Results – EEA Grant Autism

The most significant achievements of this project are the initiation of a National Registry for patients with ASD and the increased awareness among the medical specialists and parents of children with neurodevelopmental problems regarding early detection and management of specific challenges.

All the expected results of our project were achieved, as follows:

Implemented protocols for early clinical recognition of ASDs.
Optimized protocols for identification of genetic causes of known syndromic ASDs and for characterization of genomic and sequence variants relevant for ASDs.
Systematic characterization of brain structural characteristics by MRI.
Patient tailored intervention plans to be disseminated in the medical community.
Romanian National ASDs Registry – database configuration and data recording.

We will continue the dissemination of the results of our project into the scientific community, aiming to further increase the societal awareness and the engagement between the project teams and medical community, patient organizations, Ministry of Health, Public Health Departments and the general public. The results dissemination activities is oriented mainly towards:

scientific communication: we will continue to publish the scientific results of the project in international journals with open access, and to present the project results at national and international meetings, and to share them through European / international networks / databases (e.g. open access to data, repositories such as DECIPHER and LOVD database, COST actions etc). In addition, the results will be further disseminated to the scientific and medical community through seminars and workshops for pediatricians, primary caregivers and other persons involved in diagnosis and treatment of this conditions.
knowledge promotion to the patients associations/families/general public ; we will continue to present the project results and other information related to ASD on the project web-site.
contribution to higher education and post-graduation training programs: we will continue to involve young doctors and students in the research field of ASD, starting from our project research, as student graduation, doctoral and post-doctoral studies
Contacts with Authorities and policy developers: The scientific activities and the output of our project are highly relevant for national authorities active in Health Care and Education, and also for NGOs and other groups active in these areas.

Data regarding the Project on the Obregia Hospital website: http://spital-obregia.ro/eea-ro-no-grant-62019/

Scientific article and conference communication papers (oral presentations and posters)

2022

2023

Adelina Glangher, Magdalena Budisteanu, Emanuela Andrei, Florentina Linca, Ioana Doina, Cristina Nedelcu, Laura Mateescu, Florina Rad. Allergic disease in a cohort of ASD patients from Romania: prevalence and description . The 15th EPNS Congress at the Prague Conference Centre, Prague, Czech Republic on 20-24 June 2023

2. Sigrun Hope, Aihua Lin, Shahram Bahrami, Linn Rodevand, Oleksandr Frei, Saira J. Hussain, Weiqiu Cheng, Guy Hindley, Heidi Nag, Line Beate Ulstein, Eva Malt, Magdalena Efrim-Budisteanu, Alexey A. Shadrin, Kevin O`Connell, Anders M. Dale, Srdjan Djurovic, Terje Nærland, Ole A. Andreassen, Bidirectional genetic overlap between autism spectrum disorder and cognitive traits, under review – Translational Psychiatry
3. Papuc, S.M.; Erbescu, A.; Glangher, A.; Streata, I.; Riza, A.-L.; Budisteanu, M.; Arghir, A. Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome. Genes 2023, 14, 327. https://doi.org/10.3390/genes14020327

Conference presentations
1. A. Arghir, S. M. Papuc, I. Ciocanea-Teodorescu, A. Erbescu, L. Albulescu, F. Rad, L. Mateescu, R. Grozavescu, E. Andrei, B. Budisteanu, A. Glangher, F. Linca, S. Riga, D. Ioana, C. Nedelcu, M. Budisteanu, Rare copy number variation in autism spectrum disorders, European Human Genetics Conference, Hybrid Conference Glasgow, Scotland, UK, June 10–13, 2023

2. Lucia Emanuela Andrei, Laura Mateescu, Adelina Glangher, Doina Ioana, Florentina Linca, Emilia Severin, Sorin Riga, Florina Rad, Magdalena Budisteanu. Early warning signs and symptoms – the first steps on the road to Autism Spectrum Disorder diagnosis. 20th International Congress of the European Society for Child and Adolescent Psychiatry. 29th of June to July 1st, 2023, Copenhagen, Denmark

3. M. Budisteanu,S. M. Papuc, A. Erbescu, L. Albulescu, F. Rad, G. Gaina, L. Mateescu, D. Barca, M. Dobre, E. Andrei, B. Budisteanu, A. Glangher, F. Linca, D. Ioana, S. Riga, A. Arghir, Rare genomic imbalances encompassing kinase genes in a group of patients with autism spectrum disorders, 14th European Cytogenomics Conference, 1-4 July 2023,n Montpellier, France.

4. Adelina Glangher¹, Magdalena Budisteanu^1,2,3, Emanuela Andrei, Ioana Doina, Laura Mateescu, Florina Rad. Allergic disease in a cohot of ASD patients from Romania: prevalence and description. European Pediatric Neurology Conference. Prague, 20-24.06.2023.

5. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Gisela Gaina, Florentina Linca, Adelina Glangher, Doina Ioana, Aurora Arghir. Intellectual disability in Duchenne muscular dystrophy. A case report. “Victor Babes” National Institute of Pathology Conference. Bucharest. 2-4.11.2023.

6. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Diana Barca, Raluca Grozavescu, Cristina Nedelcu, Aurora Arghir. 2q23.1 deletion syndrome – a rare cause of autism spectrum disorder. National Congress of Pediatrics. Sinaia, 26-28.09.2023

7. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Maria Dobre, Lucian Albulescu, Gisela Gaina, Aurora Arghir. Clinical and molecular findings in autism spectrum disorders. National Conference of Human Genetics. Timisoara. 28-30.09.2023.

8. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Emanuela Andrei, Florentina Linca, Doina Ioana, Cristina Nedelcu, Laura Mateescu, Raluca Grozavescu, Florina Rad, Aurora Arghir. Sleep disorders in children with autism spectrum disorders – clinical and genetic aspectes. The XVIIIth Nationale Conference of Mentale Health of Child and Adolescent. Bucharest. 30.03-02.04.2023.

9. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Aurora Arghir. Jacobsen Syndrome – a rare cause of autism spectrum disorder. Conference „Rare disease day”, Centrul National de Recuperare Neuropsihomotorie Dr. Nicolae Robanescu, Bucharest, 28.02.2023

10. Magdalena Budisteanu, Adelina Glangher, Emanuela Andrei, Florentina Linca, Doina Ioana, Florina Rad, Sorina Mihaela Papuc, Alina Erbescu, Aurora Arghir. Genetic syndromes associated with severe speech delay. Nationale Conference “Speech therapy – The sience and Arte of Communication – Neurodevolopment disorders”, Bucharest, 25-26.03.2023.

11. Genetic syndromes with autistic spectrum behavior. Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Aurora Arghir. Conference “The change of paradigme in autism”. Bucharest. 18.03.2023

12. Magdalena Budișteanu, Florentina Linca, Emanuela Andrei, Doina Ioana, Adelina Glangher, Cristina Nedelcu, Laura Mateescu, Iuliana Dobrescu, Florina Rad, Sorina Mihaela Papuc, Aurora Arghir.The role of parental age on the symptoms severity in children with autism spectrum disorders. British Pediatric Neurology Society Conference. Virtual. 26-27.01.2023.

13.Magdalena Budisteanu, Florentina Linca, Adelina Glangher, Emanuela Andrei, Doina Ioana, Sorina-Mihaela Papuc, Aurora Arghir .Somatic comorbidities in autism spectrum disorder. National Conference of Pediatrics. Bucharest, 5-8.04.2024.