National Amyotrophic Lateral Sclerosis (ALS) Registry

Main Content

Completed Risk Factor Surveys

Advanced Care Planning in Amyotrophic Lateral Sclerosis

Mario B. Prado Jr., MD, FPNA

Outline

  • Introduction
  • Epidemiology
  • Diagnostic Criteria
  • Diagnosis Communication/Breaking the Bad News
  • Treatment
  • Respiratory Care
  • Nutrition
  • End of Life Care
  • Opportunity for Research

Epidemiology

Diagnosis

PSEUDOBULBAR PALSY, FORCED YAWN, JAW AND SNOUT REFLEXES

TROMNER, HOFFMAN, FINGER FLEXOR REFLEXES

ABSENT ABDOMINAL REFLEX

BABINSKI SIGN

  • ACTIVE DENERVATION: FIBRILLATION AND PSW
  • RE-INNERVATION: HIGH AMPLITUDE POLYPHASIC MUP’s

EL ESCORIAL, MADRID, SPAIN

AWAJI, HYOGO PREFECTURE, JAPAN

Revised El-Escorial Criteria

  • BULBAR REGION
    • DEFINITE ALS: 3 SEGMENTS
  • CERVICAL REGION
    • PROBABLE ALS: 2 SEGMENTS
  • THORACIC REGION
    • LABORATORY SUPPORTED: 1 SEGMENT +2 LMN DIAGNOSED BY EMG NCS
  • LUMBOSACRAL REGION
    • POSSIBLE ALS

El Escorial Criteria vs Awaji Criteria

  • Awaji recognizes the importance of electrophysiologic findings in the diagnosis of ALS (Active Denervation with Reinnervation)
  • Electrophysiologic findings may be found before overt weakness appear
  • Electrophysiologic findings have the same weight as LMN clinical signs
  • Probable ALS- Laboratory Supported removed
  • Specificity: 99.5%
  • Sensitivity: 45→57%

ACTIVE DENERVATION: FIBRILLATION AND PSW RE-INNERVATION: HIGH AMPLITUDE POLYPHASIC MUP’s

Gold Coast Criteria

  1. .Progressive motor impairment – documented by history or repeated clinical
    assessment, preceded by normal motor function,
    and
  2. .Presence of upper and lowers motor neuron dysfunction in at least 1 body region, (with upper and lower motor neuron dysfunction noted in the same body region if only one body region is involved) or lower motor neuron dysfunction in at least 2 body regions, and
  3. Investigations excluding other disease processes

New Ancillary Methods

  • Neuromuscular Ultrasound
    • Non invasive way of detecting fasciculations in patients with ALS
    • Done by placing the probe in the affected muscles including the tongue

Sensitivity of NMUS vs EMG in detection of
fasciculation in select muscles of patients with ALS

Excitability Studies

  1. Threshold Tracking Transcranial Magnetic Stimulation – decreased cortical inhibition = hyperexcitable upper motor neurons
  2. Axonal Excitability Studies – increased axonal membrane depolarization= shyperexcitable lower motor neurons

Dissociated muscle atrophy

  • SPLIT HAND SIGN
  • SPLIT ELBOW SIGN
  • DISSOCIATED LEG MUSCLES

DIAGNOSIS COMMUNICATION

BREAKING THE BAD NEWS

Why breaking the bad news is difficult for
doctors?

    1. Fear of messenger being blamed for the bad news
    2. Perceived lack of time
    3. Lack of training
    4. Fear of causing distress
    5. Fear of being asked difficult questions
    6. Invoking fears of one’s own mortality

Diagnosis Communication

  • Marks the end of the diagnostic process and represents the start of treatment
  • 82% of doctors in US and Europe deliver the
    news right away
  • 20% of patients are told about their
    diagnosis in Japan

Beneficence vs Autonomy

Diagnosis Communication

Process

  • In person
  • In a quiet and comfortable location
  • At a convenient time
  • Permitting the patient to question or express doubts
  • Patient should be accompanied by caregiver

Content

  • Course and outcome (74%)
  • Disease modifying therapies (68%)
  • Ongoing research (68%)
  • Specific name of illness (11%)
  • Pharmacology (8%)

Multidisciplinary Approach

  • Neurologist
  • Pulmonologist
  • Respiratory Therapist
  • Rehabilitation MD
  • Occupational Therapist
  • Physical Therapist
  • Gastroenterologist
  • Nutritionist
  • Palliative Care Physician
  • Etc

Is There a Cure?

