The 1st of April marks the start of the Autism Awareness month.
Autism is a mental condition, present from early childhood, characterized by great difficulty in communicating and forming relationships with other people and in using language and abstract concepts, thus making connecting with others socially somewhat difficult or near to impossible. Autism isn’t a single condition, but rather describes a spectrum of behaviors and characteristics related to how a person senses and interacts with their environment.
As such, it’s typically given the banner term autism spectrum disorder (ASD), and can include individuals who have extreme difficulty interacting socially and struggle to communicate verbally and non-verbally.
The behaviors are often noticed in children – mostly boys – around the ages of 2 or 3, and can include heightened sensitivity to everyday sounds or sensations, intense focus on a particular subject, and repetitive body movements such as hand flapping or pacing.
While the conditions vary in prevalence across the globe, a study conducted in 2012 estimated on average autism spectrum disorder (ASD) affected 62 out of 10,000 individuals.
Autism was once misunderstood as the result of a lack of motherly love and affection in the 1950s, but today it’s thought there are a variety of genes that contribute to its characteristics.
One of those genes could be UBE3A (provides instructions for making a protein called ubiquitin protein ligase, these are enzymes that target other proteins to be broken down within cells), which when accidentally copied a few too many times can give rise to isodicentric chromosome 15 syndrome –( a chromosomal disorder that researchers have recently linked with ASD), which results in impaired social interactions, reduced squeaking, and an increase in repetitive behaviors such as grooming. It turns out that having too much UBE3A shuts down members of a family of genes called the cerebellin group, which contribute to the functioning of the connections between nerves called synapses.
On the other hand, those who don’t have the gene develop a condition called Angelman syndrome, which causes developmental disabilities, jerky hand movements, seizures, and increased sociability.
Well-known researcher of autism, George Magruder Anderson and his team found that deleting UBE3A didn’t stop the seizures, but it did remove the consequence of social impairment, this means that having a little extra UBE3A – as some people with ASD have – can result in severe loss of socializing behaviors following mild seizures.
The researchers mapped the location in the brain where UBE3A was being affected by the seizures, finding it in a rather odd location.
“Most scientists would have thought they take place in the cortex – the area of the brain where sensory processing and motor commands take place – but, in fact, these interactions take place in the brain stem, in the reward system,” said Anderson.
The exact spot is a group of neurons in the midbrain called the ventral tegmental area, which is known to play a key role in motivation, falling in love, and addiction. Importantly, using engineered receptors that they could plant into the nerves, they found it was possible to switch the nerves on and off, increasing sociability.
But the finding does provide a target to study for other potential forms of treatment. “It has a therapeutic flavor; someday, we might be able to translate this into a treatment that will helps patients,” said Anderson.
It might not help every individual on the spectrum, but understanding how our brain gives rise to the variety of characteristics making up ASD could bit by bit provide options for those who find socializing difficult.
REMEMBER, ALL CHILDREN ARE BEAUTIFUL AND NEED ACCEPTANCE.
HAPPY NEW MONTH TO YOU ALL!