The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders | December 2020

The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders


Emily L. Casanova,1,*Carolina Baeza-Velasco,2,3Caroline B. Buchanan,4 and  Manuel F. Casanova1,5


Considerable interest has arisen concerning the relationship between hereditary connective tissue disorders such as the Ehlers-Danlos syndromes (EDS)/hypermobility spectrum disorders (HSD) and autism, both in terms of their comorbidity as well as co-occurrence within the same families. This paper reviews our current state of knowledge, as well as highlighting unanswered questions concerning this remarkable patient group, which we hope will attract further scientific interest in coming years. In particular, patients themselves are demanding more research into this growing area of interest, although science has been slow to answer that call. Here, we address the overlap between these two spectrum conditions, including neurobehavioral, psychiatric, and neurological commonalities, shared peripheral neuropathies and neuropathologies, and similar autonomic and immune dysregulation. Together, these data highlight the potential relatedness of these two conditions and suggest that EDS/HSD may represent a subtype of autism.

Keywords: autism spectrum disorder, Ehlers-Danlos syndrome, hypermobility spectrum disorders, autonomic disorder, mast cell activation syndrome.

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