Down Syndrome Flashcards
What is down syndrome also known as?
Trisomy 21
What is down syndrome?
A chromosomal disorder resulting in 47 chromosomes instead of 46
What can increase the risk of having a child with down syndrome?
Increase in maternal age
What pair of chromosomes is affected?
21st pair
Neurological Findings
Brain weight
Head shape
Structural abnormalities
Myelination
Overall, a developmental delay
Neurological findings
- Describe the weight of the brain?
76% of the normal brain weight with less weight of the cerebellum and brain stem
Neurological findings
- Head shape
Microcephaly/Bradchycephaly
Neurological findings
- Altered synaptic morphology leading to?
Decreased synaptogenesis
Neurological Findings
- Structural abnormalities in dendritic spines in pyramidal tracts of motor cortex leading to
Motor incoordination
Neurological Finding
- delayed completion of myelination occurs when?
2 months - 6 years of age
Sensory conditions
Visual and hearing deficits
Cardiopulm conditions
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
Cardiopulm conditions
- decreased lung volumes
Vital capacity
Total lung capacity
MSK findings
Hypotonia and ligament laxity
Reduced isometric strength
MSK Findings
- hypotonia and ligament laxity
Pes planus
Patellar instability
Scoliosis
Atlanto-axial dislocation
Hip dislocation
Difficulties with motor learning
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
PT Evaluation
Subjective
Objective
Gross and fine motor fxn
Posture and balance
MSK assessment
Standardized outcome measure (fxn assessment)
PT Evaluation
- Subjective
Pregnancy and birth history
Medical/surgical management
Developmental history
PT Evaluation
- objective
Comprehensive developmental testing
AIMS
PDMS- II
Movement ABC
Bayley scales of Infant Development- III (1-42 months)
PT Evaluation
- posture and balance
Automatic reactions
Postural responses
PT Evaluation
- MSK assessment
Fxn strength testing
ROM and joint laxity
PT Evaluation
- Standardized outcome measure (fxn assessment)
GMFM-88
PT Evaluation
- Gross motor fxn measures (GMFM)
5 domains
PT Evaluation
- Gross motor fxn measure–> 5 domains
Lying and rolling
Sitting
Crawling and kneeling
Standing
Walking, running and jumping