Medically Verified By: Dr. Sarath R S
What Causes Autism? The Role of Genetics and Environment
Every year in the month of June, the world observes Autistic Pride Day. Unlike other health-related campaigns, this is not a public awareness program designed by outsiders. It was created by autistic people, for autistic people. The purpose, broadly speaking, is to shift the narrative away from viewing autism as something a person suffers from and toward recognizing autism as part of human neurodiversity. Autistic Pride Day has been marked every year since 2005. The rainbow infinity symbol was introduced alongside the very first Autistic Pride Day to represent the infinite diversity and variations of the autism spectrum.
Even though the condition is not rare, many fail to understand the inside stories that lead to autism, the genetic lineups and the science behind it. To understand the condition better and know how parents can spot the symptoms in its early phase, we spoke to Dr. Sarath R S, Consultant, Department of Medical Genetics, Apollo Adlux Hospital, Angamaly. Here is all that you need to know about the 'science behind autism'.
In many homes across the world, a diagnosis of autism still arrives as a shock. Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by differences in social communication, sensory processing, and patterns of behaviour. Given that the term spectrum refers to, it can be said that autism is not just one illness but encompasses a broad spectrum of different human beings.
There are people on the autistic spectrum who depend on lifelong assistance for basic functioning, while others do well in life and have a professional career. Current estimates suggest that approximately 1 in 100 children worldwide is autistic. It is estimated that more than 2 million Indian children may be on the autism spectrum.
The stigma surrounding autism in our community is so pervasive that it often hampers the health-seeking behaviour of parents. Families delay seeking help because they are afraid of the label. Early intervention often leads to better developmental outcomes, particularly during the first few years of life when the brain is rapidly developing. However, because of the associated taboo, parents often hesitate to seek medical help, and we lose this golden window for intervention. The families who fare best are not those who deny the challenges of autism, but those who replace fear with trust in science. A mother once told me that the hardest part of her child's diagnosis was not autism itself, but the constant pressure from relatives who insisted that he would "grow out of it." Once the family accepted the diagnosis and started therapy, progress followed steadily. When parents become a part of rehabilitative therapies, the entire dynamic shifts for the better.
This pervasive fear and desperation also create a fertile ground for exploitation. Vulnerable parents, in their quest for any sort of answer, may easily fall victim to unscrupulous people and businesses offering dubious products that promise to provide aid but actually do nothing to help their child in any way possible. The open space is full of lies and half-truths, with quacks offering baseless claims that autistic disorders are caused merely due to changes in the gut bacteria of children or that autism is easily curable when you restrict your diet and take vitamin supplements at expensive rates.
For instance, the problem of autism in India is often much more complicated than that faced by developed nations. Issues such as extended wait times to access developmental assessment, a lack of skilled developmental paediatricians and therapists, as well as high costs associated with interventions over time, have been reported to plague families dealing with this issue.
To seize this opportunity, however, early detection is crucial. Although development times vary for each individual, there are some developmental markers whose nonexistence should cause alarm. For example, if, by six months of age, a baby fails to exhibit any social smile or joy when interacting with other people, it could be a sign. Similarly, once a baby attains nine months, there may be a lack of reciprocity in the exchange of sounds and smiles. If, at the one-year mark, the child fails to react when someone calls out his or her name or fails to gesture back and forth, this too may signify a problem.
As development continues, other signs may emerge. Two-word phrases may not be observed by the time the child is two years old. Behavioural symptoms can include failure to make eye contact, playing alone most of the time, odd responses to stimuli such as sound, smell, or texture, or making repetitive actions such as hand flapping and spinning. While none of these symptoms is definitive evidence of autism, they are clear indicators of problems requiring further intervention.
There are many more indicators as development progresses. At two years old, a lack of significant and spontaneous two-word phrases may occur. Behaviour markers involve the inability to make eye contact, being happiest playing alone, having abnormal responses to sensations including sounds, smells, and touch, or making repetitive body movements such as hand flapping or spinning. All of these indicators do not diagnose autism on their own but rather indicate a problem that needs further attention.
The etiology of Autism is complex, characterized by a combination of genetic and environmental causes. From twin and family research, the genetic component of autism seems very important with heritability levels being reported above 80%. Despite comprehensive genetic evaluations, a genetic diagnosis can be reached in about 30-35% of the cases today. Once diagnosed, the significance of the process goes beyond naming the disorder.
For many families, a genetic diagnosis offers certainty and an explanation for their struggles in addition to alleviating unnecessary feelings of guilt. The benefits of reaching a genetic diagnosis include identifying other potential medical issues, such as seizure disorders or other medical conditions, guiding management, and establishing risks of recurrence for future pregnancies in certain disorders.
The neurodiversity movement has introduced a powerful reframing that autistic people are not defective versions of neurotypical people. Many autistic individuals demonstrate remarkable abilities in pattern recognition, deep focus, memory for specialised subjects, and logical thinking. The question society must ask is not merely how to reduce autistic traits, but how to support autistic individuals in achieving their fullest potential.
This does not mean that we underestimate the real problems that exist concerning communication barriers, social exhaustion, and inadequate support systems. Recognizing neurodiversity does not mean ignoring the actual struggles being faced by highly supported autistic people and their families. The problems are real. But how we handle these problems should come from accommodation, not sympathy.
In order to change the discourse on autism, determined efforts need to be made at all social levels. From the standpoint of parents, the first step involves searching for reliable specialists who can provide them with relevant data. By making sure a child is embraced by acceptance and interacting with support groups, one may easily turn a feeling of loneliness into unity. The concept of inclusive education should become not only an educational issue but also a moral one.
The health sector players have a vital part to play as well. Proactive screening and early referral become key. Appreciating the importance of taking a multidisciplinary approach by having developmental paediatrics, psychological input, therapy and medical genetics operating smoothly together becomes important in providing a holistic approach.
At a much wider societal level, it counts a lot for one's presence. If people with autism get to be seen in public spaces and at their workplaces as complete human beings and not sources of motivation, society starts changing its attitude. Last but not least, for policy makers, it is important that greater access to therapy services, professional special educators, and rights protection in the workplace should become available to people with autism..
The process of creating a truly inclusive society involves more than just becoming aware of the existence of autism. While awareness is reactive, acceptance is proactive. Acceptance entails listening to autistic adults about their real-life situations and accepting the fact that there is no need for an autistic child to be like any neurotypical individual.
By no longer approaching autism as either a tragedy or a mystery that needs to be unlocked, we have a whole realm of possibilities at our disposal. We allow children to grow up without the heavy burden of trying to act like someone they are not. We allow parents to release the guilt and embrace the unique reality of the child in front of them.
As we observe Autistic Pride Month, the goal is not to dismiss the very real hurdles families face, but to ensure no one has to face them hidden in the shadows of stigma. It is a call to society at large to build bridges rather than walls.
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