Proper patient management and genetic testing in diagnosis of Autism Spectrum Disorder

Background and Aim: Autism is a neurodevelopmental disorder with various genetic factors contributing to its etiology. Proper clinical management of children with autism and their families is of outmost importance. Currently, however, there is no comprehensive protocol for the diagnosis of autism and proper patient management in Iran. Additionally, the COVID-۱۹ pandemic has disrupted many lives across the world with a direct impact on autistic children and their families who are coping with elevated levels of already high family stress as a result of lockdown situation, major disruptions in various services, and the uncertainty of what comes next. The aim of this study is to investigate possible genetic/molecular cause of autism in a female child by completing her medical records, genetic counseling, karyotyping, fragile-X syndrome testing, chromosome microarray (CMA), and whole-exome sequencing (WES).Methods: The autistic girl in this study suffers from deficits in communication and speech, intellectual disability, developmental delay, and hyperactivity disorder. After genetic counseling of the patient's family and drawing pedigree, blood samples were taken for karyotype test and gDNA extraction. ThegDNA was then used to check the possibility of FXS and known risk CNVs as well as WES analysis. Validation of the candidate risk mutation from WES data was done by Sanger sequencing.Results: In the first step, the selected child's medical record was completed. There were no reliable pathologic CNVs in the CMA results. In contrast, the results of the WES led to the detection of a novel de-novo heterozygote mutation in a critical autism-risk gene (unpublished data).Conclusion: Genetic diagnosis of autism is critical for the affected child and her family by reducing the stress and confusion of an unknown situation. It also provides a possibility for targeted treatment. Our study has implications for proper clinical management of an autistic child. Knowing the genetic cause of autism in the affected child provides the parents with a sense of clarity for their child's disorder and the role of heredity (in this case, not significant), and it also gives them hope for the possibility of a targeted future treatment.

Keywords:

Autism , Patient Management , Genetic Counseling , Karyotyping , Fragile-X Syndrome , Chromosome Micro-array , Whole-exome Sequencing.