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Showing posts from December, 2017

Childhood Disintegrative Disorder (CDD) – Not a Useful Diagnosis?

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Today’s post is about CDD (Childhood Disintegrative Disorder) also known as Heller’s Syndrome, which sounds rather nicer. It was first identified in 1908 by an Austrian, Theodore Heller . Later on came Hans Asperger, another Austrian and Leo Kanner who was born in what was the Austro-Hungarian Empire. Why were Austrians so interested in Autism? I started this post expecting that I would naturally be a supporter of the continued use of CDD as a diagnosis, I do firmly support calling an Aspie an Aspie after all.  CDD is a diagnosis used for late onset severe regressive autism, which has fast onset, making it scary for all concerned. Unlike many syndromes, Rett for example, Heller’s syndrome is not a defined genetic condition, it is just another observational diagnosis. This probably explains why it has been folded into the ASD diagnosis in the current DSM5, which sadly was also the case with Asperger’s. Since it is not really a syndrome I will call it by its other name CDD (Childhood...

Turner Syndrome, Estradiol and Autism-lessons from the X Chromosome

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This post is best read if you have reviewed the earlier ones regarding the estradiol/testosterone disturbances in autism and how they govern the RORα “switch” that then triggers a torrent of other dysfunctions. So the hormonal disturbance, if present, is a key point at which to make a potent intervention.  The Purkinje-RORa-Estradiol-Neuroligin-KCC2 axis in Autism   Beauty is in the eye of the beholder In the mass media it is now popular to dismiss the fact that autism is far more prevalent on boys than girls. In the scientific literature, fortunately, they stick to the facts and much is written about the sex differences in autism. As we have seen in earlier posts, females have some natural defences against autism. They have two X chromosomes and of course they have those all-important neuroprotective female hormones (estrogen/estradiol, progesterone etc.). In effect, the more female you are, the more protection you have against idiopathic autism and any X-chromosome linked si...

Cognitive Loss/Impaired Sensory Gating from HCN Channels - Recovered by PDE4 Inhibition or an α2A Receptor Agonist

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Today we have a complex dysfunction, but we have a plausible understanding of the detailed biological underpinnings and several therapeutic options. It is relevant to people with autism who have impaired sensory gating (they find noises like a clock ticking annoying), and perhaps those who struggle with complex thought. It is very likely to be disturbed in some people with ADHD and many with schizophrenia. Trouble in the Pre-Frontal Cortex For a recap on sensory gating, here is an earlier post:- Sensory Gating in Autism, Particularly Asperger's Today’s dysfunction relates to HCN channels located on those tiny dendritic spines in a part of the brain called the pre-frontal cortex. These are a type of voltage gated potassium channel found in your brain and heart, there are 4 types, it looks to me that HCN2 is the key one today. The pre-frontal cortex (PFC) is seen as the part of the brain most affected by mental illness (schizophrenia, bipolar, ADHD etc.), although medicine’s current...

Trajectories of Intellectual Development in Autism

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Tracking IQ over a 3-4 year period, in 4 sub-groups of 2-8 year olds Today’s post is about trajectories of intellectual development in autism, which I have to come to believe is the most important aspect of autism and certainly helps you understand where your type of autism fits in. As regular readers may recall average IQ = 100 and the IQ scale fits a bell-curve, so most (68%) people have an IQ within the range 85-115.   2.1% of the general population have an IQ less than 70, which is the cut off for a diagnosis of MR/ID (Intellectual Disability). There are special tests to measure IQ in non-verbal people and IQ testing is matched to your age; so the older a child gets the more there is expected from them in the test. I do wonder how you can fairly test the IQ of a 2 year old with severe autism. So I think some testing in very young children may substantially underestimate IQ.  A study was recently published taking data from the Autism Phenome Project run by UC Davies. What w...