Psychosocial Flashcards

1
Q

Core Qualities

A

Respect (Unconditional Positive Regard)
Genuineness
Empathy

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2
Q

Congruence

A

Match between counselor’s inner process and response to it. A key element of being genuine. (basically, pt’s can tell if you’re faking)

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3
Q

Associative countertransference

A

brings GC (for short time) to inner self (GC makes connection to their own experience) → may not be attending to what the counselee is saying→ break in empathic connection

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4
Q

Projection

A

A type of countertransference in which counselor has made assumptions about the experience of the patient based on parallel experience (likely has emotional reaction themselves and assumes this is what counselee feels)

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5
Q

Projective identification

A

occur when situation is extremely challenging to the counselee and he/she is not able to bring forward adequate psychological defenses to respond (counselor becomes a temporary repository of the feeling that is unacceptable to the counselee). Confounding of two phenomena. Projection from patient to GC, but GC also has some congruence with or accepts this projection and “has feelings” that GC mistakenly thinks are her own, but are actually from pt’s process.

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6
Q

Self attunement

A

ability to notice inner dialog during a session and adjust as needed

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7
Q

Boundaries

A

safeguards that do not impinge on the patient’s autonomy, self-expression, confidentiality, and physical safety

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8
Q

Boundaries

A

safeguards that do not impinge on the patient’s autonomy, self-expression, confidentiality, and physical safety. Different degrees needed for different patients. Also needed by GC for full participation.

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9
Q

Nondirectiveness

A

An ethical principle in service of patient autonomy, NOT a psychological theory

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10
Q

Sympathetic response

A

Real, but not useful within GC session. Must be distinguished from empathy and set aside during session.

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11
Q

Counselee Styles: Confronting

A

trying to change the opinion of the person in charge

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12
Q

Counselee Styles: Distancing

A

going on as if nothing happened

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13
Q

Counselee Styles: Self-Controlling

A

keeping feels to oneself

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14
Q

Counselee Styles: Seeking Social Support

A

engaging in conversation in the hope of learning more

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15
Q

Counselee Styles: Accepting Responsibility

A

criticizing oneself

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16
Q

Counselee Styles: Escape-Avoidance

A

hoping for a miracle

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17
Q

Counselee Styles: Plan

A

identifying and follow an action plan

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18
Q

Counselee Styles: Positive Reappraisal

A

identifying existing or potential positive outcomes

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19
Q

Tenets of Genetic Counseling

A

The relationship is integral to genetic counseling
Patient autonomy must be supported
Patients are resilient
Patient emotions make a difference

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20
Q

Proneness

A

lay beliefs about inheritence and susceptibility

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21
Q

Reciprocity

A

people will respond to intimate questions only when the person asking them first shares his/her own experiences

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22
Q

Identification

A

the willingness to put yourself in your client’s shoes and walk in them for a while

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23
Q

Morality

A

agreed upon view of what is acceptable and unacceptable behavior

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24
Q

Ethics

A

establishment of a set of guidelines for morally acceptable conduct within a theoretical framework

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25
Q

Principles

A

the source of the guidelines for behavior

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26
Q

Values

A

qualities that are considered good or priorities that are desirable and important

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27
Q

Rules

A

specific guides that must be followed at all times

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28
Q

Ideals

A

goals to which we should aspire

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29
Q

Duties

A

defined by a person’s role in society

30
Q

Virtues

A

characteristics of an individual that are morally desirable

31
Q

Rights

A

justified claims that individuals or groups can make on others/society

32
Q

5 elements of informed consent:

A
Competence (18 years of age)  
Amount/ Accuracy of Info
Patient’s Understanding 
Voluntariness
Authorization
33
Q

Human Subject

A

any living individual or fetus about whom a research investigator obtains data via interaction or intervention

34
Q

CF Diagnosis general

A

1 pheno feature and 1 of the following

  • 2 elevated sweat tests (>60 at >6 m)
  • Biallelic CFTR mutations
  • Transepithelial nasal potential difference measurements characteristic of CF (>6 y)
35
Q

CF Diagnosis Infant

A

elevated IRT and 1 of the following

  • Biallelic CFTR mutations
  • 1 abnormal sweat test
36
Q

When should you go straight to sequencing for CF?

