The topic of this page is Dysautonomia/POTS, a condition we see occasionally at Shands. This is quite disabling and misunderstood, so I wanted to provide a brief overview.

What is Dysautonomia?

It’s an umbrella term for disorders of the Autonomic Nervous System (ANS).

• ANS regulates involuntary body functions (HR, BP, digestion, temperature, sweating) 
• In dysautonomia, ANS responds inappropriately to physiologic demands (standing, eating, stress, heat, exertion) 
• Includes:
  • POTS (postural orthostatic tachycardia syndrome) – by far, most common 
  • Vasovagal syncope 
  • Multiple system atrophy (neurodegenerative) 
  • Autoimmune autonomic ganglionopathy 
  • Secondary dysautonomia (small fiber neuropathy, DM, Parkinson’s, Ehler’s Danlos) 

What is POTS?

• Defined by:
  • Excessive HR increase on standing 
  • Without significant drop in BP 
• Diagnostic criterion:
  • HR increase >30 within 10 min of standing or tilt, without orthostatic hypotension 

How common is dysautonomia? POTS? 

• Dysautonomia: exact prevalence unknown, likely underdiagnosed 
• POTS: estimate 0.1-1% of population
  • 80-85% female 
  • Peak onset: adolescence to early adulthood 

What are are the symptoms of dysautonomia? 

• Cardiovascular
  • Tachycardia, palpitations, presyncope/syncope, chest discomfort, BP lability 
• Neurologic
  • Paresthesias, numbness, headache, brain fog, blurry vision 
• Fatigue, sleep disturbance 
• GI
  • Nausea, early satiety, bloating, abdominal pain, diarrhea 
• Thermoregulatory
  • Heat/cold intolerance, sweating changes, fever 
• Respiratory
  • SOB 
• MSK
  • Pain, weakness, blood poolign in legs/feet 
• GU
  • Urinary frequency, incomplete bladder emptying, sexual dysfunction 
• Psychiatric
  • Panic-like episodes, low mood, depersonalization/derealization, irritability 

Why can dysautonomia be confused with psychiatric conditions? 

• Symptoms overlap with anxiety and panic 
• Standard labs and imaging often normal 
• Symptoms worsen with stress 

How do you diagnose it? 

• Clinical history (most important) 
  • Orthostatic symptoms, triggers: standing, heat, meals, exertion, symptom relief when lying down 
• Objective
  • Orthostatic vitals 
• Supportive tests
  • Autonomic reflex testing 
    • Tilt-table testing: objective evidence of orthostatic intolerance 
    • Sudomotor testing: 50% of POTS shows abnormalities 
  • Labs (exclude other causes) 
    • CMP, CBC, thyroid function, EKG 
    • Targeted (based on sx)
      • Morning cortisol 
      • Echocardiography 
      • Supine/standing plasma catecholamines 
      • 24 hour urine sodium 
      • Gastric motility testing 
      • Serum tryptase (mast cell activation disorder) 

What is the treatment? 

• Non-pharm (first-line) 
  • Increase fluid/salt intake 
  • Compression garments 
  • Physical reconditioning 
  • Avoid heat/prolonged standing 
  • Small, frequent meals 
• Medications (selected patients)
  • Beta blockers, Ivabradine, fludrocortisone, midodrine, pyridostigmine, SSRI/SNRI (for autonomic modulation, not just anxiety) 
• Psychiatric support
  • Education/validation, CBT on coping, not sx dismissal 
  • Treat comorbid depression/anxiety 

We often see patients with feeding difficulties that don’t fit with anorexia nervosa, but are more attributable to food aversion/sensory issues. This is known as ARFID or avoidant/restrictive food intake disorder. Here is some background info.

