Unlocking The Genetics Of Autism — Early Detection And Tailored Support

(Dr. Talat Khan, Doctor-in-charge, Medical Genetics, Metropolis Healthcare Limited)

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder that affects behaviour and social communication. The severity of ASD is different significantly among various individuals. Research indicates that the prevalence of autism has been ever increasing, with the Centres for Disease Control and Prevention (CDC) reporting that 1 in 59 children in the United States.

According to a study published in 2021 IJP In India the prevalence estimated is around 1 in 68 children; with a higher prevalence in females compared to males (3:1). The true prevalence may be higher due to underreporting of diagnosed cases and the absence of widespread screening. Early identification and intervention are crucial for enhancing outcomes for children with ASD. Increasing awareness and implementing standardised screening protocols are vital steps in tackling the rising prevalence of ASD both in India and worldwide.

ALSO READ: World Autism Awareness Day 2025 — Know History, Significance, Theme, And More About This Day

Early Signs Of ASD:

ASD typically becomes noticeable before the age of 3, with early signs including difficulty in making eye contact, limited social interactions and repetitive behaviours spinning objects, flicking pages etc. By the age of 2, many children with ASD exhibits language delays, often accompanied by behavioural issues like meltdowns caused by changes in routine or sensitivity to sounds and other stimuli. Many parents may not be able to identify them until their child misses key social milestones. This delay in recognition is often caused by a lack of awareness, societal stigma, and a limited understanding of developmental disorders. Genetic counselling should be offered to all families having individuals with ASD. This includes a clinical assessment before testing, where potential outcomes and diagnostic possibilities are to be discussed. After the genetic testing, individuals are categorised into two 2 categories those with an identifiable cause for their ASD and those without.

Role Of Genetics In ASD:

Genetic factors play a significant role in the development of ASD, with over 700 genes associated with the condition. Genetic testing methods like chromosomal microarray (CMA) and next-generation sequencing (NGS) can help in identifying genetic causes, inform early intervention, predict clinical outcomes, and guide reproductive decisions. The exact cause of autism is not very clear, but 30–40% of children with ASD have an identifiable genetic cause.

Children with syndromic autism may show additional features, such as congenital birth defects or uncommon physical traits, while those with non-syndromic autism typically do not. To identify genetic causes of ASD, several tests are recommended like Fragile X Testing especially for all male children.

Other test is MECP2 Gene Testing in which studies reveal that some females with ASD have MECP2 mutations. Chromosomal Microarray is helpful in detecting deletions or duplications which are prevalent in children with autism. Also, Whole Exome Sequencing Identifies gene changes linked to neurological or metabolic disorders. An accurate diagnosis of ASD is essential before genetic testing, along with a formal audiogram to rule out hearing loss.

Therapeutic Approaches:

Early detection of ASD is vital for timely intervention, using screening tools like the Modified Checklist for Autism in Toddlers (M-CHAT), Trivandrum Autism Behavioural Checklist (TABC), and the Social Communication Questionnaire (SCQ). The diagnosis is based on established guidelines like the DSM-5 and tools such as the Autism Diagnostic Observation Schedule (ADOS) and the Indian Scale for the Assessment of Autism (ISAA). Effective intervention for ASD requires a comprehensive, multidisciplinary approach, involving developmental paediatricians, psychologists, and therapists. Evidence-based methods such as Naturalistic Developmental Behavioural Interventions (NDBIs), Applied Behaviour Analysis (ABA), and parent-mediated treatments are crucial for improving outcomes. Additionally, therapies like speech-language therapy, motor therapy, and sensory integration therapy address the diverse needs of individuals with ASD.

The 2025 observance, themed "Advancing Neurodiversity and the UN Sustainable Development Goals (SDGs)," emphasises the connection between neurodiversity and global sustainability, highlighting how inclusive policies can foster positive change for autistic individuals worldwide. A coordinated, multidisciplinary approach involving paediatricians, psychologists, and therapists is essential for effective management. This comprehensive strategy helps address the diverse needs of children with ASD and supports long-term outcomes. Medical treatments should complement these behavioural strategies, ensuring a holistic approach to managing ASD. Early and targeted intervention is key to enhancing skills and supporting long-term development in children with ASD, ultimately improving their quality of life and supporting their families.

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]

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