Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

Abstract

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.

The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison

“…The results of the present study indicate an augmenting role of symptomatic GJH and an ADHD phenotype on the association between ASD and GJH. Baeza-Velasco et al have hypothesised how recognised features of GJH may promote an ADHD phenotype ( 56 , 57 ). However, significantly more research is required for an evidence-based understanding on how, and to what extent, various underlying mechanisms may contribute to the association between GJH and neurodevelopmental disorders.…”

Tourette syndrome research highlights from 2021

“…The presence of connective tissue-altered conditions, like joint hypermobility, was shown to be associated with tic disorders. 25 …”

Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review

“…Neurodevelopment disorders (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) Anorexia nervosa (12,(23)(24)(25)(26)(27)(28)(29)(30) Addiction (33,34) Anxiety disorders (35)(36)(37)(38)(39)(40)(41)(42)(43) Mood disorders (17,37,(45)(46)(47)(48)(49)(50) Personality disorder (42,49,64)…”

“…In addition, pain disrupts the attentional performance. These psychological reactions may contribute to ADHD ( 16 ). A high prevalence of ADHD and autism spectrum disorder (ASD) has been found in patients with hEDS ( 17 ).…”

“…On the contrary, few studies have reported specific learning disorders, such as dyslexia, dysgraphia, and dyscalculia, in patients with EDS, and these aspects are poorly explored. Baeza-Velasco recently summarized that physical disabilities in patients with hEDS could increase learning and communication disorders from an early age ( 16 ). The diagnosis of learning disorders is difficult because of the overlap with several EDS criteria associated with proprioception and pronounced fatigue.…”