What is Autism? Actually, I am reluctant to provide a solid definition of what autism is. Science and the Internet are abuzz with so many extremely vague and very different definitions.
I’m not about to deliver the one and ultimately correct definition of autism. It is my intention to take a stand: if you have to define what autism is, then you should do it in a way that respects autistic people and takes them as they are.
I personally have come to the conclusion that it is not so important what autism is and whether autism is – but that is a path that everyone must walk for themselves.
More and more evidence points to a genetic basis for autism. It is unclear what exactly causes genes to generate these alterations in brain formation so they affect some of its areas. It is hypothesized that these genetic alterations have an environmental origin, and every day we find more evidence of how certain chemical compounds, both by themselves and in combinations – affect the body and alter the genetic quality, and therefore inheritance. But what is more and more apparent is that autism has a prenatal origin, i.e. the child is born with a series of changes that will cause the visible signs of autism to appear to a greater or lesser extent.
A team of researchers from the University of California San Diego School of Medicine, and the Allen Institute for Brain Science have conducted a study (1) on brain tissue to try to find structural differences between the brains of people with autism compared to people without any disorder. For this purpose they focused on the study of the prefrontal cortex, located on the outer region of the brain. This brain area was chosen because it is one of the first that develops. This area builds on 6 layers that are shaped during development of the baby in the womb. And during that process, each cortical layer develops its own specific types of brain cells, each cell type is constructed based on a genetically predefined pattern and form the cerebral network that will be responsible for brain connectivity, which among other functions processes information.
Because the cortex is formed before birth, the results suggest that autism starts in the womb, the researchers say. “The results suggest that between the second and third quarter,” said lead researcher Eric Courchesne, a professor of neuroscience at the University of California, San Diego.
Study results are preliminary, but they offer proof of concept that the method can link certain behavior, or phenotype, to a specific genetic structure or genotype. The signatures of shared behavior may indicate shared gene pathways that lead to behaviors, which in turn could hint at the cause of autism.
“The power of the machine learning of the vector support system is that you can find hidden patterns, ie patterns that were not detected by statistical analysis without conventional supervision” says Hilgo Bruining, assistant professor of child and adolescent psychiatry at the University of Utrecht, who also led the study.
The researchers plan to sift through large sets of behavioral and genetic data of individuals with idiopathic autism. If the algorithm can identify new behavior signatures inside these sets of data, it may be able to divide into subgroups of autism and concentrate on the genome areas responsible with the disorder subtypes.
Autism is defined according to a variety of behavioral symptoms, but it is precisely this variation – along with a complex genetic background – which makes it difficult to connect behavior to the underlying genes.
A new algorithm can make this challenge a little easier to solve. The algorithm, which uses a form of artificial intelligence to learn as it goes, analyzed behavioral data and has learned to recognize six genetic disorders associated with autism, according to research published February 11 in the journal of Molecular Autism.
Researchers hope to use these behavioral signatures to narrow their search for the genetic bases of ‘idiopathic autism’, for which there is no known cause.
Autism is usually congenital and is manifested in children between 18 months and 3 years old.
An estimated 1 in 150 children of school age could present an autism spectrum disorder.
The first symptoms are usually the child loses speech, does not look others into the eyes, seems to be deaf, has obsession with certain objects, or shows complete disinterest in social relations with others.
The Confederation for Autism in the UK defines autism as part of the Autism Spectrum Disorders (ASD), a complex set of disorders that affect development of the nervous system and brain functioning, particularly in aspects related to the processing of information coming from social stimuli.