10/26/2017. Dysphagia in Neurodegenerative Disease: Focus on Amyotrophic Lateral Sclerosis & Parkinson s Disease. Disclosures. What we ll discuss

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1 Dysphagia in Neurodegenerative Disease: Focus on Amyotrophic Lateral Sclerosis & Parkinson s Disease Debra M. Suiter, Ph.D., CCC-SLP, BCS-S Director, Voice & Swallow Clinic Associate Professor, Division of Communication Sciences & Disorders University of Kentucky Lexington, Kentucky Disclosures Financial: Salary from the University of Kentucky Royalties from Springer Publishing Non-financial Board member, American Board of Swallowing and Swallowing Disorders What we ll discuss Ways in which underlying neuropathology should influence our decision regarding assessment and treatment of individuals with neurodegenerative diseases Focus will be on patients with ALS and Parkinson s disease. 1

2 Amyotrophic Lateral Sclerosis (ALS) "A" means no or negative. "Myo" refers to muscle "Trophic" means nourishment So, Amyotrophic = "No muscle nourishment When a muscle has no nourishment, it "atrophies". "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that nourish the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region. ALS "Amyotrophy" refers to the atrophy of muscle fibers, which are denervated as their corresponding anterior horn cells degenerate, leading to weakness of affected muscles and visible fasciculations. "Lateral sclerosis" refers to hardening of the anterior and lateral corticospinal tracts as motor neurons in these areas degenerate and are replaced by gliosis Gliosis is a fibrous proliferation of glial cells in injured areas of the CNS ALS ALS involves both upper and lower motor neurons Presents as an idiopathic, progressive degeneration of anterior horn cells and their associated neurons resulting in progressive muscle weakness, atrophy, and fasciculations. 2

3 ALS Degeneration of UMNs Spasticity Hypertonia Hyperreflexia Pseudobulbar signs Degeneration of LMNs Atrophy Muscle weakness Hypotonia Flaccidity Fasciculation Diminished reflexes ALS There is degeneration of: The lateral corticospinal tracts Anterior horn cells Anterior roots and peripheral nerves Nuclei of cranial nerves V, VII, IX, and XII Corticobulbar tracts ALS Prevalence of ALS in the United States is estimated at 14,000-15,000 cases The incidence of ALS is two per 100,000 people. Approximately 5,600 people in the U.S. are diagnosed with ALS each year. 3

4 ALS Symptoms most commonly develop between the ages of years Men are more likely to develop ALS Caucasians are most likely to develop the disease ALS In the United States, 90 95% of ALS cases are sporadic. 5-10% are familial ALS Mutations in more than a dozen genes have been found to cause familial ALS 25-40% of familial cases are caused by a defect in C9ORF72 (Chromosome 9 open reading frame 72) The same mutation can be associated with fronto-temporal dementia 12-20% of familial cases result from mutations in the gene that provides instructions for production of the enzyme copper-zinc superoxide dismutase 1 (SOD1). FUS (Fused in Sarcoma) gene mutations ALS Military veterans, regardless of the branch of service, regardless of the era in which they served, and regardless of whether they served during a time of peace or a time of war, are at a greater risk of dying from ALS than if they had not served in the military (ALS Association). 4

5 ALS Causes Not completely understood. Researchers and physicians suspect viruses, neurotoxins, heavy metals, DNA defects (especially in familial ALS), immune system abnormalities, and enzyme abnormalities. ALS The clinical picture in all stages of ALS can vary and depends on the areas of the nervous system involved in each patient. Overall, the disease tends to be insidious and progressive with asymmetric weakness and atrophy. ALS: Bulbar Onset Bulbar Most rapidly progressive form Life expectancy is 2-5 years Involves muscles innervated by cranial nerves involved in speech and swallowing Presenting symptoms: Dysarthria Lingual fasciculations are a hallmark sign of LMN disease Dysphagia, usually to solids first 5

