Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pediatric PT > Arthrogryposis and Osteogenesis Imperfecta > Flashcards

Arthrogryposis and Osteogenesis Imperfecta Flashcards

1
Q

What is Arthrogryposis Multiplex Congenita?

A

A congenital, non-progressive neuromuscular syndrome that has degeneration of the anterior horn cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

When is Arthrogryposis Multiplex Congenita usually diagnosed?

A

insult during the first trimester while in utero (presence of club feet)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the clinical presentation fo Arthrogryposis Multiplex Congenita?

A
  • 2+ contractures
  • weakness
  • fibrosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the etiology of Arthrogryposis Multiplex Congenita?

A

unknown

Many possible contributors:
- Hyperthermia
- Prenatal viral infection
- Mother/fetus vascular compromise
- Uterine vascular compromise
- Septum in the uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What disorders is Arthrogryposis Multiplex Congenita commonly associated with?

A

neurogenic and myopathic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Distal Arthtogryposis is associated with what error?

A

chromosomal error

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the most common form of arthrogryposis?

A

Amyloplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the presentation of amyloplasia?

A
  • decrease in fetal movement
  • lack of growth and muscular development
  • contractures/deformities
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Distal arthrogryposis is inherited as a autosomal (recessive/dominant) trait.

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Some forms of Arthrogryposis Multiplex Congenita have been mapped to what chromosomes?

A

5, 9, 11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

(true/false) The majority of Arthrogryposis Multiplex Congenita cases are genetic

A

FALSE

–> hence, why they are difficult to detect early

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What type of ultrasound will help detect anomalies and decreased fetal movement?

A

Level II ultrasound

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What lab value helps detect maternal infection during the first 6 months in utero?

A

immunoglobulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

(true/false) Muscles are formed NORMALLY prenatally in those with arthrogryposis but are replaced by fibrous and fatty tissue during fetal development

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

If an infant is diagnosed in utero with arthrogryposis, how can a mother help exercise the baby?

A
  • deep breathing
  • light exercise
  • daily caffeine intake
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

(true/false) The chance of arthrogryposis at joints is almost even.

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Describe Presentation I of arthrogryposis.

A

Hips: flexion; dislocated

Knees: extension

Clubfeet (equinovarus)

Shoulders: internally rotated

Elbows: flexed

Wrists: flexed; ulnarly deviated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Describe presentation II of arthrogryposis?

A

Hips: abducted; externally rotated

Knees: flexion

Clubfeet

Shoulders: internally rotated

Elbows: extended

Wrists: flexed and ulnarly deviated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What surgical method is most commonly used to treat clubfeet?

A

Ponseti Method
–> involves constant serial casting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the standing goal in infants with arthrogryposis during the first year?

A

Standing for 2 hours/day

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How often should AFOs be worn during the day in an infant with arthrogryposis?

A

22 hours/day

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the stretching parameters for infants with arthrogryposis?

A

3-5 sets x 3-5 reps
20-30 second hold

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the primary goal for preschoolers with arthrogryposis?

A

improve independence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the primary interventions for preschoolers with arthrogryposis?

A

stretching and bracing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
When does efficient ambulation become an issue in children with arthrogryposis?
school age --> alternate means of mobility may be necessary
26
What are the primary goal for school aged children with arthrogryposis?
- education - independent mobility
27
(true/false) Splinting and stretching are not important for school age children with arthrogryposis
FALSE (it is)
28
(true/false) Individuals with arthrogryposis who needed assistance with ADL’s continued to require assistance into adulthood
true
29
What can be an issue during transitioning to adulthood in those with arthrogryposis?
- Pain - activity limitations due to decreased ROM and strength
30
(true/false) With arthrogryposis, the number of painful regions was associated with decreased mobility
true
31
What is osteogenesis imperfecta?
Abnormality in type I collagen that affects bone formation
32
What is the most severe classification of osteogenesis imperfecta?
osteogenisis imperfecta congenita ## Footnote high mortality rate and poor prognosis
33
What are characteristics of osteogenisis imperfecta congenita?
- Numerous fractures at birth - Dwarfism - Bowing of long bones - Blue Sclerae - Dentinogenesis imperfecta
34
osteogenisis imperfecta congenita has a high mortality rate secondary to what?
Intracranial hemorrhage at birth or recurring respiratory tract infections during infancy
35
What is the mild form of osteogenesis imperfecta?
Osteogenesis Imperfecta Tarda
36
What are the characteristics of osteogenesis imperfecta tarda type I (OI tarda gravis)?
- dentinogenesis imperfecta - short stature - LE bowing
37
What are the characteristics of osteogenesis imperfecta tarda type II (OI tarda levis)?
- average height - good prognosis for ambulation - least disabling form of OI
38
What is the least disabling form of OI?
OI Tarda Type II (OI tarda levis)
39
definition: blue-yellow, small, misshapen teeth result from a defect in synthesis of type I collagen. It is found in patients with osteogenesis imperfecta.
Dentinogenesis
40
What tests are used to detect OI prenatally?
- US - chorionic villus sampling - amniocentesis
41
What tests are used to detect OI postnatally?
- collagen analysis - DNA test - CT - MRI - urine - bone density
42
What medications are used for medical management of OI?
- biophosphonates (reduce Fx and improve density) - vitamin D
43
What FX management is used for treatment of OI?
internal fixation with intermedullary rods
44
What are indications for internal fixation in those with OI?
- multiple Fx - long bone deformity - impaired function
45
What do internal fixating rods help prevent in those with OI?
bowing after Fx
46
What are s/s of OI?
- dislocation - Fx - bone pain - thin/smooth skin - nose bleeds - diaphoresis - hyperpyrexia
47
What is hyperpyrexia?
temperature > 106
48
What is epistaxis?
nosebleeds
49
What is diaphoresis?
profuse sweating
50
What are secondary impairments associated with OI?
- scoliosis - kyphosis - respiratory complications
51
How is prognosis of OI determined?
Dependent upon type of OI
52
What factors of OI are associated with a high mortality rate?
- multiple Fx prenatally - Fx during birth
53
What should you avoid in those with OI during infancy?
- PROM - pull --> sit with traction on UEs - force through long bones
54
When does fracture frequency decrease in those with OI?
school age
55
What are concerns during adulthood in those with OI?
- deafness - scoliosis and/or kyphosis - pain
56
What is the priority for adults with OI?
living independently
57
What AD do those with OI commonly use while ambulating community distances?
W/C
58
(true/false) The majority of those with OI do not meet exercise guidelines of 30 mins/day.
FALSE (they do)
59
(true/false) those with OI have a low satisfaction with life
FALSE (high satisfaction)
60
(true/false) Difficulties in those with OI are found in only 1 aspect of the ICF model.
FALSE (found in all domains)
61
What was commonly found in OI patients during adulthood?
pain and scolisosis
62
___% of children abused have a disability.
14%
63
The rate of abuse in children with a disability is ___x.
3x
64
(true/false) Maltreatment can lead to further disability
true
65
(true/false) Increased risk of maltreatment is not consistent across disability type
true
66
What are the highest risks of experiencing malpractice?
- mental/behavioral disorders - conduct disorder - intellectual disability
67
(true/false) There is an increased risk of malpractice in those with ASD, Down syndrome, spina bifida, cleft lip/palate
FALSE (no increased risk) --> Reasons for no increased risk in some populations include: dx are well supported, DS is screened for during pregnancy and parents make choice to continue pregnancy, parents tended to be older and better off socioeconomically

Pediatric PT (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions