Mod 6/7: Development, Pediatric, Oncology, Autoimmune, Genetic Disorders

Question 1

incompatibility of blood types between mother & fetus

Answer 1

Rhesus Disease/Hemolytic Disease of Newborn

Question 2

X-linked disorder affecting blood-clotting mechanism; causes internal bleeding

Answer 2

hemophilia

Question 3

Name 2 types of muscular dystrophy. Which is more severe?

Answer 3

Duchenne’s (more severe) than Becker’s

Question 4

abnormalities of blood’s hemoglobin where RBCs can’t carry oxygen d/t abnormal shape

Answer 4

sickle cell disease

Question 5

LMN disease (autosomal recessive disorder): progressive degeneration of anterior horn of spinal cord and motor neurons which lead to mm atrophy and weakness

Answer 5

spinal muscular atrophy

Question 6

congenital heart disease d/t oxygenated/deoxygenated blood mixing within heart;
w/ possible defects: ventricular septic defect, R ventricular hypertrophy, pulmonary valve stenosis

Answer 6

Tetralogy of Fallot

Question 7

autosomal disorder where gene mutations cause abnormal collagen synthesis

Answer 7

osteogenesis imperfecta/ “brittle bone disease”

Question 8

missing/incomplete limbs at birth d/t blood clots or amniotic band syndrome

Answer 8

congenital abnormalities

Question 9

facial tissues don’t join in development ( a neural tube issue)

Answer 9

cleft palate or cleft lip

Question 10

tilted head b/c abnormal intrauterine position or breech delivery

Answer 10

congenital torticollis

Question 11

X-linked recessive disorder causing progressive proximal mm weakness d/t abnormal dystrophin production

Answer 11

Duchenne muscular dystrophy

Question 12

s/s: Gower sign, gastroc pseudohypertrophy, LE mm atrophy before UE, abnormal ECG

Answer 12

Duchenne muscular dystrophy

Question 13

s/s: fatigue, hypotonia, weakness, skeletal mm wasting, restrictive lung disease

Answer 13

spinal muscular atrophy

Question 14

group of disorders that affect growing skeleton & bone epiphysis b/c abnormal growth or overuse

Answer 14

osteochondroses

Question 15

ischemic necrosis that leads to flattening of femoral head

Answer 15

Legg-Calve-Perthes Disease

Question 16

s/s: persistent thigh/knee pain, decreased ROM, limping, mm atrophy, unequal leg length

Answer 16

Legg-Calve-Perthes Disease

Question 17

excess CSF accumulates & compresses brain tissue and blood vessels

Answer 17

hydrocephalus

Question 18

forms of myelodysplasia: defective development of any part of the spinal cord (neural tube defect)

Answer 18

spina bifida

Question 19

non-fusion of spinous process of vertebrae, but SC & meninges are intact (no neural deficit)

Answer 19

spina bifida occulta

Question 20

______ = 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

Answer 20

spina bifida cystica:
-meningocele
-myelomeningocele

Question 21

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

Answer 21

spina bifida

Question 22

movement disorders d/t acquired brain damage in uterus, birth or infancy (til age 2)

Answer 22

cerebral palsy

Question 23

s/s: (variable) abnormal mm tone, impaired movement modulation, abnormal reflexes, impaired mobility

Answer 23

cerebral palsy

Question 24

cerebral palsy motor patterns (3):
-motor cortex or UMN Lesion
-basal ganglia lesion
-cerebellum involved

Answer 24

-spastic
athetoid
ataxic

Question 25

traction injury during breech delivery, usually to brachial plexus

Answer 25

Erb's Palsy

Question 26

whiplash injury that causes intracranial/intraocular bleeding

Answer 26

shaken baby syndrome

Question 27

insufficient surfactant so lungs collapse during exhalation; cause atelectasis or severe hypoxia)

Answer 27

infant respiratory distress syndrome

Question 28

lateral spinal curvature: can be functional, neuromuscular or degenerative

Answer 28

scoliosis

Question 29

fracture of pars interarticularis (around L5/S1)

Answer 29

spondylolysis

Question 30

anterior slippage of one vertebrae on another

Answer 30

spondylolisthesis

Question 31

autoimmune disease causing chronic inflammation in CT of children's joints (inflamed synovial membrane)

Answer 31

Juvenile Rheumatoid Arthritis

Question 32

bone infection from trauma complication; often staphalococcus aureus cause

Answer 32

osteomyelitis

Question 33

if long bone grows faster than muscles/tendons can keep up, causes avulsion fracture (often upper tibial epiphysis)

Answer 33

Osgood-Schlatters

Question 34

3 types of righting reactions

Answer 34

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)

Question 35

Reactions: stabilize body in response to destabilizing forces applied anywhere to body

Answer 35

Postural Fixation Reaction

Question 36

Reactions: protect body from injuries related to a fall by repositioning extremities

Answer 36

Protective Reaction

Question 37

Reaction: deviations in COG b/c support surface deviates; produces reaction in body/extremities to regain balance & correct COG

Answer 37

Tilting Reactions

Question 38

Name 5 s/s of cancer

Answer 38

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

Question 39

Stage 1 neoplasm

Answer 39

malignancy limited to original tissue (no lymph nodes)

