Main Research

Intellectual Disabilities and Autism

CEBIOR supports important research arranged to understand the causes and to develop effective diagnosis, treatment, prevention, and genetic counseling for Intellectual disabilities (ID) and autism. Our research team is intended to learn the outstanding expertise in those fields from our main collaborators i.e. the Department of Human Genetics Radboud University Nijmegen medical Centre (RUNMC) The Netherlands and UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders), USA. The scope and impact of our research program are incredible for the Indonesian context. The research ranging from basic biological studies to treatment trials have led to significant contributions and discoveries in such areas as cytogenetic abnormalities, Fragile-X and fragile X-associated tremor ataxia syndrome (FXTAS), subtelomeric deletion and duplication, some rare syndromes, dysmorphological syndromes and epidemiology in ID and Autism. 

Our center has been dealing with Fragile-X Syndrome (FXS) since 1999 while the Fragile X research itself already started in 1994 as we found the first Fragile X case in Indonesia. We have evaluated children and adults with Fragile X syndrome and also carriers with the premutation from several locations in Indonesia. In 2007, the Ministry of National Health, Republic of Indonesia granted the funding to perform a large genetic screening in ID population. Furthermore, they approved our research proposal in the field of autism as well in 2009. Genetic investigations have been performed in a large mental disability population (about > 600) in special schools and institutions around the Java Island in order to screen out Fragile X cases and to find the causes of ID as many as possible, to describe new genomic disorders, to do phenotype-genotype correlation studies, to find new MR genes and to define a diagnostic protocol for mental retardation, which are applicable for the Indonesian community. These investigations were aimed to strengthen the position of medical genetics in Indonesia for the benefit of patient care, teaching and research, and also to enhance genetic awareness of Indonesian widely by providing some evidences for genetic contributions till the causation of ID. The clinical evaluation and laboratory investigations of patients with ID are the important components of our research. Based on some evidences that FXS and Autism were sharing a behavioral phenotype, screening of Fragile X mental retardation 1 (FMR1) gene among the Autism population has been one of our research topics since 2009.

Individuals with ID and/or autism experience several limitations both physically and psychologically as well as behavioral disorders. Furthermore, they suffer limited interaction with their environment and have distinctive mental, physical, social, and communicative characteristics that are very unique. In order to deal with these problems, we pioneered a center of excellence for Autism and Intellectual Disability at Diponegoro National Hospital of Diponegoro University also known as Center for Developmental Disorders and Autism (CEDIA). Interdisciplinary staffs and lecturers are involved with this Center, including specialists in pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, speech and language therapy, occupational therapy, neurobiology, pathology and social work including public health.