Psychiatry Flashcards

1
Q

Define psychosis

A

Interruption from reality

  • may affect thought process, thought content, behaviours and/or perceptions
  • manifested by delusions, hallucinations, disorganized thoughts and behaviours, or failed reality testing
  • > sx not dx
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2
Q

Define delusion

A

Fixed false beliefs that fall outside cultural norms

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3
Q

What is schizophrenia characterized by?

A
  • positive sx - delusions, hallucinations
  • negative sx - affective blunting, anhedonia, abolition, alogia
  • cognitive impairment - attention, concentration, processing speed, learning, memory, executive function
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4
Q

Age of onset of psychosis in schizophrenia?

A

late teens to mid-30s

- earlier for men

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5
Q

Genetic risk of schizophrenia?

A

50% when both parents affected

60-84% monozygotic twins

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6
Q

Environmental factors re: schizophrenia?

A
  • perinatal events
  • obstetric complications
  • social stressors
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7
Q

Neurotransmitters re: schizophrenia

A
  • hyperdopaminergic state in D2 striata system = + sx
  • hypodopaminergic state in prefrontal D1 system = cognitive deficits
  • monoamine receptors (serotonin, histamine, muscarinic, alpha-adrenergic) = - sx
  • Ach related to high use of tobacco
  • glutamate and GABA related to some behavioural and cognitive sx
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8
Q

Most common anatomical finding in schizophrenia?

A
  • enlargement of the ventricles
    +/- reduced frontal lobe activation
  • functional circuit disruption (vs. localized dysfunction)
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9
Q

Ddx psychosis -> psychotic disorders

A
  • schizophrenia
  • shizophreniform
  • brief psychotic disorder
  • delusional disorder
  • schizoaffective disorder
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10
Q

Ddx psychosis

A

Psychiatric

  • psychotic
  • mood + psychotic features (MDD, bipolar I)
  • OCD
  • mental retardation
  • autism spectrum
  • personality (Schizotypal, schizoid, borderline, paranoid)
  • malingering, factitious

Substances/medications

  • substance abuse
  • rx medications (e.g. steroids)
  • toxins

General medical conditions

  • CNS - lesions, infections, seizures, strokes
  • Systemic illness - autoimmune, metabolic, endocrine, vitamin deficiency, sepsis
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11
Q

Baseline investigations for schizophrenia

A
  • CBC, lytes, Cr, BUN, LFTs, TSH
  • fasting plasma glucose
  • lipid panel
  • toxicology screen
  • syphilis, HIV

+/- head CT, MRI (re: structural brain abnormalities)
ECG
clinical screening for chromosome 22q11

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12
Q

Timeline re: brief psychotic vs. schizophreniform vs. schizophrenia

A
<1mo = brief psychotic disoder
1-6mo = schizophreniform disorder
>6mo = schizophrenia
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13
Q

Diagnosis for pt with only delusions but not much functional impairment?

A

Delusional disorder

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14
Q

Diagnosis for pt with psychosis plus mood sx with periods lasting at least 2wk of only psychosis and no mood BUT mood sx at least half the time of illness?

A

Schizoaffective disorder

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15
Q

Diagnosis for pt with psychosis plus mood sx but NO periods of at least 2wk of only psychosis and no mood?

A

Depression with psychosis

Bipolar I with psychosis

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16
Q

Criteria A for schizophrenia

A

At least 2 of the following:

  • delusions
  • hallucinations
  • disorganized speech
  • disorganized behaviour
  • -> at least 1 mo and with impairment lasting at least 6mo
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17
Q

Atypical antipsychotic advantages vs. disadvantages

A
  • less chance of extrapyramidal sx and tardive dyskinesias

- increased metabolic s/e

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18
Q

When can clozapine be tried?

A
  • after 2 failed trials of different antipsychotics (6-8wk optimized therapeutic dose)
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19
Q

What is the most efficacious medication to treat schizophrenia? What are the s/e?

