Down Syndrome Flashcards
Cause and demographics
results from 3 copies (trisomy)f of the 21st chromosome
-most common chromosomal condition diagnosed in the US
-1 in 700
-6000 babies per year born with DS
-incidence rate increases as maternal age increases –> 1 in 50 births at age 45
When is prenatal screening done for DS
-10 weeks
-14 weeks
-performance of maternal blood tests and ultrasound
Presentation of DS
-hypotonia
-small head, ears, and mouth
-epicanthal folds- upper eyelid covers the inner corner of the eye
-flat nasal bridge
-upward slanting palpebral fissures (angle between the inner and outer corner of the eye)
Comorbid neurological conditions with DS
6-8% incidence of seizures
reduced overall brain vol. (smaller frontal, temporal lobes, hippocampus, cerebellum)
cognitive disability
lang development delay
increased risk of developing emotional, behavioral, and psych problems
10% dual diagnosis with ASD
6-8% with ADHD
Comorbid MSK conditions with DS
hypotonia
ligamentous laxity
-OA laxity- 15% incidence, only 2% develop cord compression symptoms –> rarely leading to paralysis
-can lead to difficulty walking, abnormal gait, neck pain, easy fatigability, limited neck mobility, torticollis, change in hand function, sensory impairment
-screening is controversial (cost)
juvenile idiopathic arthritis 6x more likely
decreased bone density
–skeletal age lags behind chronological age
Comorbid cardiovascular and pulmonary conditions with DS
-50% with congential heart defects
-commonly septal
Treatment for CHF:
-diuretics
-ACE inhibitors
-Digoxin- Antiarrhythmic and Blood pressure support
**SEs: feelings of tiredness and mental confusion
Tracheomalacia or laryngomalacia co-morbidities with DS
-may lead to an unstable airway
-softening of cartilage rings in airway
-pulmonary obstructive sleep apnea
-sleep study between 3-4 years (assess for sleep apnea)
Comorbid GI conditions with DS
Newborn: poor feeding/weight gain, vomiting, constipation
GERD
celiac disease (1-7%)
Comorbid endocrine conditions with DS
hypothyroidism (4-18%)
-managed with thyroid meds: Thyroxine–> can cause hypo or hyperthyroidism depending on the dosage
DM (4.2X more)
Comorbid sensory conditions with DS
75% have hearing deficits
50-75% have otitis media
60% have vision deficits
Multisystem comorbid conditions DS
Obesity- approx 50% in early childhood
-lower resting MR
Leukemia - most common malignancy in children with DS
-10-20x higher risk
-97% of cancers in ppl with DS
Motor prognosis DS
18 MO
-working on floor mobility and sitting skills
18-36 MO
-standing and walking are the primary focus
-92% walking by 36 months
3-6 YEARS
-walking, running, jumping
BSF impairments
hypotonia
-contributes to GM delays
postural control
-inefficient co-contraction of mm. –> Postural reactions are often slow
strength
skeletal alignment
Activity and participation limitations
delayed GM skill development
physical activity limitations
participation restrictions–> often more passive in recreation activities
adaptive behavior
–> Conceptual and practical skills are more challenging –> focus on practical application
Activity limitation outcome measures
GMFM
-gross motor screen
6MWT
-test of gait speed
-adolescent and adults with DS
TUG
-3 years to adults with DS
-tests dynamic balance
-MDC: 1.26 sec
Timed up and down stairs
-3-17 years with DS
-dynamic balance/stair climbing
-MDC: 12.52 sec
Pediatric balance scale
-8-12 years DS
-functional balance
-median score children with DS: 50-53 pts
Assessing levels of physical activity
-adolescents with DS
-physical fitness
-8 measurements: 4x10m shuttle run, 20m shuttle run, handgrip strength, standing broad jump, BMI, waist circumference, triceps and subscapular skinfold
FunFitness
-Special Olympic athletes
-balance and strength screen
-the test battery is feasible and reliable in this population
PT goals for patients with DS
enhance the acquisition rate of motor skills and prevent occurrence of secondary problems resulting from compensatory strategies to overcome hypotonia and joint instability
-co-create with family and child
-consider PA preferences
-use gross motor curves to communicate with parents about progress and expectations about attaining specific GM skills
PT interventions
EARLY INT:
-tummy time
—want 90 min/day total
—develop posterior mm.
-sensorimotor therapy
-LE orthotic intervention at onset of independent walking
-treadmill training: 0.2 m/s for 8 min/day, 5 days/week
–> Supported at pelvis by the therapist, accelerate the achievement of independent walking
MOTOR LEARNING:
-task-specific practice
-increased repetitions
-limit verbal cues and increase visual feedback or modeling
-slow movements when modeling to accommodate slower cognitive processing
3-18 YEARS:
-strength: inc force production
-postural control
-whole body vibration
-orthoses: improve balance, functional participation, GM skills
-aerobic training
-physical activity
-jump training
-bike riding
-hippotherapy - AO instability=contraindication
-HEP parent involvement
TRANSITION TO ADULTHOOD:
-planning begins around 16 years
-life expectancy about 60 years
-the primary concern is mental health —> 30% of adults with Down syndrome have depression
–DS and Alzheimer’s disease over 50
-obesity
-ortho conditions: OP, DJD
