Sunday, May 31, 2026

Why thousands of Indian children with Autism are diagnosed late: Doctors explain what early intervention can change

 When a child is not "just taking time": Understanding Autism beyond myths

Every child develops differently. Some speak early, while others take a little longer. Some are outgoing, while others are naturally quiet. But sometimes, what appears to be a simple delay may actually be an early sign of autism.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects communication, social interaction, behaviour, and sensory processing. It is called a "spectrum" because no two autistic individuals are exactly alike. Some may require significant support throughout life, while others may live independently and excel in academics, arts, technology, or business.

The challenge in India is that autism is often misunderstood. Many families still associate it with intellectual disability, poor parenting, or behavioural problems. As a result, important signs are frequently overlooked.

Dr Ajit Singh Baghela, Sr. Consultant-Paediatric Neurology, Artemis Hospitals, explains, "Autism spectrum disorder is a neurodevelopmental disorder that affects communication, behavior, learning and social interaction. In India awareness about autism is increasing but many children are still diagnosed late. Parents often miss early signs, thinking the child will 'catch up' with age. However, early intervention can be a huge difference in a child's development and overall quality of life."

For many families, the first signs appear quietly. A toddler may avoid eye contact, respond less often to their name, become unusually sensitive to sounds, or engage in repetitive behaviours. These signs can emerge as early as 18 months to 2 years of age, yet many children are not assessed until much later.

Why does Autism take so long to be diagnosed in India?

One of the biggest challenges is not the lack of symptoms, it is the lack of recognition.

In many households, developmental concerns are dismissed with well-meaning advice. Parents are often told that boys speak late, that children develop at different speeds, or that the child is simply shy.

Then there is the issue of stigma.

Many families hesitate to seek professional help because they fear judgment from relatives, schools, or society. Some worry about labels. Others are unsure about where to go or whom to consult.

Access remains another major barrier. While metropolitan cities may have developmental pediatricians, child neurologists, psychologists, occupational therapists, and speech therapists, smaller towns and rural areas often lack these services.

Research has repeatedly highlighted these challenges. A review examining autism in the Indian context found that lack of awareness, delayed access to specialists, and limited support services continue to affect timely diagnosis and intervention.

Dr Rafat Trivedi, Senior Consultant - Pediatric Neurology & Epilepsy, Marengo Asia Hospitals, Gurugram, says, "One should consider autism more as a neurodevelopmental problem rather than as a disease, and needs proper knowledge and timely clinical intervention."

He further adds, "The early years of a child's development are absolutely crucial. One must look out for early symptoms such as delayed language development, lack of eye contact, repetitive actions, sensory sensitivity, or problems with socialisation. Early diagnosis can aid us in starting interventions at a time when their brain is more flexible and adaptive to therapy."

Why the first few years matter more than most parents realise

The human brain develops at an astonishing pace during the first few years of life. Millions of neural connections are formed every second during early childhood.

This is precisely why experts place so much emphasis on early intervention.

Early intervention does not mean changing who a child is. It means helping the child build skills that allow them to communicate better, participate in daily life, express their needs, and become more independent.

Dr Baghela explains, "Early intervention is offering therapies and support during the early years of brain development. At this stage a child's brain is very adaptable, making it easier to improve communication, learning, behaviour and social skills."

He adds, "Speech therapy, occupational therapy, behavioural therapy and special education programs can help children become more independent and confident."

Studies have consistently shown that children who receive support during their early developmental years often demonstrate improvements in communication, social understanding, emotional regulation, and adaptive skills. Early intervention may also reduce stress for families by helping parents understand how their child learns and communicates.

 

Therapy is not about fixing a child. It is about unlocking potential

 

One of the biggest misconceptions surrounding autism is that therapy exists to make autistic children behave like everyone else.

Experts say that is not the goal.

The real goal is to help children navigate the world more comfortably and confidently.

Dr Kirti Yadav, Head SBU – Rehabilitation, Marengo Asia Hospitals, Gurugram, explains, "Rehabilitation has an important role in developing life skills and building confidence among children. It is not just about enhancing their speech and behaviour; it also helps children become a part of schooling, family, and society."

She further notes, "Contemporary rehabilitation for autism requires a multidisciplinary approach that includes occupational therapy, speech therapy, sensory integration, behavioural therapy, psychology, and parent training."

Every autistic child is different. Some may struggle with communication. Others may face sensory challenges. Some may need support in school settings, while others may require assistance with social interactions.

That is why experts increasingly advocate for individualized care rather than a one-size-fits-all model.

Dr Trivedi emphasizes, "No two children with autism are alike, making it crucial for each of them to have customised treatment plans." 

Building an India where Autism is recognised earlier

India has taken steps toward supporting children with developmental disabilities. The Government-backed National Trust for the Welfare of Persons with Autism, Cerebral Palsy, Mental Retardation and Multiple Disabilities Act, 1999 supports several initiatives focused on disability rights, inclusion, and early intervention.

Yet awareness must move beyond hospitals.

