Presentations Flashcards
cystic fibrosis stats:
most common genetic disease in USA
12 million carriers in the USA (%5 of population)
1000 babies born w/ CF annually in US
called CF bc of cysts and scarring in affected organs
what is cystic fibrosis?
a disease of the exocrine glands that primarily affects the digestive and respiratory systems
autosomal recessive disease
gene mutation located on CFTR, chromosome 7 causes salt to accumulate in mucosal lining
mucus is thick and sticky, clogging ducts in the lungs, liver and pancreas–> hinders respiration and digestion
clogged ducts are especially vulnerable to inflammation and infection
what are S&S of cystic fibrosis?
persistent, productive cough and wheezing
tachypnea, barrel chest, cyanosis , digital clubbing
recurrent pneumonia
excessive appetite w/ poor weight gain
salty skin
bulky, foul smelling stools
how is cystic fibrosis diagnosed?
sweat test- measures amount of salt
genetic testing done prenatally
immunoreactive trypsinogen test (IRT)- after birth
CF testing at birth is mandatory in RI
what are tests and measures for pts with CF?
auscultation to listen for secretions
exercise stress test to measure lung function
spirometry
what is the prognosis for CF?
pulmonary manifestation leads to pulmonary fibrosis, pulmonary hypertenion, and eventual for pulmonale (R sided heart failure)
lung transplant may be necessary in later stages
average life expectancy=30
what are secondary impairments of CF?
decreased aerobic capacity and endurance
decreased muscle strength
poor weight gain
what are tx goals for pts w/ CF?
prevent and control lung infections
loosen and remove mucus from lungs
prevent/treat blockages in the intestines
provide adequate nutrition
prevent dehydration
what are PT interventions for CF?
chest PT
aerobic exercise
strength training
breathing exercises
energy conservation techniques
pt and family ed on chest PT, management of disease and comorbidities
what is DCD?
developmental coordination disorder
chronic condition w/ marked impairment in the development of motor coordination that affects performance of academic achievement and ADLs
what are commonly delayed tasks associated w/ DCD?
fine motor sequencing
complex coordination
learning new tasks that require integration of sensory input and motor planning
how is DCD diagnosed?
MUST HAVE 3 PRESENT:
1- performance in daily activities that require motor coordination is substantially below that expected, given the person’s chronological age and measured intelligence.
- marked delays in achieving motor milestones
- dropping things
- clumsiness
- poor performance in sports
- poor handwriting
2- the disturbance significantly interferes w/ academic achievement or ADLs
3- the disturbance is not due to a general medical condition and does not meet criteria for a pervasive developmental disorder
*if mental retardation is present, motor difficulties are in excess of those usually associated w/ it
DCD stats:
6-13% of school aged children
higher incidence in males
40% of children continue to have delayed motor development 10 years later
higher than avg in preterm population
what are common comorbidities w/ DCD?
ADHD
specific learning disability
dyslexia
autism spectrum disorders
what is the prognosis for DCD?
INFLUENCED BY:
- severity and co-occurring conditions
- presence of supportive environment
- strengths of the child (coping mechanisms)
PT is important in prognosis
early intervention and interdisciplinary approaches
what is down syndrome?
extra copy of chromosome 21
what are the types of down syndrome?
trisomy 21: 3 copies of chromosome 21 (95% of DS)
translocation: a part or whole extra chromosome 21 is present but is translocated to another chromosome (3% of DS)
mosaic: some chromosomes have 3 copies of chromosomes (2%)
how is DS diagnosed?
during pregnancy:
- screening: blood tests in 1st trimester; ultrasound (excess fluid behind child’s neck)
- diagnostic: chorionic villus sampling; amniocentesis; percutaneous umbilical blood sampling
after birth:
-blood tests of baby’s blood
what are physical features associated w/ DS?
- flattened face/bridge of nose
- almond shaped eyes
- eyes slanting up
- short neck
- small ears
- tongue sticks out to side
- tiny white spots on iris of eye
- small hands/feet
- palmar crease
- small pinky curving toward thumb
- poor muscle tone
- shorter
what are S&S of DS?
COGNITIVE:
- mild-mod IQ/cognitive delays
- slower speech
CVD:
- heart defects
- anemia
- leukemia
ENDOCRINE:
-thyroid disease
GI:
-Hirschsprung disease: intestinal blockage due to no development of nerves to intestinal ms.
