Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives

Abstract

In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research.

Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia

“…All children from the central and/or mixed peripheral hypotonia group were clinically described with isolated features of hypotonia and hyperlaxity (in the absence of comorbid movement disorder features) . Neurological disorders were excluded at the outpatient clinic, before enrolment in the study group.…”

“…Reliable phenotypic recognition of early‐onset ataxia (EOA) among other developmental disorders with coordination impairment, such as developmental coordination disorder (DCD) and hypotonia of central nervous system origin, is important for selecting the correct diagnostic algorithm, predicting familial recurrence risk, and treating the child. However, in young children with motor coordination difficulties, clinical recognition of mild EOA features may be challenging.…”

“…Central hypotonia is characterized by a subgroup of children with negative motor signs due to lack of muscle tone and/or joint hyperlaxity . In general, lack of muscle tone can be associated with kinetic inaccuracy (sloppiness) and balance problems, which may mimic cerebellar dysfunction …”

“…11,14,15 Central hypotonia is characterized by a subgroup of children with negative motor signs due to lack of muscle tone and/or joint hyperlaxity. 3,4 In general, lack of muscle tone can be associated with kinetic inaccuracy (sloppiness) and balance problems, which may mimic cerebellar dysfunction. 16,17 In the absence of criterion standards 18 and in the context of ambiguous clinical descriptions, an insight into the reliability of phenotypic differentiation between EOA and other disorders with impaired coordination (DCD and central hypotonia) is important.…”

Anesthetic Management of a Patient With Ehlers-Danlos Syndrome

“…4,5 EDS-HT and joint hypermobility syndrome are clinically overlapping connective tissue disorders featuring generalized joint hypermobility, muscloskeletal pain, and minor skin features. 6 EDS-HT and joint hypermobility syndrome may constitute the same clinical entity and likely share the same genetic background, at least in familial cases. Investigations into their relationship are still ongoing.…”