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

Giulia Ghibellini, Francesco Brancati, Marco Castori

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)107-116
Number of pages10
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume169
Issue number1
DOIs
Publication statusPublished - Mar 1 2015

Keywords

  • Developmental coordination disorder
  • Dyspraxia
  • Ehlers-Danlos syndrome
  • Joint hypermobility
  • Proprioception

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Fingerprint Dive into the research topics of 'Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives'. Together they form a unique fingerprint.

Cite this