Chapter 18: The Child with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inheritable disorders of connective tissue characterized by connective tissue laxity and fragility leading to hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility (see chapter 2).1 Hypermobile and classical EDS are the most common forms of the disorder; however, they are difficult to diagnose at a young age. Recently, the two conditions benign joint hypermobility syndrome (BJHS) and EDS hypermobility type have been recognized as one and the same clinical spectrum ranging from apparently symptomatic generalized joint hypermobility to the most disabled individuals fitting the new diagnostic criteria. These new criteria are more strict than the Villefranche criteria and the Brighton criteria for BJHS in order to define a homogeneous phenotype for management and scientific purposes. Within the new EDS nosology, its name is hypermobile EDS (see chapters 2 and 5). Children and adolescents possess, compared to adults, an inherently greater range of motion in their joints that gradually decreases as they age. The prevalence of hypermobility in children as a phenomenon, i.e. symptomatic hypermobility, has been measured in a number of studies and, depending on the age or ethnicity of the study population or the inclusion criteria, has been reported to be between 2.3 and 30%.2,3,4 Such high prevalence rates imply that hypermobility as a measured phenomenon in many children will most often not lead to symptoms requiring medical attention.

However, in a significant number of children, joint hypermobility coincides with adverse symptoms and is associated with other health complaints, which may be harder to recognize and classify, particularly if the health professionals are not aware of the manifestations of the joint hypermobility syndromes in childhood.

This chapter will describe the signs and symptoms of EDS and consider the diagnostic approaches. It will describe current understanding of intervention and supportive approaches at home and school for the child, and will consider future considerations for potential research.