2021/11/06 by Carolina Baeza‐Velasco · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Psychology · #Connective tissue disorders research #Glycogen Storage Diseases and Myoclonus #Neurogenetic and Muscular Disorders Research #Joint hypermobility #Ehlers–Danlos syndrome #Hypermobility (travel) #Context (archaeology) #Medicine #Connective tissue #Neurodevelopmental disorder #Connective Tissue Disorder #Spectrum disorder #Autism #Autism spectrum disorder #Population #Psychology #Psychiatry #Dermatology #Pathology #Physical therapy #Biology
paper · doi:10.1002/ajmg.c.31946
openalex publication_date 2021/11/06 · openalex created_date 2021/11/08 · openalex updated_date 2026/07/22
Joint hypermobility (JHM), defined as an increased range of joint motion, is a frequent somatic trait in the general population but also the hallmark of many of the hereditary disorders of connective tissue. Ehlers-Danlos syndromes (EDS) belong to this group of diseases and are characterized by tissue fragility, skin abnormalities, and JHM. Between JHM and EDS, there are the so-called hypermobility spectrum disorders (HSD), which is an umbrella term referring to people with symptomatic JHM who do not fulfill criteria for a syndromic connective tissue disorder such as EDS. Among the variety of clinical correlates of JHM/HSD/EDS, neurodevelopmental atypisms are common although often not screened for and identified in the clinical setting. This article reviews the pertinent literature concerning neurodevelopmental conditions for which there is some evidence of an association with JHM/HSD/EDS. These include hyperactivity and attention deficit, learning, communication, and motor problems including tic disorders such as Tourette syndrome and autism spectrum disorders. Underlying mechanism hypotheses for such interconnections are also reviewed. The coexistence of connective tissue-altered conditions and neurodevelopmental atypisms increases disability in patients from an early age. Thus, increased awareness among clinicians and researchers is necessary to promote assessment, diagnosis, and develop management strategies to meet the specific needs of those affected.