Down Syndrome (GOLD)

Question 1

What is Down Syndrome?

Answer 1

Cell Division Error leading to an extra chromosome

Trisomy 21

Question 2

What can increase the risk of DS during pregnancy?

Answer 2

Increased maternal age; older oocyte may lead to predisposition of error in meiosis

Question 3

Clinical Presentation?

Answer 3

• Intellectual disability
• Hypotonia
• Almond-Shaped Eyes
• Simian-line (palmar crease)
• Congenital heart disease
• Developmental Delays

Question 4

Potential Complications?

Answer 4

• Atlantoaxial Instability
• Sensory, hearing, visual impairments
• Epilepsy;seizures

Question 5

Physical Therapy?

Answer 5

Addressing:

• Developmental Delays
• Hypotonia
• Ligament Laxity
• Muscular Weakness; quads and hip abductors

Question 6

Importance of Physical Therapy; what are we trying to prevent?

Answer 6

Avoid the use of compensatory strategies

Question 7

What cardiovascular problems are associated with Down Syndrome?

Answer 7

Congenital Heart Defects

Question 8

Tone Characteristics of Down Syndrome?

Answer 8

Hypotonia

Question 9

What is to most critical ligament that has laxity?

Answer 9

Atlantoaxial Ligament

Question 10

Motions of the neck we need to limit/avoid?

Answer 10

• Forceful neck flexion
• Rotation Activities

Question 11

In WB what motions should we avoid?

Answer 11

Hyperextension of Elbows and knees

Question 12

Patients with DS may present weakness of what muscles of the LE?

Answer 12

• Quadriceps
• Abductors