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Presentations Flashcards

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
Q

what are primary manifestations of JIA?

A

joint swelling, pain, stiffness

morning stiffness

muscle atrophy

acute or chronic aridiocyclitis

systemic manifestations

gait deviations

26
Q

what are secondary manifestations of JIA?

A

limited joint motion

soft tissue contracture

fatigue

reduced exercise/activity tolerance

growth abnormalities

osteopenia/osteoporosis

difficulties w/ ADLs

27
Q

what are developmental implications of JIA?

A

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
Q

what is medical management for JIA?

A

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
Q

what are implications for PT for JIA?

A

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
Q

what is duchenne muscular dystrophy?

A

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
Q

what are S&S of DMD?

A 
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
Q

what is the prevalence of DMD?

A

1/3500 live male births

females generally don’t exhibit symptoms even if they are a carrier

33
Q

what is the medical tx for DMD?

A

no known tx halts progression

intervention includes:

  • maintain function in unaffected ms
  • glucocorticoid therapy (prednisone)
34
Q

what is gower’s sign?

A

proximal ms. weakness in pts w/ DMD

hands are used to assist lifting the trunk

35
Q

what are developmental implications of DMD?

A

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
Q

what are common co-morbidities for DMD?

A

average IQ 1SD below avg

progressive restrictive respiratory impairment

irregularities of heart, diaphragm, kidneys, GI

37
Q

what are primary and secondary impairments of DMD?

A

PRIMARY: ms. wasting

SECONDARY: impaired strength, ROM, mobility, posture, skin integrity, respiration, speech

38
Q

what is the prognosis for a pt w/ DMD?

A

life expectancy ~30

PT acts as a form of palliative care

39
Q

Implications for PT for DMD?

A
  • 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
Q

what are functional implications of DMD?

A

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
Q

what is osteogenesis imperfecta?

A

“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
Q

what is the medical tx for OI?

A

no cure, can be managed

fracture care

surgical procedures

meds

stem cell therapy/bone transplant

other specialists

43
Q

what are developmental implications for pts w/ OI?

A

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
Q

what are functional implications for pts w/ OI?

A

shortened stature

decreased participation in normal physical activities

decreased endurance

mobility can be delayed until 5-6 years; scooters are an option

45
Q

what are PT implications for OI?

A

don’t focus on type, focus on individual’s abilities and limitations

maximize independence

promote bone and muscle strength

aquatic therapy

positioning/handling

46
Q

what is the prognosis for pts w/ OI?

A

depends on type/severity of sx

early intervention from onset

damage during birth can lead to worse prognosis

life expectancies vary

47
Q

what is spina bifida?

A

“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
Q

what are the types of spina bifida?

A

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
Q

what are functional limitations of Spina bifida?

A 
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
Q

what is the prognosis for a pt. with spina bifida?

A

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
Q

what are PT interventions for children w/ spina bifida?

A

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
Q

what are precautions for PT for spina bifida?

A

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
Q

what is spinal muscular atrophy?

A

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
Q

what is the prevalence of SMA?

A

males>females

1/40-1/80 adults are carriers

1/6,000-20,000 births

55
Q

what are the 4 types of SMA?

A

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
Q

what are S&S of SMA?

A

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
Q

what are primary and secondary impairments of SMA?

A

PRIMARY:
-muscle atrophy/weakness

SECONDARY

  • postural deviations: scoliosis
  • respiration: infections
  • decreased balance
  • decreased ROM- contractures
58
Q

what is the prognosis for SMA?

A

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
Q

what is the medical management for SMA?

A

symptomatic and preventative management

  • pulmonary/resp therapy
  • feeding
  • orthopedic

scoliosis
-spinal fusion

PT

  • positions
  • stretching
  • strengthening
  • ambulation
  • bracing
60
Q

PT interventions for SMA?

A

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
Q

what is a TBI?

A

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
Q

what are sx of TBI?

A

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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