Physiotherapy for Children with Hypermobility Syndrome

Key Words Hypermobility syndrome, physiotherapy, Beighton score.

Physiotherapy for Children with Hypermobility Syndrome Summary Hypermobility syndrome describes the group of musculoskeletal complaints, particularly myalgia and arthralgia, that appear to be associated with non-pathological excessive joint mobility. Physiotherapy, which is frequently recommended for this syndrome, has not been defined or investigated for effectiveness. However, the experience of treating unstable joints, in particular shoulder and knee joints, provides the basis for the physiotherapy approach in this common condition.This paper describes the management programme adopted at the Royal Hospital for Sick Children, Edinburgh, that may offer a guideline for practitioners and the basis for future study. Retrospective data from this clinic support the efficacy of the programme.

Kerr, A, Macmillan, C E, Uttley, W S and Luqmani, R A (2000). ‘Physiotherapy for children with hypermobility syndrome’, Physiotherapy, 86, 6, 313-317.

Introduction Hypermobility is defined as an excess in joint range of movement (Hudson et al, 1995). This common characteristic has a reported incidence between 10.5% (Carter and Wilkinson, 1964) and 34% of children (Arroya et al, 1988). Excessive range can be an advantage for some children in activities such as ballet and gymnastics (Beighton et al, 1989). Hypermobility syndrome (HMS), described first by Kirk et al (1967) as joint laxity associated with arthralgia and/or myalgia, accounts for 26% of referrals from the paediatric rheumatology clinic at the Royal Hospital for Sick Children (RHSC), Edinburgh. The syndrome is considered distinct from conditions such as Ehlers Danlos, Marfan and other syndromes which have hypermobile joints as a feature (Beighton, 1990). Undetected HMS has been the suggested source of other musculoskeletal problems, eg chondromalacia patella (Beighton, 1989) and may contribute to early onset of osteoarthritis (Grahame, 1989). Mobility and Stability The inherent stability of a joint is determined by the efficiency of the musculoskeletal (muscle, tendon, capsule, ligament and articular surfaces) and neural control (motor and sensory) systems.

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by A Kerr C E Macmillan W S Uttley R A Luqmani

Deficiencies in these systems whether from inflammatory disease, trauma or neural impairment may compromise stability. The pathogenic root of HMS is suggested to be an abnormality of connective tissue, more specifically of collagen synthesis (Child, 1986). This affects the stabilising function primarily of ligament which is largely composed of type 1 collagen aligned along lines of stress (Liu et al, 1995). Deficient ligament function manifests with increased joint mobility that may be advantageous (Larsson et al, 1987) in activities which value agility, and asymptomatic in non-weightbearing joints where the biomechanical forces are small. However, the soft-tissue microtrauma caused by this instability is the accepted explanation of joint and muscle pains in children (Gedalia and Brewer, 1993). This may be particularly evident in weightbearing joints where the stress is greater. Impaired proprioception, suggested by Hall et al (1995) and Sharma and Pai (1997) to occur in hypermobile joints may further contribute to this model of joint instability. The variability in symptom reporting does however suggest that other factors may be important, such as psychological distress (Lewkonia and Ansell, 1983; Bulbena et al, 1993). Rationale for Treatment Compensatory adaptation from other structures responsible for stability may offer a rationale for the treatment of unstable joints as found in HMS. Conser vative treatment excludes the surgical alteration of articular sur faces, ligament, capsule or neural efficiency. Specific muscle training exercises can, however, improve the competence of muscles as dynamic stabilisers during the phase of movement identified as unstable (Kitai and Sale, 1989; Graves et al, 1989, 1992). Intervention of this nature may also influence proprioception (Bernier and Perrin, 1998). Physiotherapy June 2000/vol 86/no 6

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Authors A Kerr MCSP and C E Macmillan MCSP are senior physiotherapists, W S Uttley FRCP is a consultant paediatrician and R A Luqmani FRCP is a consultant rheumatologist. At the time of the study all were employed at the Royal Hospital for Sick Children, Edinburgh. This article was received on February 17, 1999, and accepted on December 7, 1999.

