Respiratory Care in FSHD

1. Respiratory Care in FSHD Lee Guion MA, RRT, FAARC FSHD Family Day Conference July 15, 2017

2. Respiratory Care in FSHD: Overview • American Academy of Neurology Guidelines (2015) • Incidence of respiratory insufficiency in FSHD • Assessment of lung function (recommendations) • Treatment/management options (2015 AAN) • Chronic nocturnal respiratory insufficiency • Noninvasive bi-level positive pressure ventilation (NIV) • Acute respiratory failure (2017 ERS/ATS) • Noninvasive bi-level positive pressure ventilation (NIV) • Strategies for lung health (2017 LRG) • 7 Steps to healthy lungs

3. Respiratory Care in FSHD • American Academy of Neurology Guidelines (2015) Systematic review of medical literature focused exclusively on FSHD by panel of clinicians with FSHD expertise following AAN process (quality of research) • Respiratory abnormalities • Decreased lung function • Daytime symptoms of nocturnal hypoventilation • Frequency of respiratory insufficiency • 1.25% - 13% • Severity also difficult to estimate

4. Respiratory Care in FSHD • American Academy of Neurology Guidelines (2015) Respiratory insufficiency associated with: • Scoliosis or kyphoscoliosis • Obesity with abdominal distension • Severe proximal weakness • Wheelchair dependence • Co-morbidities: chronic pulmonary or cardiac disease • Respiratory muscle weakness (diaphragm)

5. Respiratory Care in FSHD • American Academy of Neurology Guidelines (2015) • Pulmonary assessment • Baseline spirometry on ALL patients • Monitor routinely if abnormal or with • Spinal abnormalities (scoliosis/kyphoscoliosis) • Decreased mobility or inability to ambulate • Lung or heart disease • Reported daytime symptoms of sleep disordered breathing

6. Respiratory Care in FSHD • American Academy of Neurology Guidelines (2015) • Sleep disordered breathing (SDB) • Causes • Weakened breathing muscles shallow breathing  increased carbon dioxide/decreased oxygen fragmented sleep decreased REM sleep • Symptoms • Awakening unrefreshed • Feeling sleepy during the day and needing naps • Frequent nocturnal arousals • Morning headaches

7. Respiratory Care in FSHD • American Academy of Neurology Guidelines (2015) • Recommendations for respiratory insufficiency • (FVC <60% of predicted) or • reported symptoms of SDB • Referral to pulmonologist or sleep medicine specialist • Treatment with noninvasive positive pressure ventilation (NIV) • at night • to rest lung muscles during the day if needed

8. Respiratory Care in FSHD • Recommendations for acute hypercarbic (CO2) or hypoxemic (O2) respiratory failure • Noninvasive ventilation (NIV) • (European Respiratory Society/American Thoracic Society Guidelines 2017) • Recommendations for extubation and preventing reintubation • Noninvasive ventilation (NIV) • (American Thoracic Society/American College of Chest Physicians Guidelines 2017)

9. Respiratory Care in FSHD • Lee’s 7 steps to lung health STEP 1 • Attend a multidisciplinary muscular dystrophy clinic • Consistent, coordinated, integrated, compassionate care • One stop shop • Neurologist, RT, PT, OT, SW, representatives from support organizations (MDA) • Research participation opportunities

10. Respiratory Care in FSHD STEP 2 • Vaccinations • Pneumococcal polysaccharide pneumonia vaccine (PPSV23 – Pneumovax) • Pneumococcal conjugate vaccine (PCV13 – Prevnar) • Annual influenza vaccine (you and family members) • Avoid infective agents (hand washing, distance, masks) • Practice good oral hygiene. Get recommendations for adaptations from OT if brushing/flossing is difficult

11. Respiratory Care in FSHD STEP 3 • Treat symptoms of upper respiratory tract infection and seasonal rhinitis (to help reduce chances of lower airway infection) • Learn about early detection of lower respiratory tract infection (fever, malaise, prolonged lethargy) • Seek medical attention early and do not delay

12. Respiratory Care in FSHD STEP 4 • Good hydration • Maintain healthy electrolyte balance • Positive and negative ion exchange (largely sodium and chloride) will assist with normal mucus production, natural mucosal reabsorption and removal of lower respiratory tract secretions

13. Respiratory Care in FSHD STEP 5 • Maximize nutrition • Malnutrition increases risk of infection (immunosuppression) • Increased work of breathing/increased respiratory rate = more calories/energy consumed by breathing • Nutritional supplements if recommended • Smaller, more frequent meals • Consult nutritionist

14. Respiratory Care in FSHD STEP 6 • Movement and Safe Exercise • Stretching (reduces stiffness, improves circulation) • Moderation (do not overwork muscles, rest weak muscles) • Coordinate exercise/movement with breath work • Benefits • Increases blood neutrophil counts and • Helps maintain lymphocyte counts to improve immune function and response to infection • Improves gas exchange (oxygen/carbon dioxide) • Psychological/emotional benefits

15. Respiratory Care in FSHD STEP 7 • Get a good night’s sleep • Quantity (aim for 8 to 9 hours) • Quality (restorative sleep) • Awakening refreshed • Ability to be alert throughout the day • Address barriers to sleep • Shallow breathing and drops in oxygen • Pain or discomfort • Difficulty repositioning • Worry and intrusive thoughts

16. Respiratory Care in FSHD Thank You! guionlr@gmail.com Neurology Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Rabi Tawil, John T. Kissel, Chad Heatwole, et al.
Neurology 2015;85;357-364