Mod 6/7: Development, Pediatric, Oncology, Autoimmune, Genetic Disorders Flashcards
incompatibility of blood types between mother & fetus
Rhesus Disease/Hemolytic Disease of Newborn
X-linked disorder affecting blood-clotting mechanism; causes internal bleeding
hemophilia
Name 2 types of muscular dystrophy. Which is more severe?
Duchenne’s (more severe) than Becker’s
abnormalities of blood’s hemoglobin where RBCs can’t carry oxygen d/t abnormal shape
sickle cell disease
LMN disease (autosomal recessive disorder): progressive degeneration of anterior horn of spinal cord and motor neurons which lead to mm atrophy and weakness
spinal muscular atrophy
congenital heart disease d/t oxygenated/deoxygenated blood mixing within heart;
w/ possible defects: ventricular septic defect, R ventricular hypertrophy, pulmonary valve stenosis
Tetralogy of Fallot
autosomal disorder where gene mutations cause abnormal collagen synthesis
osteogenesis imperfecta/ “brittle bone disease”
missing/incomplete limbs at birth d/t blood clots or amniotic band syndrome
congenital abnormalities
facial tissues don’t join in development ( a neural tube issue)
cleft palate or cleft lip
tilted head b/c abnormal intrauterine position or breech delivery
congenital torticollis
X-linked recessive disorder causing progressive proximal mm weakness d/t abnormal dystrophin production
Duchenne muscular dystrophy
s/s: Gower sign, gastroc pseudohypertrophy, LE mm atrophy before UE, abnormal ECG
Duchenne muscular dystrophy
s/s: fatigue, hypotonia, weakness, skeletal mm wasting, restrictive lung disease
spinal muscular atrophy
group of disorders that affect growing skeleton & bone epiphysis b/c abnormal growth or overuse
osteochondroses
ischemic necrosis that leads to flattening of femoral head
Legg-Calve-Perthes Disease
s/s: persistent thigh/knee pain, decreased ROM, limping, mm atrophy, unequal leg length
Legg-Calve-Perthes Disease
excess CSF accumulates & compresses brain tissue and blood vessels
hydrocephalus
forms of myelodysplasia: defective development of any part of the spinal cord (neural tube defect)
spina bifida
non-fusion of spinous process of vertebrae, but SC & meninges are intact (no neural deficit)
spina bifida occulta
______ = cyst-like protrusion through non-fused vertebrae:
_____: herniation of meninges & CSF into sac that protrudes through vertebral defect
_____: herniation of meninges, CSF & SC extending through defect in vertebrae
spina bifida cystica:
-meningocele
-myelomeningocele
s/s: motor loss below level of defect, sensory deficits, hydrocephalus, Arnold-Chiari malformation, osteoporosis, clubfoot, scoliosis, tethered cord syndrome, bowel/bladder dysfunction, learning disabilities
spina bifida
movement disorders d/t acquired brain damage in uterus, birth or infancy (til age 2)
cerebral palsy
s/s: (variable) abnormal mm tone, impaired movement modulation, abnormal reflexes, impaired mobility
cerebral palsy
cerebral palsy motor patterns (3):
-motor cortex or UMN Lesion
-basal ganglia lesion
-cerebellum involved
-spastic
athetoid
ataxic
traction injury during breech delivery, usually to brachial plexus
Erb’s Palsy
whiplash injury that causes intracranial/intraocular bleeding
shaken baby syndrome
insufficient surfactant so lungs collapse during exhalation; cause atelectasis or severe hypoxia)
infant respiratory distress syndrome
lateral spinal curvature: can be functional, neuromuscular or degenerative
scoliosis
fracture of pars interarticularis (around L5/S1)
spondylolysis
anterior slippage of one vertebrae on another
spondylolisthesis
autoimmune disease causing chronic inflammation in CT of children’s joints (inflamed synovial membrane)
Juvenile Rheumatoid Arthritis
bone infection from trauma complication; often staphalococcus aureus cause
osteomyelitis
if long bone grows faster than muscles/tendons can keep up, causes avulsion fracture (often upper tibial epiphysis)
Osgood-Schlatters
3 types of righting reactions
body on head reaction: via tactile cues & proprioception
neck on body reaction: head moves, body follows
body on body reaction: flex/rotate LE & trunk (prone to supine)
Reactions: stabilize body in response to destabilizing forces applied anywhere to body
Postural Fixation Reaction
Reactions: protect body from injuries related to a fall by repositioning extremities
Protective Reaction
Reaction: deviations in COG b/c support surface deviates; produces reaction in body/extremities to regain balance & correct COG
Tilting Reactions
Name 5 s/s of cancer
unexplained weight loss
fatigue
anorexia
anemia
unusual bleeding/discharge
thickening/lump
obvious change in wart/mole
nagging cough/hoarse
sore that won’t heal
change in bowel/bladder
Stage 1 neoplasm
malignancy limited to original tissue (no lymph nodes)
Stage 2 neoplasm
malignancy spread to adjacent tissues, but no lymph node involvement yet
Stage 3 neoplasm
malignancy spread to adjacent tissues w/ signs of fixation to deeper structures (likely lymph nodes)
Stage 4 neoplasm
malignancy metastasize beyond primary site to bone or organ
tx using thalidomide to suppress blood supply formation (inhibit malignancy)
antiangiogenic therapy
innate protection to resist infection via skin, mucous membranes, bactericidal substances
natural immunity
develops in response to exposure to antigens with formation of antibodies
acquired immunity
T lymphocytes: maturation site, types of cytotoxic T cells; other type of T cell
in thymus
natural killer cells & T suppressor cells
helper T cell
B lymphocytes: when are IgE and IgG/EgM activated?