A

Clozapine

- regular and consistent monitoring re: agranulocytosis, seizures, myocarditis

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20
Q

Typical antipsychotics

  • indications
  • CI
  • adverse
A

High potency - haloperidol

  • indications: positive sx, pregnancy
  • CI: preexisting movement disorder/ TD
  • adverse: higher risk EPS/TD; hyperprolactinemia

Low potency - chlorpromazine, thioridazine

  • indications: positive sx
  • CI: preexisting movement disorder/ TD
  • adverse: lower risk EPS/TD; postural hypotension, sedation, anticholinergic (blind as a bat, mad as a hatter, dry as a bone, red as a beet, hot as a hare)
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21
Q

Atypical antipsychotics

  • indications
  • CI
  • adverse
A
  • E.g. olanzapine, resperidone, clozapine, quetiapine, aripiprazole
  • indications: positive or negative or cognitive sx; preexisting movement disorders sensitivity (quetiapine or clozapine); treatment refractory (clozapine); suicidality (clozapine)
    CI: diabetes (relative)
  • adverse: low risk EPS/TD; weight gain/ hyperglycemia/ hyperlipidemia/ diabetes/ sedation; agranulocytosis (clozapine - need weekly CBC x6mo then >biweekly CBC); prolonged QT interval (esp. quetiapine - need ECG monitoring)
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22
Q

Psychosocial treatment for management of psychotic/ thought disorders?

A

Supportive therapy

CBT

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23
Q

Define mania

A

Period of severe and sustained elevated mood that leads to disturbed behaviour and function
+/- psychotic sx
hypomania if elevation in mood less severe or more brief

