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MS1 FOM > Week 3 - complete > Flashcards

Week 3 - complete Flashcards

1
Q

Why is early childhood key for development?

A

Brain plasticity is high

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2
Q

When is brain plasticity the highest?

A

During the prenatal period

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3
Q

What happens if a child misses opportunities for development

A

Significant effects later in life

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4
Q

What is a key concept in development? Describe

A

Trajectories: series of milestones are more important than an individual milestone

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5
Q

What is the goal of well child care?

A

Promote health and development, nutrition, prevent disease, and manage and identify illnesses

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6
Q

What is the Rourke baby record

A

Tool to manage important parts of Well child care

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7
Q

What are the 5 key components of the Rourke baby record?

A

Growth
Nutrition
Anticipatory guidance
Immunization
Physical examination

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8
Q

What aspects of growth are measured in the RBR?

A

height, weight, head circumference

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9
Q

What is growth measured against?

A

WHO growth charts

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10
Q

Do all children/babies have the same growth charts?

A

No. There are different charts for different conditions, e.g. Down’s, Turner

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11
Q

How is ‘failure to thrive’ defined?

A

weight <3rd percentile and smaller than family norm; trajectory crosses percentile lines (e.g. going down in percentiles)

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12
Q

How is ‘short stature’ defined?

A

height less than 3rd percentile and smaller than family norm

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13
Q

How are overweight and obesity defined in RBR?

A

Overweight: BMI >85%ile
Obesity: BMI>95%ile

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14
Q

What are 3 aspects of nutrition discussed in RBR?

A

Feeding, supplementation, stool pattern/urine output

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15
Q

What supplementation is recommended for babies?

A

Vitamin D in first year and iron rich foods after 6 months

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16
Q

What is anticipatory guidance? Examples?

A

Providing info to parents to facilitate optimal development and prevent illness/injury
e.g. car seat, babyproofing house

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17
Q

What is one of the most important health promotion strategies?

A

Immunizations

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18
Q

When do babies receive immunizations?

A

At 2, 4, 6, 12, 15, and 18 months

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19
Q

Describe how RBR is used to monitor development

A

Is a predictable series of stages that progress, which mirror the maturation and growing complexity of the brain. Can be measured quantitatively and qualitatively

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20
Q

What are 2 aspects of brain and neuronal development?

A

Pruning and sculpting

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21
Q

Describe pruning and sculpting of neuronal pathways:

A

Pruning: elimination of unused connections
Sculpting: enhancement of frequently used connections

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22
Q

What are critical periods in brain development?

A

If the needed stimuli are not received, then that part of the brain will not develop (e.g. visual development)

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23
Q

What are sensitive periods in brain development?

A

“windows of opportunity” when child is primed to receive sensory input and develop more advance neural systems (e.g. language)

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24
Q

What is developmental assessment?

A

Comparing observed development to expected norms

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25
Q

What are 5 areas of development that are commonly assessed?

A

Gross motor
Fine motor
Speech/language
Social adaptive
Cognitive development

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26
Q

What is critical for ensuring proper development?

A

That a childs vision and hearing are functional

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27
Q

What standards are used as surveillance and screening for developmental assessment?

A

RBR: use as surveillance
Nipissing/LookSee and ASQ are screening

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28
Q

What are developmental milestones?

A

Enable clinical assessment of a child’s development in a given area

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29
Q

What is one requirement for assessing milestones?

A

Child must be otherwise healthy

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30
Q

What are 2 important aspects when assessing milestones?

A

Quality and symmetry

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31
Q

What is required for assessing milestones?

A

Careful observation over TIME. Not one-off assessment. Need to observe a child’s progression

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32
Q

What is the most easily observed milestone/area of development?

A

Gross motor development

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33
Q

Which area of development is most/least predictive of future cognition?

A

Most: speech/language development

Least: gross motor development

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34
Q

What gross motor development is appropriate for 1, 3-4, and 4-5 months old?

