Shishu Child Development & Early Intervention Centre

ASD GENETIC STUDY

Completed

Autism Spectrum Disorder (ASD) is one of the most common Developmental Disorders with a prevalence of (1:68) in India.

Genetic causes like fragile x, Rett’s syndrome, chromosome 15q11-q13 duplication and others are being increasingly being identified in many children with ASD.

Identification of the genetic cause can help in determining prognosis for the child, management and counselling for subsequent pregnancies.

However, ASD genetics are currently not studied systematically in India leading to a low diagnostic rate.

Also the high cost of the genetic tools (around Rs 20,000 for microarray, 25-28,000/- Rs for whole-exome sequencing makes it difficult to carry out the tests in many of the kids.

Aim: The study aims to identify genetic causes of ASD through the utility of microarray and whole-exome sequencing .

Study Conducted under:

Dr Deepika Jain

Dr Frenny Sheth

Dr Harsh Sheth