Cerebral Palsy and Down Syndrome

Question 1

Generally describe cerebral palsy

Answer 1

• Non-progressive lesion in the brain prior to 2 years old
• caused by damage to or abnormalities in the developing brain areas that disrupt movement control, posture, and balance
• wide spread consequences w/deficits in multiple organ systems regions of body leading to sensory deficits, oral motor speech problems, musculoskeletal problems, problems in GI motility, seizures, & mental retardation
• movement related effects can he classified generally based on location & severity of lesion

Question 2

Cerebral palsy (cp) movement problems based locaten of lesion

Answer 2

• Pyramidal/corticospinal pathways: spastic cp
• Basal ganglia: dyskinatic cp
• Cerebellum: ataxic cp

Question 3

Cerebral palsy (cp) movement problems based on severity of involvement

Answer 3

• Monoplegic: one limb
• Diplegic: two limbs
• Hemiplegic: one side
• Quadriplegic: all 4 limbs

Question 4

Describe choreo-athetoid cp type (dyskinetic cp)

Answer 4

• Lack postural control, trunk muscles co-activation
• lack midrange motor control the most, use end range motions to accomplish tasks

Question 5

Describe the gross motor function classification system (GMFCS) for cp

Answer 5

• Based on age & functional skills, need for assistive devices, & wheeled mobility
• Age groups: before 2nd bday, b/w 2-4 bday, b/w 4-6 bday, b/w 6-12 bday, & blu 12-18 bday
• Functional level for each age group: I = mildest through V = most severe for that age grap

Question 6

Incidence and etiology of cerebral palsy cp

Answer 6

• 2nd most common neurological impairment affecting children after MR
• exact cause/time period is unknown but happens due to damage in the motor control systems of the brain during prenatal, perinatal, or postnatal periods
• incidence generally associated with low birth weight but can happen with normal birth weight

Question 7

Risk factors for cerebral palsy (cp) during pre, peri, and post natal stages

Answer 7

• Prenatal: maternal infection, maternal diabetes
• Perinatal: low birth weight (<1750g), low Apgar scores (< or equal to 4 at 5 min)
• Postnatal: neonatal infection, kernicterus, cerebrovascular accident

Question 8

Pathophysiology of cerebral palsy (cp)

Answer 8

• no consistent pathology
• various types of pathophysiological reasons
• genetic malformations
• hemorrhage intraventricular: injury from pressure
• hypoxia: tigers Ca influx -> cytotoxicity -> cell death; can result from decreased persuasion, thrombus, or embolus

Question 9

Postural reactions that might be delayed due to cerebral palsy (cp)

Answer 9

• Righting reactions: orients head in space and aligns head and body, used for developing head control and turning head & body, integrated in 5yrs when child starts to stand
• Protective reactions: downward LE, forward UE, sideways, backward, stepping; integration persists
• Equilibrium reactions: allows body to maintain equilibrium by keeping COG over BOS during slow movements, last to develop and integration persists

Question 10

Head and trunk righting developmental milestones for postural reactions

Answer 10

• Head righting: neck (immature) = 34wk gestation onset & 4-6mo integration; neck (mature) = 4-6mo onset & 5yrs integration; labyrinthine & optical = birth-2mo onset & integration persists
• Trunk righting: body (immature) = 34wks gestation onset & 4-6mo integration; body (mature) = 4-6mo onset & 5yrs integration; landau = 3-4mo onset & 1-2 yrs integration

Question 11

Protective and equilibrium developmental milestones for postural reactions

Answer 11

• Protective (integration persists): downward LE = 4mo onset; forward UE = 6-7mo onset; sideways UE = 7-8mo onset; backward UE = 9mo onset; stepping LE = 15-17mo onset
• Equilibrium (persists): prone = 6mo onset; supine = 7-8mo onset; sitting = 7-8mo onset; quadruped = 9-12mo onset; standing = 12-24mo onset

Question 12

Clinical manifestations of cerebral palsy (cp)

Answer 12

• persistence of primitive developmental righting reflexes: ATNR, STNR, TLR
• delayed development/persistence of postural reactions cause delayed achievement of developmental milestones
• motor control problems due to spasticity, dyskinesia (athetosis, chorea), and/or ataxia
• spasticity in iliopsoas & hip adductors (pushes femoral head posterolaterally)

Question 13

Musculoskeletal problems associated with cerebral palsy (cp)

Answer 13

• decreased sarcomeres
• weakness
• disadvantageous length tension relationship (bones grow faster than muscles)
• increased risk for contractures with increasing age
• oral motor problems causing feeding/speech problems

Question 14

Non-motor problems associated with cerebral palsy (cp)

