autism

Autism: genetic or not genetic?

Definition of Autism and Autism Spectrum Disorders (ASD) Autism is a neurodevelopmental disease, characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. In 2013, according to the criteria from the 5th version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the American Psychiatric Association has

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Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)

Recommended testing for this condition at Breda Genetics: Single gene testing based on exome sequencing (SYNGAP1 gene). If negative: upgrade to full exome data analysis. Summary SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. The condition caused

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