A

1: lift head
3-4mo: head control
4-5mo: rolling over

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35
Q

What gross motor development is appropriate for 6, 10, and 12-15 months old?

A

Sit
Moving upright (e.g. crawl)
walking independentley

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36
Q

What gross motor development is appropriate for 18mo, 2yo, and 2.5yo?

A

walking well, bends down to pick things up

runs, climbs stairs

jumps on two feet

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37
Q

What gross motor development is appropriate for 3, 4, and 5 years old?

A

3: stand on one food
4: alternate feet walking up and down stairs
5: one foot hops

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38
Q

what is attachment?

A

Social and emotional link between infant and caretaker

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39
Q

What does attachment form the basis of?

A

Subsequent relationships

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40
Q

What is temperament?

A

A child’s characteristic way of responding

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41
Q

When does mental health begin? how does mental health develop?

A

Begins in infancy.
It develops in the context of relationships between infant and caregiver

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42
Q

What are infants programmed for? PRovide an example

A

Social interaction. For instance, they prefer human voice and facial expressions over inanimate objects

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43
Q

How do infants communicate their emotional experiences?

A

Crying and other expressions

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44
Q

When should infants be able to have proto conversations?

A

8 weeks

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45
Q

How do infants learn to self regulate?

A

Through caregiving experiences: adults helping to soothe them eventually allows them to learn to soothe themselves

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46
Q

What is the transactional model of infant development?

A

Infants are affected by their environment but can also affect the environment

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47
Q

How is infant emotional development characterized in months 0-3?

A

physical regulation, parents make patterns in infants’ day, which sets the stage for future self regulation

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48
Q

How is infant emotional development characterized in months 3-6?

A

Infants are less overwhelmed by bodily sensations, are socially interactive (smile, laugh)

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49
Q

How is infant emotional development characterized in months 6-12?

A

Infants form the basis of their attachment relationships towards the primary caregiver. They prefer familiar adults

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50
Q

What are some attachment behaviours?

A

crying, eye contact, cooing, smiling, reaching out, clinging, following

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51
Q

What are the 4 attachment styles?

A

Secure
Insecure-avoidant
insecure-ambivalent
disorganized

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52
Q

What proportion of children make up each attachment style?

A

Secure: 60-65%
insecure-avoidant: 20%
insecure-ambivalent: 10-15%
disorganied: 5-10%

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53
Q

Describe the securely attached infant:

A

uses parent as secure base from whom to explore; strongly prefers parent>stranger

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54
Q

Describe the securely attached parent:

A

responds appropriately, promptly, and consistently to child’s needs

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55
Q

Describe the securely attached child at school age:

A

exploratory; interacts well with children and adults

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56
Q

Describe the insecure-avoidant attached infant:

A

does not seek to play with parent; little response to parent leaving; parent = stranger

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57
Q

Describe the insecure-avoidant attached parent:

A

little/no response to distress; discourages crying and encourages independence

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58
Q

Describe the insecure-avoidant attached child at school age:

A

more hostile with teachers/peers, unprovoked aggression, and discipline problems

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59
Q

Describe the insecure-ambivalent attached infant:

A

parent not secure base for exploration so wants to stay close to them; distressed upon separation; will not be calmed by a stranger

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60
Q

Describe the insecure-ambivalent attached parent:

A

inconsistent – sometimes responsive and sometimes preoccupied and unresponsive

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61
Q

Describe the insecure-ambivalent attached child at school age:

A

clingy, fearful; have difficulty separating from parents; very emotional

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62
Q

Describe the disorganized attached infant:

A

lack of coherent attachment strategies shown when stressed; contradictory behaviours

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63
Q

Describe the disorganized attached parent:

A

frightened/frightening behaviour – intrusiveness, withdrawal, excess negativity, maltreatment, childlike parent, volatile/inappropriate emotion

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64
Q

Describe the disorganized attached child at school age:

A

high rates of aggressive, hostile, threatening behaviour towards peers/teachers

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65
Q

Who was Gessel?

