Development

Question 1

What skills develop as children grow up?

Answer 1

1. Motor
2. Perceptual
3. Language
4. Cognitive
5. Social

Question 2

In neurological development, what is the process of addition?

Answer 2

Ongoing accumulation or growth (myelination and dendritic aborisation)

Question 3

In neurological development, what is the process of regression?

Answer 3

Initial overproduction followed by elimination of redundant elements such as neurons and synapses

Question 4

What are causes of atypical development?

Answer 4

1. Antenatal exposure to teratogens, drugs or alcohol
2. Poor maternal health
3. Child abuse or neglect
4. Genetic factors
5. Nutrition
6. Perinatal complications
7. Infections
8. Unknown

Question 5

What are the 4 types of abuse?

Answer 5

1. Psychological
2. Physical
3. Sexual
4. Neglect

Question 6

What are the four developmental domains?

Answer 6

1. Gross motor
2. Fine motor and vision
3. Hearing and language
4. Social and emotional

Question 7

In what five steps does language develop?

Answer 7

1. Preverbal communication
2. Phonological development
3. Semantic development
4. Syntax and grammar development
5. Pragmatics development

Question 8

When do babies often say their first word?

Answer 8

9-13 months

Question 9

How many new words are babies learning at 12-18 months?

Answer 9

3 per month

Question 10

How many words does an infant know at 18 months?

Answer 10

22

Question 11

How many words does a baby learn per week after 18 months?

Answer 11

10-20 per week

Question 12

What s the vocabulary range at age 6?

Answer 12

10000 words

Question 13

What are the 4 stages of child development?

Answer 13

1. Infancy (0-2): attachment, maturation of sensory, perceptual & motor functions & understand objects through senses
2. Early childhood (2-6) - locomotion, fantasy play, language
   development, sex role identification & group play
3. Middle childhood (6-12) - friendship, skill learning, self-evaluation,
   team play, understand cause & effect & conservation
4. Adolescence (12-18) - physical maturation, emotional development, peer group & sexual relationships, understand abstract thinking

Question 14

What are, according to Piaget, the 4 concepts of learning how to think?

Answer 14

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

Question 15

What are, according to Piaget, the 4 stages of learning how to think?

Answer 15

1. Sensorimotor
2. Preoperational
3. Concrete operations
4. Formal operations

Question 16

What is the epigenetic mechanism?

Answer 16

Changes to the genome that affect gene expression without changing the DNA sequence

Question 17

What is the effect of histone methylation?

Answer 17

Less gene expression

Histone methylation increases the positive charge on histones, increasing the interaction with DNA and making it less available for transcription

Question 18

What is the effect of histone acetylation?

Answer 18

More gene expression?

Histone acetylation reduces the positive charge on histones, decreasing the interaction with DNA and making it more available for transcription

Question 19

What is X-chromosome inactivation?

Answer 19

Random silencing of one X chromosome to enable normal development in females

Question 20

What is genomic imprinting?

Answer 20

Gene expression from the paternal copy is not the same as gene expression from the maternal copy

Imprinting means it is silence → maternal imprinting means the paternal gene copy is being expressed and vice versa

Question 21

What does imprinting decide?

Answer 21

What copy of a gene is being expressed

Question 22

What is Prader Willi syndrome?

Answer 22

Maternal imprinting on chromosome 15

Question 23

What are the symptoms of Prader Willi syndrome?

Answer 23

• Obesity
• Constant hunger
• Short individuals

Question 24

What is Angelman syndrome?

Answer 24

Paternal imprinting on chromosome 15

Question 25

What are the symptoms of Angelman syndrome?

Answer 25

Happy, mental retardation

Question 26

What are two epigenetiv changes in cancer?

Answer 26

1. Gross reduction of methylation | 2. CpG-specific changes (abnormal methylation in tumour suppressor genes)

Question 27

What are the three steps of sex determination?

Answer 27

1. Gonad formation 2. Gonad determination 3. Sexual differentation

Question 28

What cascade does SRY trigger?

Answer 28

SRY activates Sox9 (chromosome 17, both sex chromosomes). Dax1 (on Y chromosome) also essential (dose sensitive, needs to be normal)

Question 29

How is AMH produced in males?

Answer 29

Developed testes

Question 30

What chromosome disorders can occur?

Answer 30

1. A whole chromosome 2. Region of a chromosomoe 3. Change in a single gene

Question 31

What is genetic profile of Klinefelter?

Answer 31

47 XXY

Question 32

What are the clinical features of Klinefelter?

Answer 32

- Normal at birth, higher incidence of undescended testes - Tall stature - Pea-sized testes - Lack of secondary sexual characteristics - Gynaecomastia (breast tissue development) - Infertility - Some behavioral and minor learning difficulties

Question 33

What happens in 5-alpha-reductase disorders?

Answer 33

- Internal structures male - Variable appearance of external genitalia at birth - During puberty increased androgen levels lead to virilisation of external genitalia

Question 34

What is virilisation?

Answer 34

the development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female or precociously in a boy, typically as a result of excess androgen production.

Question 35

What is Ovotesticular DSD?

Answer 35

Ovarian and testicular tissue in the same individual

Question 36

What is the prognosis for someone with Ovotesticular DSD?

Answer 36

The presence of structures derived from the Wolffian ducts and the degree of virilisation will depend on the production of Testosterone

Question 37

What is 46 XX testicular DSD?

Answer 37

- Goes down the path of developing testes | - Will develop all internal male genitalia

Question 38

What is 46 XX gonadal dysgenesis?

Answer 38

- Failure of ovarian development - Internal organs derived from Mullerian structures - Female external genitalia - Present with delayed puberty, primary or secondary amenorrhea - As no ovaries are not developed

Question 39

What happens in 21-hydroxylase deficiency?

Answer 39

fetal androgen excess Virilisation at birth

Question 40

What are two causes of fetoplacental androgen excess?

Answer 40

1. Aromatase deficiency | 2. Cytochrome p450 oxidoreductase deficiency

Question 41

What can happen in 46 XY DSD?

Answer 41

1. Complete gonadal dysgenesis 2. Partial dysgenesis 3. Gonadal regression

Question 42

What are the sexual characteristics of androgen insensitivity syndrome?

Answer 42

Testes and ovaries, but no other structures Externally female

Question 43

What happens in puberty in someone with androgen insensitivity syndrome?

Answer 43

Testes become active and secrete androgens, aromatised into estrogen

Question 44

What happens in partial androgen insensitivity syndrome?

Answer 44

External genitalia can be female, male or both

Question 45

What are the internal genitalia for someone with 5-a-reductase deficiency?

Answer 45

Male

Question 46

What are the external genitalia for someone with 5-a-reductase deficiency?

Answer 46

Variable