Progressive Degenerative Communication Disorders of Older Adults: Incidence, Pathology and Treatment

Transcription

1 Progressive Degenerative Communication Disorders of Older Adults: Incidence, Pathology and Treatment Amyotrophic Lateral Sclerosis And Huntington Disease Robert M. Miller, Ph.D.

2 Levels of Degenerative Disease Dementia as the major presenting symptom Alzheimer s Vascular (Multi-infarct) Lewy body dementia Creutzfeldt-Jakob Disease (Prion diseases or spongiform encephalopathies) Pick s (Frontal-temporal Dementia)

3 Levels of Degenerative Disease Motor control symptoms with possible/probable dementia Huntington Disease*** Parkinson Disease and PD-plus syndromes Other degenerative diseases (e.g., Wilson s Disease, MS)

4 Levels of Degenerative Disease Potentially reversible conditions with dementia Structural (e.g., Normal Pressure Hydrocephalus) Nutritional, toxic, hormonal, hypoxic, metabolic, infection, alcohol, drug related

5 Levels of Degenerative Disease Cerebellar degeneration Multisystem atrophy Olivopontocerebellar degeneration Friedreich s ataxia Other spinocerebellar ataxias)

6 Levels of Degenerative Disease Motor Neuron Diseases Amyotrophic Lateral Sclerosis (ALS) Primary Lateral Sclerosis (PLS) Spinal Muscular Atrophy (SMA) Progressive Bulbar Palsy (PBP)

7 ALS, Lou Gehrig s Disease, MND 90-95% Sporadic Ave. age onset % Familial Ave. age onset 46 Mutations of gene SOD1 account for 20% FALS cases SOD1 mutations in 3% sporadic cases

8 What are the Motor Neuron Diseases? Amyotrophic Lateral Sclerosis (ALS) Both UMN and LMN degeneration Progressive Bulbar Palsy (PBP) Degeneration of bulbar motor nuclei (LMN) Spinal muscular atrophy (SMA) Degeneration of spinal anterior horn cells, roots & nerves (LMN) Primary Lateral Sclerosis (PLS) Degeneration of motor cells in cortex & corticobulbar / corticospinal tracts (UMN)

9 What pathologic changes occur in ALS? 1. Degeneration of motor neurons in anterior horns SC and motor nuclei of cranial nerves V, VII, X, XI, XII Lower motor neurons / final common pathway Leads to atrophy and fasciculations 2. Axonal loss in corticobulbar and corticospinal tracts Upper motor neurons at level of internal capsule and cerebral peduncles in the midbrain Leads to spasticity, hyperactive reflexes

10 ALS: Upper and Lower Motor Neuron Pathology

11 Progressive Bulbar Palsy (PBP) Pathology in Bulbar motor nuclei Flaccidity and atrophy of bulbar muscles Flaccid dysarthria and dysphagia Motor cortex Brainstem or Bulb Bulbar musculature

12 Spinal Musculature Atrophy (SMA) Hereditary degeneration of spinal motor neurons Progressive atrophy of skeletal and limb muscles Loss of reflexes Anterior horn cells of spinal cord

13 Primary Lateral Sclerosis Degeneration of Upper Motor Neurons (corticospinal and corticobulbar tracts) Spasticity in skeletal, limb and bulbar muscles Hyperactive reflexes Pathologic reflexes Spastic dysarthria and dysphagia

14 How is ALS diagnosed? 1. Evidence of UMN degeneration Clinical signs (hypertonicity, pathologic reflexes) 2. Evidence of LMN degeneration EMG and clinical signs (weakness, atrophy, fasciculations) 3. Evidence of spread of symptoms or signs Determined by history or examination, 4. No evidence on EMG or neuroimaging of other disease processes that explain the signs of UMN and LMN degeneration

15 Who gets ALS and how common is it? Average age of onset is 55 years 56 for sporadic; 46 for familial Men get ALS more than women (1.3 to 1 ratio) After age 60, ratio of men to women nearly 1 to 1 80% of cases begin between ages of 40 to 70 Incidence is 2-5 per 100,000 Prevalence is 8 per 100,000 Occurs in all races and all around the world at near equal rates Exception on Guam where an ALS-parkinsonismdementia complex has been related to cycad use and metal intoxication

16 What do we know about survival? 80% die within 5 years of dx 10% live longer than 10 years 50% die within 18 months of dx Younger than 55 survive longer Over 80 survive 1.7 years less than under 80 Negative predictive factors are: Rapid decline in vital capacity Rapid weight loss related to malnutrition and muscle loss Positive quality of life depends on: Communication Swallowing and saliva management Mobility and independence

