Abstract
Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain.
Highlights
Autism Spectrum Disorders (ASD) is a blanket term for an etiologically and clinically heterogeneous group of neurodevelopmental disorders commencing in early childhood
There are, more and more genetic syndromes that are identified as associated with autism [7]
Concerning Heritable Disorders of Connective Tissue (HDCTs), the work by Blair et al [36] which examined comorbidity among Mendelian and complex diseases by mining the medical records of over 110 million patients, observed significant clinical comorbidities between Marfan syndrome (i.e., HDCTs characterized by marfanoid habitus, aortic aneurysm, and ectopia lentis) and neuropsychiatric conditions such as ASD
Summary
Autism Spectrum Disorders (ASD) is a blanket term for an etiologically and clinically heterogeneous group of neurodevelopmental disorders commencing in early childhood. Concerning HDCTs, the work by Blair et al [36] which examined comorbidity among Mendelian and complex diseases by mining the medical records of over 110 million patients, observed significant clinical comorbidities between Marfan syndrome (i.e., HDCTs characterized by marfanoid habitus, aortic aneurysm, and ectopia lentis) and neuropsychiatric conditions such as ASD These results had not been reported before. As in ASD, there is ongoing debate concerning the description of hEDS in particular, as to whether it is a genetic disease or a clinical syndrome is still relevant In this regard, these new criteria will be revised during 2018 by the International Consortium on EDS. The clinical descriptions are compatible with hEDS [47] in which skin hyperextensibility may be absent Another case combining high-functioning autistic disorder and EDS was reported by Takei et al [51]. More cases of ASD were found in hypermobility syndrome siblings compared to control sibling (ASD in 0.6% vs. 0.5%, respectively; RR 1.3, 95% CI 1.1–1.7)
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