A

wrote detailed descriptions of normal child development

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66
Q

Who was Erikson?

A

Introduced psychosocial development, and recognized the importance of social factors. Trust vs mistrust

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67
Q

What is the behavioural model?

A

all development is the cumulative effect of learning. Learning is the result of positive or negative reinforcement of observable behaviours

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68
Q

What concept did pavlov and thordike introduce?

A

Classical conditioning

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69
Q

What are the 3 concepts in classical conditioning?

A

Reinforcement
Extinction
Generalization

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70
Q

What is reinforcement in classical conditioning?

A

repeated association strengthens the link between the stimulus and response

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71
Q

What is extinction in classical conditioning?

A

Relationship between the stimulus and response is weakened

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72
Q

What is generalization in classical conditioning?

A

Conditioned response becomes linked to a stimulus that is similar to the initial stimulus

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73
Q

What concept did Skinner introduce?

A

Operant conditioning

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74
Q

What are two aspects of operant conditioning?

A

positive/negative and reinforcement/punishment

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75
Q

What concept did Piaget introduce?

A

Cognitive development: children take active roles in adapting to their environment

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76
Q

What did piaget emphasize?

A

The interaction of biological change and the impact of the environment

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77
Q

How does development occur according to Piaget?

A

New knowledge is assimilated into existing cognitive frameworks, and frameworks are accommodated to incorporate new info

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78
Q

What are some common developmental disorders?

A

Speech delays, learning disabilities, ADHD

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79
Q

What is global development delay?

A

Failure to meet expected milestones in 2+ areas

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80
Q

To whom does global development delay apply?

A

Children aged 5 and up ONLY

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81
Q

What do you want to optimize in children to prevent developmental delay? Example

A

Optimize participation. E.g. just because someone is delayed or has a disability, doesn’t mean that they cant participate in ‘normal’ activities

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82
Q

What is the international classification of function?

A

Framework of how health conditions, personal factors, and environmental factors affect aspects of life including body structure and function, activity, and participation

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83
Q

How do speech and language develop?

A

Through complex interactions and transactions between children, adults, and peers

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84
Q

What are some red flags of speech development at 2mo?

A

Not responding to nearby conversation

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85
Q

What are some red flags of speech development at 4mo?

A

not being interested in people

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86
Q

What are some red flags of speech development at 10mo?

A

Not using repetitive babble

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87
Q

What are some red flags of speech development at 18mo?

A

No single words

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88
Q

What are some red flags of speech development at 2yo?

A

No 2-word phrases

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89
Q

What are some red flags of speech development at 4y?

A

Not speaking fully intelligibly

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90
Q

What are some red flags of speech development at 5yo?

A

Poor grammar

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91
Q

What percentage of children are affected by developmental language disorders

A

2-5%

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92
Q

Can developmental language disorders be hereditary?

A

Yes

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93
Q

What may developmental language disorders be a part of?

A

global development delay, ASD, intellectual disability

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94
Q

What may developmental language disorders be secondary to?

A

hearing impairment, neglect, brain injury

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95
Q

When do families do best?

A

when they’re able to respond to the spontaneous/unexpected while maintaining predictable structures and patterns

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96
Q

What percentage of families have never been divorced?

A

less than 50%

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97
Q

What are children of divorced parents at slightly higher risk of?

A

psychological problems

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98
Q

How does family structure influence child health and development?

A

There is no evidence that family structure alone is a significant predictor of child health/development

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99
Q

How common are genetic disorders in miscarriages?

A

present in 15% of miscarriages
50% of miscarriages have a chromosomal abnormality

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100
Q

What are things you need to consider when thinking about whether there may be a genetic disorder? (6)

A
  1. developmental delays, dysmorphic features, congenital malformations
  2. Family Hx
  3. History of 3+ miscarriages/stillbirths/infertility
  4. consanguinity and ethnic background
  5. cancers (esp. early onset)
  6. early onset CVD
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101
Q

What genetic disorders are Ashkenazi Jewish predisposed to?