Address for Correspondence Andrew Kerr, Division of Physiotherapy Education, Nottingham University, Nottingham NG5 1PB E-mail andrew.kerr@nottingham .ac.uk

Perhaps for this reason physiotherapy is widely regarded as the mainstay of treatment in HMS (Beighton et al, 1989). Although there is currently little clinical evidence to support this rationale for physiotherapy in HMS the large experience in treatment of unstable joints, in particular shoulders and knees (Engle and Canner, 1989a, b) and the existing understanding of muscle training (specificity and overload) (Morrissey et al, 1995; McArdle et al, 1996) provide a sound basis for physiotherapy. Measuring Hypermobility The scoring tools developed to measure incidence of HMS have proved useful clinical tools in assessing general hypermobility. The tool used at the RHSC, Edinburgh, is the modified Beighton score (Beighton et al, 1973). This is a nine-point scoring system consisting of: ■ Passive dorsiflexion of the fifth digit

beyond 90˚ (one point for each side). ■ Passive apposition of thumb to flexor aspect

of forearm (one point for each side). ■ Hyperextension of elbow past 10˚

(one point for each side). ■ Hyperextension of knees past 10˚

(0ne point for each side). ■ Forward flexion of the trunk in standing

so that the palms of the hand are flat on the ground. This tool has a reported high intra-rater reliability (Vulker et al, 1996). Debate surrounds the point at which a child is classified as having generalised hypermobility. Some authors state four (Qvindesland, 1999; Child, 1986; Hudson et al, 1995) and others five (Arroya et al, 1988). Not all patients diagnosed at this clinic scored above these values. It should be stressed that the tool is not used diagnostically, but this disparity between diagnosis and Beighton score highlights its validity problems. Based on results from this tool, sex, age and racial origin have been found to influence the incidence of hypermobility syndrome (Beighton et al, 1973; Larsson et al, 1993; El-Garf et al, 1998). Studies indicate a higher prevalence in females (Qvindesland, 1999; El-Garf et al, 1998; Beighton et al, 1973) and in certain populations, eg Iraqis (Al-Rawi et al, 1985), and Asian Indians and Africans (Beighton et al, 1973). A decrease in incidence with age has also been widely reported (Larsson et al, 1993). Physiotherapy June 2000/vol 86/no 6

Management of Hypermobility At the RHSC, management of this condition begins at the first consultation with the exclusion of diagnoses such as juvenile idiopathic arthritis or Marfan syndrome. Once HMS is confirmed as the likely cause of the complaint the child and family are offered reassurances of a good outcome and given advice on symptomatic relief which is generally through prescription of non-opioid analgesics. Following this appointment they are started on an exercise programme aimed at improving the mechanical stability of the involved joints. Physiotherapy The following daily exercise programme prescribed at the RHSC is based on principles of overload and specificity in muscle strengthening (ACSM, 1995). These principles have been observed in rehabilitation of knee and shoulder instability (Engle and Canner, 1989a, b) and with comparable syndromes (Hinton, 1986). Week 1 Following assessment, which includes the Beighton score, patients are instructed in a home programme of isometric muscle co-contractions at all involved joints. The exercises are performed in the unstable range. This is defined as encompassing the end of normal range and beginning of abnormal or hypermobile range (typically around 15°). Patients are asked to contract maximally without inducing pain. No resistance is applied at this stage. This is repeated five times, with each contraction held for five seconds. This protocol is continued daily for the coming week. Some parental encouragement is necessary with younger patients. Week 2 In accordance with the overload principle for muscle strengthening (ACSM, 1995) the patients are introduced to sub-maximal resistance. Body weight is used to provide the resistance since this reflects normal functional loading. This is achieved in standing for the lower limb joints and leaning on an appropriately high table for upper limbs. Small amplitude (20˚) eccentric and concentric isotonic contractions are performed around the unstable range. The exercises are repeated five times and increased daily by increments of five if there is no pain.

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Week 3 Repetition, resistance and speed of the isotonic exercises are all increased within patient tolerance. This is to improve endurance and peak muscle power. The isometric exercises are replaced with isotonic exercises, keeping the number of exercises to a minimum to enhance compliance (Wynn and Eckel, 1986). Parents are then offered general advice on compliance with the programme and the gradual re-introduction of physical activity. A review appointment is offered for six weeks later to encourage compliance and monitor progress. Effectiveness The absence of data on the outcome of treatment of HMS prompted a review of the patients who had participated in the programme described above. The physiotherapy notes of 51 hypermobility syndrome patients referred for treatment during the period 1995/97 were obtained. Age, sex, Beighton score and outcome were collected from 39 patients, all of whom had undergone the standard physiotherapy regimen. The remaining 12 had incomplete outcome data. (Details of all 51 patients are shown in tables 1 and 2.) Of the 39 subjects 95% complained of symptoms in either knee, ankle, and hip or a combination of the three (full details in table 3). Based on a global scale of patientreported symptomatic relief (0 = worse than baseline, 1 = no change from baseline, 2 = better than baseline, 3 = total absence of symptoms), at the six-week review appointment 27 (69%) had improved, with six (15%) having a complete resolution of symptoms. None reported deterioration. Sex did not appear to influence outcome. We examined the relationship between age and Beighton score at onset and found there was a significant negative relationship (R = --0.53, P < 0.01) that is to say Beighton score reduced with age. There was a significant positive relationship between age and outcome (R = 0.4, P < 0.01). The older children tended to have a better outcome from the programme. Other Factors Our experience together with these preliminary, albeit retrospective, data suggests physiotherapy can improve the symptoms in many children with HMS. Attributing improvement exclusively to physiotherapy, however, disregards the

