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ASD Genetic Study


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 .

Selection criteria: The study will recruit 100 idiopathic ASD children with age between 2.6- 15 years, who have been diagnosed as being on the spectrum using DSM V criteria and have a normal karyotype at 500 band resolution.

Blood samples of both parents will also be collected at the time of recruitment to carry out inheritance analysis in cases where a genetic cause has been identified.

All male child’s samples will be analysed for CGG repeats in the FMR1 gene to rule out Fragile X, before being analysed with microarray.

In cases where microarray 750k analysis yields no results, the DNA may be analysed for single nucleotide variants (SNV) using whole-exome sequencing.

The Hard copy of the reports will be provided to the child’s family and the referring doctor.

All analysis will be conducted free of cost, under the funding guidelines set out by the


In cases where the karyotype had not been carried out initially, the study team will carry out karyotype analysis at a discounted rate of Rs. 2000/- INR.

For clinical query please contact:

Dr Deepika Jain

([email protected])

For query related to Genetic Analysis Please contact study PI

Dr Frenny Sheth

([email protected])
Or Study CO-I

Dr Harsh Sheth

([email protected])

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Professional of the month. Developmental Paediatrician

Professional Of the Month(05/2019) – Dr Deepika Jain

Professional of the month – Developmental Paediatrician, Shishu Child Development & Early Intervention Centre Ahmedabad, Gujarat, India

Dr Deepika Jain(MD, Dped, DNB, PGDDN)

Dr Jain’s educational background is vast. She is an MD in Paediatrics where she placed first in her Diploma University in Paediatrics. She then did her DNB in Paediatrics and went on to specialize in Developmental Paediatrics doing PGDDN (PG Diploma in Develop-mental Neurology). She is now exclusively working in the field of Developmental Paediatrics.

Dr Jain is extensively trained in doing developmental assessments, right form DASII for new-borns & toddlers, Hammersmith for neurodevelopmental assessments to International scales like VINELAND- II- III, sensory profiles, & screening and confirmatory tools for ASD & ADHD. She is trained for tools needed for diagnosis and planning of learning disabilities namely DEST-2, DSJ- J, WRAT-5. She is currently undergo-ing ADOS-2 training and would be completing her 3Di training for ASD in the current year.

Read complete issue here…

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