Functional Ability Exemplars

Down Syndrome

Pathophysiology

  • Down syndrome is the most common chromosomal abnormality, usually caused by an extra chromosome 21 (trisomy 21).

  • In rare cases, it results from the translocation of chromosomes 15, 21, or 22.

  • The extra genetic material causes developmental changes affecting both physical and cognitive development.

Assessment

Risk Factors

  • Maternal Age:

    • Risk increases dramatically after age 35.

    • Women <30 years: 1 in 1000-2000 births.

    • Women >45 years: 3-5% risk.

  • Caused by nondisjunction during meiosis due to aging of maternal egg cells.

  • Paternal Age does NOT increase the risk.

Cues (Signs & Symptoms)

  • Distinctive physical features identifiable at birth.

  • Intellectual disability ranging from mild to profound.

  • Congenital heart malformations are common.

  • Developmental delays across multiple domains: physical, cognitive, communication, adaptive.

Diagnostics & Labs

  • Clinical diagnosis based on distinctive features at birth.

  • Chromosomal analysis confirms trisomy 21.

  • Cardiac evaluation for congenital heart defects.

Analysis/Diagnosis (Interrelated Concepts)

  • Impaired cognition (varying severity).

  • Developmental delay.

  • Risk for cardiac complications.

  • Impaired communication.

  • Need for early intervention services.

Planning (Outcomes)

  • Maximize developmental potential through early intervention.

  • Optimize functioning across all developmental areas.

  • Prepare for learning readiness (preschool-aged children).

  • Support family adaptation and coping.

Implementation

Medications

  • Condition-specific (e.g., cardiac medications if heart defects are present).

  • No medications treat Down syndrome itself.

Management & Interventions

  • Early intervention is critical; the earlier intervention occurs, the better the outcome.

  • Interprofessional collaboration may include:

    • Nursing and medical care

    • Physical therapy

    • Occupational therapy

    • Speech and language services

    • Psychological intervention

    • Individual/family counseling

    • Nutritional consulting

    • Play therapy

    • Audiology services

    • Assistive technologies.

Developmental Support

  • Age-appropriate communication strategies.

  • Teaching techniques matched to cognitive level.

  • Safety provisions.

  • Assistance with Activities of Daily Living (ADLs) as needed.

Patient Education

  • Family education on developmental expectations.

  • Anticipatory guidance for developmental milestones.

  • Health screenings and immunizations per schedule.

  • Community resources and support groups.

Evaluation

  • Monitor developmental progress.

  • Assess the effectiveness of interventions.

  • Evaluate family coping and readiness for educational settings.

Alzheimer’s Disease

Pathophysiology

  • Alzheimer's disease (AD) is a chronic, progressive condition that significantly impacts a patient's functional abilities across all daily living domains.

  • AD primarily affects cognition, involving the complex integration of mental processes and intellectual function for reasoning, learning, and memory.

  • Results in progressive deficits in:

    • Short-term memory: One of the first symptoms due to dysfunction in the hippocampal, frontal, or parietal regions.

    • Communication abilities: Including:

    • Apraxia (inability to use objects correctly).

    • Aphasia (inability to speak or understand).

    • Anomia (inability to find words).

    • Agnosia (loss of sensory comprehension).

    • Executive function: Problems with judgment, decision-making, attention span, and concentration due to frontal lobe impairment.

Assessment

Risk Factors

  • Older age (higher risk, especially older men at risk for suicide).

  • Genetic factors (family history).

  • Progressive cognitive decline.

Cues (Signs & Symptoms)
Early Stage:

  • Memory problems and cognitive changes.

  • Patient may attempt to hide problems.

  • Grieving process involving denial, anger, bargaining, and depression.

  • Suicide risk—especially in older men with depression and anxiety.

  • Awareness of cognitive decline.

Progressive Stage:

  • Major changes in emotional and behavioral affect.

  • Difficulty with ADLs.

  • Negative reactions to changes in routine or environment.

  • Loss of ability to recognize familiar faces.

  • Incontinence and disturbed sleep patterns.

