1. Una Jones PhD Student A NISCHR CRC adopted study

2. Huntingtons disease http://www.kumc.edu/hospital/huntingtons/gene.gif http://www.scq.ubc.ca/wp-content/uploads/2006/08/brain(1).gif Motor deficits Cognitive problems Behavioural problems

3. Huntingtons disease Pre-symptomatic Early stage Mid stage Late stage Death Usual cause Respiratory failure 15-20 years

4. Peripheral pathology in people with HD Van der Burg 2009

5. Respiratory function Air in Cough out

6. Primary research question Is there a difference in respiratory function in people with HD compared to healthy controls at different stages of the disease?

7. Study design:1 Observational cross sectional study Subjects: 6 pre-manifest, 9 mid-stage, 11 late stage Outcome measures: Forced vital capacity (FVC), Forced expiratory volume in 1 second (FEV 1 ) Peak cough Flow (PCF)

8. Study design:2 Correlation: Relationship between lung function and exercise capacity and self reported physical activity Subjects: 18 people with HD who were able to walk with or without assistance. Dependant variables: International Physical Activity Questionnaire; 6 minute walk test Independent variables: Forced vital capacity; Total motor score

9. Results:1 Significant differences found between 3 stages of the disease for all respiratory function outcomes 270 L/min

10. Results:1 Lung function (FVC; FEV 1 ) was below predicted values in the middle and late stage 106 73 24 FVC % predicted

11. Results:2 FVC correlated with 6MWT and IPAQ (r= 0.44, 0.61 respectively); UHDRS-TMS correlated negatively with 6MWT and IPAQ (r = -0.63, r = -0.42 respectively). Linear regression results: UHDRS-TMS predicted 6MWT (R 2 = 0.40, FVC was excluded; FVC predicted IPAQ (R 2 = 0.37, UHDRS-TMS was excluded.

12. Conclusions Respiratory function in middle and late stages are decreased compared to pre-manifest The decline in PCF impacts on the ability to cough and maintain clear airways

13. Conclusions In patients with HD, 6MWT is more influenced by UHDRS-TMS than respiratory function, however respiratory function predicted self-reported physical activity level; The ability to function and participate in activities is multifactorial which requires consideration for physiotherapy management of people with neurodegenerative conditions.

14. The study continues Projected recruitment: 20 pre-manifest, 20 early, 20 middle, 20 late 40 matched healthy control Other measures: Respiratory muscle strength & endurance, exercise capacity, physical activity, posture, function, swallow

15. Implications Development of A care pathway for the management of respiratory problems in people with Huntingtons disease

16. How does it fit in with SOHCS? PhDMScBSc MScBSc

17. Thanks Dr Stephanie Enright Dr Monica Busse Prof Anne Rosser and all the clinical team Dr Robert van Deursen Physiotherapy Research Foundation Research capacity building collaboration Wales