Answer 14

• sensory impairment
• respiratory impairment
• GI motility problems
• seizures
• headache/vomiting (due tohydrocephalus)
• learning disabilities

Question 15

How to diagnose the location of lesson for cerebral palsy (cp)

Answer 15

• CT/MRI
• abnormal MRI findings in more than 89% of centenary palsy (cp) cases

Question 16

Treatment options for cerebral palsy (cp)

Answer 16

• Pharmacologic: muscle relaxants for spasticity management (baclofen, botulinum)
• Neurosurgery: dorsal rhizotomy, resecting posterior roots to decrease spasticity, usually performed at L2-L5 for near independent ambulators with abnormalities in posture & gait
• Orthopedic surgery: muscle/tendon releases (for contractures), muscle transfers (for muscle imbalances), bone procedure to correct alignment

Question 17

General prognosis for cerebral palsy (cp)

Answer 17

• most children with mild to moderate CP have normal life span with increased mortality risks before age 4 & after 50yrs due to respiratory/CV complications

Question 18

Ambulated potential/prognosis based on milestone achievements

Answer 18

• Monoplegic = 100%
• Hemiplegic = 100%
• Ataxia = 100%
• Diplegic = 60-90%
• Spastic quadriplegia = 0-70%
• Sits independently by 2yrs = good prognosis
• Sits independently by 3-4yrs = 50% community ambulation
• Presence of primitive reflexes after 2yrs = poor
• Absence of postural reactions after 2yrs = poor
• Independently crawled by 2.5yrs = good

Question 19

Therapeutic interventions for cerebral palsy (CP)

Answer 19

• symptomatic treatment, go by problems (ICF, HOAC)
• Early intervention: potential for improvement better <2yrs with 2x/wk of tx
• initial focus should be on recovery of impairments
• strategies to reduce tone, inhibit primitive reflexes, facilitate appropriate postural reactions, milestone achievement
• balanced approach when providing assistive devices, restoration vs compensation
• current focus on intense activity based training, to maximize functional independence

Question 20

Treatment strategies for cerebral palsy (CP) in supine/prone/sidelying positions

Answer 20

• trunk flexion with knees flexed feet flat on support surface, superman position in prone: integrates TLR
• promotes segmental rolling: counteracts HOB/NOB/BOB reactions
• sidelying: elongate weight bearing side
• weight bearing on elbows/hands to counteract STNR and improve head control

Question 21

Treatment strategies for cerebral palsy (CP) in quadruped, sitting, and kneeling positions

Answer 21

• Quadruped: all limbs weight bearing, perform dissociated movements of all limbs like crawling: integrates ATNR
• Sitting: scooting, practice righting/protective/equilibrium reactions
• Kneeling: dissociated posture to counteract primitive reactions

Question 22

Describe a family centered approach to treating cerebral palsy (CP)

Answer 22

• spend time with family
• listen carefully to parents
• make parents feel like partners in care
• be sensitive to family values, cultures, customs
• educate child’s family about options for care depending on their goals for the child, need for ongoing care, and prognostic outcomes
• match care plan with family’s expectations and available resources

Question 23

Assistive devices for cerebral palsy (CP)

Answer 23

• Low tech: wheeled walker, stander, and/or standing frame
• High tech: powered chair, speech generating device, and/or tilt in space chair

Question 24

Describe orthoses for cerebral palsy (CP)

Answer 24

• most common are the AFOs (ankle foot orthotic)
• used to minimize contractures by applying low load for prolonged durations
• used to assist with weight bearing with appropriate alignment by controlling spasticity
• Various types: rigid AFOs, hinged AFOs, DF-assist AFO, flexible polymer AFOs, supra-malleolar AFOs

Question 25

Describe adults with cerebral palsy (CP)

Answer 25

- with improved understanding & health care available for CP, longevity has improved - new area of concern with the effect of aging - present unique needs which require ongoing care - some problems: severe joint contractures, weakness, atrophy, degenerative arthritis, orthopedic deformities, pain - need ongoing therapy: strength training, aerobic conditioning, modification in ADs

Question 26

Incidence of Down syndrome

Answer 26

- AKA Trisomy 21, characterized by muscle hypotonia, cognitive delay, delayed development of gross motor skills, dysmorphic facial features, & other distinctive physical abnormalities - 1st genetic disorder attributed to chromosomal aberration - most common chromosomal disorder - rises sharply with increasing maternal age - before age 30 = 1/2000 people, age 35-39 = 1/50, and over 40 = 1/20 - prevalence has been increasing due to multiple factors

Question 27

Etiology of down syndrome

Answer 27

- no known cause - researchers have developed genetic models, gene mapping, cytologic, & epidemiological studies - multiple causative factors

