A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility

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Casanova, M., Sharp, J. L., Edelson, S., Kelly, D., & Casanova, M. (2018). A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility. Behavioral Sciences, 8(3), 35. https://doi.org/10.3390/bs8030035

Publication date: 17 Mar 2018 Added to AutiHub: 14 Sep 2026 Type: Article Article language: English
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Authors

Publication authors
5
Publication authors identified as autistic
2 / 5 (40.0%)
  1. Manuel Casanova *
  2. Julia L. Sharp
  3. Stephen Edelson
  4. Desmond Kelly
  5. Manuel Casanova *

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.

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Cited references
96
With a DOI
84
Without a DOI, from raw bibliography text
11
0 / 96 (0.0%) cited references include at least one author identified as autistic.
References with data to complete
7 / 96 (7.3%)
References with detected author names
89 / 96 (92.7%)
Without detected author names
7
Without a structured title
7
Without a stable identifier
8
References with raw author names still to review
7
References with external metadata lookup issues
0
These indicators apply to cited references displayed on this page, after technical duplicates have been merged. A reference without a DOI can still support author statistics when a title and author names are available.
Author names detected in the cited bibliography
532
From DOI or external metadata
532
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
7
17 / 532 (3.2%) names are linked to an author already present in AutiHub. 515 / 532 (96.8%) names are not yet linked.
Names linked to a person identified as autistic
0 / 532 (0.0%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 0 / 17 (0.0%). Distinct people identified as autistic: 0 / 498 (0.0%).
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