17 Do patients with ALS have dementia? 5% have fronto-temporal dementia (FTD) Altered personality, social conduct, attention, abstraction, planning, problem-solving 30-50% have subtle problems with executive functions not meeting criteria for FTD Cognitive impairments may be masked by socially positive traits of empathy and optimism

18 Summary of MND and levels of degeneration UMNs damaged in ALS and PLS LMNs controlling speech and swallowing damaged in ALS and PBP Corticospinal tract shows gliosis in ALS and PLS LMNs (anterior horn cells) controlling limb muscles Peripheral axons to limb and respiratory muscles

19 How might ALS present clinically? May have only spinal symptoms Gait impairment, weakness and atrophy in limbs Incontinence and sensory loss are atypical May have only bulbar symptoms Dysarthria, dysphagia and emotional lability Ocular movements generally spared May have mixed spinal and bulbar symptoms Respiration is involved in all presentations

20 ALS Database (UW Neuro Speech and Swallowing Clinic, ) 319 patients 152 males (mean age 55.5, range 17-81) 167 females (mean age 63.5, range 41-83) 905 visits Months post dx (average) males = 17.0 females = 7.36

21 ALS Database WEIGHT ALSSS (speech, swallowing, LE, UE) RATING OF COGNITION AND LABILITY PERCENT PREDICTED VITAL CAPACITY PHONATON TIME QUANTIFIED ORAL-FACIAL STRUCTURAL & FUNCTIONAL EXAM OTHER DEMOGRAPHIC, DISEASE RELATED & FUNCTIONAL DATA

22 ALS SEVERITY SCALE: Speech NORMAL SPEECH HABITS 10 Normal speech 9 Nominal speech abnormalities DETECTABLE SPEECH DISTURBANCE 8 Perceived speech changes 7 Obvious speech abnormalities INTELLIGIBLE WITH REPEATING 6 Repeats message on occasion 5 Frequent repeating required SPEECH COMBINED WITH NON-VOCAL 4 Speech plus non-vocal communication 3 Limits speech to one word responses LOSS OF USEFUL SPEECH 2 Vocalizes for emotional expression 1 Non-vocal X Tracheostomy

23 ALS SEVERITY SCALE: Swallowing NORMAL EATING HABITS 10 Normal swallowing 9 Nominal abnormalities EARLY EATING PROBLEMS 8 Minor swallowing problems 7 Prolonged time / smaller bites DIETARY CONSISTENCY CHANGES 6 Soft diet 5 Liquefied diet NEEDS TUBE FEEDING 4 Needs supplemental tube feedings 3 Tube feedings with occasional p.o. NPO 2 Secretions managed with suction and/or medications 1 Aspiration of secretions

24 ALS SEVERITY SCALE: LOWER EXTREMITIES (WALKING) NORMAL 10 Normal ambulation 9 Fatigue suspected EARLY AMBULATION PROBLEMS 8 Difficulty with uneven terrain 7 Observed changes in gait WALKS WITH ASSISTANCE 6 Walks with mechanical devices 5 Walks with mechanical devices and attendant FUNCTIONAL MOVEMENT ONLY 4 Able to support weight 3 Purposeful leg movements NO PURPOSEFUL LEG MOVEMENTS 2 Minimal movements 1 Paralysis

25 ALS SEVERITY SCALE: UPPER EXTREMITIES (DRESSING & HYGIENE) NORMAL FUNCTION 10 Normal function 9 Suspected fatigue INDEPENDENT AND COMPLETE SELF-CARE 8 Slow self-care performance 7 Effortful self-care performance INTERMITTENT ASSISTANCE 6 Mostly independent 5 Partially independent NEEDS ATTENDANT FOR SELF-CARE 4 Attendant assists patient 3 Patient assists attendant TOTAL DEPENDENCE 2 Minimal movements 1 Paralysis

26 Swallowing Subscale Score Norm al Function E arly Problem s 10 8 What is the relationship between swallowing and speech scores? 21% 71% D ietary Change Alternative Techniques L oss of Function % Speech Score For 200 consecutive visits, 71% of swallowing and speech scores are within 1 point of one another.

27 Is there a typical pattern of decline in speech and swallowing? ALSS SCORE Months post-diagnosis SPEECH SWALLOW Typically, speech sx precede swallowing. When speech scores fall to reflect intelligibility problems (6), swallowing scores often drop rapidly and suggest oral feeding alone may not be adequate (4).

28 Do first symptoms continue to be most severely affected? Total Bulbar Spinal Mixed Yes, for over 80% of patients, first symptoms, either bulbar or spinal, continue to be most severely affected.