• Overview:
  • Dx created in 2013 with DSM5. Very recent, so there’s not a lot of data about it.
  • Occurs across the lifespan, including adults
  • More common in males than females

• DSM criteria:
  • All must be met:
  • Avoidant/restrictive intake due to:
    • Low appetite
    • Sensory aversion
    • Or Conditioned fear/anxiety after aversive eating experiences
  • Results in ≥1:
    • Weight loss or poor growth
    • Nutritional deficiency
    • Dependence on supplements/enteral feeding
    • Psychosocial impairment
  • Not due to:
    • Food unavailability or cultural practice
    • Anorexia or bulimia (no weight/shape distortion)
    • Another medical or psychiatric condition(unless severity is disproportionate and clinically significant)
• Causes
  • Genetic vulnerabilities
  • Altered brain function/neurotransmitters/circuits
  • Medical illnesses (GI disorders, allergies/intolerances, oral-motor dysfunction, metabolic abnormalities)
  • Anxiety and fear
  • Way to gain control over chaotic circumstances
  • Dysfunctional beliefs about food
  • Early feeding experiences/parenting styles/mealtime routines
  • Family conflict, pressure to eat
  • Cultural norms and societal pressure about “healthy eating”
• Key distinguishing features
  • Not driven by weight/body image concerns
  • Often first presents in pediatrics/GI clinics, not psychiatry
• Drivers of food avoidance:
  • Low appetite/lack of interest in food
  • Sensory aversion (taste, texture, smell, temperature, appearance)
  • Fear of aversive consequences of eating
    • GI distress, vomiting, choking
• Psychiatric comorbidity
  • Anxiety disorders common (GAD)
  • Also:
    • Panic disorder
    • Social anxiety disorder
    • Autism spectrum disorder
    • ADHD
    • Mood disorders
    • Internet gaming disorder
• Medical complications
  • Similar to anorexia nervosa when underweight
    • Cardiac, endocrine, GI
  • Stunted growth in children
  • Vomiting prominent: electrolyte abnormalities
• Treatment
  • Psychotherapy
    • CBT, exposure, family-based treatment
  • Medications
    • Appetite stimulants, antidepressants, meds to treat GI symptoms

We received a consult to evaluate for “abulia vs akinetic mutism”. You may be unfamiliar with these terms. Here is a brief overview:

Definition

Akinetic mutism is the most severe presentation along a spectrum of disorders affecting motivation and initiation.

Least severe      Apathy –> Abulia –> Akinetic mutism             Most severe

These patients have the ability to think, move, and speak. But they lack the drive to initiate.

-Where they land on the spectrum depends on their degree of impairment.

• Apathy: Low motivation but still functions independently
  • (apathy = nonspecific term and has broader implications than abulia and akinetic mutism which often hint at specific dysfunction in brain circuits as below)

    -Abulia: Marked decrease in initiation, needs prompting to act

    -Akinetic mutism: Near-complete lack of movement (akinesia) and speech (mutism)

        -Initiation is essentially absent, despite prompting

Akinetic mutism is a SYNDROME. When you identify it, you need to investigate its etiology. The term alludes to dysfunction in frontal-subcortical circuits.

Similarly, making a diagnosis of abulia is hinting at dysfunction in frontal-subcortical circuits.

-Usually made in the context of neurologic illness (ie stroke, TBI, neurodegeneration).

Supportive features in diagnosis of akinetic mutism:

-Confirm wakefulness

-Confirm that capacity to move and speak is intact

-Demonstrate lack of spontaneous speech and movement

-Look for stimulant-induced activation (“telephone effect” – they will suddenly answer the phone with a sudden, abrupt stimulus)

-Check affect (minimal distress, different than depression)

-Check history:

    -Hx of frontal lobe lesion, basal ganglia/thalamic stroke, hydrocephalus

    -Imaging supporting frontal-subcortical involvement

Differential Diagnosis/Possible Causes of Low Motivation:

-Neurologic

    -Lesions involving frontal lobe, basal ganglia, thalamus, white matter

-Medication-related

    -Dopamine blockade (antipsychotics), sedatives

-Neurodegenerative

    -Parkinson’s, Alzheimer’s, Frontotemporal dementia

-Psychiatric

    -Depression (however in depression, will want to act, but are unable. In abulia, there is no drive)

-Medical/systemic

    -Delirium, endocrine disorders

Other differentials:

-Catatonia

-Minimally conscious state

-Locked-in syndrome

Pathophysiology:

–Failure of frontal-subcortical motivation circuit.

    -Problem at any of the “nodes” within the circuit.

