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Update: New understandings of ASD

Autism spectrum disorder is a prevalent neurodevelopmental disorder characterized by social difficulty and restrictive and/or repetitive behaviors. After looking at the multiplicity of genes implicated in the etiology of the extent of ASD symptoms were found to be long-reaching. Primary findings point to numerous risk genes for ASD that contribute to synaptic function. The synapse is the place where the signal is passed from one neuron to the next. This occurs in the brain as it develops. Scientist feel ASD is a disorder of these gene regulatory networks.


Autistic Spectrum Disorder (ASD) is a behavioral condition that has a part of the etiology difficulty with communication and social interactions. It often contains restricted and repetitive behaviors (RRB). First described in 1943, it is a lifelong neurobehavioral syndrome identified by key marked deficits accompanied by issues of communication. Now in the age of DNA and genome studying, genetic correlation is found currently due to strides in genome studying. Many ASD components have shown definite genetic links but this study declined to look at them. ASD is 50-60% inherited. For this study, restrictive repetitive behaviors were followed as this gave the researchers less variability in their data gathering. They concluded ASD continues to be poorly understood (Cantor et al, 2017).

Difficulty with Understanding ASD is lifelong

Even with all the study, most doctors have difficulty in identifying ASD in children. According to the DSM-IV they most often attributed the child’s behavior as being an aspect of ADHD. In the education setting, ASD individuals were placed in ‘regular’ classrooms where they have been the target of bullying leading to an early death. Recent studies have identified that ASD often is accompanied by psychiatric disorders as well as leading to inferior education and struggling with their lives after education (Douglas et al, 2019).

ASD research has yet to accumulate data on the scale of other studies. But as the costs of data collection go down, opportunities to discover new analysis. ASD is a neurodevelopmental disorder that has social communication deficits and issues. In addition, they display restricted repetitive patterns of behavior as well. Currently, doctors depend on assessments done by behavioral observation. There have been great strides made in identifying the genes associated with ASD and other disorders. This process helps researchers focus on the etiology of the disorder. These researchers explored 45 articles to find repeatable steps to identifying ASD. They mentioned it is very important for datasets used to determine if ASD is present must be representative of the focused population. While the predictability of models used to measure if a person has ASD the model needs to be flexible enough to include inferential conclusions in addition to keeping bias at a minimum (Hyde et al, 2019).

Autism is Highly Inheritable
ASD is highly inheritable and presents as a group of neurodevelopmental types identified in more than 1% of children. A genome-wide association meta-analysis of 18,381 ASD cases with 27,969 unaffected cases as controls found five significant loci. This disorder is a group of pervasive neurodevelopmental disorders noted by impaired social and communication skills. They also have repetitive and restrictive behavior. ASD affects 1-1.5% of individuals. This study was done on individuals born between 1981-2005 and had been diagnosed with ASD before 2014. This showed there was a correlation between genetic markers for ASD and other mental health issues such as schizophrenia, major depression, and education attainment. The genes that are attached to this are also seen in the cognitive genotypes associated with educational attainment. It was found that there was a strong overlap between ASD and ADHD. In addition, it was determined that education attainment is confined to Aspergers and childhood autism. That it is missing in atypical autism or in other/non-specific pervasive developmental disorder. Of the five loci of risk that was identified, three were correlated with schizophrenia, major depression, and level of educational attainment (Grove et al, 2019).

Continued Stumbling Blocks
Parents of children with ASD face many hurdles in their care. And while many parents are in favor of genetic testing by use of saliva, they still are hesitant because they don’t know what the insurance companies would do with the information. Would a positive gene for ASD cause the parents to lose their healthcare? And while behavioral tests are the main determiner of ASD diagnosis genetic testing can show other known psychiatric disorders that often are part of ASD. Epigenetic refers to the change in gene expression when there is no modification of the actual DNA sequence. Study of epigenetic has helped to understand their effect on psychological conditions, not just ASD. To date, there is limited research investigating parental perception and genetic testing for ASD. And while epigenetic testing is considered a novel approach it is hoped in time this kind of testing will result in knowledge about adult-onset conditions for screening or diagnostic purpose. It is most important to realize more work needs to be done to help with possible outcomes of parents who receive epigenetic results that indicate a risk for various disorders (Wagner et al, 2019).

Despite advances in behavioral screening and brain imaging the biological underpinnings of this disorder remains a mystery. ASD encompasses a range of neurodevelopmental disorders with deficits in social interactions, communication, and repetitive and restricted behaviors; even though early detection and more effective treatment, the neurobiological bases of autism remain debated. Most data comes from testing done in adolescence and adults as young children are hard to keep still enough for an MRI to be done. Delayed speech and atypical auditory processing in children with ASD are typical and include a number of issues. They go from a lack of eye contact while talking to others, not responding properly to their moods, words, or actions and to engage more complex social interactions. There has also been found social cognition issue as well (Liu et al, 2017).

An international group of doctors has uncovered the genes associated with developing ADHD, ASD, bipolar disorder, major depression, and schizophrenia. Between the University of Queensland, Australia and Vrije Universiteit in Amsterdam, 400,000 individuals were analyzed to find the genes connected with these disorders. According to both locations prior to this study they already presumed there was a genetic component because of their hereditary nature. The study also found a common set of genes increase your risk for all five disorders. They feel that comes from the shared biological pathways of the genes in the brain. They feel this is an important first step toward developing new medications that target these pathways and help to better treat those impacted by the five disorders (UofQ, 2019).

Work Cited
Cantor, RM. Et al. (2017) ASD restricted and repetitive behavior associated at 17q21.33: Genes prioritized by expression in fetal brains. Molecular Psychiatry, 23(4).

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Douglas, P. et al. (2019). Re-storying Autism: A body becomes disability studies in education approach. International Journal of Inclusive Education.

Grove, J. et al. (2019). Identification of common genetic risk variants for Autism Spectrum Disorder. Nature Genetics, 51(3).

Hyde, K. et al. (2019). Applications of supervised machine learning in Autism Spectrum Disorder research: A review. Review Journal of Autism and Developmental Disorders, 6(2).

Liu, T. et al. (2017). Assessing autism at its social and developmental roots: A review of autism spectrum disorder studies using functional and near-infrared spectroscopy. NeuroImage.

Sullivan, J.M., Rubers, S.D. & Schafer, A. (2019). Convergence of spectrums: Neuronal gene network states in Autism Spectrum Disorder. Abstract. Current Opinion in Neurobiology, 59.

University of Queensland, Australia. (2019). Genes underscore five psychiatric disorders. University of Queensland and University of Vrije in Amsterdam.

Wagner, K.E. et al. (2019). Parent perspective toward genetic and epigenetic testing for Autism. Journal of Autism and Developmental Disorders. Pp 1-12. Springer, US.