6 ALS: Limb Onset Progresses more slowly Involves upper and lower extremities controlled by spinal nerves Presenting symptoms: Unilateral or bilateral hand, arm, or leg weakness Some may notice muscle fasciculations or muscle cramping ALS Diagnosis Nerve conduction velocity (NCV) and electromyography (EMG) help diagnose nerve and muscle disorders. NCV is administered before EMG and measures the speed at which nerves transmit electrical signals. ALS Treatment There is no cure. Riluzole (Rilutek ) is one of the few drugs effective against ALS and may prevent progression and prolong life for a few months or so. Treatment focuses on relieving symptoms and maintaining an optimal quality of life. 6

7 ALS: Prognosis ALS is a terminal illness. 50% of patients die within 3 years of diagnosis 20% live 5 years 10% live 10 years Respiratory failure is the most common cause of death. ALS Functional Rating Scale (ALS-FRS) Used to rate functional changes over time: Speech Swallowing Lower Extremities Upper Extremities 7

8 ALS Severity Scale (Hillel et al., 1989) Swallowing subscale: 10 Points 9-10 Normal Eating Habits Normal-to-nominal abnormality 7-8 Early Eating Problems 8: Isolated choking episodes; regular diet 7: Prolonged meal times or smaller bite size 5-6 Dietary Consistency Changes 6: Soft diet 5: Liquefied diet 3-4 Needs Tube Feeding 4: Supplemental tube feedings 3: Tube feeding with occasional po nutrition 1-2 NPO 2: Secretions managed with suction or medication or both 1: Aspiration of secretions Onset is going to vary depending upon type of ALS. Approximately 85% of individuals with ALS will develop dysphagia. May be initial symptom in individuals with bulbar onset ALS. Dysphagia management may be affected by co-occurrence of mild cognitive impairment or fronto-temporal dementia. Cognitive and behavioral disturbances associated with frontotemporal lobar degeneration (FTLD) occur in up to 50% of patients with ALS. Up to 15% of patients with ALS meet diagnostic criteria for frontotemporal dementia, a variant of frontotemporal lobar degeneration marked by profound changes in social behavior and executive function. Cognitive and behavioral abnormalities are also found in approx. 50% of non-demented ALS patients, suggesting that pure ALS and FTD syndromes exist along a continuum of a singular neurodegenerative disease. 8

9 Speech-language pathologists often work as part of a multidisciplinary team that may include: Neurologists Nutrition Respiratory Therapists Pulmonologists Rehab Specialists: PT, OT, KT Social Workers Mental Health Oral Phase Dysphagia Lingual weakness is often more pronounced than jaw or lip weakness (Weikamp et al., 2012) Tongue strength has been found to be a prognostic indicator of survival in ALS. Chewing can be an issue. Many patients initials complaints are in regards to being able to chew hard, crunchy foods. Difficulty with bolus containment Oral transit can be difficult Pharyngeal phase Recent investigations have revealed that more than 50% of all ALS patients, regardless of the predominance of bulbar or spinal symptoms, exhibited aspiration because of pharyngeal dysfunction characterized by delayed bolus transit, decreased laryngeal elevation, and bolus residue after swallowing. Respiratory function is a critical concern in patients with ALS. Respiration is momentarily interrupted during swallowing and therefore individuals with respiratory insufficiency may experience fatigue during eating because of respiratory compromise and oropharygneal weakness. 9

10 Diagnosis Screening EAT-10 Yale Swallow Protocol Clinical Swallow Evaluation Instrumental Assessment of Swallowing EAT-10 (Belafsky et al., 2008) EAT-10 Plowman et al (2015) An EAT-10 value cut off value of 8 or above separated aspirators from nonaspirators Sensitivity of 85.7% Specificity of 71.9% Patients who scored greater than 3 were 2 times more likely to be unsafe swallowers (penetration or aspiration) 10

