Autism Spectrum Disorder (ASD) is a complex, lifelong condition influenced by genetics, environment, and epigenetics. This video explores key causes—air pollution, toxins, screen time—and dispels common myths like vaccine and stem cell therapy links. It highlights culturally sensitive diagnosis tools like AIIMS-PDD and underscores the importance of early intervention, evidence-based care, and inclusivity. With 80% of ASD cases showing comorbidities, and misinformation on the rise, parents must rely on trusted sources.

Shahid Akhter, Editor, Healthyouonline, spoke to Prof. Sheffali Gulati, Head of Pediatric Neurology at AIIMS, New Delhi, to understand the evolving landscape of Autism Spectrum Disorder—its causes, diagnosis, treatment myths, and the urgent need for inclusive, evidence-based care in India. Dr Sheffali Gulati

Autism Spectrum Disorder

As the name suggests, Autism Spectrum Disorder (ASD) includes the word spectrum, which indicates that the challenges and symptoms vary widely from child to child, both in type and severity.

What exactly causes autism

We still don’t fully understand what exactly causes autism—it remains a complex puzzle. However, three major contributing domains have been identified: genetics, environmental factors, and epigenetics. Regarding heritability, multiple studies have shown that autism has a heritability rate of around 81%, making genetic contribution significantly relevant.

On the environmental side, studies have indicated associations with maternal exposure to air pollution during pregnancy, use of drugs like valproate or certain SSRIs, and malnutrition—particularly zinc deficiency. Exposure to pesticides through contaminated fruits and vegetables is also a known concern.

Heavy metal exposure has also been studied. In children with autism, elevated levels of toxic metals like lead, mercury, arsenic, and cadmium have been found compared to age- and gender-matched controls. Epigenetics refers to how environmental factors—both internal and external—can influence gene expression without altering the DNA itself. While we cannot change the genes we are born with, we can influence how they function, and this may be a potential game changer.

Increased screen time exposure in one-year-old boys has been associated with a higher likelihood of autism diagnosis at age three. However, it's important to remember that these are correlations, not proven causal links. Many complex factors may predispose a child to autism, but no single cause has been definitively proven.

Diagnosing autism

Diagnosing autism does not require exotic or expensive tests. It primarily relies on detailed history from parents and direct observation of the child.

We have culturally sensitive diagnostic aids like the AIIMS Infant Screening Tool for children aged 1 to 18 months. For ages 1 to 14 years, we use the AIIMS Modified Inclination Data Tool, which aligns with DSM-5 and ICD-11. This tool involves asking specific questions to the primary care provider and observing the child. If there's any discrepancy between parental observation and professional assessment, the tool marks an asterisk to guide which input should be prioritized.

This diagnostic approach is also available as an app called PDD Neuro-AIIMS. The app not only screens for autism but also includes tools for ADHD, epilepsy, and neuromotor impairments like cerebral palsy, neuromuscular diseases, and sequelae from strokes or infections. Autism Spectrum Disorder often coexists with other conditions. In our dataset of 1,874 children with ASD, 80% had comorbidities like ADHD, epilepsy, sleep latency issues, and energy disturbances.

Are vaccines responsible for Autism?

Extensive research has conclusively shown that vaccines—and any preservatives within them—do not cause Autism Spectrum Disorder. This must be kept in mind, and vaccination should continue to be strongly encouraged in our country.

Is Autism curable ?

Autism Spectrum Disorder is not curable in the conventional sense—meaning it cannot be treated and forgotten. However, it is treatable. Every challenge has a solution, and while a child with autism may remain autistic for life, the concept of remission is increasingly being explored and discussed.

Our understanding of the causes of autism remains incomplete. Similarly, new treatment approaches and claims continue to emerge regularly.

It is crucial for parents to rely on evidence-based sources of information. One such resource is our website — www.pedneuroaiims.org — which includes a dedicated autism section and a Parents' Corner. The site offers comprehensive, bilingual content (Hindi and English) on autism and other neurological and neurodevelopmental conditions.

Nearly 80% of parents explore CAM (Complementary and Alternative Management) therapies. While some may be harmless, others can be potentially harmful.

For instance, there was a tragic case in the United States where a child died after being burned in a hyperbaric oxygen chamber. There is currently no scientific evidence supporting the use of hyperbaric oxygen therapy for autism. Similarly, stem cell therapy is not recommended for autism spectrum disorder in clinical practice. Although stem cells have the ability to differentiate into various cell types, we still do not fully understand the underlying mechanisms of autism. Without this clarity, it is unsafe to assume stem cells can repair or replace any so-called “deficient” brain areas.

Research into autism is ongoing, including studies on stem cells. However, at present, stem cell therapy is not part of standard clinical care and should not be pursued as a treatment option.

Compassion in public attitudes towards Autism

There remains a lack of compassion in public attitudes and a strong stigma toward children with special needs.

It is essential for parents to know that they have a right to access appropriate support, and no one has the right to look down upon a child simply because they behave or appear differently. If there are issues with school admissions or accessibility at places like airports, parents must escalate the matter to higher authorities. Only by highlighting real-world challenges can we push for the changes needed to create an inclusive and neurodiverse world.

Autism: The way forward

All stakeholders—including parents, healthcare professionals, and educators—must be involved in research efforts and in shaping policy decisions. This collaborative approach is gaining momentum. I strongly believe that modifying environmental factors is crucial. Since these factors can affect gene expression (epigenetics), they may become the key to transformative outcomes in the future.