Improved Diagnostic Techniques for Autism

Autism spectrum disorder (ASD) is characterized by communication and behavior development deficiencies in comparison to peers. These symptoms exist in a wide range and are typically used in diagnostic tests. The earlier patients are diagnosed and treated according to their specific set of symptoms, the better the odds are for healthy social development. Apart from observing behavior, there has not yet been a way to diagnose patients, which can delay treatment start time in some cases. Scientists at Kanazawa University have been working on a technique to utilize brainwave activity to identify ASD symptoms.

The first step to developing this new technique was expanding on their formed hypothesis that autism results from an imbalance in excitatory and inhibitory neuron ratio. A neurotypical individual would posses a ratio of 4 excitatory neurons for every inhibitory neuron.This ratio can be visualized in patients by observing a specific type of brain wave activity referred to as gamma oscillations. Researches studied gamma oscillations in groups of children with and without ASD from ages 5 to 7. Subjects performed specific tasks while being evaluated in response time and brain wave activity.

Scientists expected reaction time to be visibly reduced, but the interesting find came when observing the gamma oscillations. Specifically, a lower frequencies in these brain waves were found, which correlates with reduced inhibitory neuron activity. This finding is characteristic of ASD, and manifests as patients inability to control motor movements at the level of their peers. Observing gamma oscillations, along with current behavioral tests, will assist future patients in earlier diagnosis and therefore better treatment options.

The Discovery of Over 100 Genes Linked to Autism

Autism affects several thousand people across the United States. The discovery of autism in a child usually ranges between the ages 2 and 3. A child or individual who suffers from autism experiences symptoms such as difficulty communicating and struggling with social interactions. Not only do they struggle with socially communicating with others, they are also sensitive to to certain sounds or sensations. Many scientists do not know the origin of autism but they now believe genetics may play a role in the development of the disability. Originally, it was found that 65 genes were involved in the development of autism, until new studies have recently found new mutations that are linked to the disorder.

The new study the discovers 102 genes that are linked to autism, was done at Harvard University by Jack Kosmicki. Him and his team gathered genes from over 37,000 people where they found new mutations and difference in genes in affected and controlled individuals. The discovery of the new genes has lead to being able to identify the differences between autism and other disorders such as intellectual disability and developmental delay. The hope for the discovery is to combine with other studies to create a better understanding while showing the linkage between all of the traits and genes that affect this disorder. Personally, I believe it will help identify the correct disorders for children in the developing stages to provide them with the correct course of action. Also, by continuing the discover the linkage between autism genes, there may be so way in the future to use CRISPR technology in early developmental stages of the disorders and many others.

Article: http://blogs.discovermagazine.com/d-brief/2018/10/17/scientists-discover-102-autism-linked-genes-in-largest-study-to-date/#.W-y5mi3Mx-U
Related Article: https://www.medicalnewstoday.com/info/autism

De Novo Mutation Gene linked to Poor Motor Skills in Autism

There are two types of genetic factors that can contribute to Autism Spectrum Disorder (ASD). They are inherited mutations and de novo mutations. De novo mutations do not appear in either parents` genetic makeup but are present in the child. Past research indicated that the presence of damaging de novo mutations correlated with lower non-verbal IQ. This new study found that reduced motor skills also correlates with de novo mutations in ASD. The motor skill correlation is a stronger indicator of the severity of the damage of the de novo gene than IQ. Impaired social skills and communication are hallmark traits of ASD, these traits are not linked to the presence or absence of de novo mutations. Research speculate that children who have ASD as a consequence of inherited factors have less general cognitive damage than those with de novo mutations. A possible explanation for this is that individuals with cognitive disabilities are less likely to have children, passing down their genetics. The results from this study can be a facet of clinical evaluation of patients. The near universality of poor motor skills in ASD children is an indicator that the factors that cause the core behavioral defects also cause general cognitive dysfunction. I thought this article was interesting because the general population is told that genetics are a component in ASD in the context that if ASD is in the family the child can have ASD. This study indicates that the genetic component of ASD is a result of mutations so there is less certainty to rule out the possibility of having a child with ASD. With the discovery of these de novo mutations can lead to more intense research on ASD causing genes. Topics that could be explored with this new information are which individuals are more susceptible to this mutation, what do this mutations code from, and how this mutation is caused could. Also the mechanism of the develop of ASD could be studied with a more complete understanding of the genetic component of ASD.

Experimental drugs rewire brain connections in autism

       

       The University of Texas Southwestern in Dallas has recognized two possible new treatments for autism spectrum disorder, targeting the impact of a faulty gene on neural communication. Autism it a serious developmental disorder that weakens the ability to communicate and interact. It often works as a canopy for autism spectrum disorder (ASD). It is categorized by repetitive behaviors, and impaired social communication. According to the Centers for Disease Control and Prevention (CDC), around 1 in 68 children in the United States have been diagnosed with ASD. Treatments for ASD often focused on addressing the behavioral symptoms and helping people with the disorder to learn better communication strategies. Till now, very few efforts have targeted the biological causes of autism.

       The two potential treatments that could restore the neurotransmission processes affected by the absence of a gene known as KCTD13. JCTD13 gene encodes a protein with the same name, and its expression level have linked with abnormal brain size, arguing on the loss and the gain of the chromosomal segment that contains this gene consult a substantial risk of autism and evolving delay. KCTD13 is not tied to the size of the brain but it is tied to synaptic transmission, or neurotransmission; this is the neurons ability to transmit information. KCTD13 deletion did not result in increased brain size, increased embryonic cell proliferation, and changes in migration. The deletion of KCTD13 impairs brain function in a major way, and they found a way to repair the damage, but they have more work to do before they try these treatments on people. The findings give us a clue as to what pathways are altered and where to look. The absence of KCTD13, increases the level of RhoA (a protein) which impairs synaptic transmission. To counteract the effect of the gene deletion, the researchers of the University tested different types of RhoA-inhibition drugs: Rhosin and Exoenzyme C3.

       Rhosin and Exoenzyme C3 were successful in restoring normal synaptic transmission in under 4 hours, the incubation of brain slices in RhoA inhibitors could reverse synaptic abnormalities within the relatively short time frame of a few hours. Exoenzyme C3 is currently being tested in clinical trails for the treatment of spinal cord injury. If successful, they hope that these trials will smoothen the path for further tests of the drug’s potential in ASD treatments, as well. First, we would like to know if RhoA levels are altered in the mouse, who lacks the chromosomal segment that contains KCTD13. Secondly, determine if the abnormal locomotor behavior in the KCTD13 mice might be rescued by treatment of the whole animal with RhoA inhibitors. And in the end, genetic models of autism were predicted to alter the RhoA pathway.

References:

Cohut, M. (2017, November 02). Experimental drugs rewire brain connections in autism.

Retrieved November 08, 2017, from https://www.medicalnewstoday.com/articles/319945.php

Washington University School of Medicine. (2017, November 2). In autism, too many brain connections may be at root of condition: Learning, social issues may reflect neuronal miscommunication. ScienceDaily. Retrieved November 10, 2017 from www.sciencedaily.com/releases/2017/11/171102131330.htm