A

Tay-Sachs, BRCA1, Canavan disease, familial dysautonimia

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102
Q

What genetic disorders are French Canadians predisposed to?

A

Tay-Sachs

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103
Q

What genetic disorders are Mediterraneans predisposed to?

A

b-thalassemia

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104
Q

What genetic disorders are southeast asians predisposed to?

A

a-thalassemia

105
Q

What genetic disorders are Amish/Mennonites and Arabs predisposed to?

A

various rare disorders

106
Q

What genetic disorders are Africans predisposed to?

A

sicke cell anemia

107
Q

What genetic disorders are Caucasians predisposed to?

A

cystic fibrosis

108
Q

When taking a family history for genetics, what should you inquire about (10)?

A

3 generations, consanguinity, HPI, developmental delays, birth defects, fertility history, cancers, neonatal deaths, early onset HD, ethnicity

109
Q

Define allelic heterogeneity

A

Different mutations in the same gene resulting in different phenotypes

110
Q

Define locus heterogeneity

A

Mutations in different genes at different chromosomal loci that cause the same phenotype

111
Q

What is genetic anticipation?

A

Symptoms of a disorder become more apparent/severe with each new generation

112
Q

What are some conditions that are subject to anticipation?

A

Triple repeat disorders eg Huntingtons and Fragile X syndrome

113
Q

What is gonadal mosaicism?

A

When a parent expresses a mutation only in the gonads so they have no phenotypic effects but it can cause repetitive de novo mutations in offspring

114
Q

Describe autosomal dominant pattern of inheritance

A

Affect people in each generation; one copy of mutation is sufficient to express condition.

115
Q

Describe how males and females are affected in dominant mutations

A

equally

116
Q

Can there be variation in autosomal dominant phenotypes?

A

Yes

117
Q

What is a new dominant mutation?

A

new conditions that arise; are not seen in previous generations

118
Q

What is the dominant negative effect?

A

When a gene product affects the wild type gene too, resulting in a major phenotypic effect

119
Q

What is haploinsufficiency?

A

When a single copy of a gene is inactivated and the remaining one is insufficient to maintain normal function

120
Q

What is a gain of function mutation?

A

A mutation that causes increased activity of the normal gene product

121
Q

What is pleiotropy?

A

One gene impacting many organs

122
Q

What is penetrance?

A

THe fraction of individuals who carry a gene who manifest a specific phenotype

123
Q

Describe the 2 types of penetrance

A

Complete: absolutley shows sign.
Incomplete/reduced: even if someone has a gene mutation they may not show signs

124
Q

What can penetrance also be dependent upon?

A

Age. I.e., symptoms only appear with certain environmental triggers

125
Q

What is genetic mosaicism? What are the types?

A

When not all tissues are affected by a mutation. Includes gonadal (Affects future offspring) and somatic (limited to parent tissues)

126
Q

What can increase the risk of autosomal recessive mutations?

A

Increased consanguinity

127
Q

How do recessive mutations affect males and females?

A

Equally

128
Q

What are the 2 types of heterozygotes?

A

Cis and Trans

129
Q

Compare cis vs trans heterozygotes

A

Cis: 2 mutations on same allele of gene = mutations are from one parent

Trans: two different mutations on different alleles of gene = one mutation from each parent

130
Q

Describe X-linked mutations

A

Affect males almost exclusively, transmitted from female carrier

131
Q

Define hemizygous

A

Has to do with mutations on X chromosome: in males there is only 1 X chromosome so we call it hemizygous

132
Q

Define X inactivation:

A

One of two X chromosomes in females are inactivated by methylation

133
Q

Relate X inactivation to X linked diseases

A

Females arent affected by X linked conditions because of X inactivation: they have a “spare” X chromosome BUT if more healthy Xs are inactivated, then females can get some mild symptoms

134
Q

Define X-autosomal translocation

A

If the translocated X is inactivated, there will be partial monosomy for the autosomal segment which will be lethal to the cell

135
Q

What are some types of non-mendelian genetics? (5)

A

mitochondrial, epigenetics, digenic, multifactorial, triplet repeat disorders

136
Q

How are mitochondria inherited?

