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Medical Neuropsychology > Topic 4 - genetic and endocrinology disorders > Flashcards

Topic 4 - genetic and endocrinology disorders Flashcards

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USMLE® Step 1 flashcards
1
Q

What is the definition of intellectual disability?

A

significant limitation in cognitive functioning and the ability to adapt to the demands of everyday living and an onset before the age of 18 years

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2
Q

Down syndrome is caused by …

A

an extra whole copy or segment of chromosome 21 (giving rise to the syndrome name of trisomy 21).

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3
Q

Phenotype of down syndrome

A

cognitive impairment, characteristic facial appearance and muscle hypotonia.

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4
Q

Thee models that account for the relationship between genes, brain, and behavior in down syndrome

A
  1. critical region model: DS phenotype is the product of a few genes located within the down syndrome critical region
  2. amplified developmental instability model: the presence of a threshold number of genes leads to DS phenotype
  3. gene dosage effects model: three copies of series of genes causes a increase in the expression of gene products.
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5
Q

Which behavioral domain is most affected in individuals with DS?

A

Language

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6
Q

What kind of language is mostly impaired in individuals with DS?

A

Expressive language becomes increasingly impaired relative to comprehension
In both comprehension and production, vocabulary knowledge is stronger than knowledge of syntax and grammatica

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7
Q

What is the cause of fragile X syndrome

A

a mutation in the FMR1-gene on the X chromosome

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8
Q

What are the impairments in FXS?

A

processing of sequential information, auditory short term memory and attention (inhibition and sustained)

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9
Q

Which domains are relatively strong in FXS?

A

simultaneously processing, Long term memory and social cognition

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10
Q

What are the language problems in FXS?

A
  • vocabulary relatively strong, syntax relatively weak

- pragmatics weak: perseveration big problem

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11
Q

Which two conditions are associated with the premutation of FXS?

A
  • FXTAS: neurodegenerative disorder

- Primary ovarian insufficiency in females

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12
Q

What is the cause of Williams Syndrome (WS)?

A

hemizygous deletion of 28 genes located on the long arm of chromosome 7

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13
Q

WS is characterized by …

A

a distinctive pattern of dysmorphic facial features, CVD, growth deficiency, connective tissue abnormalities, increased blood calcium and intellectual disability

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14
Q

What are the weaknesses in WS?

A

weaknesses in spatial construction, object and face recognition, and the perception of biological motion

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15
Q

In WS, which processing stream appears to be affected?

A

the dorsal processing stream

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16
Q

Is language affected in WS?

A

Although language is relatively strong in WS, there are some weaknesses.
Syntax appears to be intact.

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17
Q

People with WS use their relatively strong … to overcome challenges to language learning

A

verbal working memory

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18
Q

What interruption may help to explain the deficits in spatial processing that define the WS cognitive phenotype?

A

There is decreased gray matter and sulcal depth in the area of the inferior parietal cortex and it is suggested that these structural abnormalities may provide a roadblock to information traveling along the dorsal processing system

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19
Q

In an intervention effort by individuals with DS, what should be the focus of attention?

A

expressive syntax and auditory memory

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20
Q

In an intervention effort by individuals with FXS, what should be the focus of attention?

A

social dimensions of language

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21
Q

In an intervention effort by individuals with WS, what should be the focus of attention?

A

social dimensions of language and spatial cognition

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22
Q

The sex hormones and corticosteroids influence neuroelectrophysiology, neuroanatomy, and cognition through their interaction with a variety of brain structures, particularly the …

A

hippocampus

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23
Q

What are the two primary sex hormones?

A

estrogen and progesterone

24
Q

Each sex hormone bind to …

A

estradiol, androgen and aromatase receptors that are located in the brain regions associated with learning and memory, notably, the hippocampus, amygdala and prefrontal cortex

25
Q

What is the effect of estrogen..

A

is increases neuronal spine in the hippocampus

26
Q

What happens after estrogen HRT?

A

improvements in verbal memory and learning

27
Q

What is the karyotype and cause of turner syndrome?

A

X0 -> absence of all or part of one X chromosome

28
Q

TS is characterized by …

A

short stature, gonadal dysgenesis, lower estrogen levels, difficulties in nonverbal memory and reasoning, diminished visuomotor and visuospatial skills

29
Q

TS produces atypical EEG patterns and is related to …

A

volume reduction predominantly in the right hemispheric brain structures

30
Q

What are the most common neuropsychological deficits in TS?

A

Spatial and nonverbal skills, nonverbal memory, visuospatial WM, motor abilities

31
Q

Androgen supplementation in TS individuals results in ….

A

improvements in verbal abilities, spatial cognition, executive function and working memory

32
Q

Testosterone related to …

A

increased concentration of nerve growth factors in the hippocampus

33
Q

Dramatic decreases in testosterone is related to impairments in …

A

visuomotor speed, WM, RT, and sustained attention

34
Q

Moderate doses of testosterone supplementation are associated with modest improvements in …

A

verbal and spatial memory

35
Q

What is the cause and karyotype of Klinefelter Syndrome?

A

at least one additional X chromosome in phenotypic males -> XXY karyotype

36
Q

KS boys have …

A

low basal testosterone levels

37
Q

The additional X chromosome in KS is related to

A

infertility, gynecomastia and small testes

38
Q

Males with KS show altered, or atypical … hemispheric …

A

left hemispheric lateralization

39
Q

KS is most associated with difficulties in …

A

language, attention, EF and motor skills.

40
Q

Pre-pubertal boys may show deficits in …

Post-pubertal boys may show deficits in …

A

Pre: sustained attention
Post: language + motor skills

41
Q

What is the effect following hormonal supplementation in KS boys?

A

although pubertal effects are related to low testosterone levels, no changes follow hormonal supplementation

42
Q

What are corticosteroids?

A

hormones endogenously released by the adrenal cortex upon activation of the ANS

43
Q

What are the two primary types of corticosteroids?

A

glucocorticoids and mineralocorticoids

44
Q

Both glucocorticoids and mineralocorticoids have receptors in the …. and are necessary for ….

A

hippocampus ; intact encoding for learned material

45
Q

Elevated levels of glucocorticoids are consistently related to …

A

hippocampal damage, including neuroanatomical changes in the hippocampus such as loss of hippocampal volume and increased ventricular volume

46
Q

What is the cause of cushing syndrome?

A

chronic exposure to excess endogenous glucocorticoids produced by the adrenal cortex

47
Q

What are the main symptoms of Cushing syndrome?

A

fatigue, high BP, glucose intolerance

48
Q

What are neuroanatomical findings in cushing syndrome?

A

loss of brain volume

49
Q

What are neuropsychological impairments in cushing syndrome?

A

verbal memory, learning and IQ

50
Q

What is the cause of addison disease (primary adrenal insufficiency)

A

the inability of the adrenal cortex to produce and secrete corticosteroids

51
Q

What are symptoms of addison disease?

A

orthostatic hypotension, fatigue and weight loss

52
Q

What are neuropsychological impairments in addison disease?

A

spatial memory and learning difficulties

53
Q

What is the treatment for addison disease and what are the consequences?

A

Oral glucocorticoids such as prednisone -> improvement of neuropsychological function

54
Q

Congruent with left hemispheric abnormalities, KS is associated with difficulties primarily in … and secondarily with ..

A

language

attention and motor skills

55
Q

Consistent with right hemispheric abnormalities, TS is associated primary with difficulties in … and secondary with …

A

nonverbal/visual skills, visuomotor and visuospatial skills

working memory and attention

Medical Neuropsychology (9 decks)

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