Role of Serum Brain Derived Neurotrophic Factor (BDNF) and BDNF Gene Mutation in Autism Spectrum Disorders (ASD)

Origin of Proposal The diagnosis of autism is based solely on behavioral characteristics. There is currently no laboratory test that can be done to identify autism. The etiology of Autism Spectrum disorders (ASD) is not well understood, though it likely involves genetic, immunologic, and environmental factors. The condition was initially described in the U.S. and European medical literature in the mid-1940s; however, references to individuals both fictional and historical who apparently meet the ASD clinical profile go back several centuries. Through the 1980s, ASDs were believed to be rare, with a prevalence of no more than 5 per 10,000 persons (Gillberg et al, 1991) and were considered more of an intriguing clinical dilemma than a major public health problem. The etiology of autism still remains unknown, with many factors implicated in the development of autism phenotype. Therefore the identification of a biological marker of autism would be advantageous. Today, the prevalence of ASD is understood to be many times greater, with the condition now thought to be second only to mental retardation among the most common serious developmental disabilities, however inadequately studied in Indian population. The dramatic increase in reported prevalence has spurred an intense effort to identify early biological markers. Such markers could allow earlier identification and therapeutic intervention, contributing to improved prognosis of children with ASD. Hence the origin of the proposal lies in studying BDNF levels and mutational studies in varied clinical spectrum of ASDs with behavioral sub groups.