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24
Q

Prevalence bipolar disorder and median age of onset

A

Bipolar I = 0.6%
Bipolar II = 0.4%
Subthreshold disorders = 1.4%

Median age of onset 25yr

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25
Ddx mania/hypomania
Psychiatric - Bipolar disorders (bipolar I or II; cyclothymic) - MDD - Anxiety - Psychotic disorders (schizophrenia, schizoaffective, delusional disorder) - ADHD - Borderline PD Substance/medication-induced - substances (stimulants, EtOH, hallucinogens) - medications (antidepressants, dopamine agonists, steroids) General medical conditions - infectious (HIV, tertiary syphilis) - neurological (stroke, traumatic brain injury, tumor, seizures, multiple sclerosis) - systemic (hyperthyroid, thryotoxicosis, Cushing, SLE)
26
Investigations mania
- CBC, lytes, BUN, Cr, LFTs, TSH - fasting blood glucose - B12/folate - urinalysis, urine drug screen +/- neurologic consultation CXR ECG CT
27
Dx mania
- abnormally and persistently elevated, expansive or irritable mood and increased goal-directed activity or energy for at least 1wk (or any duration if hospitalized) at least 3 sx (4 if mood only irritable) - GSTPPAID - grandiosity - sleep decreased - talkativeness - pleasure activities with painful consequences - pressured speech - activity level increased - ideas (flight of) - distractible mood causes marked impairment sx not due to substance or medical condition - evidence for bipolar I if sx after treatment or drugs but sx continued after tx d/c
28
Dx hypomania
- criterion 1 of manic episode met but duration at least 4d - criteria 2 and 4 manic episode met - episodes associated with uncharacteristic decline in functioning observable by others
29
Bipolar I vs II Disorder
Bipolar I - one manic episode, commonly accompanied by MDE but not MDE not required - not due to schizophrenia, schizophreniform, schizoaffective, delusional or other psychotic disorder Bipolar II - at least one MDE and at least one hypomanic episode without past manic episode - condition not schizophrenia, schizophreniform, schizoaffective, delusional or other psychotic disorder
30
Dx cyclothymia
- numerous periods of hypomanic and depressive sx but not meeting criteria for MDE for at least 2yr (one year in kids, adolescents), never without sx more than 2mo - no MDE, no manic or mixed episodes and no evidence of psychosis - not due to general medical condition or substances - sx cause clinically significant distress or impairment
31
Pharm tx mania
- risperidone - olanzapine - aripiprazole - asenapine - ziprazidone - resperidone IM - divalproex
32
Pharm tx mania and depression
Lithium | Quetiapine
33
Pharm tx depression in bipolar
- Lamotrigine - (Lithium or Divaproex) + (SSRI or bupropion) - Olanzapine + SSRI - Lithium + Divalproex
34
Is depression the leading cause of disability worldwide?
Yes
35
Define mental disorder
- syndrome characterized by clinically significant disturbance in an individual's cognition, emotion, regulation, or behaviour that reflects a dysfunction in the psychological, biologic, or developmental processes underlying mental functioning
36
Main neurotransmitters involved in depression?
- serotonin - norepinephrine - dopamine
37
Main neuropeptides in depression? Roles?
- somatostatin - neuropeptide Y Act as cotransmitters
38
Ddx depression
Psychiatric - depressive disorders (MDD, persistent depressive disorder, premenstrual dysphoric disorder) - bipolar disorders (bipolar I and II, cyclothymic) - psychotic disorders - adjustment disorder with depressed mood - dementia Bereavement Substance of medication induced - medications - substances (EtOH, CNS depressants; stimulant withdrawal) General medical conditions - chronic illness, endocrine (adrenal, thyroid), malignancy, metabolic (electrolyte, vitamins), neurologic (MS, stroke, tumor)
39
Suicide risk factors
``` SAD PERSONS - sex male - age - depression - previous attempt - ethanol or drugs - rational thinking loss - separated, divorced, widowed - organized plan - no social support - stated future intent (e.g. suicide note) +acute risk factors ```
40
Depression investigations
- CBC, lytes, BUN, Cr, LFTs, fasting blood glucose, TSH - toxicology/ drug screen (alcohol, cannabis, opioid, amphetamines/ stimulant, cocaine withdrawal or intoxication) - urinalysis, urine drug screen +/- neurologic consult CXR ECG CT
41
Dx MDD
At least 5 sx (MSIGECAPS) with at least one of depressed mood or anhedonia presented within same 2wk period with change from previous functioning: - mood depressed - sleep increased or decreased - interest decreased (anhedonia) - guilt - energy decreased - concentration decreased - appetite decreased or increased - psychomotor agitation or retardation - suicidal ideation Sx cause clinically significant distress or impairment Sx not due to physiologic effects of substance of GMC Sx not better accounted for by other psychiatric disorders