A

From the mother

137
Q

What tissues to mitochondrial disorders affect? Examples of disorders?

A

Many tissues- are multisystemic
E.g. fatigue, feeding difficulties, cardiomyopathy, cognitive dysfunction

138
Q

What is the % chance that mitochondrial condition will be passed on?

A

100% chance from mother

139
Q

Define polyplasmy

A

multiple copies of mtDNA per cell

140
Q

Describe heteroplasmy

A

mixture of normal and abnormal mtDNA in cells

141
Q

What is the threshold effect?

A

In mitochondrial genetics, a certain amount of heteroplasmy (proportion of affected maternal mtDNA passed on) is needed for offspring to be affected

142
Q

Describe epigenetics

A

Differential expression of genes depending on whether theyre inhehrited from mom and dad, has to do with imprints (by methylation) affecting gene expression

143
Q

What are 2 epigenetic syndromes?

A

Prader-Willi and Angelman

144
Q

What is prader-willi syndrome characterized by?

A

Hypotonia, hypogonadism, hypomentia, obesity

145
Q

What is Angelman syndrome characterized by?

A

Hand flapping, other cognitive defects

146
Q

How are Prader-willi and angelman syndrome derived? Compare/contrast

A

From switch off/deletion of c15.
Maternal delation = AS
Paternal deletion - P-WS

147
Q

Define uniparental disomy
What is it AKA?

A

pair of chromosomes from the same parent. AKA monosomy/trisomy rescue

148
Q

Define how different regions of chromosomes are affected by imprinting? How does IVF affect it?

A

Only certain regions are imprinted and thus at risk of mutations/genetic issues

IVF can affect imprinting/rescues and increase the risk of chromosomal diseases

149
Q

Define digenic mutations

A

phenotypic effects manifested only when two nonallelic controlling genes interact

150
Q

Define multifactorial mutations

A

When >1 favtor causes a trait or health problem, e.g. genes, lifestyle, nutrition

151
Q

What are some Triplet repeat disorders?

A

Huntington’s, Fragile X syndrome, myotonic dystrophy, Friedrich ataxia

152
Q

What are some down sides of genetic screening?

A

Not diagnostic
Can have false positive/negative results
knowledge does not always equal power

153
Q

What are some considerations for offering genetic screening?

A

Family Hx, ethnicity, clinical features

154
Q

How many conditions does ontario newborn screening screen for?

A

30 metabolic disorders, mostly autosomal recessive

155
Q

What was the first metabolic disorder screened for in Ontario?

A

PKU

156
Q

What criteria are used to determine what metabolic disorders are screened for in ontario newborn screening?

A

Wilson and Jungner critera

157
Q

Describe Wilson and Jungner criteria

A

Take into consideration the screen (if its reliable and economic), the disease (severity, etiology, if theres an asymptomatic stage), and the management (if treatment is available)

158
Q

What are the 8 classes of diseases screened for in ontario newborn screening?

A
  1. metabolic diseases
  2. endocrine diseases
  3. sickle cell diseases
  4. cystic fibrosis
  5. severe combined immune disease
  6. critical congenital heart disease
  7. congenital hearing loss
  8. spinal muscular atrophy
159
Q

What are 3 types of prenatal screening?

A

Preconception counseling
Non-invasive screening
Invasive screening

160
Q

What is the purpose of preconception counseling?

