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1
Q

cystic fibrosis stats:

A

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

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2
Q

what is cystic fibrosis?

A

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

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3
Q

what are S&S of cystic fibrosis?

A

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

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4
Q

how is cystic fibrosis diagnosed?

A

sweat test- measures amount of salt

genetic testing done prenatally

immunoreactive trypsinogen test (IRT)- after birth

CF testing at birth is mandatory in RI

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5
Q

what are tests and measures for pts with CF?

A

auscultation to listen for secretions

exercise stress test to measure lung function

spirometry

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6
Q

what is the prognosis for CF?

A

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

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7
Q

what are secondary impairments of CF?

A

decreased aerobic capacity and endurance

decreased muscle strength

poor weight gain

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8
Q

what are tx goals for pts w/ CF?

A

prevent and control lung infections

loosen and remove mucus from lungs

prevent/treat blockages in the intestines

provide adequate nutrition

prevent dehydration

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9
Q

what are PT interventions for CF?

A

chest PT

aerobic exercise

strength training

breathing exercises

energy conservation techniques

pt and family ed on chest PT, management of disease and comorbidities

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10
Q

what is DCD?

A

developmental coordination disorder

chronic condition w/ marked impairment in the development of motor coordination that affects performance of academic achievement and ADLs

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11
Q

what are commonly delayed tasks associated w/ DCD?

A

fine motor sequencing

complex coordination

learning new tasks that require integration of sensory input and motor planning

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12
Q

how is DCD diagnosed?

A

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

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13
Q

DCD stats:

A

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

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14
Q

what are common comorbidities w/ DCD?

A

ADHD

specific learning disability

dyslexia

autism spectrum disorders

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15
Q

what is the prognosis for DCD?

A

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

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16
Q

what is down syndrome?

A

extra copy of chromosome 21

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17
Q

what are the types of down syndrome?

A

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%)

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18
Q

how is DS diagnosed?

A

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

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19
Q

what are physical features associated w/ DS?

A
  • 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
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20
Q

what are S&S of DS?

A

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
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21
Q

what is the prognosis of DS?

A

delays in developmental milestones

avg life expectancy rising: currently 60y/o
-highly dependent on co-morbidities, esp in early life

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22
Q

what are common co-morbidities associated w/ DS?

A

early life:

  • congenital heart defects
  • GI anomalies

later life:

  • depression
  • Alzheimer’s
  • osteoporosis
  • DJD
  • arthritis
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23
Q

what are intervention options for pts w/ DS?

A

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

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24
Q

what is juvenile idiopathic arthritis?

A

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

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25
what are primary manifestations of JIA?
joint swelling, pain, stiffness morning stiffness muscle atrophy acute or chronic aridiocyclitis systemic manifestations gait deviations
26
what are secondary manifestations of JIA?
limited joint motion soft tissue contracture fatigue reduced exercise/activity tolerance growth abnormalities osteopenia/osteoporosis difficulties w/ ADLs
27
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
28
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
29
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
30
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
31
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
32
what is the prevalence of DMD?
1/3500 live male births females generally don't exhibit symptoms even if they are a carrier
33
what is the medical tx for DMD?
no known tx halts progression intervention includes: - maintain function in unaffected ms - glucocorticoid therapy (prednisone)
34
what is gower's sign?
proximal ms. weakness in pts w/ DMD hands are used to assist lifting the trunk
35
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
36
what are common co-morbidities for DMD?
average IQ 1SD below avg progressive restrictive respiratory impairment irregularities of heart, diaphragm, kidneys, GI
37
what are primary and secondary impairments of DMD?
PRIMARY: ms. wasting SECONDARY: impaired strength, ROM, mobility, posture, skin integrity, respiration, speech
38
what is the prognosis for a pt w/ DMD?
life expectancy ~30 PT acts as a form of palliative care
39
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
40
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)
41
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
42
what is the medical tx for OI?
no cure, can be managed fracture care surgical procedures meds stem cell therapy/bone transplant other specialists
43
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
44
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
45
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
46
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
47
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
48
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
49
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
50
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
51
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
52
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
53
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
54
what is the prevalence of SMA?
males>females 1/40-1/80 adults are carriers 1/6,000-20,000 births
55
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
56
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
57
what are primary and secondary impairments of SMA?
PRIMARY: -muscle atrophy/weakness SECONDARY - postural deviations: scoliosis - respiration: infections - decreased balance - decreased ROM- contractures
58
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
59
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
60
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
61
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
62
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 ```

Pediatrics (11 decks)

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