Test 2C Flashcards

1
Q

Know which disorders go with the latent factors externalizing and internalizing respectively.

A

External: antisocial behavior and substance use disorders
Internal: Disorders characterized by negative mood states and inhibition (e.g., depression, anxiety)

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2
Q

Understand the benefit of clustering disorders into externalizing and internalizing broadly, as opposed to talking about the individual disorders each on their own.

A
  • Both externalizing and internalizing run in families
  • Evidence suggests that rather than risk for specific disorders, what is transmitted from parents to offspring is a broad liability that increases risk for that spectrum
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3
Q

Know whether alcoholism rates are similar across countries or whether they vary. If they do vary, where are rates highest/lowest.

A

Vary

highest: Europe to Russia
lowest: Northern Africa to India to Indonesia

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4
Q

How heritable is alcoholism?

A

0.51

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5
Q

How do the effects of the unique (e) and common (c) environment change over time in regards to this phenotype

A

.

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6
Q

Understand the alcohol metabolism model.

A

Alcohol - ADH breaks down - acetaldehyde - ALDH - acetate

both are protective again alcohol

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7
Q

What symptoms arise when a buildup of acetaldehyde occurs?

A
Dysphoric effects that can occur w/in 15 minutes of drinking: 
Heart palpitation (tachycardia) 
Facial reddening 
Nausea, dizziness 
Sweating
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8
Q

How does the inactive form of ALDH is protective against alcoholism, and
how this has changed over time.

A

Inactive ALDH2 is thought to cause high blood acetaldehyde concentrations and a painful flushing response, which suppresses alcohol consumption.

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9
Q

The importance of the environment related to alcoholism

A

.

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10
Q

What are the core defining symptoms of individuals with autism spectrum disorder (ASD)?

A

Difficulties with socializing and communication and narrow interests and repetitive behavior

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11
Q

Autism Spectrum Disorder: Which symptoms might be found in some patients but not others?

A

Language delay

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12
Q

What has been happening to the prevalence of ASD over time?

What is the current prevalence?

A

Prevalence of autism was ~0.04%.

  • The prevalence of ASD will necessarily be higher because it is a broader label, and it is now approaching 1%.
  • Accepting the uncertainty over the causes of the increasing prevalence, we can still point to exemplary cases to show that there is a “core” of true disability.
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13
Q

What is savant syndrome?

A

Condition in which someone with significant mental disabilities demonstrates certain abilities far in excess of average.

  • The skills at which savants excel are generally related to memory.
  • exceptional ability in some narrow domain such as music, drawing, or arithmetic—even while showing impairment in most other domains.
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14
Q

At what rate do we see savant syndrome in those with autism?

A

10%

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15
Q

Understand the liability model.

A

Assume that the disease state manifests itself when a continuous variable called liability crosses a certain threshold.

  • Liability can be interpreted as an aggregate of genetic and environmental causes. If you are unlucky enough to inherit many + genes with respect to the disease and to suffer many adverse environmental events, your liability will be high.
  • Liability is just like any other continuous phenotype (e.g., height, IQ). It has a heritability that does not depend on the threshold.
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16
Q

How do the threshold differ for males and females?

A

Females will carry more mutation than males

  • Female threshold is further than male
  • Female is protected, males at risk
17
Q

What does this mean in terms of number of + genetic variants (e.g.,mutations) carried by males and females who have ASD?

A

Males: risk factors decrease liability threshold
Females: protective factors increase liability threshold

18
Q

What are the genetic correlations with autism?

A

High to low:

  1. PGC-IQ
  2. iPsych-IQ
  3. EduYears
  4. Schizophrenia
  5. Bipolar Disorder
19
Q

Does evidence suggest these correlations are genuine or simply the result of a biased sample?

A

Genuine

  • A recent within-family study strongly suggests a genuine genetic correlation between IQ and ASD rather than biased samples of cases in the GWAS (Weiner et al., 2017).
  • In parent-offspring trios where the offspring has been diagnosed with ASD, the offspring is more likely to have inherited EduYears + alleles from the parents
20
Q

What is the biology suggested by the protein-coding regions in those diagnosed with ASD?

A

Synaptic transmission
- Early brain development
Neurons
- Many of the protein-coding regions containing new mutations in ASD cases encode molecular parts used in synaptic transmission.
- ASD thus seems to reflect disordered communication between neuron

21
Q

What symptoms do schizophrenia and bipolar disorder share in common?

A

Individuals with schizophrenia experience symptoms of psychosis, such as hallucinations or delusions.
- Some people with bipolar disorder also experience psychotic symptoms.

22
Q

In what ways are schizophrenia and bipolar disorder different?

A

In individuals with SCZ there tends to be:

  1. reduced gray matter and hippocampal volume
  2. Slightly larger ventricles
  3. Neurological insults (e.g., those assoc. obstetrical complications), later life stressors, nonhereditary genetic risk factors (e.g., older fathers – possible mutations)
23
Q

What percent of the US population has schizophrenia?

A

1%

24
Q

Does this rate of occurrence differ in other nations?

A

Three “hits” were found that had not been previously reported by Ripke et al. (2014).

  • Of the 117 SNPs that were hits in Europeans, 109 showed a consistent direction of effect in Chinese.
  • These researchers found that the genetic correlation between SCZ and major depression in Chinese (0.43) is very similar to what has been reported in Europeans.
  • Overall, this study strongly supports the notion that the genetics of SCZ is more or less the same in these two populations.
25
Q

Given the available data so far, what can we say about whether the genetics of schizophrenia is similar in different continental populations?

A

Study found that h2 of SCZ appears to be very similar in Europeans and Chinese.

26
Q

Why do individuals suffering from schizophrenia and bipolar disorder show a reduction in life expectancy? What causes this reduced life expectancy?

A

Schizophrenics have a life expectancy that is 10-20 years shorter

  • Most likely as a result of poor diet, lack of physical activity, obesity, substance abuse, and lack of connections to the community.
  • Roughly 5 percent of schizophrenics commit suicide—many times the baseline rate.
27
Q

What predictions following from the hypothesis that schizophrenia and bipolar disorder share some biological causes have been confirmed?

A
  • The fact that SCZ is linked to readily observed brain abnormalities and low intelligence suggests that it reflects greater biological damage.
  • They also show that the biological bases of certain mental diseases are relatively distinct.
28
Q

If twin one has schizophrenia, what is the risk of the other twin having schizophrenia if they are monozygotic twins? how about dizygotic twins? What does this suggest?

A

Monozygotic: 48%
Dizygotic: 17%
- These studies find that effects of shared family environment are very small (< 5% of the liability variance).
- These studies also find that SCZ and BP co-occur in biological families.

29
Q

Results from GWAS of schizophrenia been confirmed in within-family studies?

A

108 hits

30
Q

Schizophrenia is polygenic. What does this mean? Roughly how many SNPs are estimated to affect schizophrenia liability?

A

It has been estimated from GWAS data that there are more than 20,000 causal sites responsible for the h2 of SCZ

31
Q

What is the underlying biology suggested by initial “hits” discovered in GWAS of schizophrenia broadly

A

Brain - Cortex

32
Q

What part of this biological theme is shared with bipolar disorder?

A

Brain tissue

  • Synaptic transmission: neurons communicating with one another
  • glutamate receptor
33
Q

Know the genetic correlation between schizophrenia and bipolar, and which personality trait the two correlate with most strongly.

A

Openness to experience

34
Q

Polygenic

A

Refers to DNA traits such as skin color, hair color, eye color, and stature that are influenced by multiple genes rather than other traits that exist as a yes or no (such as gender or blood type).