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Published on: April 22, 2015
A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility
Emily L Casanova1,2, Julia L Sharp3, Stephen M Edelson4
1Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, SC 29605, USA. casanove@greenvillemed.sc.edu.
Autism spectrum disorder (ASD) women with generalized joint hypermobility (GJH) report more immune and endocrine conditions than those without GJH. These findings suggest a link between ASD, GJH, and immune/endocrine dysregulation.
Area of Science:
- Neurodevelopmental Disorders
- Connective Tissue Diseases
- Immunology
- Endocrinology
Background:
- Autism spectrum disorder (ASD) and Ehlers-Danlos syndrome (EDS), a connective tissue disorder, may share comorbidities.
- Individuals with EDS and generalized joint hypermobility (GJH) frequently exhibit immune and endocrine conditions.
- Immune and endocrine dysregulation is a key area of investigation in autism research.
Purpose of the Study:
- To investigate differences in immune and endocrine exophenotypes between women with ASD with and without GJH.
- To explore the relationship between GJH, immune-mediated conditions, and endocrine-mediated conditions in women with ASD.
Main Methods:
- An online survey was administered to women aged 25 and older diagnosed with ASD.
- Participants reported diagnoses, history of immune/endocrine symptoms, pain experiences, and seizure history.
- Data were analyzed to compare immune/endocrine exophenotypes between ASD women with and without GJH.
Main Results:
- ASD women with GJH (ASD/GJH) reported significantly more immune- and endocrine-mediated conditions compared to ASD women without GJH (p = 0.001).
- Autoimmune conditions were particularly prevalent in the ASD/GJH group (p = 0.027).
- Immune-mediated symptoms frequently co-occurred, as did endocrine-mediated symptoms, irrespective of GJH status (p < 0.001–0.045). A strong inter-relationship was observed between the number of immune and endocrine symptoms (p < 0.001).
Conclusions:
- The study reinforces a potential etiological relationship between ASD and GJH, though comorbidity could not be estimated.
- Women with ASD/GJH present with more complex immune/endocrine exophenotypes than their non-GJH counterparts.
- Findings suggest connective tissue may regulate the immune system, and immune/endocrine systems might influence collagen synthesis, potentially explaining higher GJH rates in this subpopulation.
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