ASD variants - (mis and missed) diagnoses. Calcium ion channel dysfunctions Cav1.1, 1.2, 1.3 and 1.4
This post serves to introduce some ideas relevant to a post that is will shortly arrive on calcium ion channel dysfunctions (Cav1.1, 1.2, 1.3 and 1.4). As we have seen, nearly all behavioral and psychiatric disorders are just diagnosed based on observation. Only in very rare cases is the underlying biological problem diagnosed. So it is fair to say that these are not accurate medical diagnoses. Under the wide umbrella term of ASD are likely hundreds of thousands of discrete variants, since ASD generally results from the combination of multiple hits/dysfunctions. A single one of these dysfunctions is usually not enough to trigger autism, but some may indeed trigger something else noticeable. A small number of individual hits, like Fragile-X and Retts can trigger autism, but these are the exception. Mis and Missed diagnoses One reader of this blog received a diagnosis for his child as “late onset regressive autism or possible childhood disintegrative dis...