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Autism and Hypermobility - Ehlers-Danlos Syndrome

Updated: Jan 16, 2023

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

After speaking to many people with autism through assessments, hypermobility seemed to come up quite often. I wondered if there was any research into a link between the two. Turns out there is research that is not only suggesting link but that hypermobility may be a sub-type of autism. This research article by Emily L. Casanova, Carolina Baeza-Velasco, Caroline B. Buchanan and Manuel F. Casanova sheds some light on the connection. All the information and credit for this research belongs to these researchers. I have quoted parts of their research below.

Like autism, Ehlers-Danlos syndromes (EDS)/hypermobility spectrum disorders (HSD) appear to be complex spectrum conditions and are classed as hereditary connective tissue disorders (HCTD). According to the International EDS Consortium, there are currently 14 recognized subtypes of EDS, 13 of which are considered “rare,” each occurring in no more than 1:2000 individuals and usually far rarer. All are associated with rare gene variants, often targeting collagen pathway genes. There has also been a number of studies investigating joint hypermobility (irrespective of HCTD) and its relationship to neurodevelopmental conditions such as autism and ADHD.

Unfortunately, because these two spectrum conditions tend to be diagnosed and treated by different clinical professionals, it is not often that their comorbidity is recognized, likely leading to significant underdiagnosis. For instance, although developmental-behavioral pediatricians may test for hypotonia and joint laxity in autistic children during initial assessment, unless signs are severe and suggestive of an underlying genetic disorder they are usually ascribed to the autism itself, a result of diagnostic overshadowing.

In addition, it is well-recognized that females with autism are an underdiagnosed population, particularly those who fall within the intellectually-abled end of the spectrum as they may have a different symptom presentation, are usually more skilled at social masking or rehearsed mimicry, and may experience different psychiatric comorbidities than their male counterparts. Because hEDS is overwhelmingly diagnosed in women, it is therefore likely that autism spectrum conditions are underrecognized in this clinical subpopulation.

Preliminary work from Casanova et al. also suggests that autism and EDS/HSD co-occur within the same families. The researchers found that more than 20% of mothers with EDS/HSD reported having autistic children—a rate not significantly different from those reported by mothers who themselves are on the autism spectrum. In addition, the rates of autism in the children shared a significant positive relationship with the severity of maternal immune disorders in EDS/HSD, suggesting that the mother’s immune system may play an additional role in autism susceptibility in these connective tissue disorders. Interestingly, maternal immune activation (MIA) appears to play a significant role in many cases of idiopathic autism, suggesting a shared mechanism of risk.

Although autism is defined neurobehaviorally and EDS/HSD by various articular and extra-articular connective tissue manifestations, these two conditions share considerable phenotypic overlap at various levels. Genetic data indicate similarities at the molecular, cellular, and tissue levels, as illustrated by numerous genetic syndromes with comorbid autism and hypermobility. EDS/HSD and autism comorbidity and familial co-occurrence lend further credence to this relationship, suggesting potential links via the maternal immune system.

In consideration of the materials presented in this review, we (along with previous authors) have proposed that hereditary connective tissue disorders represent a subtype of autism whose prevalence is currently unknown, although the common nature of HSDs (and likely hEDS) suggests it may comprise a significant minority of autism cases. This relationship indicates that connective tissue impairment may influence brain development, either through direct and/or indirect means. Future studies will ideally involve in vitro and in vivo research to address these possibilities and further define the causative factors in autism susceptibility.

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Here's a screening assessment for Ehlers-Danlos syndrome. You can find more info here.


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