A Possible Mosaic ARID1A Mutation

When I did my first genome sequence, Dante's standard 30x product, I found an interesting variant in the ARID1A gene. The variant I found is novel and predicted to be pathogenic by most of the algorithms. Pathogenic mutations in ARIAD1A cause Coffin Siris Syndrome, rare developmental disorder. This condition is associated with Autism and has … Continue reading A Possible Mosaic ARID1A Mutation

Discovering De Novo Variants

It's been ages since my last post. I got sucked into the world of Harry Potter fan fiction and since I was on furlough I didn't have much to draw my attention away from it. It definitely became a perseverative activity that wasn't terribly functional. However I am now back at work and this has … Continue reading Discovering De Novo Variants

Mild Is Hard

Mild is having people think because you heard them in one situation, you should be able to hear them in all situations. Mild is having to endure people laughing over your one word responses to social questions. Mild is not having every trait of Autism and having people use that as a reason to say … Continue reading Mild Is Hard

ICD-11 Diagnostic Guidelines

In June 2018 the ICD-11 was published. Most sources will point you towards the Mortality and Morbidity Linearisation. This platform lists out all of the different conditions and symptoms with an associated alphanumerical code. Many of the conditions have descriptions and list out synonyms and narrower terms. These descriptions are useful for gaining a high … Continue reading ICD-11 Diagnostic Guidelines

Pure and Complex Autism

Autism is a very broad disorder including a large range of people from highly intelligent, articulate but socially awkward individuals to non verbal, intellectually disabled individuals. Under the old diagnostic manuals we had vocabulary to distinguish different groups and this was useful because the needs and expectations of these different groups are different. The articulate … Continue reading Pure and Complex Autism