Pediatric Myopathies (Newman) Flashcards

1
Q

How often is a developmental screening performed?

A

at every child visit

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2
Q

What are the 4 domains of pediatric development?

A

gross motor
fine motor
language
personal/social/cognitive/emotional/intellectual

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3
Q

briefly define gross motor

A

movement involving large muscles; supporting head, rolling over, sitting up, walking and running; the most important domain when talking about myopathies

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4
Q

What is the most important domain in pediatric development in regards to myopathies?

A

gross motor; movement involving large muscles; supporting head, rolling over, sitting up, walking and running

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5
Q

briefly define fine motor

A

movements using the hands and smaller muscles; reaching for objects, holding objects and drawing

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6
Q

briefly define language

A

receptive; understanding
expressive; talking
verbal and nonverbal communication

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7
Q

Why is early intervention in children with developmental delays important

A

the EARLIER a developmental deficit is identified and intervention is made, the better the outcome

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8
Q

Significance of developmental regression in a child

A

losing developmental skills that have already been achieved is VERY concerning; i.e - child once able to feed themselves no longer can or a child who was once walking can no longer walk; think progressive disease

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9
Q

what age does a normally developing child be expected to hold their chin up when in the prone position?

A

2 months

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10
Q

what age does a normally developing child be expected to roll over from front to back?

A

4 months

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11
Q

what age does a normally developing child be expected to sit briefly without support?

A

6 months

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12
Q

what age does a normally developing child be expected to pull to stand holding onto something?

A

9 month

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13
Q

what age does a normally developing child be expected to stand without any support?

A

12 months

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14
Q

what age does a normally developing child be expected to run without coordination?

A

2 years

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15
Q

what age does a normally developing child be expected to pedal a tricycle?

A

3 years

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16
Q

what age does a normally developing child be expected to climb stairs with alternating feet?

A

3 years

17
Q

what age does a normally developing child be expected to balance on one foot?

A

4 years

18
Q

DDST-II

A

Denver Developmental Screening Test; assesses the 4 major domains of development; early identifications, early intervention, better outcome

19
Q

Parental questionnaires that MOST pediatricians use in their offices are based off of which screening test?

A

DDST-II; Denver Developmental Screening Test

20
Q

M-CHAT-R

A

Modified Checklist for Autism in Toddlers- Revised; administered between 18-24 months; focuses on personal/social and language domains; not important for myopathies

21
Q

Weakness vs Hypotonia

A

weakness - decreased ability to voluntarily and actively move muscles against resistance

hypotonia - decreased muscles tone

22
Q

Duchenne Muscular Dystrophy (DMD)

A

most common severe childhood form of MD; x-linked (frameshift mut for absent or dysfxnal dystrophin gene); proximal muscle weakness, delayed walking difficulty running, Gower’s sign present; progresses rapidly; life expectancy is late teens; CK is elevated; tx with steroids

23
Q

the most common severe childhood form of muscular dystrophy?

A

Duchenne Muscular Dystrophy (DMD)

24
Q

Becker Muscular Dystrophy (BMD)

A

less severe form of DMD; x linked with in-frame mut of dystrophin gene; proximal muscle weakness, neck flexor strength is preserved (contrast from DMD), independent walking until late teens; life expectancy in 4th decade, CK elevated and tx with steroids

25
Q

What is a positive Gower sign indicative of?

A

clinically a sign of severe proximal muscle weakness

26
Q

Congenital muscular dystrophy (CMD)

A

AR mut in structural proteins of ECM; present at birth or in early infancy; hypotonia, severe symmetric proximal muscle weakness; joint contractures present, may have other malformations involving the eyes, brain or heart

27
Q

Dystrophy associated with an autosomal recessive mutation in structural proteins of extracellular matrix?

A

Congenital muscular dystrophy (CMD)

28
Q

Pompe disease

A

a AR glycogen storage disease; alpha-glucosidase mutation; build up of glycogen in lysosomes generalized weakness and hypotonia; cardiac failure by 18 months, respiratory issues and feeding difficulties; enzyme therapy is available

29
Q

a AR glycogen storage disease; alpha-glucosidase mutation; build up of glycogen in lysosomes generalized weakness and hypotonia; cardiac failure by 18 months, respiratory issues and feeding difficulties

A

Pompe disease

30
Q

Juvenile dermatomyositis (JDM)

A

most common acquired idiopathic myopathy in children; systemic and autoimmune (cellular or humoral); onset at 7 yrs; proximal muscle weakness, heliotrope rash with periorbital edema, Gottron’s papule and thrombi or hemorrhage in peri-fungal beds

31
Q

Pathology characterized by proximal muscle weakness, heliotrope rash with periorbital edema, Gottron’s papule and thrombi or hemorrhage in peri-fungal beds?

A

Juvenile dermatomyositis (JDM);most common acquired idiopathic myopathy in children

32
Q

Clinical significance of elevated creatinine kinase (CK)?

A

indicator of muscle damage; highest in skeletal muscle

33
Q

Clinical significance of gamma glutamyl transferase (GGT)?

A

GGT is in many organs, but present in a high concentration in the liver; if elevated think liver; if normal think muscle

34
Q

If gamma glutamyl transferase (GGT) is elevated, which organ should you suspect for damage?

A

liver; if normal think muscle