Down Syndrome

Question 1

Etiology

Answer 1

• 1:800 live births
• genetic condition that causes delays in physical and intellectual development
• incidence increases with advancing maternal age but 80% of children are born to women <35
• most frequent chromosomal disorder
• diagnosis is confirmed by karyotype
• average life expectancy = 55

Question 2

Pre Natal Diagnosis

Answer 2

Chorionic Villus Sampling 8-12 weeks

Amniocentesis 12-20 wks

Percutaneous Umbilical Blood Smapling after 20 wks

Question 3

Diagnosis At Birth

Answer 3

• decreased mm tone
• slanting eyes with folds of skin at the inner corners
• hyperflexibility
• short, broad hands with simmion crease
• broad feet with short toes
• flat bridge of the nose
• short, low set ears
• short neck
• small head, separated sutures
• small oral cavity

Question 4

PT Evaluation

Answer 4

• birth and developmental history
• health interview
• parental concerns
• physical exam
• GMFM
• Peabody Scales of Motor Development
• Brunniks Osteresky

Question 5

PT POC

Answer 5

• early intervention
• parent education
• focus on long term functional outcome
• minimize the development of compensatory movement patterns
• build trunk and extermity strength and stability to promote optimal movement patterns
• emphasis on gait, posture, strength, balance and coordination
• prevent or manage complications of DS as developmental delay, obesity, and reduced levels of cardiovascular endurance
• monitor for AA instability**

Question 6

Atlanto Axial Instability

Answer 6

• increased mobility at the 1st and 2nd vertebrae
• abnormalities of the cervical vertebrae or ligamentous laxity or both
• impaired integrity of articulation = SC compression
• occurs in 10-30%
• signs
  
  • excessive fatigue
  • tripping
  • headaches
  • neck pain or limit mob
  • change in coordination
  • sensory motor deficits
  • spasticity
  • hyperreflexia

Question 7

Hip instability

Answer 7

• reduced acetabular containment due to flattened acetabula and flared iliac wings = hip subluxation or hip dislocation
• surgery for osteotomy; most succussful if performed before 6yo
• other: scoliosis, slipped capital femoral epiphyses (SCFE)