4.3- Pediatric Syndromes

Question 1

What is the most frequent cause of mental retardation and birth defect?

Answer 1

Down’s Syndrome

Question 2

What syndrome has an extra 21st chromosome?

What syndrome is known as the cat cry syndrome?

Answer 2

Trisomy 21

Cri-du-chat syndrome

Question 3

What are the 4 physical characteristics of someone with Down’s Syndrome?

Answer 3

hypotonic, joint hypermobility, flat facial profile, tongue may protrude due to small oral cavity

Question 4

Why is motor development slow with Down’s Syndrome?

Poor fitness due to lower activity levels leads to ___, ___, and ___ problems.

Answer 4

due to lack of postural tone and hypermobile joints

weight gain, cardiac, and respiratory problems

Question 5

Down’s Syndrome leads to….

1.
2.
3.
4.
5.
6.

Answer 5

1. delayed development
2. impaired motor function
3. 40-66% have congenital heart disease
4. musculoskeletal- flat feet, scoliosis, 15-20% atlantoaxial instability
5. possible visual & hearing impairments
6. majority mild to moderate intelligence

Question 6

15-20% of Down’s Syndrome individuals develop _____.

Why might a Down’s revert back to a childlike state?

Answer 6

leukemia

develop plaques similar to Alzheimers

Question 7

What PT interventions should be used with a Down’s Syndrome patient?
1.
2.
3.
4.

Answer 7

1. stability/WB through aligned joints
2. encourage mobility
3. postural control
4. handle firmly w/ vestibular input
5. also watch respiratory- esp. when it comes to posture

Question 8

What are 4 physical characteristics of Cri-du-chat syndrome? (Fairly rare syndrome)

Answer 8

1. cat-like cry due to small larynx
2. microcephaly
3. wide set eyes
4. profound mental retardation

Question 9

What syndrome has characteristics of obesity (obsessed with food beginning about 2 yo), short, hypotonic, mild to moderate MR, impaired respiratory function (related to PT)?

Answer 9

Prader Willi Syndrome

Question 10

What syndrome has characteristics of multiple joint contractures- usually requires surgery?

Answer 10

Arthrogryposis Multiplex Congenita (AMC)

Question 11

Arthrogryposis Multiplex Congenita (AMC) patients have multiple joint contractures. What causes these contractures?

Answer 11

restrictions to movement in utero

Question 12

What is Osteogenisis Imperfecta?

Define the 4 types.

Answer 12

• very brittle bones due to improper collagen synthesis

Type I - milder, don’t see until later childhood
Type II - most severe, (most don’t survive), fractures in utero
Type III - moderate and progressive
Type IV - a little worse than Type I

Question 13

What syndrome is characterized by respiratory compromise due to abnormally thick mucus buildup, difficulty digesting fats?

Answer 13

Cystic Fibrosis

Question 14

Cystic Fibrosis patients have salty taste and get many respiratory infections due to mucus buildup. What are 4 PT interventions for this patient?

Answer 14

1. Chest PT/Postural drainage 3-5x/day
2. Strengthen shoulder & chest wall muscles to help
3. Poor tolerance to therex due to low O2 sat- teach energy conservation
4. Low impact endurance training
   - use Perceived exertion scale & dyspnea scale
   - keep O2 sat > 90%

Question 15

What is Spinal Muscle Atrophy?

What are the 2 types discussed in class?

Answer 15

• anterior horn cells progressively deteriorate
• hypotonic in peripheral areas rather than central

Types:

1. Acute Infantile SMA
2. Chronic Childhood SMA

Question 16

Describe Acute Infantile Spinal Muscle Atrophy.

Answer 16

• obvious at birth - “limp baby”
• “frog-legged” LE posture with weak cry
• death due to respiratory compromise 7-9 months

Question 17

Describe Chronic Childhood Spinal Muscle Atrophy.

Answer 17

• later onset- 2-18 months
• unable to sit/walk without orthosis due to weakness
• die of respiratory compromise before 7 years old

Question 18

PKU patients are missing an enzyme and must eliminate _____ from diet.

If it is not eliminated, child develops __________.

Answer 18

phenylalanine

mental and growth retardation

(along with seizures & behavioral problems
found this in the book)

Question 19

What syndrome is only in boys and motor skills develop normally, but around 3-5 yo they start falling or having trouble going up/down stairs?

Answer 19

Duchene Muscular Dystrophy

Question 20

What maneuver is used to get up and down from floor with Duchene Muscular Dystrophy?

Answer 20

Gower’s Maneuver (use hands to walk up legs to stand)

Question 21

What causes pseudohypertrophy and where is it commonly found?

Answer 21

muscle fibers break down and are replaced by fat

calves

(Duchene Muscular Syndrome)

Question 22

What percentage of Duchene Muscular Dystrophy patients have MR?

What is the primary reason for death with these patients?

Answer 22

25-30%

smooth muscle, including cardiac, is affected- respiratory or cardiac failure may occur killing before age 25 (may use respirator for a few years)

Question 23

What are 6 PT interventions for Duchene Muscular Dystrophy?

Answer 23

1. Prevent deformity & prolong function
2. Recreational activities at submax level good for aerobic conditioning (walk 2-3 hrs/day….book says bike riding & swimming is good too)
3. ROM to prevent contractures
4. Skin care
5. Adaptive equipment
6. Proximal > distal muscle weakness

Question 24

What is the leading INHERITED cause of MR?

What are behavior characteristics for this syndrome?

Answer 24

Fragile X Syndrome

tactile defensiveness and decreased tolerance to multiple sensory inputs

Question 25

What syndrome has physical characteristics of MR, poor coordination, decreased tone, long narrow face with prominent forehead, jaw, and ears?

Answer 25

Fragile X syndrome

Question 26

What symptoms are associated with Rett Syndrome?

Early development normal with symptoms appearing about 1 year

Answer 26

MR, ataxia, growth retardation

• stereotypical hand movements- flapping