Development Flashcards

1
Q

What is silver russell syndrome

A

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

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2
Q

What is Beckwith-Wiedemann syndrome

A
Dysregulation of imprinting control regions on chromosome 11
Overgrowth
Cancer predisposition
Macrosomia
Macroglossia
Acelerated bone age
Enlargement of kidneys
Increased incidence in IVF conceptions
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3
Q

What is ectrodactyly ecteroderam dysplasia

A

P63 - problem with formaiton of ectodermal dependent layers

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4
Q

What is Grieg syndrome

A

GLI3 - physical abnormalities affecting fingers and toes

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5
Q

What is Apert syndrome

A

FGFR2 - preamture fusion of certain bones

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6
Q

What are the signs for Down’s

A

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

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7
Q

What are the signs of Edward

A

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

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8
Q

What are the signs of Patau

A

Cleft lip, holoprocencephaly, postaxial polydactyly

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9
Q

What is Williams Syndrome

A

Del17q11
Mild-moderate developmental disorder
heart and blood vessel problems

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10
Q

What is Noonan syndrome

A

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

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11
Q

What are examples of X linked recessive

A

1 in 2 risk for male
Haemophilia
Duchenne musuclar dystrophy

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12
Q

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

A

80%

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13
Q

What is alpha foeto protein used for

A

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

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14
Q

What are the US signs of spina bifida

A

Lemon sign, banana sign

Difficult to visualise until 16-22 weeks

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15
Q

Describe amniocentesis

A

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

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16
Q

Describe chorionic villus sampling

A

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

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17
Q

What are the two major processes of brain development

A

Process of addition: myelination and dendritic aborisation

Process of regression: elinmination of redudant elements

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18
Q

What are the four domains of child development

A

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

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19
Q

What happens in infancy

A

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

20
Q

What happens in early childhood

A

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

21
Q

What happens in middle childhood

A

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

22
Q

What happens in adolescence

A

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

23
Q

When are children learning about 3 new words a month

A

12-18 months

24
Q

How many words do infants know at 18

A

22

25
Q

How many words do children know at 6

A

10,000 - 5 new words a day

26
Q

When do infants learn their first words

A

9-13 months

27
Q

When do babies demonstrate a preferene for faces

A

4-5 months

28
Q

When do children develop appropriate selective attention

A

6 years

29
Q

What are the 4 concepts of the Piaget model

A

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

30
Q

What happens in stage 1 of the Piaget model

A

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

31
Q

What happens in stage 2 of the Piaget model

A

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

32
Q

What happens in stage 3 of the Piaget model

A

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

33
Q

What happens in stage 4 of the Piaget model

A

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

34
Q

When do children develop separation anxiety

A

8 months

35
Q

When do children develop social referencing

A

10 months

36
Q

When does the need for physical proximity lessen

A

2-4 years

37
Q

When is mum’s availablity enough

A

6-7 years

38
Q

When is the peak of attachment period

A

11-18 months

39
Q

When can a child reach out for toys

A

4 months

40
Q

When can a child use palmar grasp

A

6 months

41
Q

When can a child use pincer grasp

A

10 months

42
Q

When can a child do to and fro scribbles

A

15 months

43
Q

When can a child draw a circle

A

3 years

44
Q

When can a child draw a square

A

4 years

45
Q

When can a child draw a triangle

A

5 years

46
Q

When can a child share toys

A

3 years