Cytogenetic analysis of autistic children with down syndrome features

Abstract

INTRODUCTION: Autism is a heterogeneous neurodevelopmental disorder that influences a child's ability to think, learn, communicate, and interact socially and possess behavioral problems. It has also been observed to be associated with several medical conditions, including certain chromosomal disorders like Down syndrome (DS). Several studies have shown autistic individuals with DS. The main objective of the present study is to screen for chromosomal abnormalities in autistic children with DS characteristics in the North Karnataka population, India. MATERIALS AND METHODS: Chromosome analysis of peripheral blood of four DS children with autistic characteristics was performed to examine the chromosomal abnormalities, which were confirmed by fluorescent in situ hybridization. RESULTS: Childhood Autism Rating Scale score was calculated initially to assess the severity of autism. All four cases were found to have autism with DS. Out of four cases, three (75%) were found to be trisomy 21 and 1 (25%) had a trisomy 21 mosaic condition. CONCLUSION: Our study confirms the chromosomal abnormality present in autistic children with DS characteristics and these findings will contribute in several ways to the diagnosis and treatment of the genetic cause of autism with other comorbidities or vice versa.

Keywords

• autism
• chromosome analysis
• down syndrome
• fluorescent in situ hybridization
• mosaicism