Diagnostics & Labs

  • Thorough history and physical assessment is necessary to differentiate AD from reversible causes of cognitive impairment.

  • Obtain information from family members as patients may be unaware of their decline, may deny changes, or may cover them up.

Analysis/Diagnosis

  • Impaired memory and cognition.

  • Risk for injury.

  • Self-care deficit.

  • Risk for suicide (especially at diagnosis).

  • Caregiver role strain.

Planning (Outcomes)

  • Maintain safety and prevent injury.

  • Optimize cognitive function for as long as possible.

  • Maintain independence in ADLs.

  • Prevent complications such as falls or incontinence.

Implementation

Medications

  • Cholinesterase Inhibitors: Donepezil, galantamine, rivastigmine—delay acetylcholine (ACh) destruction, may slow cognitive decline.

  • NMDA Receptor Antagonist: Memantine—blocks excess glutamate, indicated for advanced AD.

  • Psychotropic Drugs: Prescribed for depression, anxiety, paranoia.

  • Note: No drugs cure or stop AD progression.

Management & Interventions

  • Structured Environment: Consistent routine; minimize distractions/noise.

  • Safety Measures: Remove potentially frightening decorations, ensure adequate lighting, avoid restraints.

  • Reality Orientation: For early-stage patients.

  • Validation Therapy: For moderate to severe AD—acknowledge feelings without arguing.

  • Toileting Schedule: Every 1-2 hours to prevent incontinence.

  • Cognitive Stimulation: Use of family videos and memory training.

  • Encourage Independence: In self-care, meal participation, and ADLs.

Patient Education

  • Keep objects in the same place for easy access.

  • Use communication boards with pictures to facilitate conversation.

  • Prepare patients for routine changes beforehand to reduce anxiety.

  • Maintain day-to-day orientation tools (e.g., clocks, calendars).

Evaluation

  • Monitor for maintained function, safety, symptom management, and caregiver support needs.

Parkinson's Disease

Pathophysiology

  • Widespread degeneration of the substantia nigra leads to a reduced level of dopamine (70-80% reduction causes symptoms).

  • Abnormal protein (alpha-synuclein) causes neuronal destruction.

  • There is an imbalance between excitatory ACh neurons and inhibitory dopamine, which prevents control of voluntary movement.

  • Lewy bodies (abnormal proteins) deposit in the brain, causing movement problems and can lead to Lewy body dementia.

Assessment

Risk Factors

  • Age >40 years.

  • Exposure to pesticides, herbicides, industrial chemicals/metals.

  • Familial tendency/genetic factors (mitochondrial DNA variations).

  • Traumatic brain injury (TBI)—especially in contact sports athletes and military veterans.

  • Combination of environmental and genetic factors.

Cues (Signs & Symptoms)
Stage 1:

  • Unilateral resting tremor (one arm), slow voluntary movements, reduced automatic movements.

Stage 2:

  • Bilateral symptoms worsen.

Stage 3:

  • Loss of balance, bradykinesia (slow movement), increased fall risk, "freezing" episodes.

Stage 4:

  • Requires a walker, assistance with ADLs, increased muscle stiffness.

Stage 5:

  • Advanced rigidity, difficulties chewing or swallowing (pharyngeal muscle involvement), mask-like face with fixed staring eyes.

Diagnostics & Labs

  • Clinical diagnosis based on findings after ruling out other neurologic diseases.

  • No specific diagnostic tests for PD exist.

  • Cerebrospinal fluid (CSF) analysis may show decreased dopamine; other results are usually normal.

Analysis/Diagnosis

  • Impaired mobility.

  • Risk for falls.

  • Self-care deficit.

  • Impaired swallowing (late stage).

  • Neuropsychiatric issues including impulse control, altered cognition, anxiety, and depression.

Planning (Outcomes)

  • Maintain mobility and independence.

  • Prevent falls and injuries.

  • Optimize quality of life.

  • Manage symptoms effectively.