A

Ethnicity not well screened with ACMG23
High-risk fetus
Echogenic bowel ID’d
Newborn screen positive with intermediate sweat test
Symptomatic infant too young for sweat test

37
Q

Molecular testing for CF

A

Start with ACMG 23
Then sequencing
Then del/dup

38
Q

Relevence of polyT and TG track in CF

A

In general, I only care about 5T if it is in cis with Arg117His and trans with another allele.
I only care about TG track if it’s high (12 or 13) in cis with 5T and trans with another allele.

39
Q

Dystrophinopathy diagnosis

A

pheno and elevated CK, and/or hemizygous mutation

40
Q

The distinction between DMD and BMD

A

is based on the age of wheelchair dependency: before age 13 years in DMD and after age 16 years in BMD.

41
Q

molecular testing for dystrophinopathies

A

First: targeted del/dup (65-80%)
Then, sequencing
Panel may be appropriate for milder presentations
CMA may be appropriate if contiguous gene deletion syndrome suspected
If no variant found, but still suspected: muscle biopsy for western blot and IHC

42
Q

dystrophinopathy variants rule of thumb

A

pathogenic variants that do not alter the reading frame (in-frame deletions/duplications) generally correlate with the milder BMD phenotype, whereas those that alter the reading frame (out-of-frame) generally correlate with the more severe DMD phenotype

43
Q

Cause of DMD-associated DCM

A

pathogenic variants in DMD that affect the muscle promoter (PM) and the first exon (E1), resulting in no dystrophin transcripts being produced in cardiac muscle

44
Q

DFNB

A

Non-syndromic, AR hearing loss (think connexins)

45
Q

What percent of prelingual deafness is genetic?

A

50% (Most non-syndromic, AR)

46
Q

Most common genetic cause of SNHL

A

CONNEXIN 26 (GJB2). AKA DFNB1. Non-syndromic, AR

47
Q

DFNA

A

AD hearing loss, most post-lingual

48
Q

CONNEXIN 30 (GJB6)

A

Known large deletions associated with AR non-syndromic SNHL

49
Q

dynamic mutation in 5’ UTR

A

FMR1-related

50
Q

dynamic mutation in intron

A

Freidreich’s ataxia, myotonic dystrophy type II

51
Q

dynamic mutation in exon

A

Huntington, SBMA

52
Q

dynamic mutation in 3’ UTR

A

myotonic dystrophy type I

53
Q

Polyglutamine diseases

A

Huntington, SBMA

54
Q

Between X and X weeks gestation external genitalia structures are formed

A

Between 12 and 16 weeks

55
Q

molecular testing for lynch

A

sequencing first, though MSH2 does have about 20% that are del/dup and EPCAM is 100% del/dup

56
Q

MEN2 mutations

A

RET is oncogene

GoF mutations, all missense

57
Q

Which rare cancer gene is next to a kidney gene?

A

TSC2 next to PKD1

58
Q

Fabry testing

A

Enzyme testing best for males, molecular for females

59
Q

Tay Sachs testing

A

enzyme activity, but have to be particular with pregnant women or women on birth control

60
Q

Lip and palate closure dates

A

Lip closure complete by 7-8 w gestation

Palate closure complete by 10-11 w gestation

61
Q

2 subgroups of morality

A

Common (universal), particular (eg professional, public policy)

62
Q

Ethics

A

morality + philosophy

63
Q

utilitariansm

A

goal: most good

64
Q

deontology

A

rules and duties

65
Q

natural law

A

often linked to god.

66
Q

universal prescriptivism

A

motivation (not consequences) that can be applied applied to every similar situation is correct

67
Q

social contractarianism

A

based on our agreements to others. Veil of ignorance.

68
Q

Common rule elements

A
  • compliance by research institutions
  • researchers’ obtaining, waiving, and documenting informed consent
  • Institutional Review Board (IRB) membership, function, operations, review of research, and record keeping.
  • additional protections for pregnant women, in vitro fertilization, and fetuses, prisoners, and children.
69
Q

Heart, limbs, cleft lip done by

A

8 weeks embryonic (10 w gestation)

70
Q

Suspect if HbBarts >15% on newborn screening

A

HbH disease