Autism and Fragile X-Associated Disorders
Location: Belgrade, Serbia
Date: September 24, 2019
The Institute for Mother and Child Health Care of Serbia “Dr. Vukan Cupic” in Belgrade is one of the two largest University children’s hospitals in Serbia treating the pediatric population from the whole region. It represents the teaching site for medical students and residents for Pediatrics and Pediatric Surgery at the School of Medicine, University of Belgrade.
In 1993, the Institute was appointed as the National Maternal and Child Health Centre by the Ministry of Health, Republic of Serbia, and is one of a few centres for rare disease in Serbia. Over 30 different departments and seven laboratories contribute to multidisciplinary approach in patient’s management. Neurological department is one of the leading clinical unit at Institute with developed all field of pediatric neurology, including neurophysiology. Since 2016 the Institute’s Laboratory for molecular-genetic diagnostics has started to implement new test method in analysis of Fragile X by CGG-RP-PCR for detection of the number of CGG repeats in the gene FMR1.
This laboratory is the first and the only genetic laboratory in our country using this very precise and specific technology in this field with EMQN certificate of good laboratory practice. Very experienced clinicians at neurology department and department for metabolic and genetic disease, in cooperation with genetics, made diagnosis of Fragile X syndrome in 13 families for last three years. In order to improve diagnosis and treatment of patients with Fragile X syndrome, at the end of 2018, the Fragile X Clinic was established (every last Friday in month) at the Institute for Mother and Child Health Care of Serbia. It is the first Fragile X Clinic in Southeast Europe.