Down Syndrome

Question 1

Cause and demographics

Answer 1

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

Question 2

When is prenatal screening done for DS

Answer 2

-10 weeks
-14 weeks

-performance of maternal blood tests and ultrasound

Question 3

Presentation of DS

Answer 3

-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)

Question 4

Comorbid neurological conditions with DS

Answer 4

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

Question 5

Comorbid MSK conditions with DS

Answer 5

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

Question 6

Comorbid cardiovascular and pulmonary conditions with DS

Answer 6

-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

Question 7

Tracheomalacia or laryngomalacia co-morbidities with DS

Answer 7

-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)

Question 8

Comorbid GI conditions with DS

Answer 8

Newborn: poor feeding/weight gain, vomiting, constipation

GERD

celiac disease (1-7%)

Question 9

Comorbid endocrine conditions with DS

Answer 9

hypothyroidism (4-18%)
-managed with thyroid meds: Thyroxine–> can cause hypo or hyperthyroidism depending on the dosage

DM (4.2X more)

Question 10

Comorbid sensory conditions with DS

Answer 10

75% have hearing deficits

50-75% have otitis media

60% have vision deficits

Question 11

Multisystem comorbid conditions DS

Answer 11

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

Question 12

Motor prognosis DS

Answer 12

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

Question 13

BSF impairments

Answer 13

hypotonia
-contributes to GM delays

postural control
-inefficient co-contraction of mm. –> Postural reactions are often slow

strength

skeletal alignment

Question 14

Activity and participation limitations

Answer 14

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

Question 15

Activity limitation outcome measures

Answer 15

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

Question 16

PT goals for patients with DS

Answer 16

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

Question 17

PT interventions

Answer 17

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

Question 18

TRANSITION TO ADULTHOOD:

Answer 18

-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