L13: Down Syndrome Flashcards
Down Syndrome Etiology
- Indiv has full or partial copy of Chromosome 21
3 types of Down Syndrome
- Trisomy 21==MOST COMMON (~95%)
- Mosaicism
- Translocation
DS is the ______ genetic condition
MOST COMMON
Incidence of DS
- MOST Common genetic condition
- Women >35yo == inc chance of having child w/ DS
Dx of DS
-
Prenatally:
- Screening methods→ Bloodwork, US
-
Diagnostics→ CVS, amniocentesis
- 100% accurate***
-
Diagnostics→ CVS, amniocentesis
- Screening methods→ Bloodwork, US
-
Postnatally:
- @ birth via characteristics and blood work
Prognosis/Outcomes of DS
- Cog. delays (IQ= 20-60)
- Life expect raised ~60yo
- Ortho comps may arise
-
Good outcomes:
- quality edu. programs
- good health care
- positive support
Stereotypical features of DS
Distinct facial appearance
- flattened face, small head/neck/mouth/teeth/ears, protruding tongue, upward slanting eyes, flattened nose, oddly shaped ears, short hands/fingers w/ single crease in palm, large space bw 1st and 2nd toe**
- Changes in course of development
Changes in course of development of DS
see pics
NOTE: 6wks→3mos== Critical stage**
Common Co-Morbs of DS
MOST COMMON?
- Congenital heart defects→ Septal defects most common****
Common Co-Morbs of DS
- Congenital heart defects→ Septal defect most common**
- Hearing impairments: mild-mod loss of hearing
- Resp conditions
- Esp <5yrs→ RSD, common cold can lead to PNA
- Childhood leukemia→ 20x greater likelihood
- Thyroid conds, cataracts, obesity >5yrs most children overwt.
Clinical Presentation
What sticks out the MOST??
EXCESSIVE HYPOTONIA
CLINICAL PRESENTATION
- Excessive hypOtonia***
- ligamentous laxity
- hypERflex
- Poor oral motor control== drooling
Explain HypOtonia further…
Same strength, BUT takes more TIME and FORCE to achieve same mvmt or activity
Another important Clinical presentation…
Fixing/Stacking Tendencies
Explain
- often rely on widening BOS
Hypotonia DOES NOT EQUAL
WEAKNESS
Additional Clinical Presentation DS
- Dec desire to WB
- Dec ecc control (poor strength)
- Dec body awareness→ low mm tone + poor mm tone receptor
- **floppy rubberband
- Poor MSK align.
*ALL IMPAIRS LEAD TO GLOBAL DELAYS
GLOBAL DEVELOPMENTAL DELAYS
Gross Motor Skill Delays
-
Most prominent: <24mos and up thru age 5
- Huge BOOM of activity once walking
- Will take ~2x the time of typ. child to accomplish same task
- i.e. sitting by 6mos neurotypical== sitting by 12mos for child w/ DS
Global Delays of Development
Cognitive + Communication
- Cog + communication delays
- hearing probs
- mouth/tongue hypOtonia
- Sign Language== initial means of communication****
Role of PT in DS
Most prominent when?
Most prominent in early childhood w/ a great deal of therapies occurring before age 3