Week 4.1 Genetic Disorders

Question 1

What is the role of a PT when working with a child with genetic disorders?

Answer 1

• find out about family history
• physical dysmorphisms (like things we see in genetic syndromes)
• anatomical and physiological abnormalities
• neuromotor assessment to look at weakness, control, coordination.

Question 2

describe the characteristics of Down syndrome

Answer 2

smaller mouths, flat nose, wide eyes, shorter limbs, low set ears

Question 3

describe the associated dysmorphisms associated with:

• structural brain
• cranial
• scalp and facial hair
• facial features
• eye/orbit

Answer 3

• microcephaly
• flat occiput
• post-parietal hard whirl and peak
• flat facial features
• epicanthal folds

Question 4

describe the associated dysmorphisms associated with:

• nasal abnormalities
• maxillary/mandibular abnormalities
• mouth and oral
• external ears
• neck

Answer 4

• flat nose
• small mouth with a high palate
• low set ears
• short and webbed neck

Question 5

describe the associated dysmorphisms associated with:

• skeletal abnormalities
• limb/joint
• hematology/oncolgy
• growth

Answer 5

• scoliosis
• short digits and short limbs
• anemia
• obesity

Question 6

how may pairs of chromosomes do we have

Answer 6

23, but 22 of them are autosomes, and 1 is the sex chromosome of X,Y

Question 7

what is a chromosome made up of

Answer 7

DNA

Question 8

what is a gene

Answer 8

a length of DNA that codes for proteins

Question 9

what is a single point mutation

Answer 9

one base pair is substituted for another

Question 10

what is a gain in function mutation

Answer 10

over expression

Question 11

what is a loss of function mutation

Answer 11

gene loses its expression

Question 12

what is a somatic mosaicism

Answer 12

mutation after conception, where only some body cells are affected. MILD PRESENTATION

Question 13

germline mosaicism

Answer 13

you don’t express mutation, but you can pass it to your offspring in your somatic cells.

Question 14

what is the leading cause of pregnancy loss

Answer 14

genetic disorders, 50% first trimester and 20% 2nd.

Question 15

Down syndrome is a Trisomy ___

Answer 15

21, meaning the 21st pair has 3

Question 16

DS is attributed to the

Answer 16

mother, and her age. The older, the more likely to have DS

Question 17

Impairments of DS

Answer 17

diastasis recti, joint hyper mobility, hypotonia, AA instability, mild microcephaly, intellectual disabilities, developmental delay

Question 18

how do GM milestones happen in kids

Answer 18

they are delayed, usually by twice as long. Example: sitting alone happens at 11 months (vs. 6 months), and standing happens at 21 month (10-12 normally)

Question 19

what is trisomy 18

Answer 19

Edward’s syndrome

Question 20

describe how a baby born with Edward’s will look

Answer 20

high tone, fisted hand, 2nd and 3rd fingers crossed

Question 21

do babies with Edward’s live long

Answer 21

no usually within a year they die, or they are miscarried or stillborn. medical survival is 2 weeks

Question 22

examples of chromosomal deletions

Answer 22

cir-du-chat

18p-syndrome

Question 23

examples of chromosomal microdeletions

Answer 23

Prader -Willi
Angelman
Williams

Question 24

sex linked disorders

Answer 24

DMD 
hemophilia A 
Lesch -Nyhan 
Fragile X 
Rhett