6.1 Down syndrome, Cerebral Palsy

Question 1

Teratogenic agents

Answer 1

胎兒畸形物質

Question 2

Factors of congenital defects

Answer 2

• environmental factors:
  teratogenic agents
• genetic factors:
  chromosomal disorders

Question 3

DS

Answer 3

Down syndrome

Question 4

Children of DS share _______

Answer 4

Similar physical and facial features

Question 5

DS is the most common chromosomal abnormalities and genetic problem which cause:

Answer 5

Mental retardation

Question 6

Name extra chromosome 21

Answer 6

Trisomy 21

Question 7

Classify DS

Answer 7

1. Trisomy 21: total 47 chromosome (extra copy of chromosome 21)
2. Translocation: no.= 46,
   21 break off and attach to another
3. Mosaicism: some cell 46, some 47

Question 8

UGS: measurement of NT

Answer 8

Nuchal translucency 頸後半透明帶

Question 9

Normal NT
Perform at ___

Answer 9

<3.5mm
Week 11-13

Question 10

Biochemical (blood lab) studies for DS
Result

Answer 10

PAPP-A: lower than normal
Free beta-hCG: elevate

Question 11

OSCAR screening program

Answer 11

唐氏綜合症篩查

Question 12

If Gestational adjusted risk ____,
high risk for ____,
Consider____

Answer 12

> 1:180
Trisomy 21
Invasive diagnostic procedures eg. Amniocentesis and chorionic villus sampling

Question 13

Abortion before ____ is legal in HK

Answer 13

24 weeks

Question 14

Age that increase risk for chromosome problem

Answer 14

> 35
45 (1:25)

Question 15

Clinical manifestations of DS
- Head, nose, ear, eye, mouth and tongue, palmar, hands, toes, muscle, heights

Answer 15

• small round Head,
• flat nasal bridge,
• small small set ear,
• upward and outward eye
• open mouth and large protrude tongue
• transverse palmar crease 斷掌
• short board hands with short fingers
• excessive space between large and second toes
• muscle hypotonia
• short stature矮

Question 16

DS:
Female vs male sexual development

Answer 16

Female: fertile
Male: infertile

Question 17

Multisystem disorder for DS

Question 18

DS: goals of therapy

Answer 18

1. Prevent complications
2. Ensure do not contribute further developmental delays
3. Appropriate education and opportunities for development

Question 19

Nursing management after birth

Answer 19

• Explain hypotonicity, difficulty in holding infant
• Prevent URTI, feeding problem, constipation
• Refer to early education and training centres (EETC)
• Facilities family coping

Question 20

CP

Answer 20

Cerebral palsy

Question 21

Characteristic of CP
Primary signs

Answer 21

A neuromotor disorder cause
- abnormal muscle tone, posture and movement

Primary signs: spasticity, muscle weakness, ataxia

Question 22

CP is the most common cause of ___

Answer 22

Permanent physical disability

Question 23

Preterm =
Low weight =

Answer 23

<37weeks
<2.5kg

Question 24

Subtype of CP

Answer 24

1. Spastic: hypertonicity of muscle —> contracture
2. Dyskinetic: variation in muscle tone and involuntary movements
3. Ataxic
4. Mixed

Question 25

Spastic CP further divide into

Answer 25

- normal cognitive function + good prognosis for independent ambulation 1. Spastic hemiplegia 2. Spastic diplegia - functional + cognitive impairment 3. Spastic quadriplegia

Question 26

Common clinical manifestations of CP

Answer 26

Persistent use of infantile reflexes Delay gross motor development Poor coordination Alteration in muscle tone and distribution of gait

Question 27

Early warning sign of CP (3-6 months)

Answer 27

Head lag Stiff or rigid arms legs Floppy Overextended neck and back

Question 28

Early warning sign of CP (>6 months)

Answer 28

Cannot rolling over Unable bring hand tgt Difficult bring hand to mouth Cannot sit up without support

Question 29

Early warning sign of CP (10 months)

Answer 29

Cannot crawl Unable stand without support

Question 30

Early warning sign of CP (behaviour sign)

Answer 30

Extreme irritability or crying Failure to smile by 3 months Feeding difficulties Persistent gagging choking Tongue push soft food out of

Question 31

CP: Goal of therapeutic treatment

Answer 31

Gain optimal development and function within limit

Question 32

CP: physiothrapy

Answer 32

Prevent or reduce joint contractures Intensive therapy training programs

Question 33

CP: OT

Answer 33

Prevent deformity, promote self care by providing adaptive equipment, promoting improvement in fine motor functioning Ankle-foot orthosis (AFO) to prevent foot drop

Question 34

CP: surgical management

Answer 34

Tenotomy Adductor Myotomy