Riluzole

  • Anti-glutamate drug
  • Dose: 100mg daily
  • Improve the 1 year survival by 15%
  • Prolong survival by 3 months after 18 months of intake
  • NNT: 11
  • More benefit: 1)Younger patients with bulbar onset 2) longer diagnostic delay
  • NOT AVAILABLE IN THE PHILIPPINES

 

Other drugs

  • Edaravone
    • Free radical scavenger
    • Use is limited by:
      • stringent inclusion criteria
      • Limited duration of data
      • Complicated mode of administration
  • High Dose Vitamin B
    • Not yet published

 

No cure for ALS until now

Symptomatic Management

  • Sialorrhea- amitriptyline, scopolamine, glycopyrrolate, atropine drops, BOTOX injection, irradiation
  • Spasticity- regular physical therapy, baclofen, tizanidine
  • Cramping- levetiracetam, mexiletine
  • Dysarthria/Communication
    • Writing (pen and paper) or E-writers
    • Text to speech applications
    • Eye Gaze technologies
    • Voice banking options

Respiratory Care

  • Due to degeneration of the phrenic nerve
  • Initial manifestations:
    • Nocturnal hypoventilation
    • Morning headaches
    • Orthopnea
    • Easy fatigability
  • Indications for Respiratory Assistive Device (NIV and IMV)
    • Dyspnea
    • O2 saturation is below 89%
    • CO2 is above 45 mmHg
    • FVC is below 50%
    • SNIP is below 40%
    • MIP is above 60 cm H2O
  • NON INVASIVE VENTILATION
    • Improves quality of life and survival by at least 1 year
    • Part of standard of care for patients with ALS
  • INVASIVE MECHANICAL VENTILATION
    • If no improvement after NIV has been maxed
    • Improve QOL and survival for at least 2 years
    • Only 5% want tracheostomy

Other Respiratory Care Concerns

  1. Mechanical Insufflation- Exsufflation- 3-5 coughs done in rapid succession several times a day
  2. Diaphragmatic Pacing (DP)- more mortality among patients in DP were observed hence this technique is currently not recommended.

Nutrition

  • 5% weight loss= 30% increased risk of death
  • Recommendations:
    • Adequate calorie diet
    • Dietary texture modification
    • Use of adaptive eating utensils
    • Use of swallowing techniques (supraglottic swallow and chin tuck maneuver)

When do we advise PEG insertion?

  • Weight loss of around 5-10%
  • BMI of less than 20mg/kg
  • Presence of bulbar symptoms
  • FVC of more than 50%
  • PRG is recommended if FVC is less than 50%
  • Parenteral nutrition is recommended if PEG, PRG or NGT is contraindicated

End of Life Care

  • Hospice Care (Non-malignant admissions)
    • 48% ALS
    • 18% Pulmonary (COPD)
    • 13% Cardiovascular (Heart Failure)
    • 10% Neurologic (Stroke)
    • 10% Other Diagnosis
  • Most common symptoms
    • Dyspnea, Pain and Fatigue
  • Dyspnea, Pain and Fatigue
    • Difficult to swallow (87%)
    • Receive antidepressant, antibiotics and laxatives
  • Hospice Referral:
    • Nutritional
    • Functional
    • Respiratory
  • Conversations regarding end of life decision-making should be held early in the disease course before a respiratory or nutritional crisis occurs
  • Quality of life discussions include defining what interventions are consistent with the patient’s wishes
  • Palliative and hospice care may have a role
  • Caregiver fatigue and burden should be assessed on a ongoing basis

Goals for the future

  • ALS Referral Center
  • Establishment of Prevalence and Incidence
  • ALS support group
  • Increase ALS research output