29 Do changes in swallow, LE and UE function occur at similar rates? Linear (LE) Linear (UE) Linear (Swallow) 2 0 First visit Last visit Once symptoms occur, consistent decline in fx in all scales for all patients over a 3 month period (N=50).

30 How does respiratory decline relate to speech and swallowing fx? 5 4 Vital Capacity in Liters Swallowing Scale Score Generally, as vital capacity diminished, speech and swallowing functions declined.

31 Do respiratory symptoms develop and progress in a similar fashion for all patients? VITAL CAPACITY BULBAR SPINAL MIXED SWALLOW SCALE SCORE Patients with all forms of ALS showed similar patterns of decline in vital capacity.

32 How rapidly does respiratory fx decline? 2.5 Vital capacity Time (months) Over 4.2 months, average of 7.2% per month decline in VC for 34 patients.

33 Mean VC (liters) Do respiratory changes vary by type of disease and gender? M Women B S B M Men Normal Range Men Women Marginal VC Months post-dx Men with initial bulbar symptoms showed the most rapid decline in VC. S

34 Vital Capacity 96% ALS deaths are cardiopulmonary Last ALSSS scores recorded prior to death did not predict respiratory failure Therefore, respiratory failure may occur at any point in disease progression Respiratory failure may occur in isolation Wright Respirometer Mark 14 Model

35 What is Bi-PAP and when is it used to manage respiratory symptoms in ALS? Bi-level Positive Air Pressure Discuss once VC is less than 50% predicted BiPAP delivers preset air pressure Ventilators deliver preset air volume C-PAP may make it difficult to exhale against higher continuous pressure

36 How is Bi-PAP used to manage respiratory symptoms in ALS? To support pts with marginal VC during PEG Nocturnal breathing support to provide more daytime energy Experience w/ non-invasive ventilation may assist in decisions regarding invasive ventilation Studies indicate increased survival by several months

37 What are the clinical signs of respiratory decline? Frequent association with UE weakness Early stages often asymptomatic Occurs first in REM sleep Accessory muscles of respiration become flaccid Cough ineffective Warning signs of pulmonary insufficiency: Insomnia with daytime drowsiness Dyspnea w/ mild exertion or supine dyspnea Morning headache Reduced appetite; weight loss Depression; anxiety Dizziness Marked fatigue

38 Can we predict how speech and swallowing will decline over time? Normal habits Early problems Diet. change Needs tube NPO S M B Women Liquefied Diet M Men S B Women B Women M Women S Men B Men M Men S Months post dx Bulbar women and men with mixed symptoms, declined faster in speech and swallowing functions.

39 How do ALSSS scores and VC interact to help plan timely interventions? A L S S S c o r e PEG SWALLOW SPEECH Vital capacity in liters Months post-diagnosis

40 What other factors influence decisions for intervention? 190 DIET CHANGE 6 W E I G H T VC Wt Vital Capacity in Liters MONTHS POST-DIAGNOSIS 1

41 What recommendations for saliva management have been helpful to patients? Thick, tenacious secretions Increase fluid intake Chart intake Eliminate caffeine SSKI (potassium iodide) Guaifenesin Papain Thin saliva; drooling Amitriptyline (Elavil) Glycopyrrolate (Robinul) Chart fluid intake (as precaution to dehydration)

42 What recommendations for swallowing are reported by patients to be most helpful? PRELIMINARY DATA!!!!! Categories by rank order: 1. Postural adjustments 2. Diet texture changes 3. Food/liquid temperature stimulation 4. Thickening liquids 5. Anti-reflux measures (behavioral)

43 How might one manage speech symptoms as the disease progresses? Dependent on functional levels in other domains (swallowing, UE, LE) Stage 1 (10 or 9) Normal speech processes good news Patient education regarding technology Stage 2 (8 or 7) Detectable speech disturbance Environmental education as in aural rehab Minimize environmental adversity Establish context of message Maximize hearing of partners Strategies for groups

44 Managing dysarthria in ALS Stage 3 (6 or 5) Intelligible with repeating Maintain slow speaking rate with articulation exaggeration and precision Conserve energy No evidence that exercise helps, some that it hurts Amplifiers considered Consider palatal lift Poor VP fx with relatively preserved tongue and lip fx Ability to manage saliva Adequate dentition to support prosthesis Relatively slow progression of sx

45 Managing dysarthria in ALS Stage 4 (4 or 3) Speech combined with non-vocal Alphabet supplementation Alerting systems Telephone communication Portable writing systems (from paper and pencil to electronic) AAC Stage 5 (2 or 1) Loss of useful speech Yes/No and eye-gaze systems

46 How do we develop recommendations for the management of ALS patients? Use a staging methodology It s a moving target of symptoms, but the movement is somewhat predictable Maintain a database Understand patterns of progression Document outcome following interventions Decisions directed by patient preferences

47 Are there any effective drug treatments for ALS? Riluzole is only currently FDA-approved drug for the treatment of ALS. Mechanism is thought to be glutamate inhibition Clinical trials have shown marginal slowing of disease progression in some but not all Xaliproden slowed deterioration in FVC by 43% during Phase II safety and efficacy trials (France)

48 Final Thoughts on ALS Intervention Individualize your intervention YOUR PATIENT IS NOT A STATISTICAL AVERAGE Recognize that UMN and LMN symptoms (spasticity and flaccidity) develop at variable rates Muscular Dystrophy Association and local support groups

49 Huntington Disease Autosomal dominant 50/50 chance of inheritance for each child of HD parent Basal ganglia degeneration Loss of GABA inhibition from striatum caudate & putamen Lack communication between cortex and BG Most common presentation is choreatic Akinetic-rigid form, or "Westphal variant" of HD

50 thalamus

51 What goes wrong in HD? Must have a balance of excitatory and inhibitory impulses

52 Who gets HD and how common is it? Affects males and females equally In all ethnic groups and geographic areas Reported in 4 to 10 individuals per 100,000 Inherited, but may occur sporadically in <3% of cases (possible gene mutation) Gene known as IT15, located on chromosome 4 Encodes production of huntingtin protein Neurons of striatum degenerate and impair production of GABA the major inhibitory NT

53 When do symptoms appear? Generally symptoms show up between 3 rd and 5 th decade of life (35-50 years old) Genes paternally inherited are more unstable; thus symptoms develop earlier than in their father s Course is generally years Juvenile HD has onset before age 20 Course is 8-10 years

54 What are the manifestations of HD? 1. Involuntary movements (choreatic) 2. Cognitive changes 3. Personality changes

55 What are the motor disturbances that occur in HD? Because of involuntary movements Clumsy fine motor movements Postural instability Inability to sustain voluntary movements Impaired control of voluntary eye movements Poor control of oral and respiratory muscles Dysarthria Dysphagia

56 What specific cognitive changes are associated with HD? Forgetfulness Difficulty with attention and concentration Difficulty with new learning Problems with memory retrieval

57 What are the typical personality changes that occur in HD? Irritability Suspiciousness Impulsive behaviors Anxiety Depression Mania Obsessive and compulsive behaviors Social withdrawal Note: It is imperative to NOT misinterpret movement and cognitive problems as personality changes.

58 What principles have been useful in managing patients with HD? Begin in early stages of disease Focus on respiratory control Be cognizant of cognitive changes Target maladaptive behaviors

59 What are specific techniques for speech and cognitive management in HD? Mild Dysarthria and Cognitive Change (speech change obvious, flow disrupted by choreatic movement, intelligibility NOT reduced) Relaxed breathing exercise with reduced phonatory stenosis Maintenance of appropriate rate Establish habits of using memory and organizational aids

60 Other ideas for management of HD symptoms: Moderate Dysarthria and Cognitive Change (choreatic movement interferes with intelligibility, cognitive changes affect functions and independence) Communication partner training Continue emphasis on respiratory control for speech Scripting standard conversations Capitalize on preserved abilities and avoid underestimating comprehension

61 Other ideas for management of HD symptoms: Severe Dysarthria and Dementia (natural speech no longer understandable, cognitive changes preclude independence) Natural speech with supportive partner Alphabet boards (oversized) Making choices Calendars and memory aids Establish reliable YES/NO system

62 What can be done to manage swallowing in HD? Postural and position change Chin stabilized and down Foam wedge supporting mid-thoracic to lumbar spine Ankle weights Seat belts Lap trays below waist level Assistive devices Nonskid mats Scoop dishes Built-up utensils Double handled cups Weighted cups & utensils Wrist weights

63 Other ideas to manage swallowing in HD? Controlled rate and bite size Supervision with verbal cues Check mouth for residual food Utilize finger foods Dietary changes Calorie dense foods Soft, cohesive boluses Thermal-gustatory impregnated purees Alternative feeding Provides means for supplemental feedings May ease burden of care

64 SUMMARY: MANAGEMENT OF SPEECH AND SWALLOWING IN PROGRESSIVE DISEASE Establish baseline measures Maintain a database when possible Follow pts serially Assess cognitive functions: utilize assets AND control for liabilities Understand nature of disease and likely course Document outcome from interventions Anticipate problems and provide recommendations in a timely manner (avoid decisions during crisis) Decisions are directed by patient preferences