Unit 5 - Neurologic Conditions I and Genetic Conditions

Cerebral Palsy Definition

“Cerebral palsy describes a group of permanent disorders of the development of movement and
posture, causing activity limitations that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain”

CP

Typical Impairments

• Motor

• Cognition

• Behavior

• Communication

• Sensation

• Perception

CP

Etiology

• Exact cause is often unknown

• In utero disturbances in the developing brain

• Significant contribution of prenatal factors

• Premature birth or atypical intrauterine growth can increase risk

• Cerebral vascular events occurring within the first 28 days after birth are a significant cause of CP

• There may be a link to genetics

How is a Diagnosis of CP Made?

• Combined findings from the neurological assessment, neuroimaging, and assessment of posture and movement

• Clinical diagnosis

• Physical therapists play a role in early referral

• Pediatric physician specialist to rule out other causes

CP Medical Management

Surgical Interventions

• Selective Dorsal Rhizotomy (SDR)

• Tenotomy

• Osteotomy

• Tendon transfer

CP Medical Management

Medication Options

• Spasticity and Dystonia Management – oral medications

  • Baclofen (oral or intrathecal), diazepam, tizanidine Artane, and dantrolene

• Botox Injections

  • Prevents the release of ACH at neuromuscular junction

  • Lasts 4-6 months

  • Peak effects at 2 weeks postinjection

CP

Secondary Conditions

• Contractures

• Skeletal malalignment

• Muscle disuse atrophy

• Decreased cardiovascular endurance

• Pain

• Decrease in bone mineral density

CP-Specific Tests & Outcome Measures

Body Function and Structures

• Modified Tardieu scale

• Spinal Alignment Range of Motion Measure

• Selective Control Assessment of the Lower Extremity

• Accelerometers

• Non-Communicating Children’s Pain Checklist/Pain Assessment Instrument for Cerebral Palsy

CP-Specific Tests & Outcome Measures

Activity & Participation

• Timed distance tasks (walking or wheeled mobility)

• Gait Laboratory Assessment/Video Assessment/Edinburgh Gait Score

• Gross Motor Function Measure (GMFM)

• Pediatric Evaluation of Disability Inventory (PEDI)/PEDI-CAT

• Activity Scale for Kids

• Child Engagement in Daily Life

• Assessment of Life Habits

• Lifestyle Assessment Questionnaire for Cerebral Palsy

• Alberta Infant Motor Scales (AIMs)

• Test of Infant Motor Performance (TIMP)

CP-Specific Tests & Outcome Measures

Environment

Craig Hospital Inventory of Environmental Factors

CP-Specific Tests & Outcome Measures

Quality of Life

• Pediatric Quality of Life Inventory (PedsQL), version 3.0, Cerebral Palsy Module

• Caregiver Priorities and Child Health Index of Life with Disabilities

• Cerebral Palsy Quality of Life Questionnaire for Children

CP

Focus of PT Goals and Intervention

• Minimizing the impact of primary impairments

• Preventing secondary impairments, physical deterioration, and pain

• Maximizing function

• Promoting participation in age and developmentally appropriate home, school, leisure, social, and employment activities to optimize quality of life

CP

PT Intervention – Dosing

• The number of direct service visits is less important than the total dose of an intervention

• “Dose” includes:

  • Frequency of visits

  • Intensity or strenuousness of activities

  • Time per session

  • Type or focus of intervention

CP

PT Intervention Planning Considerations

• Family-centered and relationship-focused services

• Effective communication and coordination with other service providers

• Goal-focused

• Use of ICF and functional frameworks

• Individualized or “tailored” intervention plans

• Task-specific activities

• Incorporate motor learning strategies

  • Problem-solving

  • Task specificity

  • Active trial and error

  • High-frequency of practice

  • Self-correction, exploration

  • Learning and practice in real-life environments

  • Compensations, task modifications, or environmental adaptations to accommodate a child

• Life span approac

CP

PT Interventions

• Task-Oriented Practice by Facilitating Motor Milestones

• Muscle and Joint Extensibility through Serial casting, Orthoses, and/or Positioning

  • * Daily short-duration passive stretching programs to maintain muscle length lack evidence to support outcomes

• Task-Specific Muscle Strength Programs

  • 1–3 sets of 6–15 repetitions at 50%–85% repetition maximum at a frequency of 2–4 times a week on nonconsecutive days.

  • Training periods = 12–16 consecutive weeks

• Additional Interventions with strong evidence:

  • Constraint Induced Movement Therapy (CIMT)

  • Bimanual Hand Function

  • Hippo Therapy

  • Partial-Body Weight Support Treadmill Training

  • Treadmill Training

CP is classified by:

1. Level of function (GMFCS)

2. Topographic distribution - impairments in body functions and structure/body part(s) affected

3. Atypical Movement type

CP

Classification by Level of Function

Gross Motor Function Classification System (GMFCS)

• For children with CP

• Birth through age 18

CP

Gross Motor Function Classification System (GMFCS): Level 1

CP

Gross Motor Function Classification System (GMFCS): Level 2

CP

Gross Motor Function Classification System (GMFCS): Level 3

CP

Gross Motor Function Classification System (GMFCS): Level 4

CP

Gross Motor Function Classification System (GMFCS): Level 5

CP

Classification by Topographic Distribution

Diplegia

Lower limbs affected more than upper

CP

Classification by Topographic Distribution

Hemiplegia or Hemiparesis

Upper and lower limbs on one side of the body

CP

Classification by Topographic Distribution

Quadriplegia or Tetraplegia

All limbs

CP

Classification by Atypical Movement Type

Spastic

• Site of Lesion

  • Motor cortex or white matter projections to and from cortical sensorimotor areas of the brain