11 Initial complaints may be of occasional choking with liquids or solids. Individuals may complain of difficulty chewing hard, crunchy foods. Our role: Counseling regarding safer food choices. Instrumental swallow assessment if indicated. As the disease progresses: Continued recommendations regarding diet modifications Energy conservation strategies Depending upon individual s readiness, may discuss need to consider feeding tube placement. Timing of tube placement is important Weight loss of 10% or more from premorbid weight (Anderson et al., 2005) Vital capacity should be >50% of predicted value (Miller et al., 2009) Encourage continued p.o. intake PEG should be considered for prolonging survival in patients with ALS (Miller et al.). There are insufficient data to support or refute PEG for improving quality of life in patients with ALS. 11

12 Individuals may complain of difficulty taking liquids from a cup Many choose to use a straw instead. One-way valve straws May recommend metered dose type cup to control bolus flow and size. Sialorrhea may be a complaint Electron beam radiation treatment (Kasarskis et al., 2011) Administered unilaterally to the parotid gland Other available treatments Anticholinergics Botox Recommend regular follow-up with individuals Our role is to continue to make recommendations for diet modifications May suggest adding liquefying foods or adding gravies/sauces to foods Suggest altering diet consistency Suggest smaller meals distributed throughout the day. 12

13 Exercise-based programs Very little empirical evidence that strength training improves or maintains function in the limbs Some evidence that respiratory training may help maintain respiratory function To date, there is no empirical evidence to support exercise-based program for treatment of dysphagia in individuals with ALS. Expiratory Muscle Strength Training (EMST) EMST Protocol 1. Program is 5-weeks long 1 st week the device is set at 75% max. expiratory strength Weeks 2-5: Device is set at approx. 90% max. expiratory strength 2. 5 sets of 5 reps 5 days a week 13

14 EMST Increases Expiratory muscle strength Submental muscle strength May enhance ability to generate and maintain expiratory driving force for coughing, speaking, and swallowing. Reduced occurrence of respiratory infections Improved speech intelligibility, vocal quality EMST One study (Plowman et al., 2016) EMST resulted in Improved maximum expiratory pressure Maximum hyoid displacement during swallowing No changes in any other swallowing measures or penetration-aspiration scale scores. Electrical Stimulation NMES uses surface electrodes to deliver electrical stimulation to muscles causing muscle contraction by depolarization of nerves that are responsible for motor innervation to a particular muscle or to particular muscle fibers. 14

15 Electrical Stimulation Considerations with ALS Stimulation is delivered to motor neurons to trigger muscle contractions In denervated muscles, there is nothing to stimulate Thus, NMES would be of no benefit Dysarthria in ALS 93% of individuals with ALS will develop speech impairment. Individuals with ALS rated potential loss of speech function as one of the worst symptoms of the disease (Hecht et al., 2002) Speech presentation depends upon predominant neuropathology. UMN predominant = Spastic dysarthria LMN predominant = Flaccid dysarthria Later in progression of the disease, individuals present with mixed flaccid-spastic dysarthria Dysarthria in ALS In patients with bulbar onset disease, dysarthria was 8 times more common that dysphagia as an initial symptom (Traynor et al., 2000) 15

16 Dysarthria in ALS In patients with bulbar-onset ALS, median time from disease onset to complete loss of speech is 18 months (Turner et al., 2010) Speech symptom onset depends upon disease onset type Ranges from 33 months prior to actual diagnosis (bulbar onset) to 60 months after diagnosis (limb onset) (Yorkston et al., 1993) 80-95% of individuals with ALS will be unable to meet their communication needs via natural speech at some point during the progression of the disease (Beukelman et al., 2011) Dysarthria in ALS Reduced speech intelligibility in individuals with ALS is more closely related to the slowing of articulatory movements than decreased strength of the articulators (DePaul & Brooks, 1993; Kuruvilla et al., 2012; Langmore & Lehman, 1994) Dysarthria in ALS Treatment focuses on: Conserving energy Exaggerating articulation Oral motor exercises are not indicated Speech is a submaximal task Rate, not strength, is the issue in ALS Minimize background noise Augmentative alternative communication 16

17 Dysarthria in ALS Case study in which modified Lee Silverman Voice Treatment (LSVT)was used (Watts & Vanryckeghem, 2001) 4 x week x 2 weeks followed by weekly 1.5 hour therapy consisting of traditional voice, articulation, and isometric oral motor strengthening exercises LSVT resulted in reduction in voice quality Voice and articulation therapy were deemed ineffective. Dysarthria in ALS AAC Voice Banking Dysarthria in ALS AAC Need to consider Accessibility Direct pointing Mouse Switch Eye gaze Mount Rolling Wheelchair 17

18 ALS Case Examples Case 1 77 year old female Developed jaw pain and limited jaw ROM following chiropractic manipulation in May 2016 Fell in May and hit her face Developed progressive jaw weakness and dysarthria Developed dysphagia that she related to her inability to chew Case 1 Hospitalized for failure to thrive PEG placed MRI done; negative Referred to Orofacial Pain Clinic due to suspected TMJ dysfunction Orofacial Pain Clinic referred to us for a MBSS 18

19 Case 2 73 year old male Referred to our clinic due to dysphonia, dysarthria, dysphagia Sudden onset of dysarthria 2 months prior to voice eval and 4 months prior to MBS Dysphagia began approx. 1.5 months after dysarthria onset Now with sialorrhea History of Bell s Palsy 6 years prior to our eval; patient stated symptoms had resolved Prior workup at outside facilities included 3 MRIs, all negative Case 3 49 year old female H/o lingual tonsillectomy in October 2015 Rapidly progressive dysarthria following surgery Developed dysphagia around 1 year after surgery Lost 40 lbs in a 3 month period Worked up at several outside facilities Differential diagnosis Late effects of surgery-? Cranial nerve damage? ALS Other ALS Conclusions ALS is a neurodegenerative disease that results in degeneration of upper and lower motor neurons. At this time, there is not substantial evidence to support the role of active exercise for rehabilitation or maintenance of speech or swallow function. Our role is generally one of assisting the individual with compensating for dysphagia and dysarthria. 19

20 Parkinson s Disease One million people in the U.S. have Parkinson s Disease Approximately 60,000 new cases of Parkinson s disease are diagnosed in the U.S. each year. The incidence of Parkinson s disease increases with age, but 4% of cases occur before the age of 50. Statistics from Parkinson s Disease Foundation Parkinson s Disease Results from damage to the substantia nigra, which produces dopamine. Reduction in dopamine results in an imbalance in neurotransmitters Too much acetylcholine; too little dopamine Characteristics include: Rigidity -Tremor Bradykinesia -Disturbed Postural Reflexes Parkinson s Disease Treatment Medications Dopamine replacement Levodopa is the most prescribed Converts in the brain to dopamine Carbidopa (Sinemet) Prevents levodopa breakdown so more can get to the brain Catechol-O-methyltransferase (COMT) Inhibitors Stalevo (Levodopa/carbidopa and Comtan) Prevents breakdown of levodopa outside of the brain Prolong duration of action of levodopa Dopamine Agonists Mimic the effect of dopamine in the brain Examples include Requip or Mirapex 20

21 Parkinson s Disease Treatment Deep Brain Stimulation Electrical stimulation is delivered to target areas (usually the subthalamic nucleus, globus pallidus, or thalamus) Stimulation blocks abnormal nerve signals that cause tremor, dyskinesia, and other PD symptoms Dysphagia in Parkinson s Disease Difficulty can occur in any phase of swallowing: Oral Pharyngeal Esophageal Dysphagia in Parkinson s Disease Oral Phase Difficulties with this phase usually occur first. May include: Difficulty chewing Tongue pumping behavior Non-propulsive back and forth motion of the tongue Anterior spillage of material Drooling Due to reduction in frequency of swallowing Up to 55% of patients with Parkinson s report xerostomia. Tjaden,

