Cohorts and clinical studies

One of the objectives of R2D2-MH is to develop tools to help healthcare givers predict the life trajectories of neurodivergent people they see in their daily practice to provid the best support possible.

The development of such tools is possible by analysing large amounts of data collected from neurodivergent individuals that have participated in clinical studies. Often, these studies follow individuals and collect data throughout their lives. This is called a longitudinal study.

R2D2-MH will built on its network to access data from several large European and international clinical studies and better understand risks and resilience factors involved in different life trajectories of neurodivergent people.

With this the project aims to deliver digital tools that psychologists and healthcare givers will be able to use in their daily practice to better support neurodivergent people and their families.

What is a longitudinal study? What types of data are collected in clinical programs? Why is data analysis important ?

The ASD-specific Frankfurt Early Intervention Programme (A-FFIP) cohort

  • Autism can be associated with genetic background, with common genetic variations correlating with some autistic characteristics.
  • However, no study to date has explored the role of common genetic variation on outcomes in autism and its moderation by early, naturally developmental behavioural intervention (NDBI).
  • NDBI approaches, such as A-FFIP, are based on autism-specific developmental and learning aspects. NDBI represent a low-intensity appraoch which can easily be implemented in the healthcare systems.

The aim of the A-FFIP study is to establish one-year efficacy of the A-FFIP program in autistic toddlers and preschool children. In addition, the study aims at exploring whether support can moderate the effects of the variation on the outcomes.

Lead organization: Goethe University Frankfurt

Principal Investigator: Prof. Christine M. Freitag

The Bavarian Longitudinal Study (BSL) cohort

  • The BLS started as a 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 (1984-1990) aimed to document the prevalence of somatic and psychosocial outcomes. It also aimed 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 investigate more the impact of biological and social risk on cognitive, social and behavioral development.
  • Two follow-up assessments were performed in adolescence and adulthood.

Lead organization: University of Warwick

Principal Investigator: Prof. Dieter Wolke

The Developing Human Connectome Project (dHCP) cohort

  • The dHCP created the first dynamic map of human brain connectivity from 20 to 44 weeks post-conceptional age
  • The map compiled 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 mental health, resilience, social competence and emotion regulation in 400 dHCP children at 5-6 years.

The aim is to 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 autism under interventions
  • It also examines predictors of response to intervention.
  • It is an observational study that includes: 1) autistic children, 2) infants at increased likelihood of autism, and 3) a group of typically developing children (same age and sexe)

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 Positive psychological interventions (PPI) App cohort

  • The PPI App cohort aims to understand the effectiveness of a positive psychology self-help app for parents of neurodivergent children to improve their resilience and mental well-being.
  • Studies have shown that parents of neurodivergent children present higher levels of stress compared to parents of typically developing children.
  • this can impact their capacity to manage the education of their child, the quality of life of the family and 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.
  • The Positive Psychology Intervention aim at promoting positive characteristics that enhance adaptive responses to adversity and mental well-being.
  • Positive Psychology Interventions target various mechanisms of change such as positive emotions, optimism, self-compassion and positive relationships.

In R2D2-MH, the aim is to adapt Positive Psychology Interventions for parents of children with a NDD by providing it through an app for smartphones and tablets.

Lead organization: University of Twente

Principal Investigator: Prof. Ernst Bohlmeijer

The Relative Diversity associated with Neurexin Trajectories (RaDiaNT) cohort

  • NRXN1 is a gene that is important for brain development 
  • The RaDiaNT cohort aims to study the genetic behind various cognitive, language, social, and mental health outcomes oberved in people carrying a mutation in the NRXN1 gene.

The main objectives of the RaDiaNT cohort are to: 

  • Establish a large cohort of individulas carrying NRXN1 deletion and their family members;
  • Establish the prevalence of a range of NDDs outcomes and traits in NRXN1 deletion carriers;
  • Characterize the NRXN1 deletions in the cohort based on analysis of the genome;
  • Investigate the role of polygenic and rare variant in influencing various 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