Development Flashcards

1
Q

What skills develop as children grow up?

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

In neurological development, what is the process of addition?

A

Ongoing accumulation or growth (myelination and dendritic aborisation)

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3
Q

In neurological development, what is the process of regression?

A

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

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4
Q

What are causes of atypical development?

A
  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
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5
Q

What are the 4 types of abuse?

A
  1. Psychological
  2. Physical
  3. Sexual
  4. Neglect
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6
Q

What are the four developmental domains?

A
  1. Gross motor
  2. Fine motor and vision
  3. Hearing and language
  4. Social and emotional
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7
Q

In what five steps does language develop?

A
  1. Preverbal communication
  2. Phonological development
  3. Semantic development
  4. Syntax and grammar development
  5. Pragmatics development
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8
Q

When do babies often say their first word?

A

9-13 months

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9
Q

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

A

3 per month

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10
Q

How many words does an infant know at 18 months?

A

22

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11
Q

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

A

10-20 per week

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12
Q

What s the vocabulary range at age 6?

A

10000 words

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13
Q

What are the 4 stages of child development?

A
  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
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14
Q

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

A
  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
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15
Q

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

A
  1. Sensorimotor
  2. Preoperational
  3. Concrete operations
  4. Formal operations
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16
Q

What is the epigenetic mechanism?

A

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

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17
Q

What is the effect of histone methylation?

A

Less gene expression

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

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18
Q

What is the effect of histone acetylation?

A

More gene expression?

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

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19
Q

What is X-chromosome inactivation?

A

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

20
Q

What is genomic imprinting?

A

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

21
Q

What does imprinting decide?

A

What copy of a gene is being expressed

22
Q

What is Prader Willi syndrome?

A

Maternal imprinting on chromosome 15

23
Q

What are the symptoms of Prader Willi syndrome?

A
  • Obesity
  • Constant hunger
  • Short individuals
24
Q

What is Angelman syndrome?

A

Paternal imprinting on chromosome 15

25
Q

What are the symptoms of Angelman syndrome?

A

Happy, mental retardation

26
Q

What are two epigenetiv changes in cancer?

A
  1. Gross reduction of methylation

2. CpG-specific changes (abnormal methylation in tumour suppressor genes)

27
Q

What are the three steps of sex determination?

A
  1. Gonad formation
  2. Gonad determination
  3. Sexual differentation
28
Q

What cascade does SRY trigger?

A

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

29
Q

How is AMH produced in males?

A

Developed testes

30
Q

What chromosome disorders can occur?

A
  1. A whole chromosome
  2. Region of a chromosomoe
  3. Change in a single gene
31
Q

What is genetic profile of Klinefelter?

A

47 XXY

32
Q

What are the clinical features of Klinefelter?

A
  • 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
33
Q

What happens in 5-alpha-reductase disorders?

A
  • Internal structures male
  • Variable appearance of external genitalia at birth
  • During puberty increased androgen levels lead to virilisation of external genitalia
34
Q

What is virilisation?

A

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.

35
Q

What is Ovotesticular DSD?

A

Ovarian and testicular tissue in the same individual

36
Q

What is the prognosis for someone with Ovotesticular DSD?

A

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

37
Q

What is 46 XX testicular DSD?

A
  • Goes down the path of developing testes

- Will develop all internal male genitalia

38
Q

What is 46 XX gonadal dysgenesis?

A
  • 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
39
Q

What happens in 21-hydroxylase deficiency?

A

fetal androgen excess

Virilisation at birth

40
Q

What are two causes of fetoplacental androgen excess?

A
  1. Aromatase deficiency

2. Cytochrome p450 oxidoreductase deficiency

41
Q

What can happen in 46 XY DSD?

A
  1. Complete gonadal dysgenesis
  2. Partial dysgenesis
  3. Gonadal regression
42
Q

What are the sexual characteristics of androgen insensitivity syndrome?

A

Testes and ovaries, but no other structures

Externally female

43
Q

What happens in puberty in someone with androgen insensitivity syndrome?

A

Testes become active and secrete androgens, aromatised into estrogen

44
Q

What happens in partial androgen insensitivity syndrome?

A

External genitalia can be female, male or both

45
Q

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

A

Male

46
Q

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

A

Variable