IgE: in allergic reactions
IgG & IgM: after immunizations
hypersensitivity reaction: allergic/anaphylactic response; release histamine
Type I w/ IgE
hypersensitivity reaction: cytotoxic hypersensitivity; IgG/IGm react on antigens (autoimmune diseases)
Type II
hypersensitivity reaction: immune complex hypersensitvity; type of autoimmune where immune complexes deposited in tissue
Type III
hypersensitivity reaction: cell-mediated or delayed response; ex: organ transplant rejection or poison ivy reaction
Type IV
2 types of nosocomial infections
health care associated infections (HCAI)
hospital acquired infection (HAI)
immune complexes deposited in CT throughout body & affect many systems
systemic lupus erythematosus (SLE)
s/s: butterfly-shaped rash, joint inflammation, arthritis, fever, weight loss, fatigue, malaise, cardiopulm problems, neuropsych issues, peripheral neuropathy, kidney problems
systemic lupus erythematosus (SLE)
inc. collagen synthesis that leads to sclerosis (hard, thick, shrunken CT & skin)
scleroderma
s/s: skin/joints appear thick, shiny and tight; Raynaud’s phenomenon, wrinkly/pursed mouth, contractures
scleroderma
immune system attacks tissue in glands that produce moisture
Sjogren’s Syndrome
s/s: Dec. tears, saliva, sweat & dry mucous membranes
Sjogren’s Syndrome
genetic disorder with inheritance from 1 parent (50% chance child inherits)
autosomal dominant
genetic disorder where both parents are carriers so child has 25% chance of inheriting & 50% chance of carryign
autosomal recessive
genetic disorder where females are carriers, so manifested in males
X-linked recessive
development sequence: prone on forearms & creeping
1-3 months
development sequence: roll to supine & sit w/ support
3-6 months
development sequence: roll to prone, sit unsupported, quadruped
6-9 months
development sequence: crawl, pull to stand, cruise
9-12 months
development sequence: walk alone & squat while playing
12-18 months
s/s: varying intellectual disability, flattened face, hypotonicity, developmental hip dysplasia, atlantoaxial subluxation, congenital heart defect, underdeveloped intestines
Down’s Syndrome
genetic disorder w/ fragile section of X chromosome, affects males more, on autism spectrum
Fragile X Syndrome
genetic disorder w/ presence of extra X chromosome (XXY), affects males only
Klinefelter syndrome
genetic disorder w/ total/partial lack of X chromosome; biologically female
Turner Syndrome
s/s: inhibited growth, short neck, nonfunctioning ovaries, infertility, organ & aorta abnormalities
Turner syndrome
autosomal dominant disorder affecting body’s CT (weak collagen, hypermobility, long/thin body)
Marfan Syndrome
PT tx for which disease?
be aware of stasis ulcers in extremities & of pulmonary problems
-avoid overexertion
sickle cell disease
PT tx for which disease?
prevent pulmonary infections & scoliosis; use bracing, manage contractures, manage equipment
spinal muscular atrophy
PT tx for which disease?
be aware of shunt location (superficial under skin on side of head)
watch for signs of inc. head size/infection
hydrocephalus
PT tx for which disease?
monitor lab values
exercise at 40-65% HR range
don’t exceed 12 on Borg’s RPE
Cancer
PT tx for which disease?
avoid strenuous activity d/t cardiovascular abnormalities (weak collagen & aorta)
Marfan’s Syndrome