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important influence of puberty, reassurance and even spontaneous recovery. The finding that older children appeared to have greater chances of improvement may well relate to natural stiffening up. However, the time-scale involved in the intervention discredits this as a valid explanation. The continued referral of older children further argues against a resolution of symptoms merely from growing older. What appears more likely is the possibility that greater compliance in older children together with the greater potential for muscle re-education after puberty (Borms, 1986) increases the effects of the training programme. The adherence factor is difficult to estimate due to a lack of data, however it has been used previously to explain the disparity between good and poor outcome of an exercise programme in a study of similar subjects (Goldman, 1991). The effect of reassurance is again difficult to estimate in the absence of psychometric testing, but will intuitively have an ameliorating effect.

Table 1: Included subjects Age Median Range

Number

Beighton Median Range

Female

22

10

4-14

5

2-9

Male

17

6

2-14

5

3-8

Total

39

8

2-14

5

2-9

Table 2: Excluded subjects Age Number Female

Median

7

8

Range 4-13

Male

5

8

4-13

Total

12

8

4-11

Table 3: Pattern of symptomatic joints Joints

No

%

Knees and ankles

18

46.2

Knees

10

25.6

Back

2

5.1

Knees and back

2

5.1

Hips

2

5.1

Knees, ankles and wrists

1

2.6

Knees, ankle, hips and back

1

2.6

Knee, elbow and shoulder

1

2.6

Ankles

1

2.6

Ankle and wrist

1

2.6

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Conclusion The treatment of this condition, based on training muscles to compensate for a deficiency in other structures responsible for joint stability, has a sound if untested rationale. The experience of the Royal

Hospital for Sick Children, Edinburgh, suggests positive outcomes. The programme outlined requires research to support its inclusion in the management of this condition and to refine its parameters for optimal results.

References Al-Rawi, Z S, Al-Aszawi, A J and Al-Chalabi, T (1985). ‘Joint mobility among university students in Iraq’, British Journal of Rheumatology, 24, 4, 326-331.

Engle, R P and Canner, G C (1989b). ‘Rehabilitation of symptomatic anterolateral knee instability’, Journal of Orthopaedic and Sports Physical Therapy, 11, 6, 237-244.

American College of Sports Medicine (1995). ACSM’s Guidelines for Exercise Testing and Prescription, Williams and Wilkins, Philadelphia, 5th edn.

Gedalia, A and Brewer, E J (1993). ‘Joint hypermobility in pediatric practice: A review’, Journal of Rheumatology, 20, 2, 371-374.

Arroya, I L, Brewer, E J and Giannini, E H (1988). ‘Arthritis/arthralgia and hypermobility of the joints in school children’, Journal of Rheumatology, 15, 6. Beighton, P (1990). McKusick’s Heritable Disorders of Connective Tissue, Mosby, St Louis, 5th edn. Beighton, P, Grahame, R and Bird, H (1989). Hypermobility of Joints, Springer Verlag, Berlin, 2nd edn. Beighton, P H, Solomon, L and Soskolne, C L (1973). ‘Articular mobility in an African population’, Annals of Rheumatic Diseases, 32, 413-418. Bernier, J N and Perrin, D H (1998). ‘Effect of co-ordination training on proprioception of the functionally unstable ankle’, Journal of Orthopaedic and Sports Physical Therapy, 27, 4, 264-275. Biro, F, Gewanter, L and Baum, J (1983). ‘The hypermobility syndrome’, Pediatrics, 72, 701-706. Borms, J (1986). The child and exercise: An overview’, Journal of Sports Sciences, 4, 3-20.

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Goldman, J A (1991). ‘Hypermobility and deconditioning: Important link to fibromyalgia/fibrositis’, Southern Medical Journal, 84, 10, 1192-96. Grahame, R (1989). ‘How often, when and how does joint hypermobility lead to osteoarthritis?’ British Journal of Rheumatology, 28, 320. Graves, J E, Pollock, M L and Jones, A E (1989). ‘Specificity of limited range of motion variable resistance training’, Medicine and Science in Sports and Exercise, 21, 84. Graves, E, Pollock, M L and Legget, S H (1992). ‘Limited range of motion lumbar extension training’, Medicine and Science in Sports and Exercise, 24, 128. Hall, M G, Ferrell, W R, Sturrock, R D, Hamblen, D L and Baxendale, R H (1995). ‘The effect of the hypermobility syndrome on knee joint proprioception’, British Journal of Rheumatology, 34, 121-125. Hinton, R Y (1986). ‘Case study: Rehabilitation of multiple joint instability associated with Ehlers Danlos syndrome’, Journal of Orthopaedic and Sports Physical Therapy, 8, 4, 193-198.

