posted on Nov, 1 2017 @ 06:57 PM
a reply to: grey580
"Through exome sequencing, Sanders and his colleagues found that genetic variants in the gene SCN2A are linked with autism. Based on that discovery,
they were able to uncover the “Rosetta Stone” of autism pathology: the particular genetic defects in an individual neuronal protein that lead to
either epilepsy or autism, depending on how the mutations worked on the protein.''
Hey this is blooming interesting!
Thank you for sharing this!
My son developed epilepsy last year after a horrid few years of behavioural difficulties, I saw it as a sign he was on the spectrum. Preceding his
first seizure he was constantly licking his hand and rubbing his face in a sort of absent minded way. The only epilepsy instance we have in the family
that we know of is my 4th great Aunt who died at 19 in an asylum.
When we spoke to his neurologist, he recommended that my boy be properly tested for ASD, he worked under a well known researcher here in Australia who
investigated links between ASD and Epilepsy.
Sure enough - in September after his pediatrician gave the go ahead for proper assessment - he's got Autism!
Which is great (finally having a diagnosis so we can help him better) but I am still quite angry that in the preceding years his psychologists
diagnosed him with separation anxiety and then Generalized Anxiety Disorder... despite evidence of sensory processing issues, poor motor skills, poor
cognition (except he's pretty good at maths, though his memory is horrid), speech issues, and poor socialization/intergration.
So - I will look into this with interest. I did think there was a combination of genetics (either by chance inherited after a few generations or a
mutation) and environmental in utero. I weaned off a high dose of venlafaxine when I learned I was pregnant, I quit smoking by 4 months gestation and
I had high stress and anxiety (and a good ol panic attack) for the duration.