Blog
2nd SYNGAP1 Scientific Congress
- 15 septiembre, 2023
SYNGAP1 Syndrome is a genetic disorder caused by a genetic mutation of the SYNGAP 1 gene, which interferes with the production of the protein of the same name, key to the effective communication of neurons. The first case was diagnosed in 2009 and it is estimated that worldwide there are between 1 and 4 cases per 10,000 people.
The syndrome generates intellectual disability and developmental delay. Its symptoms are diverse and are not evident in all cases. Among the most obvious signs are:
- Cognitive or intellectual disability
- Decreased muscle tone
- Delay in global development
- Epilepsy
- Autism
- Speech alterations
- Delays in motor skills. Which manifest themselves in difficulty or inability to control movements in the arms and legs, that is, they manifest as a delay in gross motor development.
- Sensory processing disorder (SPD)
- Ataxia or coordination disorder
- Sleep disorder
- Visual problems
- Alterations in the ability to feed
The diverse symptomatology of SYNGAP1 requires interdisciplinary work for its diagnosis and intervention, which is why it is necessary to link professionals in: Physiotherapy, Speech Therapy, Occupational Therapy, Psychology, Nutrition and Dietetics, Neurology, Genetics, among others.
The Faculty of Health Sciences of the María Cano University Foundation finds it pertinent to update and train students, professionals and the community in general, so that a deeper knowledge of SYNGAP1 is achieved and interventions with scientific rigor can be achieved and therefore This invites the academic community to join the Second Syngap 1 Scientific Congress to be held on September 23, online and in Spanish. The event is led and promoted by Syngap Research Fund. Those interested can register through the following link: