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Progressive Degenerative Communication
Disorders of Older Adults: Incidence,
Pathology and Treatment
Amyotrophic Lateral Sclerosis
And
Huntington Disease
Robert M. Miller, Ph.D.
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)
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)
Levels of Degenerative Disease
Potentially reversible
conditions with dementia
Structural (e.g., Normal
Pressure Hydrocephalus)
Nutritional, toxic,
hormonal, hypoxic,
metabolic, infection,
alcohol, drug related
Levels of Degenerative Disease
Cerebellar degeneration
Multisystem atrophy
Olivopontocerebellar degeneration
Friedreich’s ataxia
Other spinocerebellar ataxias)
Levels of Degenerative Disease
Motor Neuron Diseases
Amyotrophic Lateral
Sclerosis (ALS)
Primary Lateral
Sclerosis (PLS)
Spinal Muscular
Atrophy (SMA)
Progressive
Bulbar Palsy (PBP)
ALS, Lou Gehrig’s Disease, MND
90-95% Sporadic
Ave. age onset 56
5-10% Familial
Ave. age onset 46
Mutations of gene
SOD1 account for
20% FALS cases
SOD1 mutations in
3% sporadic cases
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)
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
ALS: Upper and Lower Motor
Neuron Pathology
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
Spinal Musculature Atrophy (SMA)
Hereditary
degeneration of
spinal motor
neurons
9 Progressive
atrophy of skeletal
and limb muscles
9 Loss of reflexes
Anterior horn cells of spinal cord
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
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
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
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
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
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
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
ALS Database (UW Neuro Speech and
Swallowing Clinic, 1985-2000)
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
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
ALS SEVERITY SCALE: Speech
NORMAL SPEECH HABITS
10 Normal speech
9
Nominal speech abnormalities
DETECTABLE SPEECH DISTURBANCE
8
7
Perceived speech changes
Obvious speech abnormalities
6
5
Repeats message on occasion
Frequent repeating required
4
3
Speech plus non-vocal communication
Limits speech to one word responses
INTELLIGIBLE WITH REPEATING
SPEECH COMBINED WITH NON-VOCAL
LOSS OF USEFUL SPEECH
2
1
X
Vocalizes for emotional expression
Non-vocal
Tracheostomy
ALS SEVERITY SCALE: Swallowing
NORMAL EATING HABITS
10 Normal swallowing
9
Nominal abnormalities
EARLY EATING PROBLEMS
8
7
Minor swallowing problems
Prolonged time / smaller bites
6
5
Soft diet
Liquefied diet
4
3
Needs supplemental tube feedings
Tube feedings with occasional p.o.
2
1
Secretions managed with suction and/or medications
Aspiration of secretions
DIETARY CONSISTENCY CHANGES
NEEDS TUBE FEEDING
NPO
ALS SEVERITY SCALE: LOWER
EXTREMITIES (WALKING)
NORMAL
10 Normal ambulation
9
Fatigue suspected
EARLY AMBULATION PROBLEMS
8
7
Difficulty with uneven terrain
Observed changes in gait
6
5
Walks with mechanical devices
Walks with mechanical devices and attendant
4
3
Able to support weight
Purposeful leg movements
2
1
Minimal movements
Paralysis
WALKS WITH ASSISTANCE
FUNCTIONAL MOVEMENT ONLY
NO PURPOSEFUL LEG MOVEMENTS
ALS SEVERITY SCALE: UPPER
EXTREMITIES (DRESSING & HYGIENE)
NORMAL FUNCTION
10 Normal function
9 Suspected fatigue
INDEPENDENT AND COMPLETE SELF-CARE
8
7
Slow self-care performance
Effortful self-care performance
6
5
Mostly independent
Partially independent
4
3
Attendant assists patient
Patient assists attendant
2
1
Minimal movements
Paralysis
INTERMITTENT ASSISTANCE
NEEDS ATTENDANT FOR SELF-CARE
TOTAL DEPENDENCE
S w a l lo w i n g
S u b sc a le
Score
N orm al
F u n c t io n
What is the relationship between swallowing
and speech scores?
71%
10
E a r ly
P r o b le m s
21%
8
6
D ie t a r y
C hange
8%
4
A lt e r n a t i v e
T e c h n iq u e s
2
L o ss of
F u n c tio n
0
0
2
4
6
8
10
S p e ech Sco re
For 200 consecutive visits, 71% of swallowing and
speech scores are within 1 point of one another.
Is there a typical pattern of decline in
speech and swallowing?
10
ALSS
SCORE
SPEECH
8
SWALLOW
6
4
2
0
1
4
7
10
13
16
19
22
25
28
Months post-diagnosis
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).
Do first symptoms continue to
be most severely affected?
100
80
60
40
20
0
Total
Bulbar
Spinal
Mixed
Yes, for over 80% of patients, first symptoms,
either bulbar or spinal, continue to be most
severely affected.
Do changes in swallow, LE and UE
function occur at similar rates?
10
8
Linear (LE)
6
Linear (UE)
4
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).
How does respiratory decline relate to
speech and swallowing fx?
5
4
Vital
Capacity
in Liters
3
2
1
0
10
9
8
7
6
5
4
3
2
Swallowing Scale Score
Generally, as vital capacity diminished, speech and
swallowing functions declined.
Do respiratory symptoms develop and
progress in a similar fashion for all patients?
4
3.5
VITAL
CAPACITY
3
2.5
BULBAR
2
SPINAL
1.5
MIXED
1
0.5
0
9
8
7
6
5
4
3
2
SWALLOW SCALE SCORE
Patients with all forms of ALS showed similar
patterns of decline in vital capacity.
How rapidly does respiratory fx
decline?
2.5
2
Vital
capacity 1.5
1
0.5
0
0
Time (months)
4.2
Over 4.2 months, average of 7.2% per month
decline in VC for 34 patients.
Do respiratory changes vary by type of
disease and gender?
Normal
Range
4
Mean
VC
(liters)
3
Women
M
2
S
B
Men
S
M
Women
B
Marginal
VC
1
0
Men
5
10
15
20
25
30
Months post-dx
Men with initial bulbar symptoms showed the most
rapid decline in VC.
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
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
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
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
Can we predict how speech and
swallowing will decline over time?
Normal
habits
10
Early
problems
6
.
Diet
change
4
Needs
tube
2
NPO
S
M
B
8
0
Women
Women B
Men
M
5
Women S
S
Men B
Men M
B
Liquefied Diet
0
Women M
10
15
Months post dx
20
25
Men S
30
Bulbar women and men with mixed symptoms, declined
faster in speech and swallowing functions.
How do ALSSS scores and VC interact to
help plan timely interventions?
A
L
S
S
S
c
o
r
e
PEG
8
SWALLOW
SPEECH
7
6
3
5
2
4
Vital
1 capacity
0 in liters
3
2
14
15
16
17
18
19
20
Months post-diagnosis
21
22
What other factors influence
decisions for intervention?
DIET CHANGE
190
W
E
I
G
H
T
180
5
VC
170
160
Vital
4 Capacity in
Liters
3
Wt.
150
6
2
140
0
15
MONTHS POST-DIAGNOSIS
30
1
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)
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)
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
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
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
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
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)
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
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
thalamus
What goes wrong in HD?
Must have a
balance of
excitatory
and
inhibitory
impulses
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
When do symptoms appear?
Generally symptoms show up between 3rd
and 5th 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 15-20 years
Juvenile HD has onset before age 20
Course is 8-10 years
What are the manifestations of HD?
1. Involuntary movements (choreatic)
2. Cognitive changes
3. Personality changes
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
What specific cognitive changes
are associated with HD?
Forgetfulness
Difficulty with attention and
concentration
Difficulty with new learning
Problems with memory retrieval
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.
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
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
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
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
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
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
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