42
Specifiers MDD
- with anxious distress (two or more: feeling tense, restless, concentration problems, worry something awful might happen, worry lose self-control) - with mixed features (three or more manic or hypomanic sx) - with melancholic features (loss of pleasure in all activities, inability to react to pleasurable stimuli + specific sx) - with atypical features (reactive mood + increased sleep, eating) - with mood-congruent psychotic features (delusions and/or hallucinations has depressive theme) - with mood-incongruent psychotic features (delusions and/or hallucinations present not depressive themes) - with cataonia (motoric immobility, excess motor activity, negativism, mutism, peculiar movements, echolalia, echopraxia) - with peripartum onset (during pregnancy or within 4wk delivery) - with seasonal pattern (particular time of year, full remission at particular time of year, in last 2yr)
43
Predominant affect MDD vs. grief
MDD - depressed mood, inability to anticipate happiness or pleasure Grief - emptiness and loss
44
Dx persistent depressive disorder
Depressed mood for most of day, depressed more days than not, at least 2yr At least two while depressed - poor appetite or overeating - insomnia or hypersomnia - low energy or fatigue - low self-esteem - poor concentration or difficulty in making decisions - feelings of hopelessness During 2yr period never been without sx for more than 2mo at a time Never been manic episode, mixed episode, or hypomanic episode; never met criteria for cyclothymic disorder Disturbance not because persistent psychotic disorder Sx not due to substance of GMC Sx cause clinical distress or impairment
45
Pharm management depressed mood
- Escitalopram (allosteriod serotonin reuptake inhibitor) - Sertraline (SSRI) - Venlafaxine (SNRI) - Duloxetine (SNRI) - Milncipran (SNRI) - Mirtazapine (alpha2-adrenergic agonist, 5HT antagonist)
46
Psychological management depressed mood
- CBT - ITP - other therapies have less evidence for efficacy
47
Define remission and recovery
Remission - 2wk - 2mo with no or very few sx Recovery is absence of sx (no more than one to two) for 2mo or more
48
Define suicide
Act of intentionally terminating one's own life
49
Progression of suicidal behaviour
Ideation -> plan -> intent
50
Ddx suicidal ideation
Psychiatric - mood disorder (depression, bipolar) - psychotic disorder (schizophrenia) - substance use disorder - personality disorder (borderline and antisocial) - anxiety disorder (more common with panic disorder) - delirium (altered level of consciousness, can lead to increase in suicidal behaviour) Psychosocial stressors - adverse childhood experience - change in marital status - change in employment - lacking social support Other - chronic medical conditions (CF, cancer, cirrhosis, etc)
51
Age demographics with highest risk of suicide?
Age >65yr = highest risk | Age 16-19 yr = second highest risk
52
Male vs. female completed and attempted suicide?
M > F (3:1) in completed suicide | F > M (4:1) in attempted suicide
53
Suicide workup investigations
- CBC, lytes, BUN, Cr, fasting blood glucose, LFTs, TSH, toxicology/ drug screen (alcohol, cannabis, opioid, amphetamine/ stimulant or cocaine withdrawal or intoxication) - urinalysis, urine drug screen +/- neurologic consult, CXR, ECG, CT, EEG
54
Treatment suicidal patient
Underlying disorder depression most common - antidepressants - antipsychotics psychotherapy, rehab programs, detox programs
55
Do you need consent from the patient to treat acute agitation?
No
56
Carter vs. Canada ruling (Feb 5 2015)?
- Canadian adults who are competent and suffering intolerably and permanently have the right to doctor's help in dying (then suspended ruling x12mo)
57
What is anxiety?
Human adaptive reaction to external threats by activating sympathetic NS fight-or-flight - alerting signal warning of impending danger - unpleasant, vague feeling of apprehension and often autonomic arousal sx
58
What is fear? vs. anxiety?
Alerting signal to something known, external or definite | vs. anxiety is often unknown, internal and vague
59
When is anxiety pathological?
- fear out of proportion to severity of threat | - social and/or occupational functioning impaired
60
What brain structures responsible for coordinating fear and storing memory for future exposure to same stimuli? Neurotransmitters involved?
Amygdala and hippocampus | - Dopamine, serotonin, glutamine, GABA
61
Ddx anxiety
Psychiatric - anxiety disorders (specific phobia, panic disorder, agoraphobia, generalized anxiety) - depression - somatization disorder - depersonalization disorder - OCD/related disorders - trauma and stress related disorders (acute stress disorders, PTSD) Substance-induced Medical - hyperthyroid, hypothyroid - cardiac (MVP, schema, arrhythmia) - DM - vestibular nerve disease - pheochromocytoma
