Practical management of ataxia and balance impairment: Part 2
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The document discusses the practical management of ataxia and balance impairments, identifying various signs and symptoms associated with ataxia, such as gait and speech impairments. It includes information on assessment methods, treatment guidelines, and research findings related to rehabilitation and balance control in patients with cerebellar disease. The document emphasizes the need for ongoing research and clinical trials to evaluate the effectiveness of targeted interventions and general balance exercises.
Practical management of ataxia and balance impairment: Part 2
- 1. Practical management of ataxia and balance impairment: Part 2 Tuesday 5th November 2013 Dr Lisa Bunn
- 2. What do we mean when we talk about ataxia? Test yourself on the full spectrum of ataxia signs and symptoms: B…… I………. G… I……… St…… B……. Si….. B……. In……….. Sp…. I……… (D……..) Sw….. I…….. (D……) D…………….. T….. D……. Ab…… E.. M……… N……. S….. P…… D…….. S…… Plus symptoms: V…… B…… V……. (O……..)
- 3. What do we mean when we talk about ataxia? Balance Impairment • Gait Impairment • Standing Balance • Sitting Balance Incoordination Speech Impairment (Dysarthria) Swallow Impairment (Dysphagia) Dysdiadochokinesia Tremor Dysmetria Abnormal Eye Movements • Nystagmus • Smooth Pursuit • Dysmetric Saccades Plus symptoms: Vertigo Blurred Vision (Oscillopsia)
- 4. Neuro-radiology SCA8 severe cerebellar atrophy MS cerebellar plaques Hain (2012) http://www.dizziness-and-balance.com/disorders/central/ms.htm
- 5. Functional consequences still remain hard to predict… Imamizu H et al. PNAS 2003;100:5461-5466
- 6. Assessment • • • • • • • Disease severity • SARA Balance impairment • Kinematics, functional reach, Berg, BESTest, ABC questionnaire, BalSARA Gait impairment • Kinematics, the rivermead gait assessment, timed 10m walk, 6 minute walk, TUG Oculomotor • Oculomotor examination Inccordination • 9 hole PEG test Speech • PATA test (30s) Dysphagia • Swallow assessment
- 7. Assessment • Disease severity • The Scale for Assessment and Rating of Ataxia (SARA) http://www.ataxie.nl/wp-content/uploads/diversen/SARA.pdf
- 8. Ataxia UK’s 2013 (updated guidelines) are about to be released… • Cover all aspects of management • Marsden, Bunn, Kilbride et al., 2013 • Physiotherapy supplement (may be published elsewhere this year) • Now 20 further therapy studies (20092013) and a systematic review
- 9. To what types of ataxia do the guidelines refer? • MS is only one cause of ataxia Stroke Cerebellar / posterior fossa tumours Foramen magnum compression Multiple system atrophy Gluten intoxication Carbon monoxide poisoning Sensory loss Hypothyroidism from peripheral Traumatic brain injury Chronic neuropathy alcoholism Inherited types: Spino-cerebellar ataxias (SCA1,2,3,6) Friedrich’s ataxia Ataxia-telangectasia Todd and Arbor (2009) http://www.els.net/WileyCDA/ElsArticle/ref1d-a0021592
- 10. Rehabilitation of balance The evidence base is accumulating… •Informed by investigation of balance in people with pure types of cerebellar disease (Bunn, UCL libraries, 2010) •Effectiveness evaluated by 4 clinical trials: » Ilg et al., 2009, 2010 (adult) » Ilg et al., 2012 (paediatric) » Miyai et al., 2012 (adult, RCT) » Bunn et al., 2013 (adult, pilot RCT, in submission) •Sample size estimates and validation of outcome measures – Bunn et al., 2013 •Fully powered RCT planned 2015.
