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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
what are 3 likely reasons for an inc incidence of obesity in DS
could be genetic reduced activity (motor ability, motivation) family
26
what are systems that can have impairments in DS (8)
hearing leukemia thyroid obstructive sleep apnea cardiac GI MSK CNS
27
how is hearing impaired in DS
high prevalence of ear infections and conductive loss - inc w aging (significantly more than people w ID and not DS)
28
recommendations for hearing loss in DS
ABR (auditory brainstem response) starting at 6mo
29
what phenotype can impact hearing
shape of face impacts hearing
30
what thyroid dysfunction is seen in DS
underactive (hypothyroidism)
31
when and how is the obstructive sleep apnea seen in DS managed
referral for sleep tests starting at 4yo
32
what type of congenital heart defects can be seen in DS
atrial-septal ventriculo-septal
33
how can congenital heart defects in DS manifest if not noted right away
early fatigue poor color
34
what GI dysfunction are pts w DS most at risk for
esophageal or duodenal atresia
35
what 3 GI congenital abnormalities can be seen in DS
**most common** upper esophagus not connected to lower/stomach esophagus connected to trachea (aka tracheal esophageal esophageal narrowing
36
what are early signs of a congenital abnormality of the GI system
early and massive vomiting d/t blockage
37
what is the treatment for a GI disorder
surgery
38
what are 4 common msk dysfunctions seen in DS
hypoplasia ligamentous laxity C-spine abnormalities - osseous changes - atlantoaxial instability SC compression
39
where is hypoplasia in DS primarily seen and what is it influenced by
pelvic and hip dysplasia - risk of subluxation influenced by: collagen defect & low tone
40
why is hip dysplasia so common and how can this link to another phenotype
not developed enough - similar to why face is so flat - hip is similarly flat
41
where and why do we see ligamentous laxity in DS
varied locations d/t collagen defects
42
what are 3 osseous changes can happen at the c-spine in DS
atlanto-occipital (changes in joint shape) C1 hypoplasia anomolies of C-vertebral bodies
43
why can you see atlanto-axial instability in DS and what is a consideration for this
d/t lax transverse ligament many are asymptomatic if have it
44
what are yellow/red flags depending on the situation (9)
neck pain spasms of neck ms vertigo changes in gait drop attacks torticollis weakness inc tone/clonus sensory changes (stocking/glove)
45
what happens if the transverse ligament is too lax
with flexion the atlantoaxial sublux so odontoid process impinges the SC
46
what is anticipatory guidance to provide to family/coaches ab AAI (2)
1. maintain C-spine in neutral position during any procedure (ie surgical, radiographic, etc.) 2. myelopathic s/sx education
47
what are 5 s/sx of myelopathy seen in AAI
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
what is a consideration of imaging for individuals with AAI
plain radiographs don't predict risk of SCI compression well - refer for MRI
49
what is POC for a child w asymptomatic AAI
routine films? no refer for MRI - if (+) findings, then monitor
50
POC for symptomatic AAI ?
immobilize spine urgent medical assessment in ED needed - neurosurg consult/imaging
51
what are sports participation considerations for children with down syndrome
contact sports - inc risk for SCI - ie football, soccer, gymnastics no trampolines unless >6yo (all children! even TD) and professionally supervised
52
what are 3 sports participation screening questions for children with down syndrome
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
what are 5 CNS clinical presentations of down syndrome
1. hypoplastic brain (dec size) 2. dec # synapses 3. premature aging in brain 4. inc comorbidity of Autism 5. mild to mod ID
54
what 3 brain areas are esp dec in size in down syndrome and what are the impacts of this
cerebellum - m. learning/ms tone frontal lobes - exec function temporal lobes & hippocampus - episodic memory
55
how are synapses impacted in down syndrome (3)
dec synaptic density dendritic spines neurogenesis
56
describe the premature aging in the brain seen in down syndrome
early onset of Alzheimer's type dementia (40-60yo) not clearly understood
57
what is a common comorbidity of down syndrome
autism
58
how does intellectual disability present in down syndrome
mild to mod ID pattern different than other ID syndromes - relatively high social intelligence - impaired explicit memory
59
when do intellectual disability characteristics present
before age 18
60
if someone is over the age of 18 and has a traumatic event resulting in characteristics of intellectual disability, how is this labelled
not as an intellectual disability labelled as post TBI or encephalopathy or whatever caused the onset of sx
61
what are characteristics of an ID
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
what is a consideration when evaluating a child with an intellectual disabilitly
what were the circumstances the child was raised - was it an enriching environment
63
what is the diagnostic process for someone with an ID
careful IQ and adaptive skill testing - validity (culture, linguist) - consider motor, behavior, sensory, communication
64
what are 6 learning issues of ID that have implications for PT
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
what are 5 BSF impairments of down syndrome (5)
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
what determines reaction time
RT = (stimulus identification) + (response selection) + (response programming)
67
what does hypotonia and hypermobility impairments contribute to
dec proprioception, movement qualities, and voluntary ms control
68
what are 4 activity limitations of down syndrome
language oral motor/feeding balance gross motor (delayed)
69
how does the activity limitation of language present in down syndrome
varied abilities - some nonverbal - some completely verbal w motor delay
70
how does the activity limitation of oral motor/feeding present in down syndrome
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
what are 4 factors which impair the activity limitation of balance in down syndrome
1. delayed central processing 2. impaired sensory organization for balance 3. delayed postural control development 4. ms activation
72
in general what is the cause of issues with balance in down syndrome? what isnt?
d/t central issues not bc of laxity or low tone
73
while delayed, how does gross motor activity limitations present in down syndrome
rate is slower, but similar sequence to TD - rate of skill improvement faster w younger children, slows w age
74
what is the gross motor function measure (GMFM)
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
what was the GMFM originally developed for
CP - valid/reliable for down syndrome
76
what early gross motor skills does the GMFM look at (7)
lying and rolling sitting crawling and kneeling standing walking running jumping
77
what are the PT implications of a child at max on GMFM
shifting focus to more physical fitness - dec PT frequency - encourage HEP to maintain
78
what are PT implications of a child not at predicted GMFM level for age
opportunity to reassess
79
what are 4 problems which arise with age
thyroid abnormalities MSK disorders mental illness / depression inc rate of falls
80
how do thyroid abnormalities present with agin
hypofunction - at early or later years
81
what MSK disorders present with aging (3)
mid-cervical arthritis (high rate) progressive hip instability (THR) osteoporosis (high risk, younger age) - long bone & compression fx of vertebral bodies
82
what are factors for osteoporosis to present with aging (3)
lower physical activity levels early menopause in women dec strength
83
what is the significance of inc rate of falls with aging
inc rate at a younger age in adulthood - greater risk for injury from those falls
84
what is a consideration when looking at measurements/stats of adults with an ID
still not an assessment tool for ID - have to compare to adults w/o ID

Neuro Rehab 1 (27 decks)

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