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Neuro Rehab 1 > Down Syndrome - Pt 1 > Flashcards

Down Syndrome - Pt 1 Flashcards

1
Q

what is the pathology behind down syndrome

A

extra 21st chromosome
- trisomy 21

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2
Q

what are the 3 mechanisms leading to the extra 21st chromosome seen in down syndrome

A
  1. NON-DISJUNCTION: failure of 21st chromosome to separate (95% of cases)
  2. TRANSLOCATION: long arm of #21 attached to another chromosome
  3. MOSAICISM: some but not all cells have defect
    - ie some cells display the trisomy 21 and some don’t
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3
Q

what was Down the first to describe down syndrome as

A

relative to clinical presentation

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4
Q

what is the significance of someone with down syndrome d/t a mosaicism mechanism

A

these individuals might not present with all the clinical features of down syndrome seen in other mechanisms

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5
Q

what inc the risk of a child being born with down syndrome

A

inc maternal age

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6
Q

why has the survival rate inc from 50% in the 90s to 95% in the 2000s (2)

A

early detection & prenatal dx
- EI and healthcare

greater normalization in society
- better health, higher autonomy, community integration and dec institutionalization

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7
Q

what are prenatal diagnostic methods to screen for down syndrome (4)

A

amniocentesis
chorionic villus sampling (CVS)
ultrasound
percutaneous umbilical cord sampling

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8
Q

how is CVS sampling utilized as a diagnostic method for down syndrome

A

contains lots of rapidly dividing fetal cells
- do a chromosome analysis

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9
Q

when can a CVS sampling be taken

A

early (~8wks)

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10
Q

how is ultrasound utilized as a diagnostic tool

A

look for thickening of nuchal cord

screen for CHD and heart defects
- down syndrome pop has inc risk of CHD

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11
Q

what is another name for percutaneous umbilical cord sampling and what is a consideration of its usage

A

cordocentesis
very risky

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12
Q

what two diagnostic test which dec risk of fetal death

A

amnio
CVS

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13
Q

what is a diagnostic toll used after birth

A

screen for distinctive features
- then do a chromosomal analysis

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14
Q

what is a consideration of the presentation of down syndrome

A

despite everyone having similar features, everyone can have a different unique presentation bc of unique genetic makeup

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15
Q

what role gene therapy play in the medical management of people with down syndrome

A

growing research
- able to correct DS cells in vitro

ethical questions as to whether they should just because we now can

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16
Q

what are the 2 main categories of clinical presentation

A
  • phenotype (observable traits)
  • systems
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17
Q

what are phenotype characteristics of people with down syndrome (5)

A
  1. short neck, excess skin
  2. flattened face and nose
  3. small head, ears, mouth
  4. upward slanting eyes
  5. brushfield spots
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18
Q

why do you see excess skin at the back of pts with down syndrome’s necks

A

thickened nuchal fold

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19
Q

what are brushfield spots

A

white spots on colored part of eye

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20
Q

describe how patients with down syndrome usually present with their eye shape

A

upward slanting
- often skin fold comes out from upper eyelid and covers inner corner of eye

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21
Q

what are general growth/maturation phenotypes

A

small stature
not all segments equally grow/mature

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22
Q

how is growth/maturation assessed in pts with DS

A

specific growth charts for people with DS

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23
Q

what are specific characteristics of the growth and maturation of someone w DS (5)

A
  1. relatively short legs, but not trunk
  2. hands and feet - short/stubby
  3. underdeveloped middle phalanx of 5th finger
  4. crease in middle of palm
  5. deep groove in between 1st and 2nd toe
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24
Q

describe skeletal maturity characteristics of someone w DS

A

slower rate than those w/o DS
- esp in early childhood
- speeds up to be only mildly slower with age

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25
Q

what are 3 likely reasons for an inc incidence of obesity in DS

A

could be genetic
reduced activity (motor ability, motivation)
family

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26
Q

what are systems that can have impairments in DS (8)

A

hearing
leukemia
thyroid
obstructive sleep apnea
cardiac
GI
MSK
CNS

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27
Q

how is hearing impaired in DS

A

high prevalence of ear infections and conductive loss
- inc w aging (significantly more than people w ID and not DS)

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28
Q

recommendations for hearing loss in DS

A

ABR (auditory brainstem response) starting at 6mo

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29
Q

what phenotype can impact hearing

A

shape of face impacts hearing

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30
Q

what thyroid dysfunction is seen in DS

A

underactive (hypothyroidism)

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31
Q

when and how is the obstructive sleep apnea seen in DS managed

A

referral for sleep tests starting at 4yo

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32
Q

what type of congenital heart defects can be seen in DS

A

atrial-septal
ventriculo-septal

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33
Q

how can congenital heart defects in DS manifest if not noted right away

A

early fatigue
poor color

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34
Q

what GI dysfunction are pts w DS most at risk for

A

esophageal or duodenal atresia

35
Q

what 3 GI congenital abnormalities can be seen in DS

A

most common upper esophagus not connected to lower/stomach

esophagus connected to trachea (aka tracheal esophageal

esophageal narrowing

36
Q

what are early signs of a congenital abnormality of the GI system

A

early and massive vomiting d/t blockage

37
Q

what is the treatment for a GI disorder

A

surgery

38
Q

what are 4 common msk dysfunctions seen in DS

A

hypoplasia
ligamentous laxity

C-spine abnormalities
- osseous changes
- atlantoaxial instability
SC compression

39
Q

where is hypoplasia in DS primarily seen and what is it influenced by

A

pelvic and hip dysplasia
- risk of subluxation

influenced by: collagen defect & low tone

40
Q

why is hip dysplasia so common and how can this link to another phenotype

A

not developed enough
- similar to why face is so flat
- hip is similarly flat

41
Q

where and why do we see ligamentous laxity in DS

A

varied locations
d/t collagen defects

42
Q

what are 3 osseous changes can happen at the c-spine in DS

A

atlanto-occipital (changes in joint shape)
C1 hypoplasia
anomolies of C-vertebral bodies

43
Q

why can you see atlanto-axial instability in DS and what is a consideration for this

A

d/t lax transverse ligament
many are asymptomatic if have it

44
Q

what are yellow/red flags depending on the situation (9)

A

neck pain
spasms of neck ms
vertigo
changes in gait
drop attacks
torticollis
weakness
inc tone/clonus
sensory changes (stocking/glove)

45
Q

what happens if the transverse ligament is too lax

A

with flexion the atlantoaxial sublux so odontoid process impinges the SC

46
Q

what is anticipatory guidance to provide to family/coaches ab AAI (2)

A
  1. maintain C-spine in neutral position during any procedure (ie surgical, radiographic, etc.)
  2. myelopathic s/sx education
47
Q

what are 5 s/sx of myelopathy seen in AAI

A
  1. significant neck pain, radicular pain
  2. weakness
  3. spasticity or change in tone, hyperreflexia
  4. gait difficulties
  5. change in bowel or bladder function
48
Q

what is a consideration of imaging for individuals with AAI

A

plain radiographs don’t predict risk of SCI compression well
- refer for MRI

49
Q

what is POC for a child w asymptomatic AAI

A

routine films? no

refer for MRI
- if (+) findings, then monitor

50
Q

POC for symptomatic AAI ?

A

immobilize spine
urgent medical assessment in ED needed
- neurosurg consult/imaging

51
Q

what are sports participation considerations for children with down syndrome

A

contact sports - inc risk for SCI
- ie football, soccer, gymnastics

no trampolines unless >6yo (all children! even TD) and professionally supervised

52
Q

what are 3 sports participation screening questions for children with down syndrome

A
  1. signs of progressive myopathy?
  2. poor head/neck motor control (ie pull-to-sit test)
  3. does neck flexion result in chin resting on chest?
53
Q

what are 5 CNS clinical presentations of down syndrome

A
  1. hypoplastic brain (dec size)
  2. dec # synapses
  3. premature aging in brain
  4. inc comorbidity of Autism
  5. mild to mod ID
54
Q

what 3 brain areas are esp dec in size in down syndrome and what are the impacts of this

A

cerebellum - m. learning/ms tone
frontal lobes - exec function
temporal lobes & hippocampus - episodic memory

55
Q

how are synapses impacted in down syndrome (3)

A

dec synaptic density
dendritic spines
neurogenesis

56
Q

describe the premature aging in the brain seen in down syndrome

A

early onset of Alzheimer’s type dementia (40-60yo)

not clearly understood

57
Q

what is a common comorbidity of down syndrome

A

autism

58
Q

how does intellectual disability present in down syndrome

A

mild to mod ID
pattern different than other ID syndromes
- relatively high social intelligence
- impaired explicit memory