HEENT:
- ears: 75% hearing loss; 50-70% ear infection
- eyes: 60% eye disease (cataracts/vision disturbances)
- throat: 50-75% sleep apnea
what is the prognosis of DS?
delays in developmental milestones
avg life expectancy rising: currently 60y/o
-highly dependent on co-morbidities, esp in early life
what are common co-morbidities associated w/ DS?
early life:
- congenital heart defects
- GI anomalies
later life:
- depression
- Alzheimer’s
- osteoporosis
- DJD
- arthritis
what are intervention options for pts w/ DS?
early intervention:
- critical first step in long-range educational program
- higher intellectual and adaptive functional levels
- serves as a motivator for parents
tx should focus on:
- enhancing rate of acquisition of motor skills
- prevention of secondary problems resulting from compensatory strategies to overcome hypotonia and joint instability
- improving participation in life activities
exercise during skeletal growth positively influences BMD during the adult years
well designed and closely supervised aerobic exercise program
significant gains in muscle strength, dynamic balance, isometric peak torque and endurance of the LEs w/ strength training
emphasize dynamic WB
what is juvenile idiopathic arthritis?
all forms of arthritis:
- that start before 16 y/o
- lasts longer than 6 wks
- unknown cause
autoimmune inflammatory disorder that is activated by an external trigger in a genetically predisposed person
what are primary manifestations of JIA?
joint swelling, pain, stiffness
morning stiffness
muscle atrophy
acute or chronic aridiocyclitis
systemic manifestations
gait deviations
what are secondary manifestations of JIA?
limited joint motion
soft tissue contracture
fatigue
reduced exercise/activity tolerance
growth abnormalities
osteopenia/osteoporosis
difficulties w/ ADLs
what are developmental implications of JIA?
lack of involvement in routine exercise and play may hinder gross motor and social development
impact on early motor development
need help with ADLs
decreased independence in school
social isolation
what is medical management for JIA?
goals of tx are suppression of inflammation, pain relief and prevention of long term deformities
for mild sx- NSAIDS
disease modifying antirhematic drugs
started early in disease process for best outcomes
intra-articular corticosteroid injections
what are implications for PT for JIA?
be aware of surgical precautions
early rehab to prevent worsening of sx
promote good posture
splinting, bracing, ADs
protection of joints
ADL training
encourage healthy lifestyle
education and HEP
encourage WB activities
can incorporate aquatic exercise
balance conditioning program- flexibility, strengthening, aerobic
exercise is contraindicated during acute stage (except isometrics), hot packs, diathermy, ultrasound are contraindications
what is duchenne muscular dystrophy?
progressive muscle wasting disease
results from a defective gene responsible for producing an important muscle protein called DYSTROPHIN
without dystrophin, cells are easily damaged and die, resulting in heart and respiratory failure
what are S&S of DMD?
fatigue learning difficulties possible intellectual disability muscle weakness progressive difficulty walking muscle contracturs muscle wasting muscle deformities respiratory disorders poor swallowing
abnormal heart muscle (cardiomyopathy)
CHF or arrhythmias
scoliosis
what is the prevalence of DMD?
1/3500 live male births
females generally don’t exhibit symptoms even if they are a carrier
what is the medical tx for DMD?
no known tx halts progression
intervention includes:
- maintain function in unaffected ms
- glucocorticoid therapy (prednisone)
what is gower’s sign?
proximal ms. weakness in pts w/ DMD
hands are used to assist lifting the trunk
what are developmental implications of DMD?
difficulty getting up off the floor and climbing stairs
falls frequently
walks w/ waddling gait
increased lordosis
toe walking
trendelenberg sign
scapular winging and shoulder girdle weakness
scoliosis
typically not able to walk by age 10-12
what are common co-morbidities for DMD?
average IQ 1SD below avg
progressive restrictive respiratory impairment
irregularities of heart, diaphragm, kidneys, GI
what are primary and secondary impairments of DMD?
PRIMARY: ms. wasting
SECONDARY: impaired strength, ROM, mobility, posture, skin integrity, respiration, speech
what is the prognosis for a pt w/ DMD?
life expectancy ~30
PT acts as a form of palliative care
Implications for PT for DMD?
- home/adaptive equipment:
- education
- power w/c
- splinting
Manual therapy:
- ROM to delay contractures
- pool therapy
- early WB activities
- later NWB
Precautions:
- avoid resisted exercise regimes
- avoid excessive aerobic activity
- monitor heart/lung conditions
what are functional implications of DMD?
constant reductions in physical ability from diminishing muscle function
decreasing heart and lung function
exhaustion and fatigue– insufficient relief of local vasoconstriction in active muscles (oxidative stress)
what is osteogenesis imperfecta?
