Welcome to the 1st Pan-American Conference of Neurodevelopment: Autism, FXS and other disorders.
Be part of this meeting of world leading scientists and clinicians in the neurodevelopmental disorders area, an initiative that seeks to expand the information in clinical care and research of all Spanish-speaking professionals. One of the main tourist cities of Colombia (country with the highest reported prevalence of fragile X syndrome in the world) with greater worldwide recognition – Cartagena de Indias – will be the epicenter of this important event that will allow us to expand our knowledge in some of the disorders that affect the process of brain maturation, known as Neurodevelopmental Disorders.
The 1st Pan-American Congress of Autism, Fragile X Syndrome and Neurodevelopmental Disorders is aimed at scientists working in research as well as professionals working with children or adults diagnosed with this type of disorders. Several scientists and clinicians from countries such as Colombia, Mexico, Chile, United States, Puerto Rico and Ecuador will participate in this event.
About the event
The rate of children with neurodevelopmental disorders has not been well established, but has steadily increased worldwide in recent decades. For example, the prevalence of autism spectrum disorders (ASD) has increased by more than 600% and currently ASD affects one in 59 children and one in 37 boys according to population studies in the United States. Based on the best health care practices, genetic testing is recommended for all children with global developmental delay and ASD.
FXS is the most common cause of intellectual disability and the genetic mutation most commonly associated with ASD, however, only about 2 to 3% of people with ASD have FXS. Although the prevalence of neurodevelopmental disorders in Latin America is not clear, there is sufficient evidence that when professionals receive training and improve their knowledge they usually improve their ability to identify these conditions.
In this congress we will address issues related to autism, FXS and other neurodevelopmental disorders from a scientific and clinical point of view. On the first day we will discuss the prenatal processes of brain development and the architecture of the brain with autism, we will also present some of the research projects that are currently being developed in order to understand anomalous linguistic processes and distinguish high-risk populations from suffering from disorders of neurodevelopment. During the second day will have a clinical emphasis and we will talk about the appropriate diagnostic process, treatment and available interventions that have proven beneficial.
Colombia has the highest prevalence of FXS in the world reported to date. In addition, Colombia, due to its geographical location, becomes a strategic place to convene professionals from North, Central and South America and the Caribbean, who are interested in improving their training both in the area of basic and clinical research, as well as in the diagnosis and treatment of ASD, FXS and associated disorders. Based on the above, we invite you to be part of this project so that together we manage to advance our knowledge on the topics to be addressed.
– Update health professionals and specialists on the management of ASD and common comorbidities, with emphasis on diagnosis and new pharmacological, therapeutic and genetic advances.
– Establish and strengthen strategic alliances between professionals and academics for the promotion of new research projects and medical training
– Introduce professionals and students who are interested in the area of neurodevelopmental disorders, to new concepts on ASD, SXF and other related disorders.
– Train parents and/or caregivers on guidelines related to diagnosis and management.
FXS in Colombia
In the case of Colombia, the real prevalence of FXS has not been established through population studies in newborns or in participants of reproduction clinics as has been done in other countries. However, Dr. Wilmar Saldarriaga and collaborators in 2018, using molecular tests found a geographical genetic cluster of FXS in Ricaurte, Valle del Cauca (22 men and 11 women with full mutation of the FMR1 gene, 22 women and 5 men carrying the premutation of the gene in 1186 inhabitants) thus describing the highest prevalence in the world reported to date. Additionally, approximately 50 men and 10 women with full mutation and affected by the syndrome are registered in the Association X Fragile Colombia. It is estimated that there are about 100 relatives of these patients with molecular tests with FMR1 premutation (oral communication with the president of the Association X Fragile Colombia, May 2019)
Diagnosis and treatment of neurodevelopmental disorders
The diagnosis of neurodevelopmental disorders including ASD and FXS begins when the primary care practitioner, pediatrician or pediatric neurologist reports findings such as general developmental delay or specifically psychomotor delay, language delay or behavioral problems. If the patient has specific phenotypic characteristics, the patient’s referral to the geneticist is considered, who in the relevant cases suspects a genetic etiology and requests a test to make the diagnosis.
Early identification and proper management of neurodevelopmental problems has been associated with a better long-term prognosis; not only for affected individuals, but for the quality of life of the whole family. Specifically, the management of patients diagnosed with ASD and FXS is usually done by an interdisciplinary group that includes pediatricians, neurologists or adult neurologists, as well as physical, occupational, behavioral and speech therapists. These therapies are focused on improving development, social communication and adaptive skills. With our program we seek to improve the knowledge of the participants in diagnostic techniques and care for patients with ASD that are based on evidence. International experts will discuss the use of diagnostic tools such as ADOS 2 and interventions such as the Picture Exchange Communication System (PECS) and the Early Start Denver Model that are unknown in many clinical practices by both medical specialists and psychologists in many places in the world.
Although there is no cure for ASD or FXS, there are interventions focused on improving social communication deficiencies, associated behaviors and commonly coexisting diseases. In this congress we will discuss the usefulness and limitations of pharmacotherapy, for example, the use of risperidone in ASD and its associated metabolic effects or the use of phenobarbital when there are associated seizures; however, its use is considered neurotoxic in carriers of the premutation in FMR1. We will also discuss the evidence and indications of the use of specific medications to improve cognitive abilities in the FXS. As well as new advances in research in the area of neurodevelopment.