Abstract
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.
Highlights
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
Genetic data indicate similarities at the molecular, cellular, and tissue levels, as illustrated by numerous genetic syndromes with comorbid autism and hypermobility, which we have reviewed within this manuscript
Ehlers-Danlos syndromes (EDS)/hypermobility spectrum disorders (HSD) and autism comorbidity and familial co-occurrence lend further credence to this relationship, suggesting potential links via the maternal immune system. These two spectrum conditions share a variety of secondary comorbidities, including similar neurobehavioral, psychiatric, and neurological phenotypes, such as ADHD, anxiety and mood disorders, proprioceptive impairment, sensory hyper-/hyposensitivities, eating disorders, suicidality, epilepsy, structural abnormalities such as Chiari I malformation and periventricular heterotopias, and sleep disorders— those involving sleep-disordered breathing (SDB)
Summary
A substantial minority on the autism spectrum display rare genetic variants that appear to be the primary cause of their conditions [5]. There are currently no accurate prevalence rates or known genetic associations for the remaining subtype, hypermobile EDS (hEDS), clinical opinion and the fact that it makes up 80–90% of EDS cases strongly suggests it is a common condition. It is probable the majority of hEDS cases are associated with small effect polygenic risk factors and environmental exigencies [15,16]. Research seems to indicate that the two conditions blend into one another and the diagnoses are poor predictors of overall physical impairment and prognosis, suggesting criteria may well change again in future [18,19,20]
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