Neurodegenerative Diseases Quiz

Neurodegenerative Conditions: Introduction and Parkinson's Disease

• A series of mini lectures will cover neurodegenerative disorders, communication/swallowing difficulties related to them, and implications for speech-language therapy (SLT) management.
• Key areas of focus will include listing neurodegenerative disorders, identifying common communication/swallowing problems, and discussing the SLT management implications.

What is Neurodegenerative?

• Neurodegenerative diseases are neurological in origin.
• They affect the central nervous system (CNS), peripheral nervous system (PNS), or both.
• They are progressive in nature.

Neurodegenerative Disease Impacts

• Neurodegenerative disorders can impact speech (dysarthria, AOS), language (aphasia), cognitive abilities, swallowing, behavior, physical abilities, mental health, and families/carers. This encompasses all four dimensions of the WHO's International Classification of Functioning, Disability and Health (ICF).

Parkinson's Disease (PD)

• Idiopathic (unknown cause) is the most common form.
• Secondary PD can have multiple causes, such as trauma in boxing.
• Parkinson-plus syndromes like multiple system atrophy are also possible.
• PD begins in mid-to-later life.
• Prevalence is approximately 1 in 500 people.
• Symptom onset to death is roughly 9 years.

What Causes PD?

• PD is associated with a significant depletion of dopamine.
• Dopamine-producing neurons in the substantia nigra (part of the basal ganglia) are lost.
• A conclusive cause for the death of these neurons is currently unknown.
• Recent evidence implies that harmful protein clumps within these neurons may be the cause of cell death.

Basal Ganglia Recap

• Basal ganglia is a collection of subcortical nuclei.
• These include the corpus striatum (caudate and putamen), globus pallidus, subthalamic nucleus, and substantia nigra.
• They work together to control motor function.
• They facilitate the initiation/termination of movements and suppress extraneous movements by selectively activating and suppressing learned motor programs.

Parkinson's Disease (PD): Salient Characteristics

• Tremor (resting, "pill-rolling")

• Bradykinesia (slowness of movement, difficulty initiating movement) leading to:

  • Reduced facial expression ("mask-like facies")
  • Micrographia (small handwriting)
  • Dysarthria (speech difficulties)

• Rigidity ("cogwheel rigidity"—increased muscle tone)

• Other issues for SLTs: hypokinetic dysarthria, dysphagia, and associated cognitive issues (like dementia).

Non-motor Symptoms of PD

• Understanding of Parkinson's disease is evolving, with recognition of numerous non-motor symptoms.
• A comprehensive understanding of these symptoms is crucial for effective management and assessment.

PD – Neuropsychiatric Symptoms

• Memory and cognitive changes (including dementia)
• Depression
• Anxiety
• Hallucinations

Hypokinetic Dysarthria

• Speech features:
  • Imprecise consonants
  • Monopitch (single pitch)
  • Monoloudness (single loudness)
  • Reduced loudness
  • Brief rushes of speech (potential acceleration of AMRs, such as /papapa/)
  • Repetitive phonemes (possible neurogenic dysfluency)
  • Palilalia (repetitions of words/phrases)
  • Reduced vital capacity

PD: Cognitive/Language Issues

• Distractibility
• Impaired organizational and planning skills (executive functioning)
• Shared attention difficulties
• Memory problems
• Difficulty learning new information
• Problems with word retrieval
• Dementia (approximately 30% of cases)
• Lewy body dementia is sometimes seen or associated with PD

PD: Typical Swallowing Difficulties (Oral Prep/Oral Stages)

• Increased mastication time
• Limited mandible movement
• Repetitive tongue pumping
• Difficulty forming a cohesive bolus
• Slow oral transit

PD: Typical Swallowing Difficulties (Pharyngeal Stage)

• Delayed swallow trigger
• Reduced hyolaryngeal excursion, thus decreased airway protection during swallowing
• Piecemeal deglutition
• Reduced pharyngeal constriction
• Residue in valleculae and pyriform sinuses
• Silent aspiration
• Anterior saliva escape
• Fewer spontaneous swallows

PD: Typical Swallowing Difficulties (Oesophageal Stage)

• Feelings of oesophageal obstruction
• Reflux
• Chest pain
• General gastrointestinal dysfunction

PD Medication

• Levodopa (L-dopa)
• Levodopa/carbidopa combinations (e.g., Sinemet)
• "On-off" effects (impacts on assessment/intervention)
• Peak-dose dyskinesia (overcorrection of dopamine)

Aims of SLT Management in PD

• Maximising residual skills (e.g., LSVT, breath support)
• Maintaining functional communication
• Augmentative and alternative communication (AAC) systems (e.g., amplifiers)
• Ensuring safety of oral intake
• Reviewing for changes and adapting management accordingly
• Providing support and advice as a holistic approach

Lee Silverman Voice Treatment (LSVT)

• This therapy has a large and growing evidence base.
• Other variations of the therapy exist, such as voice modulation therapy.

Progressive Supranuclear Palsy (PSP)

• Now seen as distinct from Parkinson's disease (PD) but may be confused with it.
• Unknown cause.
• Rare (5 new cases per 100,000 people over 50 per year).
• Onset to death is approximately 10 years.
• Physical issues (balance, mobility, eye movements)
• Behavioral issues (irritability, apathy)
• Cognitive concerns (memory, reduced concentration)
• Speech (often includes spastic dysarthria) and swallowing problems, often more severe than in PD.

Huntington's Disease (HD)

• Inherited autosomal dominant neurodegenerative disorder.
• Symptoms develop in the fourth decade.
• Death occurs 15–20 years after onset.
• Affects approximately 4-7 individuals per 100,000.
• Equal male to female ratio.

Huntington's Disease (HD): Symptoms

• Chorea (uncontrolled movements) and rigidity
• Dystonia (sustained muscle contractions)
• Incoordination
• Eye movement abnormalities
• Weight loss
• Dysarthria (hyperkinetic—uncontrolled movements affecting speech)
• Dementia
• Dysphagia (swallowing difficulties)
• Personality changes
• Attention deficits
• Dementia
• Depression
• Specific language deficits

Huntington's Disease (HD): Specific Language Deficits

• Table listing language tasks, findings, and evidence related to language deficits, from Yorkston, Miller and Strand (1995).
  • Connected Speech: Reduced number of words, decreased syntactic complexity, reduced phrase length, and increased paraphasic errors.
  • Naming: More visually-based errors than normal, decreased confrontation naming.
  • Auditory Comprehension: Decreased understanding of subtle prosodic aspects, reduced token test scores.

Huntington's Disease (HD): Hyperkinetic Dysarthria

• Chorea impacting respiration, phonation, and articulation.
  • Respiration: Intensity changes, sudden forced exhalation/inspiration.
  • Phonation: Elevated pitch, harsh vocal quality.
  • Articulation: Prolonged and distorted phonemes.

HD: Speech Management

• Mild cases: use of relaxation techniques.
• Moderate cases: using environmental approaches, facilitated communication.
• Severe cases: AAC options, but note additional physical, cognitive, or behavioral issues may be present.

HD: Swallowing Issues

• Physical challenges and positioning difficulties.
• Whole body chorea.
• Lip, jaw, tongue movements affect oral phase
• Behavioral issues may impact swallow safety, including inappropriate consistencies.
• Need for additional calories.

HD: Specific Management Issues

• Awareness of the inherited nature of the disease.
• Genetic testing options.
• Early intervention is crucial.

Motor Neuron Disease (MND)

• Characterized by the loss of motor neurons in the motor cortex (UMN), brainstem (UMN & LMN), cranial nerves (LMN), and spinal nerves (LMN).
• Affects corticonuclear (corticobulbar) and corticospinal tracts.
• Most people are diagnosed after 40, with the highest incidence between 50 and 70 years old.
• Men are diagnosed approximately twice as often as women.
• Incidence: about two people in every 100,000 will develop MND yearly.

MND Types

• Amyotrophic Lateral Sclerosis (ALS)
• Progressive Bulbar Palsy (PBP)
• Primary Lateral Sclerosis (PLS)
• Progressive Muscular Atrophy (PMA)

MND: Symptoms

• Table showing upper motor neuron and lower motor neuron symptoms (weakness, reduced movement, increased muscle tone, strained/strangled voice, muscle atrophy, fasciculations, breathy voice).

SLT Diagnoses in MND

• Dysarthria, including anarthria and AOS.
• Cognitive issues (affect communication)
• Dysphagia (swallowing difficulties)

MND: Communication, SLT Role

• Early intervention to address communication difficulties early.
• Therapeutic relationship with the patient and their family.
• Support and understanding to help with the changes.
• Maintaining functional communication.

MND: Swallowing Problems

• Speech and swallowing often co-occur.
• Consistent pattern of decline.
• Reduced breath support/reduced airway protection (can be a cause of apnoea during swallowing)
• Reduced respiratory support may impact surgical intervention.
• Weakness impacting mastication, oral manipulation, and lipseal.
• Issues with thin liquids can be an initial sign of dysphagia (e.g., coughing).
• Saliva texture changes (xerostomia, escape)

MND: Early Stage Dysphagia Intervention

• Chin tuck maneuvers
• Specific swallow maneuvers, like supraglottic swallows.
• Dietary changes (avoiding foods that require extensive chewing, using thickened fluids)
• Advice on distractions and how to respond to choking episodes.
• Enteral feeding (PEG tube) discussions.

MND: Later Stage Dysphagia Management

• More intensive texture modifications (purees).
• Thickening fluids (for smoother swallowing)
• Increasing sensory awareness (e.g., temperature, taste).

MND: Late-Stage Dysphagia Management

• Enteral feeding potentially indicated (PEG).
• Consideration of multiple choking, aspiration episodes, and patient aversion.

MND: Dysphagia Management

• Regular review of swallowing.
• Discussion of eating/drinking options.
• Liaison with relevant medical teams.
• Supportive advice.
• Ongoing support for the patient and family.
• Supervision and support given to the SLT.

Multiple Sclerosis (MS)

• Progressive or remitting-relapsing autoimmune disease.
• Demyelination impacting the CNS.
• Myelin being stripped away by macrophages.
• Scar tissue formation (sclerosis).
• Nerve conduction block.
• Remitting-relapsing starts between ages 18 and 40, and progressive type starts later.
• Genetic as well as viral potential causation is proposed.

MS: Symptoms

• Symptoms vary depending on the CNS site affected.
• Symptoms include impairments to cognitive and behavioral domains.
• Symptoms are categorized according to different anatomical regions affected, including the cerebrum, spinal cord, brain stem, cerebellum, and optic nerve.

MS: Communication

• AOS is rare.
• Dysarthria (spastic, ataxic, mixed) is present in about 50% of instances.
• Language impairments include aphasia but are less common in comparison to the prevalence of the other symptoms.
• Executive/higher-order language problems like Word-finding difficulties are possible.
• Cognitive impairments such as memory, learning, problem-solving, and affect (e.g., depression).
• Fatigue experienced with exertion.

MS: Communication Management

• Dysarthria management involves breath control exercises for phonation and volume. Be aware of and address fatigue.
• Rate and pacing are management tools for equal and excessive stress patterns and fatigue.
• Assistive communication options (AAC), such as an alphabet board, can be considered.
• When considering AAC options, consider existing tremors, visual issues, spasticity, or ataxia, as these are all factors to consider.

MS: EDS Management

• Lesions often found in the brainstem.
• Symptoms are often associated with delayed swallow reflex and reduced pharyngeal peristalsis.

Neurodegenerative Disorders Summary

• PD, HD, MND, MS, Friedreich's ataxia.
• Progressive supranuclear palsy.
• Dementia.