Implementation

Medications

  • MAOI-B Inhibitors: Selegiline, rasagiline, entacapone—slow monoamine oxidase type B, increase dopamine, protect neurons. Often used with levodopa in early/mild PD.

Management & Interventions

  • For freezing gait: Step sideways then forward, shift weight side-to-side, visualize object to step over.

  • Exercise: Activities like yoga, tai chi, active/passive range of motion, muscle stretching.

  • Fall Prevention: Apply fall risk precautions according to policy.

  • Therapy Collaboration: Engage physical and occupational therapy for ADL training, adaptive devices, and promoting independence.

Patient Education

  • Safe medication administration protocols.

  • Importance of reporting adverse effects: dizziness, falls, confusion, hallucinations.

  • Strategies to maintain quality of life through symptom management.

  • Support for caregivers, as the patient may not be able to control neuropsychiatric symptoms.

Evaluation

  • Monitor mobility, fall prevention, medication effectiveness, and caregiver strain.

Cerebral Vascular Accident (CVA)

Pathophysiology

  • Ischemic Stroke (most common): Blockage of a cerebral artery by thrombus or embolus causes inadequate perfusion, leading to brain tissue ischemia and infarction.

  • Hemorrhagic Stroke: Results from vessel rupture, leading to bleeding into brain tissue (intracerebral hemorrhage, ICH) or subarachnoid space (subarachnoid hemorrhage, SAH).

    • ICH often results from severe/sustained hypertension.

    • SAH typically arises from a ruptured aneurysm or arteriovenous malformation (AVM).

Assessment

Risk Factors

  • Hypertension (leading cause).

  • Smoking, obesity, diabetes mellitus, elevated cholesterol.

  • Family history (first-degree relatives).

  • Substance use (cocaine, heavy alcohol).

  • Oral contraceptives in at-risk women.

  • Illicit drug use (causing hypercoagulability, vasospasm, hypertensive crisis).

Cues (Signs & Symptoms)

  • Sudden neurologic deficits.

  • Altered level of consciousness (LOC).

  • Motor changes and sensory deficits.

  • Visual problems and balance/gait issues.

  • Communication difficulties and reading/writing impairments.

  • Impaired airway defense leading to difficulty clearing the airway.

Diagnostics & Labs

Exemplar Tests

  • NIHSS (National Institutes of Health Stroke Scale): Completed immediately upon ED arrival to determine eligibility for IV fibrinolytics.

  • Glasgow Coma Scale (GCS): To monitor LOC throughout acute care.

  • Imaging Studies (CT/MRI): For evaluation and diagnosis.

  • History of recent bleeding or anticoagulant use.

Analysis/Diagnosis

  • Impaired cerebral perfusion.

  • Risk for ineffective airway clearance.

  • Impaired physical mobility.

  • Impaired communication abilities.

  • Risk for post-stroke depression (PSD).

Planning (Outcomes)

  • Restore/maintain cerebral perfusion.

  • Prevent complications (e.g., aspiration pneumonia, DVT).

  • Maximize functional recovery for daily activities.

  • Support patient/family adaptation to changes.

Implementation

Medications

  • IV Fibrinolytics: If eligible to restore blood flow.

  • Anticoagulants/Antiplatelets: For management of ischemic strokes.

  • Blood pressure management: Critical to prevent further complications.

Management & Interventions

  • Priority Action: Transport to a stroke center immediately.

  • Frequent Neurologic Assessments: Post-incident to monitor changes.

  • Airway Management: Critical for patients with altered LOC.

  • Mobility/Transfer Training: To maintain physical function.

Patient Education

  • Education on disease prevention, lifestyle modifications, and medication adherence.

  • Awareness of signs/symptoms of depression that may occur within 3 months post-stroke.

  • Encouragement of self-management skills and safety at home, especially regarding activity levels.

Evaluation

  • Monitoring neurologic status, functional recovery, caregiver strain, and indications of depression or dementia post-stroke.

  • Prevalence Stats: More than 795,000 strokes occur every year in the U.S.; it is the fifth leading cause of death and the leading cause of long-term disability.