22 Dysphagia in Parkinson s Disease Pharyngeal Phase: Delayed initiation of the pharyngeal swallow Decreased tongue base retraction Decreased pharyngeal contraction Decreased hyolaryngeal excursion Decreased airway protection during the swallow Dysphagia in Parkinson s Disease Esophageal Phase: Decreased UES opening Decreased esophageal motility Patients complain of feeling as if food gets stuck Sung et al., 2010 Dysphagia in Parkinson s Disease Co-occurrence of dementia can affect swallow safety Impulsivity Lack of awareness of swallowing difficulty Patients tend to underreport their symptoms 22

23 Dysphagia in Parkinson s Disease Only 3-4% of people with PD actually receive treatment from an SLP (Trail et al., 2005) Animal studies have suggested that use of targeted training may reverse or slow disease progression. Exercise has been shown to improve motor performance, increase daily activity, and decrease mortality. Regular exercise may delay the appearance of parkinsonian features in people diagnosed with PD. There are very few studies in which targeted treatment for dysphagia in PD have been studied. Dysphagia in Parkinson s Disease Dysphagia Treatment: Lee Silverman Voice Treatment Diet Modification Rehabilitative Exercises EMST Lingual strengthening Compensatory Strategies Dysphagia in Parkinson s Disease The primary purpose of the expiratory muscle strength training program is to promote strength in the expiratory muscles. The training protocol occurs five times per day, 5 days a week, and consists of ~15-20 minutes per day of training by the user at home. The device threshold is changed weekly by a clinician to maintain a threshold load of 75% of an individual's maximum expiratory pressure. The threshold setting of the device is always based on the individual's recorded maximum expiratory pressure generated into a digital pressure gauge. 23

24 Dysphagia in Parkinson s Disease More about treatment Muller et al examined the effect of dopaminergic treatment (Levodopa) 171 patients with PD participated-140 received dopaminergic tx and 31 did not. Those who received dopaminergic tx had a significant decrease in dysphagia severity at 12-month follow-up Other studies have found no benefit of dopaminergic tx on dysphagia Dysphagia in Parkinson s Disease Sialorrhea Treatment Dopaminergic drugs may have some benefit Botox injections to the salivary glands appears to be most effective. Srivanitchapoom et al., 2014 Dysphagia in Parkinson s Disease Deep Brain Stimulation No empirical evidence to suggest stimulating the subthalamic nucleus is preferable to stimulating the globus pallidus or vice versa in terms of swallow function. 24

25 Dysphagia in Parkinson s Disease Subthalamic nucleus Deep Brain Stimulation Some evidence that it results in improvements in swallow function Improvement in oral preparation of thin liquids (Silbergleit et al., 2012) Improvement in patient perceptions of swallow function (Silbergleit et al., 2012) Improvement in pharyngeal composite scores (velar elevation, pharyngeal wall displacement, penetration/aspiration, residue) (Ciucci et al., 2007) Dysarthria in Parkinson s Disease Patients present with hypokinetic dysarthria Monopitch Short rushes of speech Imprecise consonant articulation Monoloudness Decreased loudness Impaired feedback loop Dysarthria in Parkinson s Disease Lee Silverman Voice Treatment Developed by Lori Ramig & Cynthia Fox 4 week program, 4 days/week x 4 weeks Homework and carryover activities Improves Speech intelligibility Prosody Facial expression 25

26 Dysarthria in Parkinson s Disease SpeechVive Developed by Jessica Huber Biofeedback device Plays noise when individual speaks Triggers reflexive response to get louder. Parkison s Disease Conclusions Some evidence that treatment for swallowing and dysarthria works. Co-occurring dementia can make this challenging It is still a degenerative disease, and treatment may need to be revisited as the disease progresses. Conclusions Treatment of dysphagia in patients with neurodegenerative disease requires a unique approach and depends upon the neurological underpinnings of the disease. Clinicians must have a thorough understanding of the disease causing the dysphagia in order to formulate an appropriate treatment plan. 26