Brainscape's Knowledge GenomeTM

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


See full index

NMSP EXAM 2 > Clinical Approach to Myopathies in Children > Flashcards

Clinical Approach to Myopathies in Children Flashcards

1
Q

A _ assessment is preformed at every well child visit

A

developmental

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

a developmental screening or a screening of any type is not _

A

diagnostic

  • failed/concerning screening test is an indication for a more thorough evaluation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

development milestones allow for you to see if a child is “keeping up” with what is expected; success can be celebrates and delays can be discussed and plans for _ are made

A

interventions

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

developmental milestones/screens allow for what 2 things

A

parents/caretakers to become educated on what their children can do and will soon be able to do and also show them that thee is a range of normal when it comes to development

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

gross motor

fine motor

language

persona/social/cognitive/emotional/intelectual

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

describe the gross motor domain of pediatric development

A

movement involving the large muscles like supporting the head, rolling over, sitting up/walking

  • most important domain when it comes to myopathies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

describe fine motor domain of pediatric development

A

movements involving the hands and smaller muscles that are necessary for daily living skills like reaching and holding objects, writing, stacking, drawing

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

describe the language domain of pediatric development

A

being receptive to what is said, being expressive and talking, and both verbal and non verbal communication is assessed

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

describe the personal/social/cognitie/emotional/intellectual domain of pediatric development

A

assessment of attachment to others, self regulation, interaction with others

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

evidence shows that the earlier a developmental deficit is identified and the earlier an intervention is made, the _ the outcome

A

Better

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

not meeting a developmental milestone is concerning but what is more concerning

A

losing developmental skills that had already been achieved

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

when milestones that have been achieved begin to disappear be very concerned , think _ disease

(was feeding self now can’t, was walking now can’t)

A

progressive

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

hold chin up when in prone position -what age-

A

2 months

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

roll over from front to back - what age-

A

4 months

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

sit briefly without support -what age-

A

6 months (at 9 months they can sit well without support)

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

pull to standing holding on to something - what age-

A

9 months

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

stand without any support - what age-

A

12 months

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

run with coordination - what age-

A

2 years

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

pedal tricycle - what age-

A

3 years

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

climb stairs with alternating feet -what age-

A

3 years

21
Q

balance on one foot - what age-

A

4 years

22
Q

DDST-II (Denver developmental screening test) - what is it

A

screening tool that assesses the major 4 domains of development

  • most parental questionnaires are based on the DDST-II
  • preformed at every well child visit
23
Q

what is M-CHAT-R?

when is it adminstered?

A

modified checklist for autism in toddlers revised- focuses on the weak areas that are in the DDST- the personal/social and language domain

18-24 months of age

24
Q

children with autism of another diagnosis under the umbrella of pervasive developmental delay struggle with _ and _ with their environment

A

communication and interaction with their environment

25
Q

weakness

A

decreased ability to voluntarily and actively move muscles against resistance

26
Q

hypotonia

A

decrease muscle tone

27
Q

muscle tone can be defined as?

A

the resistance the examiner feels to externally imposed movements when the patient is in a relaxed state when they are not trying to resist being moved

28
Q

if hypotonia exists in the absence of weakness think

A

neuro involvement

29
Q

what is the most common severe childhood form of Muscular dystrophy

A

DMD (Duchenne muscular dystrophy)

30
Q

inheritance of DMD

A

X linked recessive inheritance

frame shift mutation in the dystrophin gene

dystrophin is totally absent or totally non-functional

31
Q

pathogenesis of DMD

A

dystrophin occurs nearly everywhere in the body and without it muscle membranes tear, necrosis occurs, and fibrosis develops

32
Q

clinical presentation of DMD

A

symmetrical proximal muscle weakness

no antigravity neck flexion strength

delayed walking/running (cant keep up with their peers)

waddling gait

gowers signs

gross motor domains fail to be met as progressive milestones around the age of 2

progresses rapidly ):

pesudohypertrophy of the calf and thigh

cognitive impairement

wheelchair by 10

cardiomyopathy, respiratory problems, die in twenties

33
Q

_ at the time of diagnosis of DMD is extremely elevated

A

CK

34
Q

treatment of DMD in children

A

steroids

35
Q

what is Becker muscular dystrophy

A

x linked recessive

it is an inflame mutation of the dystrophin gene usually just truncated

less severe than DMD

36
Q

clinical symptoms of BMD

A

symmetric proximal muscle weakness

neck flexion strength is preserved!

later in life presentation, slow progression

life expectancy to 6th decade

37
Q

treatment of BMD

A

steroids

38
Q

Gower maneuver is a sign of severe ?

A

proximal muscle weakness

39
Q

what is present at birth or early in infancy in a congenital muscular dystrophy

A

hypotonia , severe symmetric muscle weakness that starts proximal and then moves distally, joint conjectures, may have malformations of eyes/brain

40
Q

genetics of CMD (congenital muscular dystrophy)

A

most are autosomal recessive that involve structural proteins of the ECM (more common than Intracellular matrix defects)

**can be Merosin positive or Mersin negative

41
Q

describe the inheritance pattern of glycogen storage disorder type 2 (pompe disease)

**mutation in what

A

autosomal recessive with alpha glucosidase gene mutations that result in decreased enzyme activity and the buildup of glycogen in the lysosomes of cells in particular muscle

42
Q

what is the clinical presentation of pompe disease (glycogen storage disease type 2)

A

weakness and hypotonia EARLY

Cardiomyopathy (can have heart failure 18months)

respiratory issues

feeding problems

43
Q

treatment for pompe disease

A

enzyme therapy replacement

44
Q

what is juvinelle dermatomyositis?

A

the most common idiopathic myopathy in children

it is systemic and autoimmune with both cellular and humoral immunity involved

45
Q

mean age for JDM (juvinelle dermatomyositis)

A

7

46
Q

clinical findings of JDM

A

symmetric muscle weakness (proximal more often), helitrope rash with periorbital edema, gottrons papules , thrombi or hemorrhages in the peri-fungal beds

47
Q

why is creatine kinase measurements important in patients with suspected myopathies

A

elevated CK is an indicator of muscle damage

**highest in skeletal muscle

48
Q

explain how measurement of serum GGT (gamma glutamic transferase) can be helpful in the lab work up of patients with a suspected myopathy

A

GGT is highest in the liver so its its elevated then think liver if not think muscle

most of the other enzymes located in the liver are also in the muscle for ALT, AST, aldolase, and LDH could all be elevated in a muscle disorder.

NMSP EXAM 2 (3 decks)

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