4.3- Pediatric Syndromes Flashcards
What is the most frequent cause of mental retardation and birth defect?
Down’s Syndrome
What syndrome has an extra 21st chromosome?
What syndrome is known as the cat cry syndrome?
Trisomy 21
Cri-du-chat syndrome
What are the 4 physical characteristics of someone with Down’s Syndrome?
hypotonic, joint hypermobility, flat facial profile, tongue may protrude due to small oral cavity
Why is motor development slow with Down’s Syndrome?
Poor fitness due to lower activity levels leads to ___, ___, and ___ problems.
due to lack of postural tone and hypermobile joints
weight gain, cardiac, and respiratory problems
Down’s Syndrome leads to….
1. 2. 3. 4. 5. 6.
- delayed development
- impaired motor function
- 40-66% have congenital heart disease
- musculoskeletal- flat feet, scoliosis, 15-20% atlantoaxial instability
- possible visual & hearing impairments
- majority mild to moderate intelligence
15-20% of Down’s Syndrome individuals develop _____.
Why might a Down’s revert back to a childlike state?
leukemia
develop plaques similar to Alzheimers
What PT interventions should be used with a Down’s Syndrome patient? 1. 2. 3. 4.
- stability/WB through aligned joints
- encourage mobility
- postural control
- handle firmly w/ vestibular input
- also watch respiratory- esp. when it comes to posture
What are 4 physical characteristics of Cri-du-chat syndrome? (Fairly rare syndrome)
- cat-like cry due to small larynx
- microcephaly
- wide set eyes
- profound mental retardation
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)?
Prader Willi Syndrome
What syndrome has characteristics of multiple joint contractures- usually requires surgery?
Arthrogryposis Multiplex Congenita (AMC)
Arthrogryposis Multiplex Congenita (AMC) patients have multiple joint contractures. What causes these contractures?
restrictions to movement in utero
What is Osteogenisis Imperfecta?
Define the 4 types.
- 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
What syndrome is characterized by respiratory compromise due to abnormally thick mucus buildup, difficulty digesting fats?
Cystic Fibrosis
Cystic Fibrosis patients have salty taste and get many respiratory infections due to mucus buildup. What are 4 PT interventions for this patient?
- Chest PT/Postural drainage 3-5x/day
- Strengthen shoulder & chest wall muscles to help
- Poor tolerance to therex due to low O2 sat- teach energy conservation
- Low impact endurance training
- use Perceived exertion scale & dyspnea scale
- keep O2 sat > 90%
What is Spinal Muscle Atrophy?
What are the 2 types discussed in class?
- anterior horn cells progressively deteriorate
- hypotonic in peripheral areas rather than central
Types:
- Acute Infantile SMA
- Chronic Childhood SMA
Describe Acute Infantile Spinal Muscle Atrophy.
- obvious at birth - “limp baby”
- “frog-legged” LE posture with weak cry
- death due to respiratory compromise 7-9 months
Describe Chronic Childhood Spinal Muscle Atrophy.
- later onset- 2-18 months
- unable to sit/walk without orthosis due to weakness
- die of respiratory compromise before 7 years old
PKU patients are missing an enzyme and must eliminate _____ from diet.
If it is not eliminated, child develops __________.
phenylalanine
mental and growth retardation
(along with seizures & behavioral problems
found this in the book)
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?
Duchene Muscular Dystrophy
What maneuver is used to get up and down from floor with Duchene Muscular Dystrophy?
Gower’s Maneuver (use hands to walk up legs to stand)
What causes pseudohypertrophy and where is it commonly found?
muscle fibers break down and are replaced by fat
calves
(Duchene Muscular Syndrome)
What percentage of Duchene Muscular Dystrophy patients have MR?
What is the primary reason for death with these patients?
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)
What are 6 PT interventions for Duchene Muscular Dystrophy?
- Prevent deformity & prolong function
- Recreational activities at submax level good for aerobic conditioning (walk 2-3 hrs/day….book says bike riding & swimming is good too)
- ROM to prevent contractures
- Skin care
- Adaptive equipment
- Proximal > distal muscle weakness
What is the leading INHERITED cause of MR?
What are behavior characteristics for this syndrome?
Fragile X Syndrome
tactile defensiveness and decreased tolerance to multiple sensory inputs
What syndrome has physical characteristics of MR, poor coordination, decreased tone, long narrow face with prominent forehead, jaw, and ears?
Fragile X syndrome
What symptoms are associated with Rett Syndrome?
Early development normal with symptoms appearing about 1 year
MR, ataxia, growth retardation
- stereotypical hand movements- flapping
