What do we know at present?
Exhaustive research has proven that Autism Spectrum Disorder (ASD) is a range of neurodevelopmental conditions affecting social, intellectual, communicative, emotional, and cognitive development, with varying levels of intensity. It can manifest differently for everyone. While the cause is still unclear, scientists have reason to believe that it is the result of a combination of genetic and environmental causes. Cases are either increasing in current times or are being reported more frequently, thus altering relevant statistics significantly. It has, however, helped in attracting attention towards the disorder, giving way to an increase in resources and further research into its exact nature.
Study linking Autism to a specific cell
A study published in February of 2020 by the scientists at the Lieber Institute for Brain Development (LIBD) declares that ASD can be attributed to malfunctions in a cell that produces a special coating around nerve fibers which facilitates efficient electrical communication across the brain. The finding in the journal entitled “Nature Neuroscience” states that correcting it might alter the topography of autism treatment entirely.
Using mice with ASD caused by different mutations for the experiment, researchers found a disruption in the cells that control myelin production, known as oligodendrocytes or OL for short. Myelin is a fatty substance that is critical for brain development. It creates an insulating sheath around nerve fibers in the brain, allowing for efficient communication between each other. LIBD’s lead investigator, Brady Maher, Ph.D. points out that this insulation begins just before birth and continues throughout one’s life. It is greatly significant for the healthy development of the brain, and an abnormality can result in communication and behavioral deficits, typically associated with ASD.
LIBD CEO & Director, Daniel R. Weinberger, M.D., stated, “We’re actively testing in experimental models drugs that might correct this abnormality.”
Maher furthers the statement by detailing that, after more experimentation on mice, clinical studies involving human candidates can be considered.
Genetic effects on social behavior
A team of researchers at the Biozentrum, University of Basel, have discovered that social deficits associated withautism spectrum disorder are in fact caused by genetic alteration. The mutation was traced in the gene called neuroligin-3 and was observed to have reduced the production of oxytocin, which is the hormone that regulated social behavior- especially, social interactions- in mammals.
As with most ASD research experiments, mice with certain genetic mutations that display behavior normally associated with Autism were used as a model system for this study. Professor Peter Scheiffele and his research team have been the first to demonstrate a link between the neuroligin-3 gene and the disruption of the oxytocin signaling pathway in the neurons of the mice’s brain’s reward system. It was previously unexpected that loss of neuroligin would affect the balance of these neurons’ protein synthesis and, in consequence, affecting the neuronal responses to oxyticin.
Not only that, but the research team has found that it is treatable as well. Apparently, altered oxytocin signaling is not irreversible, and can be restored. The team treated the social behavioral deficits of the mice by normalizing it through a pharmacological inhibitor of protein synthesis. It was proved successful in mice with two different models of autism, indicating that the technique may be more widely applied in autism treatment plans.
Moreover, this study implies that a number of factors implicated in autism spectrum disorder may be interconnected. These discoveries may open new avenues in the treatment of some of the social behavior symptoms pertaining to this condition.
Connection between touch-sensing nerves and Autism
An online issue of “Neurology”, which is a medical journal of the American Academy of Neurology, suggests that there may be a connection between Autism Spectrum Disorder and the sensory nerves that regulate feelings of touch, pain and other sensations. The author of the study published in the October 2020 issue, Sung-Tsang Hsieh, M.D., Ph.D., states the nature of autistic individuals being hyposensitive and/or hypersensitive to touch may help pave way for better understanding of the development of the disorder.
Questionnaires on sensory symptoms of ASD were completed by autistic individuals, and tests were carried out to understand their sensory nerves. They included skin biopsies to look for nerve damage, and heat pulses applied to the skin to observe electrical signals produced in response.
Hsieh found indications of nerve degeneration, akin to symptoms of peripheral neuropathy (associated with the peripheral nervous system- nerves that control our senses of touch, pain and other sensations) in hyposensitive individuals, who claimed they may not be aware when they would get scratched or bruised. He concludes that further research can help treat sensory deficits associated with the condition.
One of the limitations to the research, it must be noted, was that the participants of the study were all men, so the results may not apply to everyone with autism.
Continuation of Research
Until we completely comprehend the exact nature of Autism Spectrum Disorder (ASD), scientists would continue to carry out research for a profound look into the condition. Some of the research conducted in 2020 has given scientists reason to believe that genetic and cell mutation is a notable cause of autistic deficits. Many focus on varying aspects of the disorder, but may offer different pieces of a collective treatment puzzle. An analysis suggests that, perhaps, Autism cannot be viewed as a single disorder; and should instead be treated as a collection of varying deficits, so as to deal with it more successfully. Continuation of such studies would aid in improved understanding of people of determination, and can help in devising more targeted treatment plans and resources for inclusion centers and supportive institutions, like Small Steps Big Dreams in Dubai, UAE. With an increasing number of cases, it is no wonder that these studies are proving more important than ever before, and are consequently encouraged.