Assistant Professor Débora Pérez García Participates as a Speaker at the 2nd National Conference on 7q11.23 Microduplication Syndrome
The researcher shared evidence-based intervention strategies aimed at improving care and support for individuals affected by this rare disease and their families.
Assistant Professor Débora Pérez García, from the Department, participated as a speaker at the 2nd National Conference on 7q11.23 Microduplication Syndrome, held on 27 June in Barcelona. The event brought together families, professionals, and researchers to share knowledge and experiences related to this rare genetic condition. The conference was the second national meeting held in Spain since the establishment, in 2015, of the first national association for individuals affected by chromosome 7q11.23 duplication, whose work has been instrumental in promoting research, awareness, and support for affected families.
During the conference, Assistant Professor Pérez García delivered a presentation entitled “Psychological, Cognitive and Behavioral Phenotype: Intervention Strategies”, in which she discussed the main neuropsychological characteristics associated with the syndrome and reviewed evidence-based interventions that may contribute to improving the quality of life of affected individuals and their families.
The presentation focused on the psychological, cognitive, and behavioral profile typically observed in individuals with 7q11.23 microduplication syndrome, a rare genetic alteration that may be associated with difficulties in language development, learning, attention, social skills, and emotional and behavioral regulation, among other developmental areas. In addition, practical guidance and intervention strategies were presented for families and professionals working in psychology, education, speech and language therapy, and early intervention. Particular emphasis was placed on the importance of adopting individualized and multidisciplinary approaches tailored to each person's specific needs in order to promote development, well-being, and social inclusion.
Assistant Professor Pérez García’s participation in this conference reinforces the Department’s commitment to research and knowledge transfer in the field of rare diseases and neurodevelopmental disorders. Furthermore, it contributes to strengthening collaboration between specialized professionals and patient associations, fostering the dissemination of rigorous information and the development of support strategies grounded in scientific evidence.