59
Q

when do intellectual disability characteristics present

A

before age 18

60
Q

if someone is over the age of 18 and has a traumatic event resulting in characteristics of intellectual disability, how is this labelled

A

not as an intellectual disability

labelled as post TBI or encephalopathy or whatever caused the onset of sx

61
Q

what are characteristics of an ID

A
  1. significantly below avg IQ score
  2. limitations in ability to function in areas of daily life (ie communication, self-care, social situations, school activities)
  3. present <18yo
62
Q

what is a consideration when evaluating a child with an intellectual disabilitly

A

what were the circumstances the child was raised
- was it an enriching environment

63
Q

what is the diagnostic process for someone with an ID

A

careful IQ and adaptive skill testing
- validity (culture, linguist)
- consider motor, behavior, sensory, communication

64
Q

what are 6 learning issues of ID that have implications for PT

A
  1. capable of learning but… fewer things
  2. benefit from inc repetition to learn
  3. slower response times
  4. poorer ability to generalize skill
  5. poorer ability to maintain skills not practiced
  6. more limited repertoire of responses
65
Q

what are 5 BSF impairments of down syndrome (5)

A
  1. hypotonia (varying degrees)
  2. hypermobile (all joints)
  3. reaction time (slow)
  4. dec strength/postural control early in development (& beyond depending on severity)
  5. dec fitness - unless actively & regularly engaged
66
Q

what determines reaction time

A

RT = (stimulus identification) + (response selection) + (response programming)

67
Q

what does hypotonia and hypermobility impairments contribute to

A

dec proprioception, movement qualities, and voluntary ms control

68
Q

what are 4 activity limitations of down syndrome

A

language
oral motor/feeding
balance
gross motor (delayed)

69
Q

how does the activity limitation of language present in down syndrome

A

varied abilities
- some nonverbal
- some completely verbal w motor delay

70
Q

how does the activity limitation of oral motor/feeding present in down syndrome

A

hypoplasia of oral cavity - mouth is smaller
- tongue protrudes as result

taught how to retract tongue back into cavity to help w feeding, language, and social

71
Q

what are 4 factors which impair the activity limitation of balance in down syndrome

A
  1. delayed central processing
  2. impaired sensory organization for balance
  3. delayed postural control development
  4. ms activation
72
Q

in general what is the cause of issues with balance in down syndrome? what isnt?

A

d/t central issues
not bc of laxity or low tone

73
Q

while delayed, how does gross motor activity limitations present in down syndrome

A

rate is slower, but similar sequence to TD
- rate of skill improvement faster w younger children, slows w age

74
Q

what is the gross motor function measure (GMFM)

A

standardized tool ages 5mo-16yo

measures changes in early gross motor skills and function over time or w intervention in children w CP/down syndrome

75
Q

what was the GMFM originally developed for

A

CP
- valid/reliable for down syndrome

76
Q

what early gross motor skills does the GMFM look at (7)

A

lying and rolling
sitting
crawling and kneeling
standing
walking
running
jumping

77
Q

what are the PT implications of a child at max on GMFM

A

shifting focus to more physical fitness
- dec PT frequency
- encourage HEP to maintain

78
Q

what are PT implications of a child not at predicted GMFM level for age

A

opportunity to reassess

79
Q

what are 4 problems which arise with age

A

thyroid abnormalities
MSK disorders
mental illness / depression
inc rate of falls

80
Q

how do thyroid abnormalities present with agin

A

hypofunction
- at early or later years

81
Q

what MSK disorders present with aging (3)

A

mid-cervical arthritis (high rate)
progressive hip instability (THR)
osteoporosis (high risk, younger age)
- long bone & compression fx of vertebral bodies

82
Q

what are factors for osteoporosis to present with aging (3)

A

lower physical activity levels
early menopause in women
dec strength

83
Q

what is the significance of inc rate of falls with aging

A

inc rate at a younger age in adulthood
- greater risk for injury from those falls

84
Q

what is a consideration when looking at measurements/stats of adults with an ID

A

still not an assessment tool for ID
- have to compare to adults w/o ID

Neuro Rehab 1 (27 decks)

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