Musculoskeletal

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Symptoms What to look for/be aware of Investigation & treatment and/or referral pathway Further reading

Mobility

  • Gross motor skills are delayed or sometimes lost later but not in all patients.
  • Gaited walk, toe walking and contractures are common.
  • Maintaining mobility and function is critical to the long term health and well-being of patients with Rett Syndrome.
  • Achievement of all developmental milestones may not always be possible but the ability of some individuals with Rett Syndrome should not be underestimated. All goals should be planned on an individual basis.
  • Some individuals do not achieve independent standing or walking ability. It is important to provide a means of assisting these skills with specialised equipment which is under regular review. Budget provision is made for this purpose.
  • Individuals with Rett struggle with motor planning necessary to change from one position to another. Postural transitioning is as vital as sitting and standing in terms of independence. Regular therapy review and guidance for care givers is vital to develop these skills and/or to maintain the ability to transfer independently for as long as possible.
  • Manual handling policies may also inadvertently deny experience and opportunity to individuals who have achieved these skills, particularly as they get older. This can negatively impact other aspects of physical and emotional health and well-being including; bowel function, sleep/wake cycle, socially, scoliosis and communication.
  • Active preservation of mobility is crucial for every aspect of the individual’s welfare that alternative provision is put in place to maintain mobility and function.
  • Refer to wheelchair services and physiotherapy.
  • Patients who are able to, should be encouraged to actively take part in exercise to whatever degree they are able to improve overall prognosis.
  • Individuals with Rett Syndrome who are able to weight bear in standing position, with or without support, should be encouraged to use this skill as much as possible for a minimum of 2 hours per day.
  • All non-ambulatory individuals with Rett Syndrome should have access to specific standing equipment tailored to their needs and use it for a total of at least 2 hours per day. This equipment should be reviewed by a therapy team and serviced on a regular basis with adequate provision of funds for repair and replacement as required. Standing equipment should be used on a daily basis and incorporated into meaningful activity at home or school environment. Care givers should be given guidance and support by the therapy team to achieve this.
  • Orthoses if used should be routinely reviewed. Budget provision should be planned for this and orthoses replaced/altered as the need arises.
  • Active dynamic moment is vital for children and adults with Rett Syndrome. Activities such as water play, horse riding, use of adapted tricycles and daily exercise can help in maintaining physical skills. Patients should be encouraged to actively take part in exercise to whatever degree they are able, to improve overall prognosis.
  • Individuals with Rett struggle with motor planning necessary to change from one position to another. Postural transitioning is as vital as sitting and standing in terms of independence. Regular therapy review and guidance for care givers is vital to develop these skills and/or to maintain the ability to transfer independently for as long as possible.
  • Vigilance regarding injury, pressure sores, anxiety and other problems is vital as it will impact on the individual to reach full physical potential. Issues should be addressed immediately.
  • Pro-active early response and vigilance in trouble- shooting any problem that interferes with mobility is key.

Scoliosis

  • Affects approx. 80% of patients.
  • Asymmetries in movement and range of movement.
  • Higher risk in low muscle tone and non-mobile group.
  • Consider impact on lung function.
  • Annual checks but bi-annual during puberty.
  • Referral to orthopaedic team.
  • Continual monitoring of spinal integrity. Dynamic bracing.
  • Promote standing and weight bearing minimum 2hrs per day.
  • Risk of curve continuing to increase into adulthood – continue to monitor.
  • Any change – refer back to spinal team.

Osteopenia / Osteoporosis

  • Risk of fractures – low threshold for X Rays as pain can also be masked.
  • Anti-convulsant medications increase risk especially sodium valproate.
  • Fractures, low bone density.
  • Vitamin D deficiency is common in children and adults with Rett Syndrome.
  • Blood test to check vitamin D levels at baseline.
  • Six week course of high dose Vit D for adults identified with Vit D deficiency (20,000 iu weekly) before commencing 800iu recommended daily for adults as well as calcium supplements.
  • For children and young people aged 1 yr and older, supplement 400iu daily.
  • Consider Dexascan.
  • Bisphosphonates – tablet or injection.
  • Joint Deformities including leg length discrepancy and hip subluxation/risk of dislocation

Joint Deformities including leg length discrepancy and hip subluxation/risk of dislocation

  • Constant visual check.
  • Vigilance around symmetry.
  • Weightbearing.
  • Subtle changes in posture.
  • Recognise change and possible pain from hips which may degenerate in older people.
  • Encourage functional activity to the individual’s potential.
  • MDT/OT/ Orthopaedic Referral.
  • Regular changes of position which aims to maintain a full range of movement through all joints. Maintaining walking and standing for as long as possible.
  • Hips and spine should be checked annually by X Ray.
  • Hip resurfacing may relieve pain.
  • Gabapentin may be of benefit in pain related to hip subluxation, as may focal botulinum toxin injections.
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