[mo_oauth_login]
Rheumatology & Neurology

Generalised joint hypermobility amongst children and teens

By Dr Andrea Coda

Section Editor

Dr Andrea Coda is a senior podiatry lecturer who is passionate about paediatric and digital health. He is the Clinical Course Coordinator and former Program Convenor (Research Hons, Central Coast Campus) at the College of Health, Medicine and Wellbeing (University of Newcastle, Australia). Andrea is also a Senior Member of the Priority Research Centre for Health Behaviour at the Hunter Medical Research Institute.

By Muhammad (Mo) Maarj

PhD researcher (Podiatry)

Muhammad Maarj (Mo) is the Consultant Sports Podiatrist at Narrabeen Sports Medicine centre. Mo has specialised in the treatment of patients with generalised joint hypermobility, working closely with professionals in the field. Mo’s clinical practice includes the use of prescription orthosis to treat patients with symptomatic generalised joint hypermobility successfully, and he has now embarked on research through Newcastle University looking at the impact of podiatric management on children and adolescents with generalised joint hypermobility experiencing lower limb pain.

Fully understanding the musculoskeletal impact that lower limb joint hypermobility and treatment complications have upon individual children and their families has long been a challenge for podiatrists. As clinicians, it is important to be able to thoroughly recognise the signs and symptoms for children that may present to clinics with excessive joint range of motion. 

Generalised joint hypermobility describes atypical high joint ranges of movement in multiple joints and presents in 20–40% of the paediatric population with approximately one-fifth of children with GJH reporting symptoms.

The changing labels of this condition

Children with generalised joint hypermobility (GJH) and related symptoms have been referred to within the literature under several different diagnostic labels, which have changed over time. Generalised joint hypermobility describes atypical high joint ranges of movement in multiple joints (Kirk, Ansell, & Bywaters, 1967) and presents in 20–40% of the paediatric population (Clinch et al., 2011; Remvig, Kümmel, Kristensen, Boas, & Juul-Kristensen, 2011) with approximately one-fifth of children with GJH reporting symptoms (Remvig et al., 2011; Sperotto et al., 2014). 

 

Figure 1: Posterior view of a child with GJH. consent obtained and photo provided by Narrabeen Sport Medical Centre – Podiatry.

 

Currently used diagnostic labels describing children with GJH with associated symptoms include Generalised Hypermobility Spectrum Disorder (G-HSD) (Castori et al., 2017), and hypermobile Ehlers-Danlos Syndrome (hEDS), which further incorporates an extended phenotype including skin involvement, tissue fragility or a marfanoid body habitus (excessively long limb) (Malfait et al., 2017). These conditions were previously referred to as Joint Hypermobility Syndrome (JHS) or EDS-Hypermobile type, with experts reporting a lack of clinical distinction between the two (Tofts, Elliott, Munns, Pacey, & Sillence, 2009) (Tinkle et al., 2009). 

 

The term, ‘Children with GJH and associated symptoms’ will be used throughout this short article review to indicate any of the current or previously used terminology for this condition.

 

Going beyond hypermobility

Children with GJH and associated symptoms report chronic pain (Grahame, 2008), fatigue (Voermans, Knoop, Bleijenberg, & van Engelen, 2011) and functional difficulties, such as balance deficiencies (Hanewinkel-van Kleef, Helders, Takken, & Engelbert, 2009) that have a negative impact on their daily quality of life (Fatoye, Palmer, Macmillan, Rowe, & van der Linden, 2012) (Mu et al., 2019). Chronic joint pain is often exacerbated following physical activity (Armon, 2015) with lower limb pain being the most common location described (Pacey, Tofts, Adams, & Nicholson, 2015). Joint instability episodes and frequent soft tissue symptoms have also been frequently reported (Pacey et al., 2015); however, sometimes for young patients it is challenging to recollect with precision when and how these occurred.

 

Functional difficulties reported include motor development challenges (R. H. Engelbert et al., 2005), muscle torque deficits and poor proprioception (Fatoye, Palmer, Macmillan, Rowe, & van der Linden, 2009) resulting in a negative influence on school and/or social activity participation (Schubert-Hjalmarsson, Öhman, Kyllerman, & Beckung, 2012). Children with GJH also describe systemic symptoms including orthostatic intolerance, functional gastrointestinal disorders and stress incontinence (Fatoye et al., 2012; Pacey et al., 2015) a greater number of systemic symptoms leads to worse functional disability (Scheper et al., 2016). 

 

Additional psychological symptoms may also result in poorer quality of life than typically developing children (Baeza-Velasco, Gély-Nargeot, Bulbena Vilarrasa, & Bravo, 2011; Mu et al., 2019; Pacey et al., 2015; Zekry, 2013)

Patients are often relying on their memory as they assess adverse episodes, ongoing pain levels, compliance with physical activity programs and their quality of life level...

