Pediatric Neuromuscular disorders

Question 1

How do you screen for weakness in a child from 0-6 months and what are the red flags?

Answer 1

pull to sit-> head lag at 5 months
breathing-> sternal retraction, paradoxical or abdominal breathing, accessory mm, increased work

Question 2

How do you screen for weakness in a child from 6-12 months and what are the red flags?

Answer 2

sitting-> unable to sit independently at 7 months
prone to sit-> get into sitting independently by 9 months

Question 3

How do you screen for weakness in 12-18 months and what are the red flags?

Answer 3

floor to stand-> unable to rise from floor without support by 18 months
walking-> unable to walk by 18 months

Question 4

How do you screen for weakness in a child older than 18 months and what are the red flags?

Answer 4

running-> unable to run with both feet off the floor by 24 months
jumping-> unable to jump with both feet by 2.5 years, or unable to hop on 1 foot by 4 years

Question 5

How do you screen for weakness in a child that is older than 2 years old?

Answer 5

stair climbing-> use handrail to pull self up stairs using hand over hand, unable to climb stairs with reciprocal pattern by 3.5 years

Question 6

What type of testing would you do for a child that is showing unexplained gross motor delay, loss of motor milestones, signs of mm weakness?

Answer 6

creatine kinase testing

Question 7

What would a mildly elevated CK (180-3,000) indicate, how about a significantly elevated CK (3,000-30,000)?

Answer 7

mild would indicate more SMA, neuropathy or congenital myopathy while significant would indicate DMD, BMD, congenital MD, or LGMD

Question 8

T/F, SMA is an autosomal dominant pathology

Answer 8

false, it is autosomal recessive

Question 9

What protein is insufficient in SMA?

Answer 9

SMN, which causes decreased signal from CNS to mm which leads to mm atrophy

Question 10

What is the most common type of SMA (60%) and what is the life expectancy?

Answer 10

Type 1, less than 2 years

Question 11

What are the new categories for SMA?

Answer 11

non-sitters, sitters, walkers

Question 12

What outcome measures could you use on a SMA non-sitter?

Answer 12

HINE-2, CHOP INTEND

Question 13

What outcome measures could you use on a SMA sitter?

Answer 13

HFMSE, MFM, RULM, TFTs

Question 14

What outcome measures could you use on a SMA walker?

Answer 14

HFMSE, MFM, RULM, TFTs, 6MWT

Question 15

T/F, SMA drugs have been clinically tested and found to help with survival rates and improvement of gross motor skills and developmental skills

Answer 15

true, SMA has had very good results in clinical trials

Question 16

t/f, strengthening is contraindicated in a child with SMA

Answer 16

false, it is not contraindicated in SMA

Question 17

What are the primary goals in treating a child non sitter with SMA?

Answer 17

optimize function, minimize impairment, and optimize tolerance to positions

Question 18

What are the primary goals in treating a child sitter with SMA

Answer 18

prevent contractures and scoliosis, maintain, restore and promote function and mobility

Question 19

What are the primary goals in treating a child who is a walker with SMA?

Answer 19

maintain, restore, or promote function, mobility and adequate joint range and improve balance and endurance

Question 20

T/f, Duchenne and Becker MD are both x linked recessive pathologies

Answer 20

true, most common lethal childhood disease with mom as the carrier

Question 21

What are some differences between Duchenne’s and Beckers?

Answer 21

DMD has an earlier onset (3-5yrs) and shorter life expectancy (mid 20s) vs. Beckers (5-15 onset, mid 60s)

DMD affects neck, shld, trunk, posterior LE
Becker affects: post neck, trunk and ant thigh

Question 22

t/f, DMD pathology includes a chronic inflammatory state that leads to fibrosis and mm stiffness

Answer 22

true, and this increased oxidative stress can also lead to recurrent ischemia

Question 23

What are some objective findings of a child with DMD?

Answer 23

hypotonia, enlarged calf, weakness in neck flexors, abdominals, interscapulars, hip extensors, tightness in gastroc/soleus, lordosis, scapula wining and equinus

Question 24

t/f, a child with DMD will be able to run normally

Answer 24

false, most never have a true running pattern and instead have a “Duchenne Jog”

Question 25

T/F, you don’t have to work on respiratory exercises for children with DMD

Answer 25

false, they have progressive weakness and need to work on respiration

Question 26

What outcome measure is specific to DMD, how about for ambulatory boys with DMD?

Answer 26

vignos lower extremity scale, North Star ambulatory assessment

Question 27

What are some of the main goals in therapy for a child with DMD?

Answer 27

managing contractures and working on stretching, positioning, breathing exercises

Question 28

t/f, you can do resistance activities with a child with DMD

Answer 28

FALSE, strongly contraindicated-> includes stairs, running and jumping as well

Question 29

What other modes of exercise are good for a child with DMD?

Answer 29

swimming and cycling