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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:
For query related to Genetic Analysis Please contact study PI
Or Study CO-I
Paediatricians and Therapists with a special interest in Child Development.
Coordinator / Contact:
Dr Deepika Jain
■ International tool for monitoring and supporting child development 0-42 months
■ Standardised on the Indian population
■ Validated against the Bayley Scale of Infant Development
■ Published in Lancet Global Health (2018)
■ Used in over 25 countries
■ Supported by UNICEF (Used in their programs)
■ Easy to use, takes 15-20 mins and available in English/Hindi/Gujarati
■ The tool is FREE to use by trained professionals
Paper and Poster presentation in 3rd International Developmental Pediatrics Conference – Manila, Philippines.
Pretchel’s General Movement Assessment course to diagnose children at risk for Cerebral palsy in preterm and early term age