A

To educate and reduce risk of some disorders

161
Q

What are examples of primary and secondary prevention in preconception counseling?

A

Primary: folic acid, no smoking or drug consumption

Secondary: screening

162
Q

What are advantages and disadvantages of prenatal screening?

A

Adv: anticipatory guidance, in-utero interventions, labour planning

Disadv: increased anxiety and stress, uncertain results, limitations of screenigns

163
Q

What are 5 types of non invasive prenatal screening?

A
  1. Maternal and family Hx
  2. NT ultrasound
  3. eFTS
  4. Fetal anatomy scan
  5. NIPT
164
Q

What are some things to discuss when taking a maternal and family Hx as part of prenatal screening?

A

age, teratogens, diabetes, ethnicity, reproductive Hx, consanguinity

165
Q

When is NT ultrasound done?

A

11-13w6d

166
Q

What is a positive screen in a NT ultrasound?

A

Elevated NT >3.5mm

167
Q

What does a NT >3.5mm signify

A

increased risk for heart defect, aneuploidy, and noonan syndrome

168
Q

What else does NT US screen for?

A

T13, T18, T21, Turner syndrome

169
Q

When is eFTS done? what is the turnaround time?

A

11-13w6d. Turnaround time 5-10d

170
Q

What is the eFTS?

A

Bloodwork screen for HCG, APP-A, PIGF, AFP, T18, T21

171
Q

When is a fetal anatomy scan done?

A

18-20w

172
Q

What does a fetal anatomy scan screen for?

A

Congenital malformations including NT defects, anterior abdominal wall defects, major heart defects, skeletal dysplasias

173
Q

When is a NIPT done? what is the turnaround time?

A

> 9w; 10d turnaround time

174
Q

What does NIPT screen for?

A

trisomies, microdeletions, X and Y screens

175
Q

What conditions need to be present for a NIPT to be indicated/covered by OHIP?

A

ADvanced maternal age, positive NT ultrasounds screen, positive eFTS

176
Q

Compare invasive and non-invasive screenings

A

Invasive are DIAGNOSTIC, non-invasive are not

177
Q

What are 2 types of invasive prenatal screening

A

chorionic villi sampling and amniocentsis

178
Q

What is the miscarriage risk for CVS and amnio?

A

CVD: 1/100; amnio: 1/200

179
Q

compare CVS and amnio

A

sample collected from placenta (CVS) or amniotic fluid (amnio)

180
Q

What are the 2 arms of a chromosome?

A

p and q

181
Q

How can chromosome centromeres be located? How does this affect chromsome shape?

A

Metacentric, submetacentric, acrocentric, telocentric

182
Q

Describe acrocentric chromosomes

A

short p arm contains no unique genes, so deletion has no effect

183
Q

What are acrocentric chromosomes

A

c13, 14, 15, 21, 22

184
Q

What are 2 broad types of chromosome disorders?

A

Numerical anomaly and structural anomaly

185
Q

What causes numerical anomalies (3)

A

1+2. error during Meiosis i or ii
3. during mitosis

186
Q

Compare numerical anomiles resulting from meiosis vs mitosis errors

A

Errors during meiosis result in aneuploidy or triploidy; errors during mitosis result in somatic mosaicism

187
Q

What is the most common cause of T21?

A

Nondisjunction during meiosis I

188
Q

Which monosomies are lethal?

A

All except monosomy X (Turner syndrome)

189
Q

What are the 3 T21 aetiologies? Which are most common?

A

nondisjunction (23%), translocation (5%), mosaic (2%)

190
Q

Which T21 aetiology results in the mildest symptoms? Why?