The need for more data

This valuable clinical information is traditionally collected during face-to-face appointments that are usually scheduled every one to three months. In these appointments, patients are often relying on their memory as they assess adverse episodes, ongoing pain levels, compliance with physical activity programs and their quality of life level. Clinicians then have to manually transfer insights into the patient’s medical record. At present, no studies have yet been able to facilitate this process to reduce recall bias and improve real time paediatric data capture of acute and chronic symptoms.

 

Validated, reliable outcome measures aid evaluation of treatment effectiveness. Despite the importance of such validated outcome measures in paediatric populations (Rome, Ashford, & Evans, 2010) there are still limited condition specific outcome measurement tools for children with GJH and associated symptoms. Recent systematic reviews and meta-analyses have been largely inconclusive, partially due to the lack of standardised outcome measures used between studies (R. Engelbert et al., 2013; Peterson, Coda, Pacey, & Hawke, 2018; Scheper et al., 2013; Smith et al., 2014).

 

Figure 2: A video of a frontal view of a child with GJH. Consent obtained and photo provided by Narrabeen Sport Medical Centre – Podiatry. 

 

Common treatment pathways

Health professionals typically utilise non-drug interventions, such as physical and mechanical therapies, to effectively manage lower limb symptoms. The evidence base for mechanical and physical therapies for lower limb problems in children with GJH is growing yet with small sample sizes, high attrition rates and in some cases it is difficult for health professionals to access, appraise and synthesise. Exercise based therapy has been assessed, and while literature recommends the use of Foot Orthoses (FOs) very limited research has been carried out specifically in this population (Simmonds & Keer, 2007).

 

Considering the high prevalence of GJH present in our paediatric communities and the frequent concerns expressed by parents, future studies should focus on providing safe and effective podiatric solutions to help children with GJH. This may improve lower limb pain, promote higher physical activity level and overall quality of life.

 

Conflict of Interest

The authors would like to declare no conflict of interest.

 

