Neurodivergence

This is a blog post about my rare Single Nucleotide Variants that are shown to be potentially Pathogenic according to In-Silico Predictors. I focused only things only pertaining to the nervous system because of my interest in Developmental Neurogenomics as a neurodivergent with Dyslexia, Dyspraxia, ADHD.  I also have Ataxia which is a rare neurological condition that involves coordination problems like Dyspraxia does.  I used my Dante Lab data in Enlis Genome Personal.  I searched for variants with frequences of less than 0.1% and predicted Deleterious according to DANN. Then I used the Genome Aggregation Database (gnomAD) to check the allele frequencies, disease allele frequencies, and Combined Annotation Dependent Depletion (Scores). I consider only those with CADD scores of at least 20.   Then I checked to see In Silico Predictions at Varsome.com. I considered only variants that have Meta cores that show potential to be Pathogenic and show no sign of being be...

I read a Genome Wide Association Study about associative gene networks revealing novel candidates important for ADHD and dyslexia comorbidity.  I was very interested because of my being being a neurodivergent with Dyslexia, Dyspraxia, ADHD as well as Ataxia which is a rare neurological condition that involve problems with coordination like Dyspraxia does. Abstract Background Attention deficit hyperactivity disorder (ADHD) is commonly associated with developmental dyslexia (DD), which are both prevalent and complicated pediatric neurodevelopmental disorders that have a significant influence on children’s learning and development. Clinically, the comorbidity incidence of DD and ADHD is between 25 and 48%. Children with DD and ADHD may have more severe cognitive deficiencies, a poorer level of schooling, and a higher risk of social and emotional management disorders. Furthermore, patients with this comorbidity are frequently treated for a single condition in clinical settings, and the...

I read a Genome Wide Association Study about the identification of 27  risk loci in connection to Attention Deficit Hyperactivity Disorder (ADHD).  It greatly interested me because I am a neurodivergent with Dyslexia, Dyspraxia, ADHD.  I also have Ataxia which is a rare neurological condition that involves problems with coordination like Dyspraxia does. I was diagnosed as having inattentive type ADHD in my 30s. I believe that I have a combined type. I didn't get diagnosed as having ADHD in childhood because my other neurodivergent conditions were masking it. There was much more concern about my speech, auditory processing, and coordination problems.  I was spanked a lot in my special education childhood years, and so that influenced me to have adequate behavior.  Instead of running around in the classroom, I was running around in my head. I saved my hyperactivity for outside the classroom except for fidgeting and talking a lot in classroom. I  see ADHD trai...