A

Mosaic aneuploidy, because not all cells are affected

191
Q

Define: robertsonian translocation

A

Between acrocentric chromosomes

192
Q

Describe hereditary component of robertsonian translocation

A

15% rate of recurrence

193
Q

What are structural chromosome anomalies? Where does it occur

A

Recombination errors between non-homologous chromosomes

194
Q

Define: balanced translocation

A

When chromosome sections are moved but not lost, often resulting in no impact on health. BUT it can affect offspring because gametes can become unbalanced

195
Q

Define: philadelphia translocation

A

somatic translocation between c9 and c22 in WBCs

196
Q

How do chromosome duplications and deletions occur? Which is more severe?

A

Occur due to unequal recombination between homologous chromosomes

Deletions are more severe, it depends on the size of the c that is missing

197
Q

List 7 common chromosomal syndromes

A

Turner
T13, T18, T21
Klinefelter
DiGeorge
P-W
Angelman

198
Q

what is turner syndrome characterized by?

A

puffy hands/feet, webbed neck, coarctation of aorta, short stature, primary amenorrhea and infertility, normal intelligence

199
Q

How is Turner syndrome notated?

A

45, X
45, X/46, XX
etc.

200
Q

What is T13 aka?

A

Patau syndrome

201
Q

How is Patau syndrome characterized?

A

Midline defects, cleft palate, polydactyly, severe developmental delay

202
Q

What is the fatality of Patau syndrome?

A

80-90% in first year

203
Q

How is Patau syndrome notated?

A

47,XX, + 13

204
Q

What is T18 aka?

A

Edward syndrome

205
Q

How is eddward syndrome notated?

A

47, XX + 18

206
Q

How is Edward syndrome characterized?

A

Cardiac defects, delicate facial features, small size, overlapping fingers, rocker bottom feet, marked development delay

207
Q

Compare how males vs females are affected by T18

A

Edward syndrom affects females 5:1

208
Q

How is Klinefelter syndrome denoted?

A

47, XXY

209
Q

How is Klinefelter syndrome characterized?

A

Tall stature, gynecomastia, small testes, infertility, normal appearance

210
Q

How is DiGeorge syndrome notated?

A

22q11.2 microdeletion

211
Q

How is diGeorge syndrome characterized?

A

cleft palate, congenital heart defect, hypocalcaemia, immunodeficiency, learning disability, low-set ears

212
Q

How are Prader-Willi and Angelman syndrome notated?

A

15q11-w13 paternal deletion (PW)
15a11-q13 maternal deletion (A)

213
Q

How is PW characterized?

A

hypotonia, hypogonadism, hypomentia, obesity

214
Q

How is angelman syndrom characterized?

A

small head, happy demeanor, stiff-legged gait with arms up, absent speech, severe developmental delay

215
Q

What are 4 types of cytogenetic and molecular testinng?

A

Karyotype, FISH, microarray, QF-PCR

216
Q

Describe karyotype testing

A

arranging chromosomes by pairs according to standard

217
Q

What are the chromosome groups?

A

A: 1-3
B: 4-5
C: 6-12, X
D: acrocentric c
E: 16-18
F: 19-20

218
Q

When would you order karyotype testing?

A

for suspected chromosome syndromes, first degree relatives with translocations, 3+ miscarriages, stillbirths or neonatal deaths of unknown causes, disorders of sexual differentiation, infertility/amenorrhea

219
Q

What is FISH?

A

Uses fluorescent probes to bind only to parts of the chromosomes

220
Q

When would you order FISH?

A

To find microdeletions BUT you need to know what you’re looking for (i.e. use after microarray to determine parentage cause)

221
Q

What is a microarray?

A

Measures the expression levels of large numbers of genes simultaneously, shows gene content of chromosome imbalance

222
Q

What cant microarrays show?

A

balanced translocations

223
Q

When would you order a microarray?

A

Moderate to severe developmental delays and multiple congenital abnormalities

224
Q

What is the ACMG scale?

A

tells whether a microarray result is pathogenic-neutral-benign (1 = pathogenic, 5 = benign)

225
Q

What is QF-PCR?

A

Fast counter for trisomies and X and Y chromosomes

226
Q

What are pros/cons of QF PCR?

