1. Clinical Problem Solving II: Case Presentation FALL 2017
Jake Hillyard

2. Clinical Details and Patient Intro
Clinical experience at a local Acute Care Hospital spending majority of time on Cancer treatment and Pediatric units
15 yr. old male
Scoliosis secondary to Friedrich’s ataxia
Reason for Admission: Posterior Spinal Fusion performed to correct scoliosis (T2-L4)

3. Friedrich’s Ataxia
Inherited non-congenital autosomal recessive (FXN gene)
Mutated gene inhibits creation of protein frataxin
Frataxin helps transport iron and is crucial to mitochondria function
Specific spinal nerve cell degeneration- primary cause of noticeable symptoms
“GAA” repeats in DNA sequence ( )
Curefa.org

4. Friedrich’s Ataxia cntd.
3 Major manifestations: Scoliosis(Y), Hypertrophic Cardio Myopathy(N), Diabetes(N)
Most commonly diagnosed between 5-18 yrs. Late onset less common
Common signs and symptoms: Impaired coordination, fatigue, diminished wound healing, vision impairment, hearing impairment, slurred speech
Mental capacity remains intact
Most early diagnoses result in mobility aids such as walker or wheelchair by late teens to early twenties.
Curefa.org

5. Initial Evaluation post op day 1
Subjective Findings:
Prior level of function: Independent with frequent falls
“Walks like a drunken sailor” –per mom
Home situation:
2- story private residence
5 steps to enter
Lives with mom and siblings
No current DME used
“I can’t do this” at initiation of movement
Pain: 10/10 – rib cage, constant

6. Initial Evaluation post op day 1 cont’d.
Objective Findings:
Bed Mobility:
ROM: Generally decreased, functional
Rolling- Max assist
Supine to Sit- Max assist
Strength: Generally decreased, functional
Scooting- Max assist
Transfers:
Tone: Abnormal- increased
Sit to Stand: Mod assist
Sensation: Intact
Stand to sit: Min assist
Coordination: Markedly decreased
Stand Pivot: Assist x2
Gait:
5 feet to chair- assist x2
Widened stance, valgus knees, ataxic

7. ICF Model Impairments Participation Restrictions Activity Limitations
Pain
Increased tone
Participation Restrictions
Decreased coordination
Difficulty with mobility at school
Decreased strength
Altered social life
Decreased motor control
Dependent on others for transportation
Impaired balance
Activity Limitations
Abnormal gait due to pain and ataxia
Difficulty transferring
Difficulty with bed mobility

8. Treatment Plan Bed Mobility Transfer training Gait training
Endurance
Patient/Family Education
Back precautions
Home management
Activity pacing

9. Treatment Goals Within 4 days, patient will be able to:
Move from supine to sit and sit to supine with min assist
Perform sit to stand with supervision/set-up
Ascend/descend 5 stairs with 1 handrail with min assist
Verbalize and demonstrate back precautions accurately

10. Treatment post op day 1 p.m. session
Gait Training: Ambulated 15 ft. with two-hand hold mod assist in front with stand by assist from behind.
Mod assist with sit to supine
Complained of nausea and pain 7/10

11. Treatment post op day 5
Ambulated 50 ft. (10, 10, 30) with mom providing two-hand grasp from front
Ascended/Descended 3 stairs with min assist x1
Bed Mobility with mom provided assistance:
Supine to sit- mod assist
Sit to supine – stand-by assist
Scooting – stand-by assist

12. Clinical Question
For a 15 year old male patient with Friedreich’s Ataxia, would motor training and coordination exercises performed post-operatively improve functionality and gait following a posterior spinal fusion?
Hypothesis: Yes, I believe that motor training and coordination exercises following a posterior spinal fusion will improve my patient’s functionality and gait as his body adjusts to it’s new anatomical alignment.

