The project topic focuses on autism spectrum disorders (ASDs), complex neurodevelopmental conditions associated with life-long problems, representing important social and population health burden; furthermore, a dramatic increase of ASDs prevalence was observed in the last years, reaching estimates of one in 59 individuals.
Project title: Improving quality of life for Autism Spectrum Disorders patients by promoting strategies for early diagnosis and preventive measures.
Project Code: EEA-RO-NO-2018-0573
Project Acronym: IQUALASD
ASDs have been at the forefront of basic and clinical research worldwide. Although a great amount of information has been accumulating at a very high speed, ASDs still pose particular challenges for healthcare professionals. The current project is a translational approach, from clinical characteristics, neurobiological and genetic mechanisms to clinical populations, carried out in collaboration between Obregia Hospital of Psychiatry (OHP), Victor Babes National Institute of Pathology (IVB) and University of Oslo and Oslo University Hospital (OU) with strong expertise in their field of activity. The complex evaluation of a big cohort of patients with ASDs will contribute to the establishment of the Romanian Registry for ASD, and will offer data for estimation of ASDs prevalence in Romania, for improving the early diagnosis and for a better understanding of ASDs mechanisms. In addition, by transferring knowledge toward the Romanian partner and by jointly investigating a Romanian patient cohort, the high demand for genomic testing of ASD patients in Romania will be met. A foundation of a long-term partnership between Romania and Norway, in the field of the most common psychiatric conditions, is thus created. The project is highly relevant for the objectives and priorities of the call, falling into Health thematic area, key topic “Improving public health by implementing evidence-based preventive strategies”. The present proposal will allow Romanian teams to enhance their expertise and research capability, to train an increased number of young researchers in an environment of scientific excellence, to enhance their visibility through publication and to actively participate in further EU framework programme calls and other international funding sources.
Project scope: Knowledge development for preventive medical and social strategies aimed at improving quality of life for children, teens and young adults with ASD.
Project objectives: improvement of early recognition and clinical diagnosis of ASD; development and implementation of a comprehensive protocol for genetic testing and biomedical imaging; devising recommendations for patient-centered intervention plans; providing research-based knowledge for development of social/school/professional integration programs; initiating the establishment the Romanian National Registry for ASDs.
Expected results: implemented protocols for early clinical recognition of ASDs; optimized protocols for genetic characterization of ASDs patients; systematic characterization of brain structural characteristics by MRI; patient tailored intervention plans to be disseminated in the medical community; Romanian National ASDs Registry database
The project is structured on:
- Clinical methodologies: complete clinical, neurological, psychiatric and psychologic evaluation, autism-specific tools, cognitive evaluation scales.
- Bioimaging tools: brain MRI.
- Genetics technologies: PCR-based assays, multiplex ligation-dependent amplification (MLPA), array-based comparative genomic hybridization (array-CGH), next generation sequencing (NGS).
- Bioinformatics / statistics tools for big data analytics.
- Specific methods for patient-centered intervention planning: behavioural therapies, logopedy, ergotherapy, kinetotherapy combined with prevention and monitoring of complications specifically associated with ASDs genetic causes.
Various dissemination methods will target the medical and academic community, the general public, as well as health care and education authorities, in order to share the projects results and increase the awareness regarding ASDs.
This project was financed with funds from the EEA Grants Research Programme 2014 – 2021 and is managed together with UEFSCDI.