- 11. Ilg et al., 2009-2012 Ilg et al., 2009, 2010 (adult) •General balance exercises •Intensive rehab (inpatient) •Community exercise as follow-up •1 year follow-up effects reported Ilg et al., 2012 (paediatric) •Exer-gaming •Progressive ataxias •Improvements observed •SARA, balance and gait •Feasibility established •Underpowered & mixed groups
- 12. Quantifying balance impairment Fig. 1: 40s trunk sway Fig. 2: Correlation between sway speed & SARA Potential for a continuous measure of disease severity from which disease progression and intervention effects could be measured. Bunn et al., Mvt Dis, 2013
- 13. Applications of ‘quantifying balance’ findings A continuous measure of: •Balance impairment – more sensitive to change than Berg or Bal-SARA •Disease severity from which disease progression could be measured. •Intervention effects in future RCTs Support for use of othoses (Ramdharry et al., 2006)
- 14. Research hypothesis Sensory processing for balance control is disrupted in persons with cerebellar disease pathology.
- 15. Research approach Human model of pure cerebellar disease pathology (SCA6) Whole body sway responses to sensory stimuli •Moving visual scenery (MVS) •Galvanic vestibular stimulation (GVS) •Muscle vibration (VIB) • Tibialis anterior and gastrocnemius)
- 16. Method Randomised trials: Direction Modality No-stimuli Measures of body sway: Trunk markers (C7) Force responses
- 18. Translational neuroscience: From lab to living room… Can we train avoidance of moving visual cues for balance in order to increase reliance on vestibular and proprioceptive control? • • • • Pilot of 12 subjects with SCA6 Regime of balance exercises (15min/day) MVS played during exercise 4 week baseline, 4 week intervention (therapy/control groups)
- 19. Method
- 21. Results: Feasibility • Feasibility: of home-based balance training, assessment, trial design and technology: iPod touch, XSens MTx and software for sway measures. • Dropout: rates ascertained: 2/12 (T=1, C=1). • Impact: Daily fatigue VAS scores were not affected by training. Training times documented mean 20mins/day, x5 per week. • Adverse events: Advice for those with ear infections to avoid training.
- 22. Pilot results
- 23. Subjective experiences “I feel stiller and as a result I am fitter-I managed to carry 18 paving slabs from my back garden to the allotment, which I don’t think I could have done before.” “I enjoyed the daily training and it’s made me more motivated to do something else now that the study has finished”. “The trial has made me more aware of tying things together- double vision, losing temper, depression, all connected with tiredness.”
- 24. Applications of ‘investigating balance’ findings • General exercises could help to restore balance for people with ataxia • Targeted balance interventions could provide additional benefits at impairment, functional and participation levels • We now have the tools to embark on RCTs of therapy options • Before effectiveness of targeted interventions is established we can try general balance exercises and monitor disease progression with the SARA
- 25. Clinical advances and remaining questions • SARA (Schmidt-Hubsch et al., 2006) • Berg • Sway test (Lord, 1998) • Balance impairment measures (Clark et al., GaitPost, 2010; WeeWiihabilitation, Brady et al.,2013, in preparation) • How do non-ataxia signs affect our understanding of balance?
- 26. Questions? Thanks to: UCL (sponsor) NHNN (NHS sponsor) Ataxia UK (funders & sponsors) Prof Brian Day Prof Jonathan Marsden Dr Paola Giunti All participants and their families.
