Abstract
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 inter-relationship (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.
Highlights
Ehlers-Danlos syndrome (EDS) is a group of phenotypically-related disorders subtyped according to variations in underlying genetic pathology, primary symptom severity, and secondary symptom associations
Women with autism spectrum disorder (ASD) and ASD/Generalized joint hypermobility (GJH) did not differ in the presence of one or more immune-mediated symptoms (χ2 = 1.162, p = 0.281), ASD women with GJH (ASD/GJH) women were, more likely to report multiple symptoms (t = −3.860, df = 30.981, p = 0.001), an effect that differed by age (W = 534.5–563, p = 0.009–0.017) (Figure 2A)
This research supports a growing body of literature indicating that immune-mediated disorders are a common comorbid feature in Hypermobile EDS (hEDS) and GJH
Summary
Ehlers-Danlos syndrome (EDS) is a group of phenotypically-related disorders subtyped according to variations in underlying genetic pathology, primary symptom severity, and secondary symptom associations. All of these conditions are typified by deficits in collagen production and maintenance, leading to structural changes within the connective tissues of the body. These changes are most evident within the joints and skin, many other systems can be affected. Generalized joint hypermobility (GJH) is a major feature of Hypermobile EDS (hEDS) and other connective tissue disorders.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
