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.