down syndrome Flashcards

1
Q

in down syndrome how many copies are the 21st chromosome

A

3 copies

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2
Q

why is down syndrome called trisonomy 21

A

becuase there are 3 copies of the chromosome 21

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3
Q

what pediatric disorder is the most common cause of mental retardation

A

down syndrome

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4
Q

what are some risk factors for down syndrome

A

drug use
x-ray
hormone problems

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5
Q

what are the prediagnostic methods in pregnancy i.e how they diagnose down synd when youre still preg

A

triple and quadruple screening test
amniocentesis,, a needle biopsy from the amniotic fluid
cvs,,

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6
Q

what is the most accurate prediognostic method

A

cvs and amniocentesis

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7
Q

what are the types of down syndrome

A

trisonomy 21
translocation and mosaic down syndrome

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8
Q

what happens in the translocation type of down syndrome

A

there is an extra 21st chromosome attached to another chromosome

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9
Q

what happens in mosaic

A

there are some chromosomes with a total of 47 while some are 46 but the one with 47 has an extra pair of 21st chromosome

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10
Q

factors affecting gross motor development

A

hypotonia
ligament laxity
decrease in muscle strength
short arms and legs

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11
Q

in which pediatrci disorder is the simian line seen

A

down syndrome

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12
Q

some orthopedic disorders

A

kyphosis
posterior pelvic tilt
genu recurvatum
hip dislocation

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13
Q

at what age do children with down syndrome acheive motor development stage

A

ambulated at 24 months

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14
Q

what are some medical problems that can be seen

A

leukemia
dental problem
cognitive
hearing
respiratory

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15
Q

what do we evaluate in down syndrome

A

posture
compensation
stability
strength

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16
Q

what is the aim of the bms for DS

A

to score specific motor behaviours
shows developmental period btw 0-36 mnths
measures and scores specific movement disorders
valid and reliable measurement method

17
Q

what is seen in the motor development disorders

A

dec musc tone
insuff co contractions
jont hypermob
dec proprio

18
Q

aim of pt in DS

A

incre tone
incre msc strength
reduce -ve effect of hypotonia
to prevent spinal and other joint disordera

19
Q

What are the main principles of the pt

A

facilitation
stimulation
communication
inhibition

20
Q

why is the supine position okay for the baby

A

corrects abduction of the arm
stabilize the trunk
corrects leg hyperabduction
easy for arms and leg to work against gravity

21
Q

why is side position good also

A

provides active momement of upper arm and leg
stabilize underlying body parts
prepares baby for rotation

22
Q

activities to support motor development steps

A

head control
crawling
standing on knee
standing and walking

23
Q

pt aims for children between the age of 0-2

A

increase the joint stability
reduce negative balance
provide child with good posture haibts
take precautions against posture disorders

24
Q

pt aims for children over two years

A

incr speed and endurance
incr balance and endurance
prep for sports

25
what is the primary problem in the oral motor
hypotonia and protusion
26
oral therapy for the down syndrome patients
early introduction to solid food exercises for tounge movemnt adjust food consistency
27
kinesiology taping is especially applied for what
khyposis planovalgus