New Delhi (India), September 11: Autism, a neurodevelopmental disorder, has grown exponentially in recent decades. Around 18 million people in India are diagnosed with autism, and 1 to 1.5 per cent of children between 2 and 9 years are diagnosed with autism, according to recent surveys. Despite a steep rise in autism numbers in the last few decades, there is no established cause and treatment, and research is minimal in this field.
Postmortem brain tissue studies provide essential clues to understanding autism. Neuroanatomy udies on the autistic brain show alterations in developmental processes like neuronal migration, neurogenesis, neuronal differentiation, synaptic pruning, microglial inactivation, and functional circuitry formation, which indicates developmental errors occurred during the embryonic stage; what causes these developmental errors is unknown till now. Multiple theories and hypotheses are postulated, and none have been proven till now.
Recent advancements in genome sequencing technologies have given a more precise understanding of the disordered neurodevelopment in autism; few studies showed aberrant gene expressions and protein synthesis mechanisms, which we refer to as epigenetic mechanisms. Further studies showed children without gene mutations also develop developmental errors due to abnormal gene functioning. Epigenetic errors generally occur due to some genetic mutations or gene-environment interactions.
We cannot modify genetic factors causing autism, but environmental factors causing autism can be changed. An effective antenatal program for modifying environmental factors during pregnancy might prevent autism. There are two major environmental factors during pregnancy., umbilical cord blood and uterine microenvironment. There is considerable evidence that evolutionary-related gut microbes get vertically transmitted from the mother to the fetal colon, which acts as pioneering microbes in developing entire gut flora. These pioneering gut microbes work in unison with the fetal genome and participate in whole fetal development. It is hypothesized that the environmental toxins in cord blood disrupt this association during the fetal stage, leading to autism.
Dr Chandrashekhar, Founder of Providence Microbiome Research Center and Resplice autism research foundation, is developing concept clinics with a multi-omics approach to prevent autism and improve the quality of life in autistic individuals. Clinical trials are being conducted to understand more profound aspects of multi-omics. He believes that gut microbial modulation therapies might improve the quality of life of autistic individuals, and NAC and vitamin C inclusion in the antenatal program detoxes the mother to provide a toxin-free environment to developing fetuses and might prevent autism.
In a shell, multi-omics clinics work on the principle that human physiology depends on epigenetic mechanisms. Epigenetic mechanisms, in turn, depend on the human genome, essential gut microbial genome and environmental factors. Any disruptions in this mechanism ultimately result in altered physiology, leading to pathology.
A thorough investigation into genetics, transcriptomics, methylation studies, other epigenetic studies, microbiome studies, proteomics and metabolomics studies will give a molecular diagnosis and enable us to precision medicine for most medical conditions. In addition, these clinics work for autism prevention with three basis methods: premarital genome matching, preconception planning with detox protocols and microbiome modulation therapies for expecting mothers and pregnancy management to provide a toxin-free environment to developing fetuses—more info: www.resplicecdc.com.
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