13. Systematic Review
Motor Training in Degenerative Spinocerebellar Disease:
Ataxic-Specific Improvements by Intensive Physiotherapy and Exergames
Synofzik, M. Winfried, I.
Published in BioMed Research International
2014. Vol Article ID

14. Inclusion Methods Time Period of January 1, 1980 – December 18, 2013
Articles were included if they met the following criteria:
Original report
Prospective clinical trial examining physiotherapy interventions
High-intensity training over an extended period of time
Control design
Patients with spinocerebellar degeneration (not secondary)
Originally n = 578, only 3 met criteria

15. Article #1 Cerebellar Ataxia Rehabilitation Trial in
Degenerative Cerebellar Diseases
Ichiro, M. Mizuki, I. et al.
Published in Neurorehabilitation and Neural Repair
2012. Vol. 26 ( )

16. Study Details Design Participants
Randomized Controlled Trial and Observational Study
N = 42 (21 in each group)
Mean age 62.5
2 Intervention groups- immediate and delayed
Outcome Measures
All participants received same intervention for 4 weeks- PT focused on improving balance and gait
SARA- Scale for the Assessment and Rating of Ataxia (0-40)
FIM
1 hr of PT + 1 hr of OT on weekdays, 1 hr of either on weekends
Also gait speed, falls, cadence, FAC
Data collected at 0, 4, 12, and 24 wks after intervention.

17. Results- Short term (RCT)

18. Results – Long Term

19. Conclusion/Limitations
Intensive rehabilitation interventions showed significant improvements in SARA scores, gait speed, FIM, and fall frequency in patients with spinocerebellar ataxia in the short term. Unfortunately when the therapy was discontinued, these gains were lost as outcomes mostly returned to their pre-intervention levels.
Limitations
Lack of specificity in type of cerebellar ataxia (afferent or cerebellar)
Age Average!
No video examination to ensure complete blinding
High number of interventions
Increased motivation in weeks post-intervention?

20. Article #2 Video game-based coordinative training improves
ataxia in children with degenerative ataxia
Ilg, W. Schatton, C. Schicks, J. Giese, M. Schols, L. Synofzik, M.
Published in Neurology
2012 :
Class III evidence

21. Study Details Design N = 10 Prospective Cohort Study Mean Age: 15.4
8 wks coordinative training on Microsoft XBOX Kinect (2 wks in lab, 6 wks at home)
4/10 had FA
Outcome Measures
Assessments performed at 4 intervals, E1-E4.
SARA
2 weeks prior
DGI
Immediately prior
ABC
After 2 week lab training
After 6 weeks home training
Patient’s acted as own control
Participants

22. Study Details cntd. XBOX Kinect Training Table Tennis Light Race
20,000 Leaks
Movement Goals
Goal directed limb movements
Dynamic balance
Whole-body coordination
Rapid reactions
Recalibrate movement predictions
4 -1 hour training sessions/wk
Data gathered via VICON MX motion capture system for movement analysis

23. Results
- Children with FA

24. Results cntd.

25. Conclusions/Limitations
Children with degenerative ataxia were shown to make improvements in dynamic balance activities such as gait as evidenced by improved SARA scores, DGI, and quantitative movement analysis. Video game-based coordinative training provided a fun, inexpensive, and motivating method for potential long term retention of measured gains.
Limitations
Small sample size
Varying ataxia subsets (afferent vs cerebellar)
Potential practice bias between E1-E2
Subjectivity of practice effort at home

26. Final Conclusions
For a 15 year old male patient with Friedreich’s Ataxia, would motor training and coordination exercises performed post- operatively improve functionality and gait following a posterior spinal fusion?
Yes, I do believe that coordination/motor-control based rehabilitation would be beneficial for my patient. Although the evidence showed limited effect on gait, overall functionality was improved if the interventions were sustained for an extended period of time.
If I were to treat a patient similar to this in the future, I would not hesitate to initiate balance and coordination training in addition to motor control activities post surgery.

27. References
Synofzik, M., & Ilg, W. (2014). Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames. BioMed Research International, 2014, doi: /2014/ Miyai, I., Ito, M., Hattori, N., Mihara, M., Hatakenaka, M., Yagura, H., Nishizawa, M. (2011). Cerebellar Ataxia Rehabilitation Trial in Degenerative Cerebellar Diseases. Neurorehabilitation and Neural Repair,26(5), doi: / Ilg W, Schatton C, Schicks J, et al. Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology. 2012;79:2056–60.

28. Questions?