Autism Diagnosis Interview Revised Vs Cytogeneticbases in Autism Spectrum Disorder

Autism diagnosis interview revised ADI-R is an experienced clinical interviewer questions a patient’s parent used to assess children as long as their mental age is above 2 years, 0 months. The ADI-R focuses on three functional domains: Communication, reciprocal social interactions and stereotyped behaviors and Interests. Following highly standardized procedures, the interviewer records and codes the informant’s responses. We aimed, in this report, to discuss the diagnostic validity of ADI-R in autism spectrum disorder(ASD) in comparison to genetic bases when well-known associated autism gene are implicated. In the present study we reported two ASD suspected patients with respectively 9p derivedsupernumeray chromosome marker and de novo interstitial deletion1p34.2clinical diagnosis of ASD are tested by ADI-R. In the two cases, potential ASD locus andwell known implicated genes as SLC1A1, SLC2A1and RIMS3are involved in the cytogenetic anomalies despite that ASD diagnosis were not retained by ADI-R First, we can ask about the ADI-R as an interview tool rather than an objective test. In fact ADI-R results could be influenced by parents, frequently in denial of the disease. In addition, it provides categorical results rather than scales or norms. Second,specific therapy as Ketogenic diet, taken in case of 1p34.2 deletion, could improve phenotype traits and change some parent answers. Last and not least, the variability, expression and penetrance of Copy number variations(CNV) represent a significant source of genetic diversity and contribute to disease susceptibility . ADS as the most common neurodevelopmental disorder in known to be associated to rare and more rare variants with variant phenotype effects.