Autism [944 genes]

Autism is a neurodevelopmental disorder that begins in early childhood. It is characterized by poor social interaction and communication accompanied by restricted and repetitive behaviors. The presentation is very heterogeneous between individuals, and even during the clinical course of the same individual. The diagnosis is clinical based on clinical observation and the patient’s history.

The disease affects approximately 1 in 60 children.

This service collects the genes with high and moderate evidence related to autism to date. Therefore, in those cases in which a clinical diagnosis has been reached, it would be advisable to study the genes best related to the phenotype of interest, in order to assess a possible genetic origin of the condition.

The benefits derived from a genetic diagnosis in this context are especially aimed at family genetic counseling.

Service indicated when a patient has been clinically diagnosed with an autism spectrum disorder, in order to assess a possible genetic origin of the disease.