Genes and environment and regression

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16276

Interesting article: "We report eight children with de novo pathogenic DNA variants in chromatin-related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B." Chromatin is a chemical soup of DNA and proteins that condense DNA so it can fit into the cell nucleus. A sort of biological suitcase if you like.

So: "All children experienced infection or vaccine-provoked neuroregression or abrupt-onset neuropsychiatric syndromes. Most had delayed development (n = 6) before the first regression, and four had immune deficiency or autoimmunity (n = 4). At a mean age of 4 years 2 months (range 1–8 years), symptoms included infection-provoked autistic/language regression (n = 6), cognitive decline (n = 3), gait deterioration (n = 3), or abrupt-onset anxiety, obsessive-compulsive disorder, and/or tics (n = 5)."

The authors talk about how chromatin dysregulation may very well play a role in some "autistic regression and abrupt-onset neuropsychiatric syndromes". That infection and vaccine-provoked neuroregression is mentioned is important and illustrates how natural and 'acquired' infection (yes, a vaccine is all about provoking the immune system into formulating a response to a target disease) can impact on development, behaviour and cognition. I might add that this is not the only route from such exposures to behavioural consequences as per the work on mitochondrial issues e.g. Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2009.03488.x

Implications? As I've said before, regression in previously acquired skills is not a typical part of development. When it occurs, the onus is on medical professionals to seek answers and conduct the appropriate examinations to determine potential causes and where possible, mitigate them. Again in the context of autism, there are examples of how to do this e.g. Developmental regression and mitochondrial dysfunction in a child with autism https://pmc.ncbi.nlm.nih.gov/articles/PMC2536523/ bearing in mind the need to keep an open mind. And minus any hype.