• Objective Signs

  • Increased muscle tone and DTRs, Spasticity present

• Movement Description

  • Spasticity and exaggerated reflexes result in abnormal patterns of posture and movement

CP

Classification by Atypical Movement Type

Dyskinetic (Dystonic, Athetotic)

• Site of Lesion

  • Basal ganglia

• Objective Signs

  • Fluctuating muscle tone

• Movement Description

  • Atypical patterns of posture and involuntary, uncontrolled, recurring, and slow, continuous writhing movements with unstable posture

CP

Classification by Atypical Movement Type

Ataxic

• Site of Lesion

  • Cerebellar

• Objective Signs

  • Positive cerebellar signs

• Movement Description

  • General instability, abnormal patterns of posture, and a lack of orderly, coordinated, rhythmic, and accurate movements

CP

Classification by Atypical Movement Type

Mixed – spasticity and dyskinesia

Symptoms of spasticity and dyskinesia may be present

Down Syndrome

Etiology

• Genetic condition resulting from trisomy 21 (3 copies of 21st chromosome)

• Occurs in ~1 in 700 live births, 6000 babies born yearly in the US

• Most common chromosomal condition diagnosed in the US

Down Syndrome

Physical Characteristics

Every system of body can potentially be affected:

• Hypotonia

• Small head

• Epicanthal folds

• Flat nasal bridge

• Upward-slanting palpebral fissures

• Brushfield spots

• Small ears and mouth

• Excessive skin at nape of neck

• Single transverse palmar crease

• Short 5th finger with clinodactyly (curvature) and wide spacing

• Deep plantar groove between 1st and 2nd toes

Down Syndrome

Diagnosis and Prognosis

Prenatal screening

• Maternal blood tests

• Ultrasound looking for nuchal translucency which tends to be more prominent

Down Syndrome

Secondary Conditions/Comorbidities

Cardiopulmonary Conditions

• Congenital heart defects

  • Atrial septal defects

  • Ventricular septal defects

  • Atrioventricular septal defects

• Obstructive sleep apnea

Down Syndrome

Secondary Conditions/Comorbidities

Endocrine disorders

• Hypothyroidism

• Type 1 diabetes mellitus

Down Syndrome

Secondary Conditions/Comorbidities

Gastrointestinal disorders

Gastroesophageal reflux disease (GERD)

Down Syndrome

Secondary Conditions/Comorbidities

Sensory system impairments

• Hearing deficits

• Vision deficits

Down Syndrome

Secondary Conditions/Comorbidities

Multisystem comorbidities

• Obesity

• Leukemia

• Pain

Down Syndrome

Secondary Conditions/Comorbidities

Neurological Conditions

• Seizures due to the reduced overall brain volume

• Cognitive disability

• Delayed language development

• Alzheimer's type dementia

• Depression

Down Syndrome

Secondary Conditions/Comorbidities

Musculoskeletal Abnormalities

• Hypotonia

• Ligamentous laxity

• Joint hypermobility

• Decreased bone mineral density

Down Syndrome

Diagnosis Specific Outcome Measures

Body Structure and Function

• Height

• Weight

• Body Mass Index (BMI)

• Head circumference

Down Syndrome

Diagnosis Specific Outcome Measures

Activity Level

Gross motor function

• GMFM-88

Down Syndrome

Movement Characteristics

• Gross motor delay-resulting from hypotonia

• Decreased strength (upper and lower extremity)

  • Hypermobile joints

  • Increased flexibility

  • Rounded shoulder posture

  • Decreased activity tolerance

• Skeletal malalignment- resulting from hypotonia and ligamentous laxity

  • Patellar instability, genu valgum, pes planus, hallux valgus

• Impaired postural control- resulting from overuse of inefficient co-contraction strategies, insufficient balance reactions, impaired proprioceptive feedback

Down Syndrome

Gait

• General qualitative differences

  • New walkers with DS have similar patterns to typically developing new walkers

  • Use more conservative strategies initially, more variability with age

• Decreased gait velocity, stride length, increased step width

• Increased hip and knee flexion

  • Increased knee flexion due to overall muscle weakness

• Lower arches leads to increased foot external rotation & decreased ankle power

Down Syndrome

Precautions/Considerations

• Ligamentous laxity affecting the atlanto-occipital region of cervical spine

• Diagnosis is challenging and controversial requiring imaging

• Symptoms of spinal cord compression include:

  • Easy fatiguability

  • Difficulty walking

  • Abnormal gait

  • Neck pain

  • Limited neck mobility

  • Torticollis

  • Change in hand function

  • New onset of urinary retention or incontinence

  • Incoordination and clumsiness

  • Sensory impairments

  • New onset of spasticity

Down Syndrome

Physical Therapy Management

Early Intervention (0-3yrs)

• Task specific practice

  • High repetitions

  • Visual feedback

  • Modeling

• Coaching parents on facilitating exploration, motivation, persistence, problem solving

• Tummy time (early emphasis before 11wks)

• Orthoses to support excessive pronation

• Treadmill training

Down Syndrome

Physical Therapy Management

Intervention 3-18yrs

• Progressive resistance training

• Balance training

• Whole body vibration

• Orthoses

• Aerobic training

  • Jumping

  • Biking

  • Dance