Ped Neuro Rehab Exam 2- Lecture Three (Ds)

Front 1

Down syndrome is caused by a genetic chromosomal defect, what types of defects are possible?

Back 1

Trisomy 21 (nondisjunction)
Translocation
Mosaicism

Front 2

Trisomy 21 (nondisjunction)

Back 2

embryo has three number 21 chromosomes instead of two

Front 3

Translocation

Back 3

part of the number 21 chromosome breaks off and attaches to another chromosome

Front 4

Mosaicism

Back 4

extra chromosome 21 is present in some, but not all, cells of the individual.

Front 5

DS effects about ___ in every ___ live births

Back 5

1 in 800

Front 6

__% are trisomy 21
__% are translocation
__% are mosaicism

Back 6

95
4
1

Front 7

__% of children born with DS are born to women younger than 35.

Back 7

80

Front 8

Incidence of births of children with DS ______ with the age of the mother.

Back 8

increases

Front 9

DS Screening tests (don't accurately confirm diagnosis)

Back 9

"triple screen"

sonogram/ultrasound

Front 10

Triple screen

Back 10

combination of three tests that measure quantities of substances in the blood. Usually done between 15-20 weeks gestation.

Front 11

Sonograms/ultrasounds in DS

Back 11

Usually performed in conjunction with other screenings. Show some physical traits helpful in calculating the risk of DS.

Front 12

Diagnostic tests for DS

Back 12

Amniocentesis performed between 12-20 weeks gestation.

Chorionic villus sampling (CVS) between 8-12 weeks.

Percutaneous Umbilical Blood Sampling (PUBS) after 20 weeks

Front 13

Physical characteristics in DS

Back 13

Hypotonia
Hyperextensibility
Epicanthal folds (slanting eyes with folds of skin at the inner corners)

Small head, short, low-set ears, short neck, flat bridge of nose.

Short, broad hands with a single crease across palm of one or both hands.

Broad feet w/ short toes.
Small oral cavity

Front 14

Other medical conditions:

Back 14

Heart
GI
Atlantoaxial instability
Thyroid
Vision
Hearing
Seizures
Alzheimer's disease

Front 15

Heart problems and DS

Back 15

Congenital cardiac defects occur in 50%.

AV canal defect, ventricular septal defect, or tetralogy of Fallot.

ECG diagnosis within 1st 2 months is critically. Usually surgically corrected.

Front 16

GI problems and DS

Back 16

Esophageal atresia, pyloric stenosis, duodenal atresia, GERD, and constipation

Front 17

Atlantoaxial joint instability occurs in __%.

Back 17

10-30

Front 18

__% of children, __% of adults with DS have thyroid disease.

Back 18

10; 13-50

Front 19

Hypothyroidism

Back 19

Under-functioning thyroid gland. Most common in DS.

Front 20

Far sightedness

Back 20

40% of kids in preschool

Front 21

Near sightedness

Back 21

14% of kids in preschool

Front 22

Astigmatism

Back 22

Image distortion
30% of kids in preschool

Front 23

Nystagmus

Back 23

Small jerky movements
10% of kids in preschool

Front 24

Hearing issues:

Back 24

otitis media
sinusitis
pharyngitis
Possible hearing loss due to frequent ear infections, small ear canals, or sensorineural hearing loss.

Front 25

Seizures

Back 25

equally common in child with DS as the general population.

After age 20, incidence of seizures increases. Can be controlled by anticonvulsant medication.

Front 26

Alzheimer's

Back 26

25% or more individuals with DS over age 35 show S&S of Alzheimer's type dementia. This increases with age.

Beginning at 30, individuals with DS should have a reading skill test performed for baseline measure.

Front 27

Average life expectancy

Back 27

60 years

Front 28

Chances of their children getting DS:

Back 28

Women- 50% chance
Men usually sterile

Front 29

Age to sit alone

Back 29

6-30 months

Front 30

Age to crawl

Back 30

8-22 months

Front 31

Stand

Back 31

1-3.5 years

Front 32

Walk alone

Back 32

1-4 years

Front 33

Finger feed self

Back 33

10-24 months (typical 7-14)

Front 34

Drink from cup unassisted

Back 34

12-32 months (typical 9-17)

Front 35

Use spoon

Back 35

13-39 months (typical 12-20)

Front 36

Bowel control

Back 36

2-7 years (typical 16-42 months)

Front 37

Dress unassisted

Back 37

3.5-8.5 years (typical 3.25-3.5)

Front 38

Social-emotional issues with age

Back 38

depression
low self-esteem

Children realize skills are difficult or don't understand social context of events.

Front 39

Cognition

Back 39

Mild (IQ 50-70) to moderate (IQ 35-50) intellectual disability.

Trouble integrating and processing info sequentially impacting short-term memory.

Trouble w/ sequential thinking and problem solving.

Difficulty with abstract concepts

Use self-talk to help coordinate actions and thoughts.

Front 40

First words

Back 40

1-3 years (typical 1-2)

Front 41

2-word phrases

Back 41

2-7.5 years (typical 15-32 months)

Front 42

Which comes first: speech production or comprehension?

Back 42

Speech production is behind comprehension. Kids have trouble producing clear words and sentences.

Front 43

Grammar skills are hard to master which results in:

Back 43

telegraphic speech- Me sit in chair rather than I will sit in the chair.

Front 44

Factors influencing language development

Back 44

Increased incidence of middle ear infections.

Difficulty coordinating muscles in the mouth required for speech production. Includes respiration, phonation, and articulation of the palate, tongue, lips, and jaw.

Front 45

Intervention

Back 45

Anticipatory guidance for parents
Include in typically occurring activities.
Participation in age appropriate activities.
Skill acquisition (developmental milestones)
Mobility
Self-care
Decision making
Social interaction w/ verbal and nonverbal communication.
Appropriate verbal expression
Eye-hand and eye-foot coordination
Inclusion in all play (aggressive play-caution)
Understanding cause and effect relationships.
Active exercise