- 27. Key Structure References • Apps and Garwicz, 2005, Anatomical and Physiological Foundations of Cerebellar Information Processing. Neuroscience. Nature reviews. Vol 6. p297-311. – Available for free download at: https://www.stanford.edu/group/brainsinsilicon/documents/GarwiczInfoProc.pd • Brain atlas: – http://www.med.harvard.edu/AANLIB/cases/casesNA/pb9.htm • Buttner N, Geschwind D, Jen J, Perlman S, Pulst S, Baloh R (1998) Oculomotor Phenotypes in Autosomal Dominant Ataxias Arch Neurol. 55:1353-1357 – Available for free download at: http://archneur.ama-assn.org/cgi/reprint/55/10/1353.pdf • Purves D, Augustine GJ, Fitzpatrick D, et al., 2001. Neuroscience. 2nd edition. Chapter 19: Organisation of the Cerebellum. Sunderland (MA): Sinauer Associates
- 28. Key Function References • Apps and Garwicz, 2005, Anatomical and Physiological Foundations of Cerebellar Information Processing. Neuroscience. Nature reviews. Vol 6. p297-311. – • • • • • • • Available for free download at: https://www.stanford.edu/group/brainsinsilicon/documents/GarwiczInfoProc.pdf Babinski J (1899) De l’asynerhie cerebelleuse. Rev Neurol. Vol.7. p685-686. Bastian, AJ (2011) Moving, sensing and learning with cerebellar damage. Current Opinion in Neurobiology. Vol.21. p1-6. Braitenberg V, Atwood RP (1958) Morphological observations of the cerebellar cortex. J Comp. Neurol. Vol 109. p1-33. Boyden ES, Katoh A & Raymond JL (2004) Cerebellum dependent learning: The role of multiple plasticity mechanisms. Annu Rev Neurosci. Vol 27. p581-609. Houk JC, Buckingham JT & Barto AG (1996) Models of the cerebellum and motor learning. Behav Brain Sci. Vol. 19. p368-383. Thatch WT (1996) On the specific role of the cerebellum in motor learning and cognition: clues from PET activation and lesion studies in man. Behav Brain Sci. Vol 19. p411-431. Thatch WT (1998) A role for the cerebellum in learning movement coordination. Neurobiol Learn Mem. Vol 70. p177-188.
- 29. Key Assessment References • • • • • • Schmitz-Hubsch, T, Fimmers, R, Rakowicz M, Rola R., Zdzienicka, E, Fancellu R, Mariotti C, Linnemann C, Schols L, Timmann D, Filla A, Infante J, Giunti P, Kremer B, van de Warrenburg BPC, Baliko L, Melegh B, Depondt C, Schulz J, Tenezes de Montcel S, and Klockgether T (2009). Responsiveness of different rating instruments in spino-cerebellar ataxia patients. In press. Schmitz-Hubsch, T. Clinical assessment of a patient with spinocerebellar ataxia - the challenge of research. SchmitzHubsch, T. 1-8. 2006. 2006. Schmitz-Hubsch, T., Tezenas du Montcel, S., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, J. S., Kremer, B., Mariotti, C., Van De Warrenburg, B. P., Melegh, B., Pandolfo, M., Rakowicz, M., Ribai, P., Rola, R., Schols, L., Szymanski, S., Durr, A., and Klockgether, T. (2006). Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 66, 1717-1720. Schmitz-Hubsch, T., Coudert, M., Bauer, P., Giunti, P., Globas, C., Baliko, L., Filla, A., Mariotti, C., Rakowicz, M., Charles, P., Ribai, P., Szymanski, S., Infante, J., Van de Warrenburg, B. P. C., Durr, A., Timmann, D., Boesch, S., Fancellu, R., Rola, R., Depondt, C., Schols, L., Zdienicka, E., Kang, J.-S., Dohlinger, S., Kremer, B., Stephenson, D. A., Melegh, B., Pandolfo, M., Di Donato, S., du Montcel, S. Tezenas, and Klockgether, T. (2008). Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology 71, 982-989. du Montcel, Sophie Tezenas, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Bayon, Alice Le, Labauge, Pierre, GuyantMarechal, Lucie, Forlani, Sylvie, Jauffret, Celine, Vandenberghe, Nadia, N'Guyen, Karine, Ber, Isabelle Le, Devos, David, Vincitorio, Carlo Maria, Manto, Mario Ubaldo, Tison, Francois, Hannequin, Didier, Ruberg, Merle, Brice, Alexis, and Durr, Alexandra (2008). Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain awn059. Duke, J., McEvoy, M., Sibbritt, D., Guest, M., Smith, W., and Attia, J. (2007). Vibrotactile threshold measurement for detecting peripheral neuropathy: defining variability and a normal range for clinical and research use. Diabetologia 50, 2305-2312.