    -Key locations:

        -Anterior cingulate cortex (ACC)

        -Striatum

        -Globus pallidus (GPi)

        -Thalamus

    -This leads to loss of Dopamine-driven “energizing signal” –> over-inhibition of thalamus (via GPi) –> decreased frontal activity –> decreased initiation of behavior and speech

   -Akinetic mutism (AM) = network disconnection syndrome (not a single lesion problem)

Treatment:

    -Treat underlying cause (stroke, tumor, hydrocephalus, etc)

    -Possible meds:

        -Dopamine-based

            -Bromocriptine, levodopa

        -Stimulants/frontal activation

            -Methylphenidate

            -Atomoxetine

        -Zolpidem (diagnostic and therapeutic)

We get a TON of consults for agitation in delirium and dementia. Our treatment plan often involves prescription of one or more medications. 

But an often underappreciated aspect in care is behavioral interventions. 

Agitation in a delirious patient or patient with dementia often reflects an unmet need. They do not have the ability to communicate their need, so their behavior is the communication of the need.

Some common needs:

• Physiologic –***Always start here!***
  • Pain
  • Sleep
  • Hydration
  • Nutrition
  • Elimination (urine, stool)
  • Oxygenation
  • Elimination (urine, stool)
  • Temperature comfort
• Cognitive
  • Orientation (time, place, situation)
  • Predictability
  • Simplicity
  • Ability to understand what’s happening
• Sensory
  • Vision (glasses)
  • Hearing
  • Appropriate lighting
  • Reduced noise
• Emotional
  • Safety
  • Reduced fear/anxiety
• Social
  • Familiar people/family presence
• Autonomy –***HUGE!***
  • Ability to make choices
  • Control over body/environment
• Identity
  • Dignity
  • Sense of self
• Environmental
  • Reduced overstimulation
  • Day-night cues

When they have agitation, they are trying to solve a problem with a brain that can’t communicate clearly. So your job becomes figuring out:

    -What problem are they trying to solve?

–Ex: pulling lines: discomfort, fear

         Yelling: pain, loneliness, or overstimulation

         Refusing care: loss of control

         Trying to leave: need to toilet

Always ask: “What Changed?” to worsen the behavior

Thinking along these lines helps you be more sophisticated in your evaluation of the patient with agitation!

Some other specific scenarios:

***Loss of control:

    -Offer limited, safe choices

        (Instead of you need to stay in bed –> Would you like to walk now or after lunch?)

    -Replace unsafe behavior with safe version

        (Want to get out of bed, have supervised walking)

    -Give them a purpose to work toward

        (Your job is to rest now so you can get stronger to go home)

    -Use presence instead of force

        (Have someone sit with them, engage them)

    -Reduce the prison feeling

        (Open blinds, normalize environment, sit upright)

Agitation due to:

***Discomfort with tubing (ex: NG tubing):

    -Optimize the physical discomfort

        (Check placement, reduce tension, lubricate nares, oral care, ice chips if allowed, treat nausea/pain)

    -Offer choices

        (Do you want to sit up or lie back?)

    -Keep tubing out of direct line of sight

    -Calm the environment

        (reduce noise/clutter, have appropriate lighting)

    -Use sitter to offer presence

        (sit with them, coach them – try taking slow breaths through your mouth)

***Discomfort with restraints:

    -Reassure that they are safe and that restraints are temporary to keep them safe

    -Offer choices

          (Do you want your head up or down? Do you want water now or in a few minutes? Do you want the TV on or off?)

    -Calm the environment

        (reduce noise, appropriate lighting for time of day)

    -Frequent repositioning + Skin care

    -Scheduled release trials

***When a patient can’t communicate (ie: severe TBI):

    -Assume pain/discomfort until proven otherwise

    -Treat “basic needs” first

        (pain, urinary retention, constipation, positioning discomfort, hunger/thirst, temperature, lines/tubes irritation)

    -Look for timing patterns

        (after feeds – GI discomfort, during care – overstimulation or pain)

    -Use trial and response approach

        (test hypotheses, try addressing pain, positioning, toileting – see if agitation improves)

    -Discuss observations from nursing (high yield) or family

    -Calm the environment

***Need to void but not aware catheter meeting that need:

    -Rule out physiologic causes

                                (ensure catheter not kinked, assess for urinary retention or stool burden which can cause urinary urgency, check for UTI/irritation)

    -Offer bedpan or commode trial

          (Sit them upright to mimic normal voiding posture, tell them “we’ll give you a moment” to provide privacy cue)

    -Show them the tubing

        (point to urine bag)

    -Recheck unmet needs (pain, stool, position)

    -Increase supervision

                                (family, sitter)