Cerebral Palsy and Down Syndrome Flashcards

1
Q

Generally describe cerebral palsy

A
  • 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
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2
Q

Cerebral palsy (cp) movement problems based locaten of lesion

A
  • Pyramidal/corticospinal pathways: spastic cp
  • Basal ganglia: dyskinatic cp
  • Cerebellum: ataxic cp
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3
Q

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

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

Describe choreo-athetoid cp type (dyskinetic cp)

A
  • Lack postural control, trunk muscles co-activation
  • lack midrange motor control the most, use end range motions to accomplish tasks
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5
Q

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

A
  • 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
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6
Q

Incidence and etiology of cerebral palsy cp

A
  • 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
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7
Q

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

A
  • 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
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8
Q

Pathophysiology of cerebral palsy (cp)

A
  • 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
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9
Q

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

A
  • 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
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10
Q

Head and trunk righting developmental milestones for postural reactions

A
  • 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
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11
Q

Protective and equilibrium developmental milestones for postural reactions

A
  • 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
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12
Q

Clinical manifestations of cerebral palsy (cp)

A
  • 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)
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13
Q

Musculoskeletal problems associated with cerebral palsy (cp)

A
  • 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
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14
Q

Non-motor problems associated with cerebral palsy (cp)

A
  • sensory impairment
  • respiratory impairment
  • GI motility problems
  • seizures
  • headache/vomiting (due tohydrocephalus)
  • learning disabilities
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15
Q

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

A
  • CT/MRI
  • abnormal MRI findings in more than 89% of centenary palsy (cp) cases
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16
Q

Treatment options for cerebral palsy (cp)

A
  • 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
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17
Q

General prognosis for cerebral palsy (cp)

A
  • 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
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18
Q

Ambulated potential/prognosis based on milestone achievements

A
  • 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
19
Q

Therapeutic interventions for cerebral palsy (CP)

A
  • 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
20
Q

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

A
  • 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
21
Q

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

A
  • 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
22
Q

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

A
  • 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
23
Q

Assistive devices for cerebral palsy (CP)

A
  • Low tech: wheeled walker, stander, and/or standing frame
  • High tech: powered chair, speech generating device, and/or tilt in space chair
24
Q

Describe orthoses for cerebral palsy (CP)

A
  • 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
25
Q

Describe adults with cerebral palsy (CP)

A
  • 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
26
Q

Incidence of Down syndrome

A
  • 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
27
Q

Etiology of down syndrome

A
  • no known cause
  • researchers have developed genetic models, gene mapping, cytologic, & epidemiological studies
  • multiple causative factors
28
Q

What is down syndrome

A
  • chromosomal abnormality
  • 3 copies of chromosome 21 instead of a pair which results in 47 chromosomes instead of 46
29
Q

Genetic causes of Down syndrome

A
  • 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
30
Q

Gene for free radical defense in chromosome 21

A
  • gene for superoxide dismutase is also present in chromosome 21 suggest role of free radical induced oxidative damage to cells
31
Q

Overexpression of neurotrophic factors that are coded on chromosome 21

A
  • 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
32
Q

Pathogenesis of Down syndrome resulting overall gross neural pathology

A
  • decrease brain weight & size of hemispheres, structural abnormalities in dendritic spines, decreased pyramidal neurons in hippocampus
33
Q

Describe early onset of Alzheimer’s disease

A
  • 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
34
Q

Clinical manifestations of down syndrome

A
  • 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
35
Q

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

A
  • recurrent patellar dislocation
  • excessive foot pronation
  • scoliosis
  • slipped capital femoral epiphysis
  • hip dislocation
36
Q

Describe atlantoaxial or occipitocervical instability related to down syndrome

A
  • 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
37
Q

Gait problems associated with down syndrome

A
  • smaller step length
  • knee hyperextension in stance
  • decreased single limb support time
  • decreased push off at terminal stance
38
Q

Delayed acquisition of motor skills associated with down syndrome

A
  • slower postural reactions
  • increased variability in voluntary movement patterns
39
Q

Secondary disorders with advancing age associated with down syndrome

A
  • obesity
  • DM
  • CV disease
  • degenerative OA of spine
  • osteoporosis
  • fractures of vertebral or long bones
40
Q

Medical diagnosis of down syndrome

A
  • prenatal diagnosis can be made during 2nd trimester using triple screen
  • postnatal diagnosis begins with clinical findings
  • genetic studies showing trisomy 21 confirms diagnosis
41
Q

Medical treatment of down syndrome

A
  • 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
42
Q

Prognosis of down syndrome

A
  • 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
43
Q

Precautions in physical therapy for down syndrome

A
  • 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
44
Q

Role of physical therapy and exercise for down syndrome

A
  • 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