Projection of Need for Pathogenetic Testing for Mitochondrial Dysfunction in Autistic Spectrum Disorder (ASD) Children of India

Chowdhary, Rashmi; Khan, Roji; Bhatt, Girish; Malik, Yash; Malik, Rajesh; Goel, Sudhir

doi:10.22038/ijp.2016.6893

Projection of Need for Pathogenetic Testing for Mitochondrial Dysfunction in Autistic Spectrum Disorder (ASD) Children of India

Authors

Rashmi Chowdhary ¹

Roji Khan ²

Girish Bhatt ³

Yash Malik ⁴

Rajesh Malik ⁵

Sudhir Goel ⁶

¹ Assistant Professor Biochemistry AIIMS Bhopal, India.

² Junior Research Fellow, Department of Biochemistry, AIIMS Bhopal, India.

³ Assistant Professor, Department of Pediatrics, AIIMS Bhopal, India.

⁴ MBBS Student, AIIMS Bhopal, India.

⁵ Professor, Head, Department of Radiodiagnosis, AIIMS Bhopal, India.

⁶ Professor, Head, Department of Biochemistry, AIIMS Bhopal, India.

10.22038/ijp.2016.6893

Abstract

Background
Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder. There is a large quantity of evidence which point towards a positive correlation between Autism and Mitochondrial disorders (MD). In addition to that, several published reports, indicate that people with neurological disorders exhibit pathological signs of mitochondrial disorders and vice versa. Screening for underlying MD is essential in ASD as the children (clinically) appear and behave the same way in the both instances; however, their management is very different.
Materials and Methods
The current study examined biochemical, neuroimaging and genotyping technique in ASD patients to see which technique would be easier to interpret and indicate underlying MD. The analysis of the screening was based on several objectives like clinical, histological, biochemical, molecular, neuroimaging and enzymatic findings.
Results
We found out that pathogenetic analysis based on clinical and genotyping gives spontaneous results to analyse the possibility of MD in ASD patients.
Conclusion
It does not necessarily require blood samples from ASD patients to accomplish this type of analysis.

Keywords

Autistic Spectrum Disorder

Children

Mitochondrial DNA