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					                                      DOWN SYNDROME
 Congenital, genetic disorder caused by Trisomy 21, translocation, or mosaicism (generally speaking
    higher functioning)
 Occurs in 1/800 births; ~5,000 children born/year
 Incidence increases with increasing maternal age (some evidence links it to increasing paternal age)

 Mental Retardation:
      o Mild to moderate (mild to profound impairments)
      o Placid personalities (sleep a lot)
      o Decreased crying as infants
 Diminished Head Growth:
      o Anterior/posterior growth < the biparietal diameter (broader vs. longer heads)
 Decreased Brain Mass:
      o Overall decrease to 76% of normal (cerebellum and brain stem 66% of normal)
      o Reduction in sulci
      o Smaller than normal neurons
      o Decreased synaptoprogenesis
      o Abnormalities in the dendritic spines
      o Decreased myelination b/w 2 months and 6 years (Alzheimer’s very common in older ind)
 Short Stature:
      o Growth of trunk > growth of extremities
      o Hands and feet broad and short with simian crease in hand and a curved 5th digit
      o Feet usually have a wide space b/w first and second tow
 Fattened Facial Profile:
      o Flattened nasal bridge, underdeveloped facial muscles and bones
      o Eyes are narrow
      o Slightly slanted eyelids
      o Small mouth, a narrow palate, and large, furrowed tongue (tongue sticking out)
      o Dentition often delayed and spotty, e.g. may get 1st tooth at 18 mos
 Congenital Heart Defects:
      o 35-40%
      o Atrioventricular canal and ventriculoseptal defects most common
 Hypotonia & Ligamentous Laxity:
      o Resulting in pes planus, patellar instability, scoliosis (52%), hip subluxation (poor development
           of femur and acetabulum) and atlantoaxial instability (laxity of the odontoid ligament)
 Hearing & Visual Problems:
      o Common including cataracts, myopia (%0%), farsightedness (20%), strabismus, nystagmus,
           Brushfield spots (different colored area in iris), mild to moderate hearing loss (80%), and
           chronic otitis media (Eustachian tubes never angle with development – all babies typically born
           with horizontal tubes, angle later in life, but not in DS)
 Overweight: tendency to become ~
 Pulmonary Hypertension: reduction in the total cross-sectional area of the vascular bed leading to ~
 Muscle Absence: finger and wrist flexors, psoas minor, and lack of differentiation of the mid-face
 Premature Aging: life expectancy in the 4th or 5th decade, examination of brain demonstrates changes
   similar to Alzheimer’s disease
PT Concerns:
Functional Level
       Milestones: large variability and delay in performance of motor skills
       Gait:
             o Immature pattern with heel-toe gait absent
             o Foot flat pattern
             o Decreased ankle flexion during toe-off and decreased extension on push-off, with a
                 stepping gait and out-toeing of the feet
             o Smaller average step length
             o Decreased time spent in single limb support and increased time in double limb support
             o Increased flexion of hips and knees
       Decreased function for age
             o Decreased score on functional assessments when compared to children of similar
                 chronological and mental age, especially with tasks involving agility and balance
             o Lower scores on running speed, balance, strength, and visual motor control

Impairment Level
       Hypermobility of the joints
            o Must be careful of atlantoaxial hypermobility
            o Monitor closely for scoliosis and hip dislocation
       Hypotonia – “W”sitting
       Decreased strength with difficulty recruiting muscles for quick bursts of force
       Postural control
            o Onset latency of responses slow (results in increased sway)
            o Responses to loss of balance insufficient to maintain stability
            o Decreased ability to adapt
       Decreased ability to combine and respond to incoming sensory info
            o Difficulty with tasks requiring combining visual and proprioceptive input (drawing,
               copying, mimicking)
            o Longer exposure to visual cues needed in order to use it
            o Auditory processing weak
            o Forming of schema update or development harder based on feedback info
       Cardiopulmonary problems
            o Decreased endurance
            o Decreased lung volume
            o Cardiac defects (very common, common cause of death)
            o Decreased ability to cough/clear airway (pneumonia)
       High incidence of leukemia

Direct Intervention
        Children respond positively to intervention with strength, postural control, improvement to
           milestones, gait, and higher level functioning

Family Education
       Important at all ages to assist in carryover to function

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