Down Syndrome Flashcards

1
Q

What is down syndrome also known as?

A

Trisomy 21

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2
Q

What is down syndrome?

A

A chromosomal disorder resulting in 47 chromosomes instead of 46

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3
Q

What can increase the risk of having a child with down syndrome?

A

Increase in maternal age

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4
Q

What pair of chromosomes is affected?

A

21st pair

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5
Q

Neurological Findings

A

Brain weight
Head shape
Structural abnormalities
Myelination
Overall, a developmental delay

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6
Q

Neurological findings
- Describe the weight of the brain?

A

76% of the normal brain weight with less weight of the cerebellum and brain stem

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7
Q

Neurological findings
- Head shape

A

Microcephaly/Bradchycephaly

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8
Q

Neurological findings
- Altered synaptic morphology leading to?

A

Decreased synaptogenesis

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9
Q

Neurological Findings
- Structural abnormalities in dendritic spines in pyramidal tracts of motor cortex leading to

A

Motor incoordination

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10
Q

Neurological Finding
- delayed completion of myelination occurs when?

A

2 months - 6 years of age

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11
Q

Sensory conditions

A

Visual and hearing deficits

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12
Q

Cardiopulm conditions

A

Atrial septal defect and ventral septal defect
Risk for restrictive pulmonary disease and weak cough d/t generalized trunk and extremity weakness
Decreased lung volumes
Reduced level of physical fitness

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13
Q

Cardiopulm conditions
- decreased lung volumes

A

Vital capacity
Total lung capacity

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14
Q

MSK findings

A

Hypotonia and ligament laxity
Reduced isometric strength

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15
Q

MSK Findings
- hypotonia and ligament laxity

A

Pes planus
Patellar instability
Scoliosis
Atlanto-axial dislocation
Hip dislocation

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16
Q

Difficulties with motor learning

A

Difficulty generalizing skills
Need frequent practice sessions to maintain learned skills
Increased reaction time
A limited repertoire of responses
Responds well to practice with frequent repetitions

17
Q

PT Evaluation

A

Subjective
Objective
Gross and fine motor fxn
Posture and balance
MSK assessment
Standardized outcome measure (fxn assessment)

18
Q

PT Evaluation
- Subjective

A

Pregnancy and birth history
Medical/surgical management
Developmental history

19
Q

PT Evaluation
- objective

A

Comprehensive developmental testing
AIMS
PDMS- II
Movement ABC
Bayley scales of Infant Development- III (1-42 months)

20
Q

PT Evaluation
- posture and balance

A

Automatic reactions
Postural responses

21
Q

PT Evaluation
- MSK assessment

A

Fxn strength testing
ROM and joint laxity

22
Q

PT Evaluation
- Standardized outcome measure (fxn assessment)

A

GMFM-88

23
Q

PT Evaluation
- Gross motor fxn measures (GMFM)

A

5 domains

24
Q

PT Evaluation
- Gross motor fxn measure–> 5 domains

A

Lying and rolling
Sitting
Crawling and kneeling
Standing
Walking, running and jumping

25
Q

Gross motor Fxn Measure
0

A

Does not initiate

26
Q

Gross motor fxn measure
1

A

Inititates

27
Q

Gross motor fxn measure (GMFM)
2

A

Partially completes

28
Q

Gross motor fxn measure (GMFM)
3

A

Completes

29
Q

Gross motor function measure (GMFM)
9 (or leave blank)

A

Not tested (NT)

30
Q

Principles of PT Management

A

Teaching caregivers appropriate positioning and handling activities to promote antigravity control and WB
Design activities to encourage the development of antigravity of muscle strength in all positions
Emphasizing trunk extension and extremity loading tends to increase axial muscle tone

31
Q

Principles of PT Management
Pt 2

A

Encouraging emergence of righting and postural reactions through use of rotation within and during movm’t
Encouraging dynamic rather than static exploration of movm’t
Facilitating emergence of developmental milestones when chronologically appropriate, including supported sitting and standing when trunk control and alignment can be established

32
Q

Principles of PT Management
Pt 3

A

Anticipating the delay in postural control responses and providing functional opportunities to enhance development in areas of cognition, language, and socialization
Teaching parents and other members activities and position choices that will enhance the child’s overall development

33
Q

Principles of PT Management
- Use of aligned compression or WB forces stimulate?

A

Longitudinal bone growth as well as thickness and density of the bone and shaft

34
Q

Principle of PT Management
- Aligned, supported WB promotes?

A

Joint stability and formation

35
Q

Principles of PT Management
- Facilitation of…

A

Muscular co-contraction
Force production
Increased muscle tone