Bulbena, A, Duro, J C, Porta, M, Martin-Santos, R, Mateo, A, Molina, L, Vallescar, R and Vallejo, J (1993). ‘Anxiety disorders in the joint hypermobility syndrome’, Psychiatry Research (QC4), 46, 1, 59-68.

Hudson, N, Starr, M R, Esdaile, J M and Fitzcharles, M A (1995). ‘Diagnostic associations with hypermobility in rheumatology patients’, British Journal of Rheumatology, 34, 1157-61.

Carter, C and Wilkinson, J (1964). ‘Persistent joint laxity and congenital dislocation of the hip’, Journal of Bone and Joint Surgery, 46b, 40.

Kirk, J H, Ansell, B M and Bywaters, E G L (1967). ‘The hypermobility syndrome’, Annals of Rheumatic Diseases, 26, 419-425.

Child, A H (1986). ‘Joint hypermobility syndrome: Inherited disorder of collagen synthesis’, Journal of Rheumatology, l13, 2, 239-243.

Kitai, T A and Sale, D G (1989). ‘Specificity of joint angle in isometric training’, European Journal of Applied Physiology, 58, 744.

El-Garf, A K, Mahmoud, G A and Mahgoub, E H (1998). ‘Hypermobility among Egyptian children: Prevalence and features’, Journal of Rheumatology, 25, 5, 1003-05.

Larsson, L G, Baum, J and Mudholker, G S (1987). ‘Hypermobility: Features and differential incidence between the sexes’, Arthritis and Rheumatology, 30, 1426-30.

Engle, R P and Canner, G C (1989a). ‘Posterior shoulder instability: Approach to rehabilitation’, Journal of Orthopaedic and Sports Physical Therapy, June, 488-494.

Larsson, L G, Baums, J, Mudholker, G S and Sprivastava, D K (1993). ‘Hypermobility: Prevalence and features in a Swedish population’, British Journal of Rheumatology, 32, 116-119.

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Lewkonia, R M (1987). ‘Annotations: Hypermobility of joints’, Archives of Disease in Childhood, 62, 1-2. Lewkonia, R M and Ansell, B M (1983). ‘Articular hypermobility simulating chronic rheumatic disease’, Archives of Disease in Childhood, 58, 988-992. Liu, S H, Rong-Sen, Y, Al-Shaikh, R and Lane, J N (1995). ‘Collagen in tendon, ligament and bone healing: A current review’, Clinical Orthopaedics and Related Research, 318, 265-278. McArdle, W D, Katch, F I and Katch, V L (1996). Exercise Physiology: Energy, nutrition and human performance, Williams and Wilkins, Baltimore, 4th edn. Mishra, M B, Ryan, P, Atkinson, P, Taylor, H, Calver, D, Fogelman, I, Child, A, Jackson, G, Chambers, J B and Grahame, R (1996). ‘Extraarticular features of benign joint hypermobility syndrome’, British Journal of Rheumatology, 35, 9, 861-866.

Key Messages

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Morrissey, M C, Harman, E A and Johnson, M J (1995). ‘Resistance training modes: Specificity and effectiveness’, Medicine and Science in Sports and Exercise, 27, 5, 648-660. Qvindesland, A and Jónsson, H (1999). ‘Articular hypermobility in Icelandic 12-year-olds’, Rheumatology, 38, 1014-16. Sharma, L and Pai, Y C (1997). ‘Impaired proprioception and osteoarthritis’, Current Opinion in Rheumatology, 9, 3, 253-258. Vulker, F J, Elvers, J W and Oostendorp, R A (1996). ‘Hypermobiliteit van gewrichten: Een onderzoek naar de betrouwbaarheid van het meetinstrument volgens Beighton’, Nederlands Tijdschrift Voor Fysiotherapie, 106, 3, 74-80. Wynn, K S and Eckel, E M (1986). ‘Juvenile rheumatoid arthritis and home physical therapy program compliance: Parental compliance’, Physical and Occupational Therapy in Pediatrics, 6, 1, 55-63.

■ Hypermobility syndrome is a source of musculoskeletal complaints in children.

■ Providing a specific muscle training programme for children with hypermobility is a role for physiotherapy.

■ Deficient ligament structure compromises joint stability.

■ Initial data support rationale for physiotherapy.

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