Down Syndrome Flashcards
Which chromosome is affected in Down Syndrome?
21
Physical Feature of Down Syndrome:
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).
Microcephaly
brain is abnormally rounded and short with a decreased AP diameter, specifically called microbrachycephaly
Neuromotor System of Down Syndrome:
hypotonia decreased strength posture control impairments gross and fine motor delays gait acquisition motor control, motor planning deficits secondary impairments speech/language delays
Ligamentous laxity
joint hyperflexibility
What is joint hyperflexibility due to?
collagen deficit
What does joint hyperflexibility result in?
pes planus (flat feet), patellar instability, scoliosis antlanto-axial instability (AAI)
Atlanto-axial instability (AAI)
Odontoid ligament laxity, excessive motion C1 on C2.
Annual radiological exams.
Red flags for AAI
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.
Atlanto-occipital Instability
absent concave shape of C1 vertebrae and ligamentous laxity
7-10mm subluxation requires surgery.
High risk sports for AOD:
gymnastics flip turns, butterfly stroke in swimming diving snow skiing high jump pentathalon squat and power lift exercises placing undue stress on head/neck
Other MSK impairments of DS:
Scoliosis – 50% of cases.
Hip dislocation or dysplagia – 1.25 - 7% of cases.
Slipped capital femoral epiphysis (SCFE).
Patellar instability
Intervention for visual impairments of DS:
posture; vestibular input for focusing, processing
Intervention for auditory impairments of DS:
Audiologic evaluation; vestibular stimulation for equilibrium
Intervention for tactile/proprioceptive impairments of DS:
Weight bearing, heavy work activities for tactile defensiveness, proximal stability, hyperactivity
Interventions for vestibular impairments of DS:
Individualize movement on swings, barrels, scooters to impact muscle tone and movement for balance, muscle activation, perception, spatial awareness.
Cardiopulmonary System Impairments of DS:
ASD: atrial septal defect
VSD: ventricular septal defect
lower max. HR
congenital heart defects
Respiratory abnormalities of DS:
lung hypoplasia with pulmonary hypertension.
tracheal malasia.
lower peak oxygen consumption and minute ventilation.
obstructive sleep apnea
Sensory Disorders
vision- opthalmologic disorders
hearing loss
Endrocrine Disorders:
Diabetes mellitus type 1.
Obesity
GI Disorders:
GI tract malformations, 5%.
Renal, urinary tract abnormalities.
Infection
Typical Gait in Children with
Down Syndrome
Wide base of support. Stiff knees. Out-toeing. Weightbearing on medial borders of feet. Arms in high guard
Atypical transitions with limited trunk rotation
Floor to sitting pushing through abducted LE’s.
Sitting to standing propelled through squatting.
*Bottom scooting.
Activity Interventions:
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.