Question 28

What is down syndrome

Answer 28

- chromosomal abnormality - 3 copies of chromosome 21 instead of a pair which results in 47 chromosomes instead of 46

Question 29

Genetic causes of Down syndrome

Answer 29

- can occur due to faulty meiosis of ovum or sometimes sperm - Mosaic presentation: faulty cell division after fertilization where only some cells show trisomy - 5-10% of cases also correlate to paternal age - another genetic cause is translocation of chromosomes 15, 21, and 22

Question 30

Gene for free radical defense in chromosome 21

Answer 30

- gene for superoxide dismutase is also present in chromosome 21 suggest role of free radical induced oxidative damage to cells

Question 31

Overexpression of neurotrophic factors that are coded on chromosome 21

Answer 31

- Astrocyte derived NF, S100β correlates to the degree of β-amyloid found in brain - can also lead to calcium induced cytotoxicity & increase in pro-inflammatory cytokines

Question 32

Pathogenesis of Down syndrome resulting overall gross neural pathology

Answer 32

- decrease brain weight & size of hemispheres, structural abnormalities in dendritic spines, decreased pyramidal neurons in hippocampus

Question 33

Describe early onset of Alzheimer's disease

Answer 33

- occur by age 40 in Down syndrome - due to abnormally high production of β-amyloid protein in extracellular matrix - Amyloid precursor genes are located in chromosome 21 so increased expression by triplicates - Amyloid precursor gene also impairs mitochondrial function

Question 34

Clinical manifestations of down syndrome

Answer 34

- flattened nasal bridge - up slanting palpebral fissures - epicentral folds (skin that covers the inner corner of the eyes) - almond shaped eyes - protruding fissured tongue - muscle hypotonia & joint hyperextensibility - delayed acquisition of gross motor skills - sensory impairment - obesity - diabetes mellitus - increased susceptibility to respiratory & ear infections, decreased immune response, increased incidence of some leukemias

Question 35

Musculoskeletal/orthopedic problems secondary to hypotonia & soft tissue laxity associated with down syndrome

Answer 35

- recurrent patellar dislocation - excessive foot pronation - scoliosis - slipped capital femoral epiphysis - hip dislocation

Question 36

Describe atlantoaxial or occipitocervical instability related to down syndrome

Answer 36

- due to laxity odontoid maldevelopment: defect in formation of the posterior arch - major cases are asymptomatic - may present with signs of spinal compression: hyperreflexia, clonus, + babinski sign, progressive weakness, loss of bladder/bowel control - educate about avoiding contact sports, gymnastics, driving & need follow up by medical team

Question 37

Gait problems associated with down syndrome

Answer 37

- smaller step length - knee hyperextension in stance - decreased single limb support time - decreased push off at terminal stance

Question 38

Delayed acquisition of motor skills associated with down syndrome

Answer 38

- slower postural reactions - increased variability in voluntary movement patterns

Question 39

Secondary disorders with advancing age associated with down syndrome

Answer 39

- obesity - DM - CV disease - degenerative OA of spine - osteoporosis - fractures of vertebral or long bones

Question 40

Medical diagnosis of down syndrome

Answer 40

- prenatal diagnosis can be made during 2nd trimester using triple screen - postnatal diagnosis begins with clinical findings - genetic studies showing trisomy 21 confirms diagnosis

Question 41

Medical treatment of down syndrome

Answer 41

- no known cure - treatment is based on specific clinical findings: antibiotics for infection, cardiac surgery (for AVSD), monitoring for development of Alzheimers - may pursue plastic surgery to eliminate facial features, might have a positive psychological influence on rehab

Question 42

Prognosis of down syndrome

Answer 42

- life span has improved with advances in medical & surgical care, but life expectancy still remains lower than general population - presence of congenital malformations of heart & GI tract can result in higher mortalities - common complications contributing to mortality in adults: acquired cardiac diseases, pulmonary HTN, recurrent respiratory infections, aspiration leading to interstitial lung disease & complications from Alzheimers

Question 43

Precautions in physical therapy for down syndrome

Answer 43

- activities resulting in increased forces on cervical spine may contraindicated - transportation in vehicle risky & may need extra support - lower oral motor tone interfere with feeding, since child breathes with mouth, lengthy sucking periods are difficult, may gag while eating solid food - need to educate parents, changing child's position frequently, postural drainage & percussion as necessary

Question 44

Role of physical therapy and exercise for down syndrome

Answer 44

- Activity training: to improve acquisition of developmental milestones and gross motor skills - Need to develop active lifestyle early. in life due to risk of development of obesity, DM, and CV disease - May benefit from aerobic conditioning - Caution: intensity, frequency, & duration should be modified from general ACSM recommendations as this population have lower HR max & VO2 max; vitals should be continuously monitored