Down Syndrome

Question 1

Which chromosome is affected in Down Syndrome?

Answer 1

21

Question 2

Physical Feature of Down Syndrome:

Answer 2

Microcephaly.
Flattening of occiput and face, broad neck, small nose, dysplastic ear, single palmar crease.
Upward slant of eyes, epicanthal folds, brushfield spots.
Short stature; small hands, feet, digits; excess space between first and second toes.
Macroglossia (protruding tongue).

Question 3

Microcephaly

Answer 3

brain is abnormally rounded and short with a decreased AP diameter, specifically called microbrachycephaly

Question 4

Neuromotor System of Down Syndrome:

Answer 4

hypotonia
decreased strength
posture control impairments
gross and fine motor delays
gait acquisition
motor control, motor planning deficits
secondary impairments
speech/language delays

Question 5

Ligamentous laxity

Answer 5

joint hyperflexibility

Question 6

What is joint hyperflexibility due to?

Answer 6

collagen deficit

Question 7

What does joint hyperflexibility result in?

Answer 7

pes planus (flat feet), patellar instability, scoliosis 
antlanto-axial instability (AAI)

Question 8

Atlanto-axial instability (AAI)

Answer 8

Odontoid ligament laxity, excessive motion C1 on C2.

Annual radiological exams.

Question 9

Red flags for AAI

Answer 9

neck pain, persistent head tilt, torticollis.
UMN signs: intermittent or progressive weakness, spasticity and hyperreflexia, gait changes or loss of motor skills, loss of bowel or bladder control, changes in sensation in hands/feet.

Question 10

Atlanto-occipital Instability

Answer 10

absent concave shape of C1 vertebrae and ligamentous laxity

7-10mm subluxation requires surgery.

Question 11

High risk sports for AOD:

Answer 11

gymnastics
flip turns, butterfly stroke in swimming
diving
snow skiing
high jump
pentathalon
squat and power lift
exercises placing undue stress on head/neck

Question 12

Other MSK impairments of DS:

Answer 12

Scoliosis – 50% of cases.
Hip dislocation or dysplagia – 1.25 - 7% of cases.
Slipped capital femoral epiphysis (SCFE).
Patellar instability

Question 13

Intervention for visual impairments of DS:

Answer 13

posture; vestibular input for focusing, processing

Question 14

Intervention for auditory impairments of DS:

Answer 14

Audiologic evaluation; vestibular stimulation for equilibrium

Question 15

Intervention for tactile/proprioceptive impairments of DS:

Answer 15

Weight bearing, heavy work activities for tactile defensiveness, proximal stability, hyperactivity

Question 16

Interventions for vestibular impairments of DS:

Answer 16

Individualize movement on swings, barrels, scooters to impact muscle tone and movement for balance, muscle activation, perception, spatial awareness.

Question 17

Cardiopulmonary System Impairments of DS:

Answer 17

ASD: atrial septal defect
VSD: ventricular septal defect
lower max. HR
congenital heart defects

Question 18

Respiratory abnormalities of DS:

Answer 18

lung hypoplasia with pulmonary hypertension.
tracheal malasia.
lower peak oxygen consumption and minute ventilation.
obstructive sleep apnea

Question 19

Sensory Disorders

Answer 19

vision- opthalmologic disorders

hearing loss

Question 20

Endrocrine Disorders:

Answer 20

Diabetes mellitus type 1.

Obesity

Question 21

GI Disorders:

Answer 21

GI tract malformations, 5%.
Renal, urinary tract abnormalities.
Infection

Question 22

Typical Gait in Children with

Down Syndrome

Answer 22

Wide base of support.
Stiff knees.
Out-toeing. 
Weightbearing on medial borders of feet.
Arms in high guard

Question 23

Atypical transitions with limited trunk rotation

Answer 23

Floor to sitting pushing through abducted LE’s.
Sitting to standing propelled through squatting.
*Bottom scooting.

Question 24

Activity Interventions:

Answer 24

Early and frequent prone activities on floor.
Quadruped play with hands on raised surface.
*Hip Helpers – hip alignment, resistance.
Bench sitting with feet supported.
Guided squat to stand, sitting to standing from bench.
Limit early standing to protect ligamentous structures in knees.
Early mobility on riding toys.