“brittle bone disease”
autosomal dominant inheritance
genes that code for type I collagen are mutated
bone modeling is defective resulting in small cross-sectional area of bone and thinner cortex= diminished bone strength
cancellous bone volume doesn’t increase with age, as it would normally
contributing factors:
- unique structure of mutated collagen
- absence of other CT proteins essential for modeling of tissues
- % of collagen incorporated into the strutter of the tissue
incidence= 1/20,000
what is the medical tx for OI?
no cure, can be managed
fracture care
surgical procedures
meds
stem cell therapy/bone transplant
other specialists
what are developmental implications for pts w/ OI?
children w/ OI develop differently overall
impacts on development depend on what type of OI
gross motor development can be delayed
doesn’t affect cognitive abilities to think or learn
what are functional implications for pts w/ OI?
shortened stature
decreased participation in normal physical activities
decreased endurance
mobility can be delayed until 5-6 years; scooters are an option
what are PT implications for OI?
don’t focus on type, focus on individual’s abilities and limitations
maximize independence
promote bone and muscle strength
aquatic therapy
positioning/handling
what is the prognosis for pts w/ OI?
depends on type/severity of sx
early intervention from onset
damage during birth can lead to worse prognosis
life expectancies vary
what is spina bifida?
“cleft spine”
neural tube defect characterized by incomplete formation of the brain, SC and/or meninges in utero
rupture of the neural tube after it closes bc CSF is too high
can be identified by the 8th week of gestation
defect is complete by the 12th week
what are the types of spina bifida?
Occulta: incomplete fusion of the vertebral arch- failure of arch to close and the neural crest to elevate
Meningocele: external protrusion of the meninges- abnormal overgrowth making the closure of the neural tube fail
myelomeningocele: meninges and SC/spinal nerves
what are functional limitations of Spina bifida?
developmental milestones mobility bladder/bowel cognitive impairments participation in school and sports
1/3 develop profound mental impairment
regardless of intelligence:
-impaired perceptual organizational abilities, attention, motor response, flexibility, problem solving, and abstract thinking
what is the prognosis for a pt. with spina bifida?
recent surgical interventions have greatly improved the prognosis for children w/ spina bifida
varies w/ degree of neurological impairment/level of injury
85% survive to adulthood
what are PT interventions for children w/ spina bifida?
standing programs and aggressive PT after surgeries to prevent fx
strengthening of hip flexors/ext and ankle dorsiflexors for gait
stretching and strengthening tx for spinal deformity
weight management
sensation training and ed
orthotic and AD training
casting
integumentary inspection
what are precautions for PT for spina bifida?
look for signs of fx esp after surgery (redness, low grade fever)
monitor integumentary system
high risk of latex allergy
monitor for signs of increased intracranial press ion
what is spinal muscular atrophy?
SMA: group of inherited disorders that affect motor neurons of SC and BS
mutation in gene, causing loss of specific protein production- survival motor neuron protein
slow degeneration and death of motor neurons
what is the prevalence of SMA?
males>females
1/40-1/80 adults are carriers
1/6,000-20,000 births
what are the 4 types of SMA?
diagnosed by age of onset
I: wernig-hoffman disease 0-6 months- most severe
II: chronic infantile: 6-18 mo- most common
III: Kugelberg-Welander syndrome: >18 mo
IV: adult onset: 2nd/3rd decade
what are S&S of SMA?
muscle atrophy leading to weakness
Type I: breathing, sucking, swallowing problems
- hallmark sign: unable to sit upright independently
- lack of head control
Type II: can sit independently when placed in sitting
- potential resp problems
- unable to ambulate independently- hallmark sign
Type III & IV: can ambulate much of life
what are primary and secondary impairments of SMA?
PRIMARY:
-muscle atrophy/weakness
SECONDARY
- postural deviations: scoliosis
- respiration: infections
- decreased balance
- decreased ROM- contractures
what is the prognosis for SMA?
no cure
age of onset is primary prognosticator
- Type I: rarely live 2 years
- Type III: can have normal life expectancy
resp problems are #1 cause of death
what is the medical management for SMA?
symptomatic and preventative management
- pulmonary/resp therapy
- feeding
- orthopedic
scoliosis
-spinal fusion
PT
- positions
- stretching
- strengthening
- ambulation
- bracing
PT interventions for SMA?
head/trunk control
functional strengthening
maintenance of ROM
sitting/standing balance
gait training
max independence in mobility
chest PT
promote WB activities
Precautions:
- prone/supine positioning
- aspiration
what is a TBI?
leading cause of death and disability in children and adults from ages 1-44
a form of an acquired brain injury that occurs when a sudden trauma causes damage to the brain
what are sx of TBI?
vary b/w mild, mod, severe
headache confusion lightheaded dizzy blurred vision tired eyes ringing in ears bad taste fatigue changes in sleep behavioral/mood changes memory/ concentration changes
