Week 4.1 Genetic Disorders Flashcards
What is the role of a PT when working with a child with genetic disorders?
- 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.
describe the characteristics of Down syndrome
smaller mouths, flat nose, wide eyes, shorter limbs, low set ears
describe the associated dysmorphisms associated with:
- structural brain
- cranial
- scalp and facial hair
- facial features
- eye/orbit
- microcephaly
- flat occiput
- post-parietal hard whirl and peak
- flat facial features
- epicanthal folds
describe the associated dysmorphisms associated with:
- nasal abnormalities
- maxillary/mandibular abnormalities
- mouth and oral
- external ears
- neck
- flat nose
- small mouth with a high palate
- low set ears
- short and webbed neck
describe the associated dysmorphisms associated with:
- skeletal abnormalities
- limb/joint
- hematology/oncolgy
- growth
- scoliosis
- short digits and short limbs
- anemia
- obesity
how may pairs of chromosomes do we have
23, but 22 of them are autosomes, and 1 is the sex chromosome of X,Y
what is a chromosome made up of
DNA
what is a gene
a length of DNA that codes for proteins
what is a single point mutation
one base pair is substituted for another
what is a gain in function mutation
over expression
what is a loss of function mutation
gene loses its expression
what is a somatic mosaicism
mutation after conception, where only some body cells are affected. MILD PRESENTATION
germline mosaicism
you don’t express mutation, but you can pass it to your offspring in your somatic cells.
what is the leading cause of pregnancy loss
genetic disorders, 50% first trimester and 20% 2nd.
Down syndrome is a Trisomy ___
21, meaning the 21st pair has 3
DS is attributed to the
mother, and her age. The older, the more likely to have DS
Impairments of DS
diastasis recti, joint hyper mobility, hypotonia, AA instability, mild microcephaly, intellectual disabilities, developmental delay
how do GM milestones happen in kids
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)
what is trisomy 18
Edward’s syndrome
describe how a baby born with Edward’s will look
high tone, fisted hand, 2nd and 3rd fingers crossed
do babies with Edward’s live long
no usually within a year they die, or they are miscarried or stillborn. medical survival is 2 weeks
examples of chromosomal deletions
cir-du-chat
18p-syndrome
examples of chromosomal microdeletions
Prader -Willi
Angelman
Williams
sex linked disorders
DMD hemophilia A Lesch -Nyhan Fragile X Rhett
