Development

Question 1

What is silver russell syndrome

Answer 1

Affects chromosome 7 and 11
Prenatal and postnatal growth retardation
Characteristic facial appearance: small triangular face
Small incurved fifth fingers

Question 2

What is Beckwith-Wiedemann syndrome

Answer 2

Dysregulation of imprinting control regions on chromosome 11
Overgrowth
Cancer predisposition
Macrosomia
Macroglossia
Acelerated bone age
Enlargement of kidneys
Increased incidence in IVF conceptions

Question 3

What is ectrodactyly ecteroderam dysplasia

Answer 3

P63 - problem with formaiton of ectodermal dependent layers

Question 4

What is Grieg syndrome

Answer 4

GLI3 - physical abnormalities affecting fingers and toes

Question 5

What is Apert syndrome

Answer 5

FGFR2 - preamture fusion of certain bones

Question 6

What are the signs for Down’s

Answer 6

Flat nasal bridge, up slanting palpebrral fissure, epicanthic folds, protruding tongue, single palmer crease

Question 7

What are the signs of Edward

Answer 7

Micrognathia, prominet occiput, clenched overlapping fingers, prominent heel and rocker bottom feet

Question 8

What are the signs of Patau

Answer 8

Cleft lip, holoprocencephaly, postaxial polydactyly

Question 9

What is Williams Syndrome

Answer 9

Del17q11
Mild-moderate developmental disorder
heart and blood vessel problems

Question 10

What is Noonan syndrome

Answer 10

Autosomal dominant - caused by mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway
Short stature
Wide neck
Heart defect

Question 11

What are examples of X linked recessive

Answer 11

1 in 2 risk for male
Haemophilia
Duchenne musuclar dystrophy

Question 12

What is the risk for abnormality with nuchal translucency thickness over 5.5mm

Answer 12

80%

Question 13

What is alpha foeto protein used for

Answer 13

Severity of neural tube defect
AFP reaches maternal serum across placenta
Levels change with gestation (lwoer in 2nd than 1st trimester)

Question 14

What are the US signs of spina bifida

Answer 14

Lemon sign, banana sign

Difficult to visualise until 16-22 weeks

Question 15

Describe amniocentesis

Answer 15

16 weeks gestation
10-20 mls of amntioic fluid transabdo udner USS
Cells from amnion, foetal skin, urinary tract
Cultured for 2 weeks
0.5% miscarriage

Question 16

Describe chorionic villus sampling

Answer 16

After 11 weeks. chromosome analysis within 24 hours. 1-2 risk miscarriage

Question 17

What are the two major processes of brain development

Answer 17

Process of addition: myelination and dendritic aborisation

Process of regression: elinmination of redudant elements

Question 18

What are the four domains of child development

Answer 18

Gross motor
Fine motor and vision
Hearing and language
Social and emotional

Question 19

What happens in infancy

Answer 19

Attachment, maturation of sensory, perceptual and motor functions and understand obejct through sense

Question 20

What happens in early childhood

Answer 20

Locomotion, fantasy play, language development, sex role identification and group play

Question 21

What happens in middle childhood

Answer 21

Friendship, skill learning, self-evaluation, team play, udnerstand cause and effect

Question 22

What happens in adolescence

Answer 22

Physical maturation, emotional development, peer group and sexual relationships, understand abstract thinking

Question 23

When are children learning about 3 new words a month

Answer 23

12-18 months

Question 24

How many words do infants know at 18

Answer 24

22

Question 25

How many words do children know at 6

Answer 25

10,000 - 5 new words a day

Question 26

When do infants learn their first words

Answer 26

9-13 months

Question 27

When do babies demonstrate a preferene for faces

Answer 27

4-5 months

Question 28

When do children develop appropriate selective attention

Answer 28

6 years

Question 29

What are the 4 concepts of the Piaget model

Answer 29

Scheme - an internal cognitive structure which provides the procedure to use in specific circumstances Assimilation - a process of using a scheme to make sense of event or experience Accommodation - changing scheme as result of new information Equilibration - a process of balancing assimilation and accommodation to create scheme that fit environment

Question 30

What happens in stage 1 of the Piaget model

Answer 30

Sensorimotor (0-2 years) Inital reflexes via sensory motor schema Child interacts with environment and manipulates objects Understanding of object permanence

Question 31

What happens in stage 2 of the Piaget model

Answer 31

Preoperational (2-7 years) Internal represenation of concrete objects and situations Ego centric Reasoning dominated by perception

Question 32

What happens in stage 3 of the Piaget model

Answer 32

Concrete oeprations (6-11) Reasoning invovles more than one salient feature (conservation) Logcal reasoning can only be applied to objects that are real or can be seen

Question 33

What happens in stage 4 of the Piaget model

Answer 33

Formal operations (11+) Can think logically about potential events or abstract ideas Can test hypotheses about hyptohetcial events

Question 34

When do children develop separation anxiety

Answer 34

8 months

Question 35

When do children develop social referencing

Answer 35

10 months

Question 36

When does the need for physical proximity lessen

Answer 36

2-4 years

Question 37

When is mum's availablity enough

Answer 37

6-7 years

Question 38

When is the peak of attachment period

Answer 38

11-18 months

Question 39

When can a child reach out for toys

Answer 39

4 months

Question 40

When can a child use palmar grasp

Answer 40

6 months

Question 41

When can a child use pincer grasp

Answer 41

10 months

Question 42

When can a child do to and fro scribbles

Answer 42

15 months

Question 43

When can a child draw a circle

Answer 43

3 years

Question 44

When can a child draw a square

Answer 44

4 years

Question 45

When can a child draw a triangle

Answer 45

5 years

Question 46

When can a child share toys

Answer 46

3 years