title: Genetic Studies in Autism.
abstract: Autism is a complex neurodevelopmental disorder, which has captured the attention of not only pediatricians but also the parents. From the symptoms until the final diagnosis, parents undergo a diagnostic odyssey that involves a battery of tests without much yield. This has led to an increase in the referrals to the clinical geneticists to rule out the possible genetic etiology that can have implications for the parents for future pregnancy. This chapter focuses on the various genetic causes and their appropriate application in the evaluation of a child with Autism Spectrum Disorders (ASDs).
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
authors.forename: Shruthi
authors.initials: S
authors.lastname: Sudarshan
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. neerja17aiims@gmail.com.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D010290:Parents; D012106:Research
keywords: Autism; Autism spectrum disorders; Chromosomal microarray; Copy number variations; Genetics; Next generation sequencing