Teachers, anganwadi workers, pediatricians, school counsellors, and parents all play a role in identifying developmental concerns early.

Dr Yadav stresses, "Families need proper guidance early in life; the whole future of a child can change with the right interventions. Intervention in autism is all about the possibilities."

Dr Baghela echoes the same sentiment, "Autism is not a limitation. Children with autism with acceptance, proper guidance and early intervention, can lead meaningful and productive lives."

The conversation around autism in India is gradually changing. More parents are seeking developmental assessments. More schools are discussing inclusion. More healthcare institutions are creating early intervention programs. But experts agree that much more needs to be done.

Because when support arrives early, the benefits often extend far beyond childhood. They can shape education, employment, relationships, independence, and self-confidence for decades to come
.

And sometimes, what changes a lifetime is not a breakthrough treatment. It is simply being understood at the right time.

Inputs were used to explain what autism is, why many children in India continue to face delayed diagnosis, and how timely identification and early intervention can significantly improve communication, learning, social development, and long-term quality of life.

 

This is only for your information, kindly take the advice of your doctor for food, medicines, exercises and so on.   

 

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Friday, February 21, 2020

Increased risk of uterine cancer linked to 24 gene variants

The risk of uterine endometrial cancer is increased by 24 gene variants that code for different cellular processes such as cell growth and death, gene regulation, and estrogen metabolism, according to a comprehensive review published in the Journal of Medical Genetics.

Endometrial cancer

Endometrial cancer is the most common female cancer in industrialized countries. 1 in 35 American women will have this disease at some point in their lives, and the number of women dying of this cancer is increasing by 2% each year, since 2008. This is chiefly because more women are developing this cancer due to factors like a longer lifespan, a lower number of uterus removal surgeries for non-cancer reasons, and a marked increase in the incidence of obesity.

A woman who has most or all of these variants runs a risk of endometrial cancer that is two or three times as high as for a woman without them. The genetic risk, in our present state of knowledge, still makes up only a small number of these cancers, as low as 3% to 5%, mostly as a part of two inherited syndromes called Lynch syndrome and Cowden syndrome. In other words, lifestyle or unknown factors still account for the vast majority of these cases.

Endometrial cancer is of two types, type I, which is typically less aggressive and is picked up early, and type II, which is an insidious but very aggressive form, and is diagnosed later in its course. Type I is made up of endometrioid tumors, arising as a result of estrogen exposure which stimulates the growth of the endometrium. The outcome of this type is very favorable. On the other hand, type II includes different types of tumors that don’t depend on estrogen for their growth and are difficult to treat. The only known risk factor for this is age.

Gene variants and cancer risk

Earlier research has shown that genetic factors that increase the risk of endometrial cancer may be as slight as a change of one DNA nucleotide. These are known as single nucleotide polymorphisms (SNPs) and are common phenomena, with about 4-5 million of them to be found in the genome of any given individual. Such SNPs may occur unpredictably and uniquely or may have a pattern that is observable in many individuals.

SNPs don’t always cause disease or affect normal development. The problem comes when a gene or a regulatory element near a gene has an SNP that changes the way the gene functions because this then can potentially give rise to specific diseases.

Some prior studies have indicated that SNPs might cause some cases of endometrial cancer, but the exact extent of risk estimated showed wide variation. These studies were mostly done before the whole genome association studies were developed. There is no clear understanding of how an individual’s genetic makeup predisposes to endometrial cancer, and therefore no way to make a personalized cancer risk assessment.

The study findings

For this reason, the current study undertook to review all the available studies around this topic published in the period 2007 and 2018. The researchers found 149 studies relevant to this topic.
Their analysis showed 24 SNPs to be common either within or near six different genes. Five of these gene variants were significantly associated with endometrial cancer odds, namely, HNF1B, CYP19A1, SOX4, MYC, KLF, and EIF2AK. Another 19 variants showed a more significant occurrence than could be attributed to chance alone. However, with the SNP that has undergone the most intense study, there was no convincing evidence.

The limitations include the inclusion of mostly European ethnicities in most larger studies and the lack of reference genotypes for other racial origins. To obtain results that are more broadly applicable, more extensive and more inclusive studies need to be performed.

Also, endometrioid tumors make up only about a fifth of all endometrial cancers, which means much more extensive studies need to undertaken to detect gene variants that contribute significantly to the risk of non-endometrioid tumors. On the other hand, most existing studies have examined either endometrioid or mixed histology, even though non-endometrioid tumors carry a far worse prognosis and are responsible for most of the mortality from endometrial cancer. The lack of a standardized and useful classification system for endometrial tumors is also a top priority for future research.

Implications

If all these 24 are present, or most of them, the risk for endometrial cancer goes up two- to threefold. However, this is likely to be only the tip of the iceberg, because almost 200 SNPs have been found to increase the risk of breast cancer. On the other hand, these 24 might be useful, incorporated into a single risk index, to forecast a personalized risk prediction for individual women. This could allow targeted screening and prevention for women at the highest risk of endometrial cancer.

This is only for your information, kindly take the advice of your doctor for medicines, exercises and so on.     

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