Investigating Fragile X syndrome in girls and adolescents

La Fragile X Syndrome (SXF) is a genetic-based cognitive-behavioral disorder classified as a minority disease and, currently, the first cause of hereditary intellectual disability. Although it can affect both males and females with X-linked inheritance, the fact that the symptoms are more serious in the male gender has influenced that most scientific research has focused on them, leaving research on women in the background.

In this context, the doctoral thesis of the Lorena Joga, child and youth neuropsychologist at Parc Taulí and member of the I3PT Growth and Developmental Disorders Research Group, with the title "Fragile X syndrome in girls and adolescents: description of the neurocognitive phenotype and its possible relationship with adaptive behavior”.

Play has studied the relationship between the different areas of the neurocognitive profile and adaptive behavior in girls and adolescents diagnosed with SXF. In addition, he has explored the risk of bullying and its link with the level of functional adaptation of these girls. All of them, at the beginning of their educational stage, face numerous challenges that represent a very important change in their lives. However, the great ignorance of the syndrome by students and teachers has made its identification in classrooms in many cases impossible.

Today, on World Minority Disease Awareness Day, we want to highlight/value research that can make a significant difference in the lives of people affected by low-visibility diseases. That is why, within the framework of the DM we publish the second chapter of the series Present your thesis' linked to the research of these pathologies, reaffirming at the same time our commitment to give visibility to the work of our research staff and to contribute to the scientific dissemination of the research we do at Parc Taulí.

At I3PT we have one research area focused on minority diseases, with three groups dedicated to progress in the understanding and treatment of these: the group of disorders of Growth and Developmentplatforms, group of Genetically Based Neurodevelopmental Disorders and the group dedicated to the study of Cystic Fibrosis.

Also, the Parc Taulí University Hospital has been designated by the Catalan Health Service as an expert center of the "Network of Clinical Expertise Units in Genetically Based Cognitive Behavioral Disorders in Pediatric Age", being one of the main coordinators in the care process for Fragile X Syndrome.