Reference list

1 Armon, K. (2015). Musculoskeletal pain and hypermobility in children and young people: is it benign joint hypermobility syndrome? Arch Dis Child, 100(1), 2-3. doi:10.1136/archdischild-2014-306556
2 Baeza-Velasco, C., Gély-Nargeot, M. C., Bulbena Vilarrasa, A., & Bravo, J. F. (2011). Joint hypermobility syndrome: problems that require psychological intervention. Rheumatol Int, 31(9), 1131-1136. doi:10.1007/s00296-011-1839-5
3 Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017). A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet, 175(1), 148-157. doi:10.1002/ajmg.c.31539
4 Clinch, J., Deere, K., Sayers, A., Palmer, S., Riddoch, C., Tobias, J. H., & Clark, E. M. (2011). Epidemiology of generalized joint laxity (hypermobility) in fourteen-year-old children from the UK: A population-based evaluation. Arthritis & Rheumatism, 63(9), 2819-2827. doi:10.1002/art.30435
5 Engelbert, R., Scheper, M., Rameckers, E., Verbunt, J., Remvig, L., & Juul-Kristensen, B. (2013). Children with generalized joint hypermobility and musculoskeletal complaints: State of the art on diagnostics, clinical characteristics and treatment. Annals of the Rheumatic Diseases, 72. doi:10.1136/annrheumdis-2013-eular.3122
6 Engelbert, R. H., Kooijmans, F. T., van Riet, A. M., Feitsma, T. M., Uiterwaal, C. S., & Helders, P. J. (2005). The relationship between generalized joint hypermobility and motor development. Pediatr Phys Ther, 17(4), 258-263.
7 Fatoye, F., Palmer, S., Macmillan, F., Rowe, P., & van der Linden, M. (2009). Proprioception and muscle torque deficits in children with hypermobility syndrome. Rheumatology (Oxford), 48(2), 152-157. doi:10.1093/rheumatology/ken435
8 Fatoye, F., Palmer, S., Macmillan, F., Rowe, P., & van der Linden, M. (2012). Pain intensity and quality of life perception in children with hypermobility syndrome. Rheumatol Int, 32(5), 1277-1284. doi:10.1007/s00296-010-1729-2
9 Grahame, R. (2008). Hypermobility: an important but often neglected area within rheumatology. Nat Clin Pract Rheumatol, 4(10), 522-524. doi:10.1038/ncprheum0907
10 Hanewinkel-van Kleef, Y. B., Helders, P. J., Takken, T., & Engelbert, R. H. (2009). Motor performance in children with generalized hypermobility: the influence of muscle strength and exercise capacity. Pediatr Phys Ther, 21(2), 194-200. doi:10.1097/PEP.0b013e3181a3ac5f
11 Kirk, J. A., Ansell, B. M., & Bywaters, E. G. (1967). The hypermobility syndrome. Musculoskeletal complaints associated with generalized joint hypermobility. Ann Rheum Dis, 26(5), 419-425. doi:10.1136/ard.26.5.419
12 Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., . . . Tinkle, B. (2017). The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8-26. Retrieved from https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31552. doi:https://doi.org/10.1002/ajmg.c.31552
13 Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., . . . Bodurtha, J. (2019). Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. Am J Med Genet A, 179(4), 561-569. doi:10.1002/ajmg.a.61055
14 Pacey, V., Tofts, L., Adams, R., & Nicholson, L. (2015). Factors affecting change in children with joint hypermobility syndrome: Results of a prospective longitudinal study. Internal Medicine Journal, 45, 9. Retrieved from http://dx.doi.org/10.1111/imj.12752. doi:10.1111/imj.12752
15 Peterson, B., Coda, A., Pacey, V., & Hawke, F. (2018). Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review. J Foot Ankle Res, 11, 59. doi:10.1186/s13047-018-0302-1
16 Remvig, L., Kümmel, C., Kristensen, J. H., Boas, G., & Juul-Kristensen, B. (2011). Prevalence of generalized joint hypermobility, arthralgia and motor competence in 10-year-old school children. International Musculoskeletal Medicine, 33(4), 137-145. Retrieved from https://doi.org/10.1179/1753615411Y.0000000009. doi:10.1179/1753615411Y.0000000009
17 Rome, K., Ashford, R. L., & Evans, A. (2010). Non-surgical interventions for paediatric pes planus. Cochrane Database Syst Rev(7), Cd006311. doi:10.1002/14651858.CD006311.pub2
18 Scheper, M. C., Engelbert, R. H. H., Rameckers, E. A. A., Verbunt, J., Remvig, L., & Juul-Kristensen, B. (2013). Children with generalised joint hypermobility and musculoskeletal complaints: state of the art on diagnostics, clinical characteristics, and treatment. BioMed Research International, 2013, 121054-121054. doi:2013/121054
19 Scheper, M. C., Juul-Kristensen, B., Rombaut, L., Rameckers, E. A., Verbunt, J., & Engelbert, R. H. (2016). Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis. Arch Phys Med Rehabil, 97(12), 2174-2187. doi:10.1016/j.apmr.2016.02.015
20 Schubert-Hjalmarsson, E., Öhman, A., Kyllerman, M., & Beckung, E. (2012). Pain, balance, activity, and participation in children with hypermobility syndrome. Pediatr Phys Ther, 24(4), 339-344. doi:10.1097/PEP.0b013e318268e0ef
21 Simmonds, J. V., & Keer, R. J. (2007). Hypermobility and the hypermobility syndrome. Man Ther, 12(4), 298-309. doi:10.1016/j.math.2007.05.001
22 Smith, T. O., Bacon, H., Jerman, E., Easton, V., Armon, K., Poland, F., & Macgregor, A. J. (2014). Physiotherapy and occupational therapy interventions for people with benign joint hypermobility syndrome: a systematic review of clinical trials. Disability & Rehabilitation, 36(10), 797-803. doi:10.3109/09638288.2013.819388
23 Sperotto, F., Balzarin, M., Parolin, M., Monteforte, N., Vittadello, F., & Zulian, F. (2014). Joint hypermobility, growing pain and obesity are mutually exclusive as causes of musculoskeletal pain in schoolchildren. Clin Exp Rheumatol, 32(1), 131-136.
24 Tinkle, B. T., Bird, H. A., Grahame, R., Lavallee, M., Levy, H. P., & Sillence, D. (2009). The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A, 149a(11), 2368-2370. doi:10.1002/ajmg.a.33070
25 Tofts, L. J., Elliott, E. J., Munns, C., Pacey, V., & Sillence, D. O. (2009). The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatr Rheumatol Online J, 7, 1. doi:10.1186/1546-0096-7-1
26 Voermans, N. C., Knoop, H., Bleijenberg, G., & van Engelen, B. G. (2011). Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study. Physiotherapy, 97(2), 170-174. doi:10.1016/j.physio.2010.06.001
27 Zekry, O. A., Ahmed, M. A., & Elwahid, H. A. E. A. . (2013). The impact of fatigue on health related quality of life in adolescents with benign joint hypermobility syndrome. . Egyptian Rheumatologist, 35(2). doi:https://doi.org/10.1016/j.ejr.2012.12.002
Back to the top

© Copyright 2021 The Australian Podiatry Association

[mo_oauth_login]