Shaheen Akhter

By Shaheen Akhter

ASD and epilepsy, two common co-occurrent conditions, may appear in a developing brain in various genetic and non- genetic syndromes. The fact that multiple genetic and epigenetic factors, metabolic diseases, environmental factors and epileptic encephalopathies are related to the causation of both ASD and epilepsy indicate the presence of some common underlying pathophysiologic mechanisms. Although many questions are yet to be answered, recent studies suggest that synaptic aberrant connectivity and disruption of the delicate balance between neuronal excitation and inhibition (E/I imbalance) leads to various aspects of neuronal dysfunction. The presence of intellectual disability increases the likelihood of co-morbid ASD and epilepsy and all these associations greatly affect the quality of life of these children as well as their families. Therefore, understanding the genetic, cellular and molecular basis of relationship between these common co-morbid conditions is fundamental in planning appropriate and prompt management of these children. Future researches will as such continue to address the pathophysiology underlying the genetic, chromosomal, metabolic-mitochondrial disorders and environmental factors related to these co-morbidities as well as preventing them. Thus, it will lay the base of focused investigations and targeted management in this field.

Part of the book: Autism Spectrum Disorder