A

Fast and diagnostic but cant show the mechanism (e.g. translocation, trisomy?) so need to karyotype after

227
Q

Compare trave vs macrominerals. Examples of each

A

Trace (e.g. Se, Zn, Fe, I) are needed in a few mg/day

Macrominerals e.g. Ca, Na, K, Mg need 100s of mg per day

228
Q

Define EAR, RDA and AI

A

EAR: meets the nutrition needs of 50% of population
RDA: EAR + 2 SD meets needs of 97.5% of population
AI: when RDA cannot be calculated

229
Q

What is tolerable UL?

A

Highest intake of a nutrient that is unlikely to pose a health risk to almost all individuals in the population

230
Q

Compare calorie content in breast milk and formula

A

Both have 0.67kcal/mL and contain 50% fat

231
Q

What is the main CHO in breast milk?

A

lactose

232
Q

What are the main proteins in breast milk?

A

60-80% whey, 20-40% casein

233
Q

What are the 3 stages of breast milk?

A

colostrum, transitional, mature

234
Q

Compare macronutrients in formula vs breast milk

A

formula is more macronutrient rich but iron is less well absorbed

235
Q

What are some protein sources in formula?

A

hydrolyzed whey, protein hydrolysates, soy-based

236
Q

Describe newborn weight gain/loss

A

Lose 5-10% of weight at birth but regain by 10-14d

237
Q

How much weight/height should children gain each year?

A

2-3kg and 5-8cm per year until puberty

238
Q

What is vitamin A function and deficiency/excess?

A

pigment in retina
night blindness or hyperkeratosis

239
Q

What is vitamin B1? function and deficiency?

A

Thiamine
Function: CE in pyruvate metabolism
def: beriberi

240
Q

What is vitamin B2? function and deficiency?

A

riboflavine
CE in mito ox metabolism
Def: normocytic anemia

241
Q

What is vitamin B3? function and deficiency?

A

niacin
CE in mito ox met
def: pellagra

242
Q

What is vitamin B6? function and deficiency?

A

pyridoxine
CE in AA synthesis
def: normocytic anemia

243
Q

What is vitamin B12? function and deficiency?

A

cobalamin
Facilitates erythrocyte and myelin formation
def: pernicious anemia

244
Q

What is vitamin C? function and deficiency?

A

ascorbic acid
collagen formation
def: scurvy

245
Q

What is vitamin D? function and deficiency?

A

cholecalciferol
increases Ca absorption
def: rickets

246
Q

What is vitamin E? function and deficiency?

A

a-tocopherol
antioxidant
peripheral neuropathy

247
Q

What is vitamin K1? function and deficiency?

A

phylloquinone
clotting
def: hemorrhage

248
Q

What is folate? function and deficiency?

A

purine synthesis
def: megaloblastic anemia

249
Q

What is biotin? function and deficiency?

A

CE in carboxylation reactions
def: neurologic signs

250
Q

What is pantothenic acid? function and deficiency?

A

part of CoA: AA synth and CHO/fat metabolism
def: neurologic and gastro signs

251
Q

Function of sodium

A

maintain fluid volume and osmotic pressure

252
Q

function of potassium

A

maintain electric potential across membranes

253
Q

function of chloride

A

maintain fluid volume, neurologic functions

254
Q

function of calcium

A

bone formation and remodeling, clotting

255
Q

function of magnesium

A

stabilize PO4-3 groups, esp in ATP

256
Q

function of phosphorus

A

nucleic acids, cell membranes, ATP

257
Q

function of iron

Deficiency?

A

Hb, Mb, enzymatic iron synthesis

def: microcytic anemia

258
Q

function of iodine

deficiency?

A

thyroid hormone

def: goiter, cretinism

259
Q

function of zinc?

deficiency?

A

protein metabolism and synthesis, cell membrane stability

def: growth, immunity, rash, diarrhea

MS1 FOM (5 decks)

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