Question 40

Stage 2 neoplasm

Answer 40

malignancy spread to adjacent tissues, but no lymph node involvement yet

Question 41

Stage 3 neoplasm

Answer 41

malignancy spread to adjacent tissues w/ signs of fixation to deeper structures (likely lymph nodes)

Question 42

Stage 4 neoplasm

Answer 42

malignancy metastasize beyond primary site to bone or organ

Question 43

tx using thalidomide to suppress blood supply formation (inhibit malignancy)

Answer 43

antiangiogenic therapy

Question 44

innate protection to resist infection via skin, mucous membranes, bactericidal substances

Answer 44

natural immunity

Question 45

develops in response to exposure to antigens with formation of antibodies

Answer 45

acquired immunity

Question 46

T lymphocytes: maturation site, types of cytotoxic T cells; other type of T cell

Answer 46

in thymus natural killer cells & T suppressor cells helper T cell

Question 47

B lymphocytes: when are IgE and IgG/EgM activated?

Answer 47

IgE: in allergic reactions IgG & IgM: after immunizations

Question 48

hypersensitivity reaction: allergic/anaphylactic response; release histamine

Answer 48

Type I w/ IgE

Question 49

hypersensitivity reaction: cytotoxic hypersensitivity; IgG/IGm react on antigens (autoimmune diseases)

Answer 49

Type II

Question 50

hypersensitivity reaction: immune complex hypersensitvity; type of autoimmune where immune complexes deposited in tissue

Answer 50

Type III

Question 51

hypersensitivity reaction: cell-mediated or delayed response; ex: organ transplant rejection or poison ivy reaction

Answer 51

Type IV

Question 52

2 types of nosocomial infections

Answer 52

health care associated infections (HCAI) hospital acquired infection (HAI)

Question 53

immune complexes deposited in CT throughout body & affect many systems

Answer 53

systemic lupus erythematosus (SLE)

Question 54

s/s: butterfly-shaped rash, joint inflammation, arthritis, fever, weight loss, fatigue, malaise, cardiopulm problems, neuropsych issues, peripheral neuropathy, kidney problems

Answer 54

systemic lupus erythematosus (SLE)

Question 55

inc. collagen synthesis that leads to sclerosis (hard, thick, shrunken CT & skin)

Answer 55

scleroderma

Question 56

s/s: skin/joints appear thick, shiny and tight; Raynaud's phenomenon, wrinkly/pursed mouth, contractures

Answer 56

scleroderma

Question 57

immune system attacks tissue in glands that produce moisture

Answer 57

Sjogren's Syndrome

Question 58

s/s: Dec. tears, saliva, sweat & dry mucous membranes

Answer 58

Sjogren's Syndrome

Question 59

genetic disorder with inheritance from 1 parent (50% chance child inherits)

Answer 59

autosomal dominant

Question 60

genetic disorder where both parents are carriers so child has 25% chance of inheriting & 50% chance of carryign

Answer 60

autosomal recessive

Question 61

genetic disorder where females are carriers, so manifested in males

Answer 61

X-linked recessive

Question 62

development sequence: prone on forearms & creeping

Answer 62

1-3 months

Question 63

development sequence: roll to supine & sit w/ support

Answer 63

3-6 months

Question 64

development sequence: roll to prone, sit unsupported, quadruped

Answer 64

6-9 months

Question 65

development sequence: crawl, pull to stand, cruise

Answer 65

9-12 months

Question 66

development sequence: walk alone & squat while playing

Answer 66

12-18 months

Question 67

s/s: varying intellectual disability, flattened face, hypotonicity, developmental hip dysplasia, atlantoaxial subluxation, congenital heart defect, underdeveloped intestines

Answer 67

Down's Syndrome

Question 68

genetic disorder w/ fragile section of X chromosome, affects males more, on autism spectrum

Answer 68

Fragile X Syndrome

Question 69

genetic disorder w/ presence of extra X chromosome (XXY), affects males only

Answer 69

Klinefelter syndrome

Question 70

genetic disorder w/ total/partial lack of X chromosome; biologically female

Answer 70

Turner Syndrome

Question 71

s/s: inhibited growth, short neck, nonfunctioning ovaries, infertility, organ & aorta abnormalities

Answer 71

Turner syndrome

Question 72

autosomal dominant disorder affecting body's CT (weak collagen, hypermobility, long/thin body)

Answer 72

Marfan Syndrome

Question 73

PT tx for which disease? be aware of stasis ulcers in extremities & of pulmonary problems -avoid overexertion

Answer 73

sickle cell disease

Question 74

PT tx for which disease? prevent pulmonary infections & scoliosis; use bracing, manage contractures, manage equipment

Answer 74

spinal muscular atrophy

Question 75

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

Answer 75

hydrocephalus

Question 76

PT tx for which disease? monitor lab values exercise at 40-65% HR range don't exceed 12 on Borg's RPE

Answer 76

Cancer

Question 77

PT tx for which disease? avoid strenuous activity d/t cardiovascular abnormalities (weak collagen & aorta)

Answer 77

Marfan's Syndrome