Autistic Pride Day – 18 June 2022

As per recent data ASD is reported in 1:59 children. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and the presence of restricted, repetitive patterns of behavior, interests, or activities present during early periods of development that negatively impact social, occupational, or other domains.

Autism affects 2 key areas:

• Defective Social interactions and social communication skills
• Restricted, repetitive patterns of behavior, interests, or activities

These symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. However, autism and intellectual disability can coexist together

The average age of diagnosis is 5 years; however, early warning signs can be observed in infancy.

Early intervention based on the principles of ABA can improve the functioning of chil- dren with ASD by addressing behavioral deficits and excesses.

• Interventions based on principles of applied behavior analysis (ABA) can effectively reduce social skills deficits following training.
• Approaches to language development and communication based on ABA incorporate a functional approach to language and can effectively increase verbal and nonverbal communication skills.

The cause of ASD is unknown, but research supports genetic and environmental factors.

Common genetic causes for autism include Fragile X syndrome, Tuberous sclerosis and 22q11 deletion. Hence, Chromosomal microarray and Fragile X screening are the thefirst tier test in cases of autism.

In the absence of specific genetic test results, only recurrence risk estimates can be made; the recurrence rate with one previously affected sibling is around 10–15%. If there are two affected siblings in the family, the estimated rates predicted by a theoretical model are around 50% and 12% in subsequent newborn boys and girls, respectively . The recurrence rate varies as a function of the gender of the previously affected sibling, with higher recurrence rates in the case of a female affected sibling

The increasing prevalence of ASD and substantial economic and collateral costs at the individual, familial, and societal levels necessitate attention to interventions.

Dr. Seema Thakur
MS (Obs &Gynae), DM (Med Genetics)
Senior Consultant Genetics and Fetal Diagnosis