- 30. Key Disease References • Ataxia UK (2009) Management of the ataxias: towards best clinical practice. – • • • • Bastian AJ, Martin T, Keating J, Thatch W (1996) Cerebellar ataxia: abnormal control of interaction torques across multiple joints. Journal of neurophysiology. Vol. 76(1). p.492-509vol. 76 no. 1 492-509 Bastian, AJ (2011) Moving, sensing and learning with cerebellar damage. Current Opinion in Neurobiology. Vol.21. p1-6. Klockgether, T(Ed) (2000) Handbook of Ataxia. Informa Healthcare Publishers. Buttner N, Geschwind D, Jen J, Perlman S, Pulst S, Baloh R (1998) Oculomotor Phenotypes in Autosomal Dominant Ataxias Arch Neurol. 55:1353-1357 – • • • • • Available for free download at: http://www.ataxia.org.uk/pages/resources-and-publications.html Available for free download at: http://archneur.ama-assn.org/cgi/reprint/55/10/1353.pdf Horak FB, Diener HC. (1994) Cerebellar control of postural scaling and central set in stance. J Neurophysiol 72: 479–493. Liu et al. (1997) Analysis if action tremor and impaired control of movement velocity in Multiple Sclerosis during visually guided wrist tracking tasks. Movement Disorders. Vol 12 (6). p992-999. Marsden, J and Harris, C (2010) Cerebellar ataxia: Pathophysiology and rehabilitation. Clinical rehabilitation. Vol 25 (3). P195-216. Mauritz KH, Dichgans J, Hufschmidt A (1979) Quantitative analysis of stance in late cortical cerebellar atrophy of the anterior lobe and other forms of cerebellar ataxia. Brain. Vol 102. p461-482. Schmahann and Scherman (1998) The cognitive affective syndrome. Brain. Vol 121. p561-579.
- 31. Key Management References • Freeman JA, Gear M, Pauli A, Cowan P, Finnigan C, Hunter H, Mobberley C, Nock A, Sims R, Thain J. The effect of core stability training on balance and mobility in ambulant individuals with multiple sclerosis: a multi-centre series of replicated single case studies. (Online ahead of publication in Multiple Sclerosis June 16th 2010) • Hall, J., Freeman, J. A., Zaijeck, J., Hobart, J. C. & Marsden, J. F. (2010) 'Factors influencing the applied torque during manually applied plantarflexor stretches in people with Multiple Sclerosis In:Chartered society of physiotherapy (CSP) Congress', Liverpool, 15-16 Ocotber 2010 (UK ), pp. Chartered Society of Physiotherapy. • Wardle M and Robertson N (2007) Progressive Late-Onset Cerebellar Ataxia (Review) ACNR 7:2, p6-12 – Medical orientated review
- 32. Key Research References • Bunn L: Sensory mechanisms of balance control in pure cerebellar disease. University College London; 2011. • Bunn LM, Marsden JF, Giunti P, Day BL: Stance instability in spinocerebellar ataxia type 6. Mov Disord 2012, 28:510– 516. • Ilg W, Synofzik M, Brötz D, Burkard S, Giese M a, Schöls L: Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 2009, 73:1823–30. • Ilg W, Schatton C, Schicks J, Giese M, Schols L, Synofzik M: Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology 2012, 79:2056–60.
Editor's Notes
- #5: Typically difficult to diagnose using radiology alone – especially for the inherited types of ataxia where a family history in conjunction with neur Ax and genetic testing are typically the best diagnostic method.
- #6: http://www.pnas.org/content/100/9/5461/F1.expansion.html#ref-40 Figure 1 Flattened view of cerebellar surface illustrating that anterior lobe and intermediate parts of posterior lobe are related to “motor and somatosensory functions,” whereas lateral posterior cerebellum is related to “cognitive functions.” (a) Arrows indicate difference between “motor” and “cognition” found in previous neuroimaging studies. (b) Arrows indicate modularity within lateral posterior cerebellum for two different cognitive functions. Illustrations were modified from refs. 39 and 40
- #8: Show of hands how many people use the SARA? How many people know of it?
- #14: http://anklefootorthosisguide.org/ Ground reaction AFO
- #23: Some things got worse… Could be due to the data collection period… November to Feb 2010-11… Thankfully most scores relating specifically to balance were either maintained or improved in those receiving the intervention. Of most interest in this proof of principal study are the objectively scored impairment measures (sway, SARA and Bal-SARA).
- #25: http://anklefootorthosisguide.org/ Ground reaction AFO
- #27: Thank you to Ataxia UK