Novel clinical, molecular and bioinformatics insights into the genetic background of autism.

ABSTRACT:

Background

Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the ability to predict clinical outcomes.

Method

Novel Whole Exome Sequencing data from children (n = 33) with ASD were collected along with extended cognitive and linguistic assessments. A machine learning methodology and a literature-based approach took into consideration known effects of genetic variation on the translated proteins, linking them with specific ASD clinical manifestations, namely non-verbal IQ, memory, attention and o

SUBMITTER: Talli I 

PROVIDER: S-EPMC9482726 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature