Autism reflects the enormous complexity of the human brain displayed by our unique behaviours. The quest for finding the underlying causes of autism can help us uncover the inner workings of our minds on either side of the spectrum.
The desire to understand the workings of the human brain is eternal. We are both perplexed and fascinated by it. The human brain has over 100 billion neurons and each neuron is connected to 10,000 other neurons. Although neuroscientists, psychologists and linguistics have tried to decipher its codes for centuries, they have only scratched the surface so far.
How our brain perceives the outside world, forms biases and devises ways to interact with it, is not only complex but also unique to each individual. The more researchers investigate it, the more they discover that factors affecting our behaviour and language are multifaceted. How would you feel if one day, all of a sudden, you lose your ability to express yourself through words?
Autism or Autism Spectrum Disorder (ASD) is one such condition that affects one’s learning, behaviour and communication. A somewhat rigid definition of autism is communication deficit and repetitive behaviour that makes it difficult to establish social bonds and relationships. People may display an array of behavioural features like poor eye contact, compulsive behaviour, repetitive actions or words and poor social skills. Learning difficulties, speech delay, limited or intensive interest in one thing, and hyperactivity are some telltale signs of autism. Depression and lack of empathy is also pretty common.
In reality, symptoms of autism display varying intensity and spectra, where each individual on the spectrum has a distinctive personality and way of expressing themselves. The blurry edges of the autism spectrum often make the diagnosis difficult. To further complicate the matter, several other neurological and psychiatric conditions display autistic symptoms. So, people on the edges are either undiagnosed or overdiagnosed and placed under psychiatric disorders. For example, people on the autism spectrum can display complete absence of spoken words or can be hyperverbal. Their perception of the world can be much sharper, vague or much more colourful as compared to the conventional black and white.
Also read: Covid pandemic has given the world a great online learning experiment
What causes autism?
But what causes it? The most accepted notion is that there is no single cause or risk factor, rather a combination of genetics and epigenetics factors that may be at play to cause behavioural shifts seen in ASD. So far scientists have uncovered over 420 genes associated with autism, with 100 genes strongly related and 30 disease-causing genes involved in the development and activity of neurons. Overall, genetic changes (mutations) in these genes account for 70 to 80 per cent of factors. The remaining 20 to 30 per cent is attributed to factors like maternal and paternal age at conception, mother’s nutritional status, gestational diabetes or thyroid, maternal obesity, lack of oxygen supply to a baby before, during or following birth, less than one year gap between kids and preterm birth.
Extrinsic factors such as exposure to endocrine disruptors like mercury in air pollution and heavy metal from pesticides present in our water, soil and food have been linked to increased risk of autism. While it is easy nowadays to examine blood samples for genetic mutations associated with autism, establishing an environmental cause is quite difficult. Though the fog over the risk factors is clearing up, we still do not know how much each of these factors contributes to each person on the spectrum.
A recent study published in Frontiers of Psychiatry evaluated the impact of Covid-19 on the behaviour of individuals with ASD. They observed an increase in PTSD-like (post-traumatic stress disorder) symptoms in people with autism, with increase in stereotypes, aggression, hypersensitivity, behavioural problems, and sleep and appetite alterations.
Also read: Does autism affect brains of boys and girls differently? Study suggests so
How to diagnose it
There is also a lot of misinformation and stigma surrounding autism. Parents often blame themselves if a child is diagnosed with autism. It is time to reiterate some facts and expel the superstition surrounding ASD. Numerous epidemiological studies have established that autism is not caused by vaccines, or bad parenting style.
While the research to detangle the complex intertwined network of genes and environment behind autism is ongoing, the incidence of autism globally is on the rise. There has been a 178 per cent rise in the prevalence of autism in the past 20 years. In India, every 1 in 100 children below the age of 10 has autism. The epidemic calls for an urgent need for better diagnostic tools, personalised care and management of ASD. Doctors dealing with people on the spectrum need newer diagnostics tools along with conventional symptomatic and behavioural screening to prepare for this underdiagnosed epidemic. A precision diagnosis approach combines insights from genetic mutations with behavioural, dietary and environmental data to provide hyper-personalised therapeutic options for each person that can help to achieve better outcomes. Early behavioural, sensory and speech therapy has been found to be effective. People on the spectrum are also prone to food allergies, vitamin and mineral deficiencies, altered protein metabolism and unusual food habits. A personalised nutrition guided by genetic data can go a long way in improving the overall health and wellbeing of autistic people.
By pinpointing the risk factors associated with autism and understanding the role of genes involved in development and function of neurons, we are getting a step closer to solving the maze of the human brain, autistic or not. We need to re-educate ourselves and embrace all forms and variations of the human mind to create a more inclusive society for people on the spectrum. There is a need to embrace cognitive flexibility on either side of the spectrum.
Author is the Founder and Chief Scientist at wellOwise, India’s first precision health startup for chronic diseases. wellOwise is doing a research project on Precision Diagnosis of Autism and parents of autistic children can contact us. Views are personal.
Source: The Print
