Letter: Genetic research and epilepsy

Over the past decades, genetic knowledge of many disorders especially mental retardation (also known as learning disability or intellectual disability) and epilepsy has been upgraded gradually because of technology improvement.

Mental retardation (MR) and epilepsy are two diseases that are sometimes found in one patient. Those two conditions basically have a different pathogenesis, but they actually have relationship. About 1-3 percent of the general population has MR, 25.5 percent of them having epilepsy. What we do as a BPKLN or Indonesian Planning and Cooperation of Foreign Affairs Department grantee, is to study and reveal the underlying genetic defects, and focus on patients with both MR and epilepsy.

MR is a neuron developmental problem. According to the American Association of Intellectual and Developmental Disabilities, MR or intellectual disability is defined as a condition that is characterized by significant limitations both in intellectual functioning and adaptive behavior as expressed in conceptual, social and practical skills, which originate before age 18. Disruption of cognitive and adaptive performance is present in 2-3 percent of the human population. Those are grouped under the term Mental Retardation.

Epilepsy by definition is a brain disorder characterized predominantly by recurrent and unpredictable interruptions of normal brain functioning that is called epileptic seizures. Epilepsy affects almost 1 percent of the whole population around the world.

Up until now only a few studies on MR in Indonesia have been carried out by Indonesian researchers or in collaboration with researchers abroad. This is the first genetic study performed for MR and epilepsy on the Indonesian population so far.

Previous studies mostly focused on cases of epilepsy in Indonesia that did not involve mental retardation. Moreover, genetic assessments as an etiological diagnostic tool for MR and epilepsy have not been recognized as a routine diagnostics tool.

We encourage the Indonesian government to start supporting genetic research based on Indonesia’s multi-ethnic population, so that in the future we will be able to improve our knowledge about genetics in Indonesian society.

Alfi Afadiyanti
Nijmegen, the Netherlands