a NDD by providing it on through application for smartphones and tablets, based on our previous expertise in delivering PPI on an online platform. This will be done in conjunction with a SME that has extensive expertise in app design and development for mental Health, LearnEnjoy.

Lead organization: University of Twente

Principal Investigator: Prof. Ernst Bohlmeijer

The RaDiaNT cohort
The Relative Diversity associated with Neurexin Trajectories (RaDiaNT) cohort aims to study the genetic heterogeneity contributing to variable cognitive, language, social, and mental health outcomes in NRXN1 deletion carriers, given that NRXN1 is a gene that is important for brain and synaptic development. The main objectives of the RaDiaNT cohort are: 1) Establish a large cohort of NRXN1 deletion carriers and their family members; 2) Establish the prevalence of a range of NDDs outcomes and traits in NRXN1 deletion carriers; 3) Characterize the NRXN1 deletions in the cohort based on whole genome sequencing and define measure of burden related to size and number of exons deleted; 4) Investigate the role of polygenic and rare variant burden in influencing good or poor clinical outcomes of NRXN1 deletion carriers within families and in comparison to typically developing control individuals. The RaDiaNT cohort will have access to unique combined samples of NRXN1 deletion carriers recruited at Trinity College Dublin and will investigate genetic heterogeneity and risk and resilience outcomes using a harmonised phenotypic approach.

Lead organizations: Trinity College Dublin, Murdoch Children’s Research Institute

Principal Investigators: Prof. Louise Gallagher, Prof. Angela Morgan