Approximately 1% children have autism worldwide with proportionately more males being affected and higher risk of recurrence amongst the siblings noted
Representational Image’. AP
I was on the road and browsing through my mobile for any new WhatsApp messages…..knock…knock…I raised my head and saw a kid of about 8-10 years old reaching across her car to my car window!! Her mother trying to restrain and school her but in vain. One could practically reach and honk the adjacent car! Signal still red, 45 seconds to go. The kid left a lasting image on me, shouting loud, was repeatedly reaching out, knocking my car pane, pulling her hair and clapping, not letting her mother close the window. She reminded me of Anjali!! The much loved and appreciated character from movie ‘Anjali’.
Movies like Barfi, Taare Zameen Par, Hichki, My Name is Khan have created much awareness and acceptance about autism in our society, but a lot, still needs to be done in the field of management, enabling and empowering such individuals in regular societal framework. “Inclusion in the Workplace: Challenges and Opportunities in a Post-Pandemic World” aptly the theme of world autism day 2022.
Autism, often referred to as autism spectrum disorder (ASD) is characterized by a spectrum of impairments in communication and behavioural domain mainly affecting language and social interaction domain, along with stereotypical patterns of activities. Impairments of social and behavioural adjustments are key features of ASD.
Approximately 1% children have autism worldwide with proportionately more males being affected and higher risk of recurrence amongst the siblings noted. Research regarding causes of autism and how it impacts people with ASD keeps pouring in. A specific genetic diagnosis is reached in only a minority of children despite extensive investigations. Sometimes a typical pattern of affected person in the family across generations or higher occurrence in a particular gender could be the clue, occasionally a medical geneticist (a paediatrician or physician trained in genetics) could diagnose just by a gestalt!
ASD features are a common aspect of many recurrent chromosomal microdeletion/microduplication disorders. A thorough evaluation of the person affected with a detailed enquiry into three generations of family tree is important. Symptoms ranging from mild to severe manifestations may appear between one to three years. Unless suspected and professional consultation are taken, diagnosis may be difficult or missed. ASD individuals have difficulty in developing and maintaining friendships, and communicating with colleagues; behavioural differences may be noted in school or at workplace.
With recent advances in different testing techniques in the field of Molecular Genetics like next generation sequencing, more underlying genetic causes are being discovered. Yet, studies indicate various coexisting genetic and environmental factors influencing autism, supporting a multifactorial causation theory in most cases, though pure genetic aetiology like Fragile X, Tuberous sclerosis, Phenylketonuria, Rett etc. is seen in a cohort of autism. In these situations, particular management plan and knowing the exact risk of recurrence in the next pregnancy and also genetic testing to diagnose the same condition beforehand in pregnancy is possible. . This will enable families to better prepare themselves for a new reality.
Once considered a serious handicap, autism is now being recognized as a condition with normal range intelligence with better outcome when moderated by early diagnosis and prompt institution of appropriate educational, behavioural therapy and individualised treatment. Early diagnosis and initiation of management is crucial for more favourable outcome. Stressing through evaluation of any suspected symptoms at an early age is pertinent for better results.
The thumping on the car window had stopped. The adjacent car was speeding away, the kid waving at me or I thought so. I reciprocated much to my amusement only to be cut short by the incessant honking of a rear vehicle. The signal is no longer red, perhaps the municipality must speed up the Metro projects huh?
The author is the associate director of clinical genomics at SRL diagnostics. Views expressed are personal.
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