Secondary vs. Idiopathic Autism

Autism Spectrum Disorder (ASD) is an umbrella term used to describe a group of complex neurological disorders characterized by socio-communicative impairments and restricted/repetitive patterns of behavior. ASD is predominantly idiopathic or of unknown cause; however, in 4-20% of ASD cases a specific cause can be identified. Some of these secondary cases, syndromic autism, have defined somatic abnormalities and a recognized genetic cause, e.g., fragile X syndrome, tuberous sclerosis. Identification of syndromic autism usually depends on clinical suspicion and genome wide screening. Research into secondary cases is of importance because of the availability of possible treatment avenues targeting core pathological features of the condition, and our increased understanding into early risk factors.

In this Research Topic we will examine limitations in the present classification system, and how a broader view of the individual patient may help customize medical/treatment decisions. Manuscripts are invited that discuss how to assess a child for physical anomalies and the proper ways to record anthropometric measurements. We are also interested in what genetic and metabolic tests, or combination of them, offer the greatest diagnostic yield. The Research Topic will examine possible molecular and genetic mechanisms underlying cognitive and social development, and grapple with their putative relationships to intellectual disability and epilepsy. All etiologies linked to secondary autism will be considered appropriate contributions, including genetic, environmental, infectious, and metabolic disorders.