Medical Investigations in Autism Spectrum Disorders. A critical review of the everyday practice
Author(s):
Elena Martinez-Cayuelas*, Sonia Milkova-Ivanova, Beatriz Moreno-Vinues, Maria Rodrigo-Moreno, Rebeca Losada-Del Pozo and Teresa Gavela-Perez
Objectives: To evaluate the outcome of medical examination in a population of children with autism spectrum disorders (ASD) and to describe its usefulness.
Study design: In this cross-sectional study, we evaluated the records of 122 patients with ASD to analyze their clinical course, medical investigation and outcomes.
Results: A total of 122 patients with ASD were included (0-18 years). Regarding the additional investigations, none of them has proved to have a high diagnostic yield in the absence of specific clinical features except from next generation sequencing (NGS), which showed a higher efficiency in comparison with the other genetic tests performed.
Conclusions: Clinical context should be the main determining factor for the execution of additional medical investigations in children with diagnosis of ASD. Nevertheless, given its high yield, NGS would be indicated from the beginning in children with ASD as part of the etiological diagnosis.