Several years ago, I postulated that autism was a neuronal migrational disorder. One way to test the significance of the hypothesis was to examine its predictive powers. Could other disorders with known neuronal migrational abnormalities exhibit autistic symptomatology? One of the disorders that I examined was Ehlers Danlos syndrome (EDS). The latter is a genetic disorder that provides for loose joints, fragile blood vessels and a stretchy/fragile skin.
People with EDS may have abnormal brain development because the connective tissue forming the nest for germinal cells giving rise to the cerebral cortex is affected. In this condition, neurons fail to migrate property to the cortex and sometimes get stuck in the white matter on their way to the cortical plate.
Ever since our initial blog there has been a lot of interest in this potential correlation. Our group just published an article that details the recent literature, explains mechanisms and, from our survey, provides evidence of comorbidity between EDS and autism spectrum disorder. Moreover, this patient population had a high prevalence of immune and endocrine related abnormalities. The presence of these comorbidities along with the known genetic defect, biochemistry, and pathology will allow researchers to examine causative pathways and offer new interventions. The abstract of the study reads as follows:
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune-and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune-and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001-0.020), as did endocrine-mediated symptoms (p < 0.001-0.045), irrespective of the group. Finally, the numbers of immune-and endocrine-mediated symptoms shared a strong interrelationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation.
For those interested in reviewing in more detailed the article, the same is readily available from Researchgate with free access. My wife, has written a blog going into more depths regarding EDS and the immune and endocrine symptoms.
Dear Manuel, et.al.
Having read another interesting study of you all a brief critique is offered.
The cohort sizes are sufficient, however, the diagnostic dilemma again confounds such studies. We especially senior published aerospace engineers due to our pervious control systems education, coordinating with neuroscientists and with others equally qualified must establish some optimum biomarkers. Following such diagnoses with testing, the various uncertain statistical reduction methods must also be optimized.
Importantly, the various intracranial imaging methods data, coordinated with other data, then applied with the updated spatiotemporal EVENTS method will optimize this research.
Best of luck to all. Joe
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We hope for this to be the first of a series of studies. The known genetics, biochemistry and pathology should allow us to draw some useful conclusions. Thanks for the comment.
Some of the patients with genetic disorders/syndromic conditions that cause autism don’t always have it. Like 80% of those with rett have autism but the other 20%? Fragile x is 50-75% but the remainder? How have they managed to avoid it? Some even have migration errors but only have epilepsy but relatively few psychiatrist symptoms.
And neuron migration can lead to several disorders. There is evidence schizophrenia (mainly non-paranoid) has its roots also in neuron migration, but the symptoms appear later since the lesioned/abnormal parts of the brain on their own are not causing problems but once they “link up” in adolescence/early adulthood they cause a cascade of symptoms all unfolding.
Autism is specific enough despite the heterogenity that there is something in common. The neuronal migration leading to it must be relatively specific otherwise we would just have random developmental disorders with nothing in common if it were all just migration.
There are rules but exceptions and questions further raised by all this information.
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Fascinating. I’m a middle-aged guy with aspergers and what I suspect is mild Ehlers Danos and came by this blog after searching to find out if there was a co-morbidity. I’ve got a full review of my condition by a specialist next month so I shall raise this. Additionally, my niece is going in to be tested for ASD and she has abnormally flexible joints at age 12 (and gender issues). I’m a fan of neuroscience and an amateur theorist, with my personal interest being in neurotheology. I tend to think that the ‘unitary sensation’ is, in essence, peak survival instinct. The brain takes a person in profound anxiety, and it turns all of that off by shutting down the amygdala and the parietal lobe. Presto, the person loses their sense of place and time, hears their internal monologue as a third-person disconnected voice (God, if you will) and gain a sense of universal ‘acceptance’ by seeing and appreciating their own ideas as disconnected third-part concepts. Even in less-stressful periods, neuroplasticity and the comfort of a familiar thought pattern SUPPORTED by the pack ‘strength of numbers’, makes us feel secure.Cognitive dissonance then is a profound loss of security in an idea which in turn is key to their personal security. With my condition, I largely (but obviously not always) divorced myself from belief systems (except maybe this one!) when I was a kid. So trying to understand why people allowed passion to trump reason constantly (a cause of much of my social conflict with neurotypical people) — something I didn’t even realize was the case until I was in my twenties — gave me MY sense of security. I shall keep an eye out for more of your work. Cheers.
Can you do me a favor and talk to my wife (send her the same text)? She is very interested in Ehlers-Danlos, hypermobility and autism. Her email is scienceoveracuppa@gmail. com. Also, you may use the search option at WordPress and read several other blogs on the subject. I appreciate your thoughtful comment.
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