A complex approach in the diagnostics of children with ASD. FMR1 gene mutation clinical case

Abstract

The importance of developing a model of initial support for a child with suspicion of an autism spectrum disorder is underlined. The main principles of the diagnostic examination, which are based on the interaction between specialists of various profiles, are listed. The primary importance of strict compliance with the diagnostic protocol, which allows fully describe the disease pattern is substantiated. The model is illustrated by a critical analysis of the clinical case in which the principles of the child’s examination were not followed.

Keywords

• autism spectrum disorders
• autism
• diagnostic protocol
• multidisciplinary approach
• FMR1 gene