Pediatric Myopathies (Newman)

Question 1

How often is a developmental screening performed?

Answer 1

at every child visit

Question 2

What are the 4 domains of pediatric development?

Answer 2

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

Question 3

briefly define gross motor

Answer 3

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

Question 4

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

Answer 4

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

Question 5

briefly define fine motor

Answer 5

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

Question 6

briefly define language

Answer 6

receptive; understanding
expressive; talking
verbal and nonverbal communication

Question 7

Why is early intervention in children with developmental delays important

Answer 7

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

Question 8

Significance of developmental regression in a child

Answer 8

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

Question 9

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

Answer 9

2 months

Question 10

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

Answer 10

4 months

Question 11

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

Answer 11

6 months

Question 12

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

Answer 12

9 month

Question 13

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

Answer 13

12 months

Question 14

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

Answer 14

2 years

Question 15

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

Answer 15

3 years

Question 16

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

Answer 16

3 years

Question 17

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

Answer 17

4 years

Question 18

DDST-II

Answer 18

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

Question 19

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

Answer 19

DDST-II; Denver Developmental Screening Test

Question 20

M-CHAT-R

Answer 20

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

Question 21

Weakness vs Hypotonia

Answer 21

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

hypotonia - decreased muscles tone

Question 22

Duchenne Muscular Dystrophy (DMD)

Answer 22

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

Question 23

the most common severe childhood form of muscular dystrophy?

Answer 23

Duchenne Muscular Dystrophy (DMD)

Question 24

Becker Muscular Dystrophy (BMD)

Answer 24

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

Question 25

What is a positive Gower sign indicative of?

Answer 25

clinically a sign of severe proximal muscle weakness

Question 26

Congenital muscular dystrophy (CMD)

Answer 26

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

Question 27

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

Answer 27

Congenital muscular dystrophy (CMD)

Question 28

Pompe disease

Answer 28

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

Question 29

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

Answer 29

Pompe disease

Question 30

Juvenile dermatomyositis (JDM)

Answer 30

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

Question 31

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

Answer 31

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

Question 32

Clinical significance of elevated creatinine kinase (CK)?

Answer 32

indicator of muscle damage; highest in skeletal muscle

Question 33

Clinical significance of gamma glutamyl transferase (GGT)?

Answer 33

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

Question 34

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

Answer 34

liver; if normal think muscle