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ETHEREAL: Epigenetic-genetic-mental health cascade based personalised prevention of non-communicable disease in adolescents diagnosed with autism

Ireland, Romania, United Kingdom

Project contact

Background

Five Noncommunicable Diseases (NCD) – diabetes, cardiovascular disease, cancer, chronic respiratory disease and Mental Health Disorders (MHD) – account for 86% deaths and 77% disease burden in the WHO Europe region. Of these five NCDs, MHD is unique as it has a complex bi-directional relationship with the other four major NCDs, meaning that, on one hand, it could be the initiator of the other NCDs, or other NCDs could lead to MHD which, in turn, can further aggravate the primary NCD leading to a vicious circle. Recent research identified MHD as the highest ranked NCD in adolescent population. A specific group in this population that is 3 – 6 times more vulnerable for developing MHD and subsequent NCD is the adolescents diagnosed with Autism Spectrum Disorders (ASD).

Autism spectrum disorder (ASD) is a neurological condition that affects how people interact with others, communicate, learn and behave. Individuals with ASD are more vulnerable to developing mental health disorders and other non-communicable diseases, necessitating the development of evidence-based interventions.

Aims

The consortium aim to develop a quantitative modelling approach that integrates epigenetic, genetic and metabolic data. This personalised service will offer evidence-based guidance on how to control environmental factors that may impact the mental health of individuals with ASD.

Project plan

Recent research showed how the environmental factors can alter gene expressions that leads to an MHD through Epigenetic-Genetic/metabolomic-Mental health (EGM) process. Using quantitative modelling of this process, ETHREAL will develop a personalised, flexible, single service delivery model that will empower an ASD adolescent to self-control their environmental factors while seamlessly accessing the community care services to prevent their mental health making transition to an MHD – a unique solution for sustainable prevention of MHD and subsequent NCDs in this population. Without loss of generality, the proposed solution could be adapted to prevent MHD in wider adolescent population.

  1. Identification of the environmental factors in the PNE of an adolescent with ASD which instigate transition of their already vulnerable “mental health” to MHD (Model 1).

  2. Quantitative modelling of the EGM process chain in adolescents with a formal diagnosis of ASD for designing control strategies based on their PNE, historical and current states (Model 2).

  3. Integration of the Models 1 and 2 in the form of a Personalized Digital Nurse (PDN) mobile app, that will empower adolescents with ASD to self-control the epigenetic influence of the factors present in their PNE.

  4. Integration of the Personalised Digital Nurse (PDN) with their PNE and the community care services and evaluation of the complete system informing the design of a personalized service delivery model (Model 3) based on Implementation Science (IS) principles for rapid uptake.

Publications and output

You may visit the project website for more information.

Principal investigators

  • Geraldine Boylan INFANT Research Centre, Ireland

  • Koushik Maharatna University of Southampton, United Kingdom

  • Mihai Berteanu Spitalul Universitar de Urgență Elias, Romania

Team members

  • Ileana Ciobanu Carol Davila University of Medicine and Pharmacy, Romania

  • Jean Conway INFANT Research Centre, Ireland

Funding organisations

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