Discover and read the best of Twitter Threads about #neurogenetics
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I've seen two patients in my training with ring chromosome 20 associated epilepsy, which inspired my recent talk at #CleClinicNeuro Peds Epilepsy GR, so I decided to distill it to a #neurogenetics #epilepsy #tweetorial 🤓 🧬
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what is a 💍 chromosome? Rather than having a full complement of rod-shaped chromosomes like this:
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affected individuals have at least one chromosome with circular formation, due to fusion of distal chromosome regions:
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Now attending the #ESHG2020 session on neuropsychiatry. As an #ActuallyAutistic person, this was very insightful. The research presented was also interesting, but what I gained most insight in was how autism is viewed and talked about. And it needs to change. (1/n)
Autism is still seen as a disease. While there are definitely impairments, in some people more than others, these are often impairments that can be improved by talking TO the autistic person in question about their individual needs. (2/n)
Some autistic people have bigger impairments, which are often due to intellectual disability. Again, communicate WITH the autistic person to facilitate them. Good to realize that some autistic people are non-verbal, but there are alternatives to verbal communication. (3/n)
