Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

NMSP - Exam 2 > Pediatric Myopathies > Flashcards

Pediatric Myopathies Flashcards

1
Q

When are developmental assessments performed and what is the purpose of them?

A

Performed at every well child visit

= help determine if child is keeping up with expected milestones

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

Developmental assessments can be used for the parents how?

A

Education for them and to show them there is a wide range of normal

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

The ____ a developmental deficit is identified, and the _____ an intervention is made the _____ the outcome

A

The EARLIER a developmental deficit is identified and the EARLIER an intervention is made the BETTER the outcome

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

What are the 4 domains of pediatric development?

A
  1. Gross motor
  2. Fine motor
  3. Language
  4. Cognitive/social-emotional and Behavior
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the 4 domains of pediatric development?

A
  1. Gross motor
  2. Fine motor
  3. Language
  4. Cognitive/social-emotional and Behavior
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is more concerning than a child not meeting developmental milestones?

A

Losing developmental skills that had already been achieved!

developmental regression

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

What should you be suspicious of if developmental regression occurs?

A

Progressive disease

– losing developmental skills that had already been achieved

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

What age should a child be able to hold their chin up?

A

2 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What age should a child be able to rollover?

A

4 months

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

What age should a child be able to sit up?

A

6 months

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

What age should a child be able to pull themselves up to a stand?

A

9 months

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

What age should a child be able to stand on their own?

A

1 year

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

What age should a child be able to run?

A

2 years

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

What age should a child be able to pedal a tricycle and climb stairs normally?

A

3 years

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

What age should a child be able to balance on 1 foot?

A

4 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are 2 screening tools that can be used?

A
  1. DDST-11

2. M-CHAT-R

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

What does the DDST-11 screening tool do?

A

Parenteral questionnaire to assess 4 developmental domains at each well child visit

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

When is the M-CHAT-R screening administered?

A

18 and 24 months

19
Q

What does the M-CHAT-R screening tool assess?

A

Focuses on personal-social domain and language domain

20
Q

Decreased muscle tone

A

Hypotonia

21
Q

Decreased ability to voluntarily and actively move muscles against resistance

A

Weakness

22
Q

What inheritance pattern occurs with Duchenne and Becker Muscular Dystrophy?

A

X-linked Recessive inheritance

23
Q

What type of mutation occurs in the dystrophin gene with Duchenne?

A

Frameshift in dystrophin gene

24
Q

What type of mutation occurs in the dystrophin gene with Becker?

A

In-frame mutation in dystrophin gene

25
Q

Onset and outlook for Duchenne?

A

Around 2 years old –> fatal by teens to mid-twenties

26
Q

Which Muscular dystrophy has absent neck flexor strength and cognitive dysfunction?

A

Duchenne

27
Q

Duchenne Muscular Dystrophy symptoms?

A

Proximal muscle weakness, delayed walking/running with waddling gait

    • lordosis and scoliosis
    • calf and thick muscle pseudohypertrophy
28
Q

Onset and outlook for Becker?

A

Presents later in life –> fatal in 40-60s

29
Q

What molecule will be increased with Duchenne/Becker Muscular Dystrophies and what is used in their treatment?

A

Increased CK

–> Steroids

30
Q

Is the neck flexor strength and cognitive function PRESERVED with Becker?

A

YES

31
Q

What is the Gower Maneuver a sign of?

A

Severe proximal muscle weakness

32
Q

Describe the Gower Maneuver

A

Going from the ground to standing:

  • hands and knees
  • hands and feet
  • rolling up to a stand
33
Q

What are some symptoms of Congenital Muscular Dystrophies?

A

Hypotonia, weakness, joint contractures AT BIRTH

34
Q

How are Congenital Muscular Dystrophies inherited and where are the defects usually?

A

AR inheritance

– defects in ECM proteins

35
Q

What is a Glycogen Storage Disorder?

A

Pompe disease

36
Q

How is Pompe disease inherited and what gene is mutated?

A

AR inheritance

– mutated alpha-glucosidase gene

37
Q

What will buildup in the muscles with Pompe Disease?

A

Glycogen

38
Q

What are the symptoms of Pompe Disease?

A

Hypotonia, weakness, troubles feeding, breathing

Cardiomyopathy

39
Q

What is a possible treatment for Pompe Disease?

A

Enzyme therapy

40
Q

When will Juvenile Dermatomyositis present?

A

7 years old

41
Q

Juvenile Dermatomyositis has many overlapping features with normal onset Dermatomyositis. What is a unique one though?

A

Peri-Ungual bed thrombi/hemorrhages around the nail beds

42
Q

If GGT is elevated think?

A

Liver

43
Q

If GGT is normal think?

A

Muscle

44
Q

What does an elevated CK indicate?

A

Muscle damage

NMSP - Exam 2 (29 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions