De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

BMC Medical Genetics

Table 1 Domains and measures used in the current study

Domain	*Measure*
Genetic testing
	WES
	CMA
Clinical assessment
Neurological examination	Clinical genetics; height, weight, dysmorphic features
Autism spectrum disorder (ASD) traits	ADOS
	ADI-R
Cognitive and adaptive behavior skills	Leiter-R
	Vineland Adaptive Behavior Scale
Sensory reactivity	Sensory Profile
	Sensory Over-Responsivity Scale
Brain development
Structural Imaging	MRI

Abbreviations: CMA = chromosomal microarray analysis; WES = whole exome sequencing; ADOS = Autism Diagnostic Observation Schedule; ADI-R = Autism Diagnostic Interview Revised; MRI = Magnetic Resonance Imaging.

ISSN: 1471-2350