EDS in children: a longitudinal cohort study

The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. – PubMed – NCBI – 2017 Apr

This is only an abstract, but I also posted an important comment from Rodney Grahame below it.

The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline.

Methods.:

One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following:  

  • functional impairments,
  • quality of life,
  • connective tissue laxity,
  • muscle function,
  • postural control and
  • musculoskeletal and
  • multi-systemic complaints.

Results.:

Three clusters of children were identified in terms of functional impairment:

  1. mild,
  2. moderately and
  3. severely affected.

Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P ⩽ 0.05) over 3 years.

Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified.

All four constructs

  1. multi-systemic effects,
  2. pain,
  3. fatigue and
  4. loss of postural control

contributed significantly to disability (P ⩽ 0.046).

Conclusion.:

Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly,

  • orthostatic intolerance,
  • urinary incontinence and
  • diarrhoea) and
  • poor postural control
  • in addition to high levels of pain and fatigue

at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization.

Here is the critical comment on the article in PDF format:

The multisystemic nature of joint hypermobility syndrome and Ehlers-Danlos Syndrome in children – by Rodney Grahame

New research data conflict with widely held views

This editorial refers to Scheper MC, Nicholson LL, Adams RD, Tofts L, Pacey V. The natural history of children with joint hypermobility syndrome and Ehlers–Danlos hypermobility type: a longitudinal cohort study. Rheumatology 2017, doi: 10.1093/rheumatology/kex148.

When Kirk et al. [1] published their seminal paper half a century ago describing joint hypermobility syndrome (JHS), they inadvertently made two assertions that with hindsight have turned out to be incorrect.

  1. First, they defined the syndrome as being the occurrence of symptomatic joint hypermobility in otherwise healthy individuals.
  2. Second, while they considered the possibility of an underlying connective tissue disorder, they dismissed this explanation, unfortunately without telling us the reasons for doing so.

As a result, the concept of healthy subjects became indelibly attached to JHS and it came to be regarded as a purely musculoskeletal condition and a rather trivial one at that.

But slowly and surely over the next four decades there emerged convincing evidence that, in adults at least, systemic features are at play, including

  • chronic pain,
  • gastrointestinal dysmotility,
  • dysautonomia,
  • mast cell activation and
  • anxiety and phobic states

as co-morbidities or possibly as complications, but their recognition was stifled by unyielding allegiance to the ‘otherwise healthy’ theory. According to this theory, healthy people do not complain of multisystemic symptoms, so their symptoms were dismissed as being of psychosomatic origin and any attempt to seek an organic aetiology was labelled as overmedicalization.

Yet by the turn of the century, scientific studies published in peerreview journals began to appear testifying to the multisystemic and disabling nature of JHS.

In 2009 an international group of geneticists and rheumatologists reported that, in their conjoint view, JHS was indistinguishable from, if not identical to, a genetic disorder then known as Ehlers–Danlos syndrome, hypermobility type (EDS-HT)

All this should change with the publication in this issue of a seminal paper from a team spanning the globe from Amsterdam, The Netherlands to Sydney, NSW, Australia [5].

Although numerous previous cross-sectional studies have amply documented the occurrence of multisystemic involvement in children with JHS/EDS-HT, this is the first longitudinal cohort study to do so in a prospective manner.

The study maps out the natural history and the prognosis in 101 children [45 boys, 56 girls; mean age 11.4years (range 6–16.8)], all diagnosed with JHS or EDS-HT according to the Brighton [6] and Villefranche [7] criteria, respectively, who were followed over a 3 year period and assessed at three periods in time (baseline, 1.5 and 3years).

Functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multisystemic complaints were documented. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups and differences were assessed by multiple analysis of variance. Mixed linear regression models were used in order to determine the subsequent trajectories. Finally, an exploratory factor analysis was utilized to uncover the underlying constructs of functional impairment.

Three clusters of children were identified in terms of functional impairment: mildly, moderately and severely affected.

Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P 4 0.05) over 3years.

Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multisystemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P 4 0.046).

Children diagnosed with JHS/EDS-HT who have a high incidence of multisystemic complaints (particularly orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline were most likely to have a deteriorating trajectory of functional impairment and accordingly warrant earlier clinical intervention.

In conclusion, I would urge colleagues to consider carefully studying this paper in order to better identify and resolve gaps in health and social care that currently blight the lives of children with JHS/EDS-HT and their families.

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