62
Diagnosis: pt with specific object cue that brings on anxiety >6mo and impairs function?
Specific phobia
63
Diagnosis: pt with specific situational cue that brings on anxiety >6mo and impairs function? - fear negatively evaluated in social situations - fear of anxiety about situations where difficult escape
- social = Social anxiety disorder | - fear of difficult escape = agoraphobia
64
Diagnosis: pt with sx of panic (autonomic sx) with >=1 mo worry about having another panic attack and/or behaviours to avoid panic attack
Panic disorder
65
Diagnosis: pt with excessive worry and anxiety about numerous things for most days at least 6mo and >=3 sx (feeling keyed up, fatigue, concentration issues, irritability, muscle tension, sleep disturbance)
Generalized anxiety disorder
66
Diagnosis: pt with recurrent or unwanted thoughts or repetitive behaviours or mental acts that are time consuming and impairing
Obssessive-compulssive disorder
67
Workup for anxiety disorders and why
``` CBC - r/o anemia, infection lytes - r/o lyte imbalance BUN, Cr - r/o renal failure fasting blood glucose - r/o hyper/hypo glycemia TSH - r/o hyper/hypothyriodism Urinalysis - street drugs ```
68
Biological tx anxiety disorders
SSRIs - first line - may initially exacerbate anxiety, start low and go slow SNRIs - first line Mirtazapine Benzodiazepines - often in emergency tx - caution: sedation, cognitive effects, dependence - abrupt withdrawal may be dangerous (seizures, DTs) TCAs MAOIs Buspirone - generalized anxiety efficacy (not for panic)
69
Psychological tx anxiety disorders
CBT | Behavioural (exposure) therapy
70
Define delusion of control
- delusional belief one's actions, behaviour, or feelings are not under personal control or own doing, but imposed by external force
71
Define delusion of guilt or sin
- delusional believe of responsibility for tragedy or disaster to which there is no personal connection
72
Define delusion of grandiosity
- delusional belief of special power, taken, abilities, or identity
73
Define delusion of jealousy
- with little or no evidence, person believes one's sexual partner is unfaithful
74
Define delusion of mind reading
- delusional belief that people can read one's mind or know one's thoughts (note different from thought broadcasting)
75
Define delusion of persecution
- delusional belief that one is in danger, being followed or monitored, harassed or conspired against
76
Define delusion of reference
- delusional belief that ordinary, insignificant comments, objects or events refer to or have special meaning for the patient
77
Define delusion of replacement
- delusional belief that someone important to the patient has been replaced by a double
78
Define erotomania
- delusional belief that one is loved, perhaps secretly, by another person; usually other person is higher status that pt
79
Define nihilistic delusion
- delusional belief that the person, a part of the person's body, or the world does not exist
80
Define somatic delusion
- delusional belief that one's body is diseased or changed
81
Define thought broadcasting
- delusional belief that as thoughts occur they escape from the person's head and can be heard by others
82
Define thought insertion
- delusional belief that thoughts are not one's own, but have been placed there by some person, group, or force from the outside
83
Define thought withdrawal
- delusional belief that one's thoughts have been removed or taken away by someone or something from the outside
84
Hypnogogic vs. hypnopompic hallucination
- hypnogogic - when pt falling asleep as is pseudo-hallucination; only significant to dx abnormal sleep states (not psychopathological) - hypnopompic - analogous to hypnogogic but occurs upon awakening
85
Types of affect?
- blunted - constricted - flat (more severe than blunted) - inappropriate - labile
86
Ddx psychiatric causes weight loss re: eating disorders
- anorexia nervosa - bulimia nervosa - pica - avoidant/restrictive food intake disorder
87
Signs of purging?
Teeth: enamel erosion, chipped/ ragged, dental caries | Salivary gland hypertrophy (parotid)
88
Signs of starvation?
Lanugo hair (fine downy) Emaciation Peripheral edema
89
Investigations re: eating disorders?
- r/o medical illness - r/o physiologic comorbidities induced by eating disorder CBC, basic and extended lytes, LFTs, TSH, ECG
90
Dx anorexia nervosa
- Persistent restriction of energy intake vs. requirements = significantly low body weight (less than minimally expected) - Intense fear of gaining weight or becoming fat, persistent behaviour that interfere with weight gain - distorted self-perception, overvalued significance of body weight and shape on self-evaluation, or lack of insight into significance of low body weight Specify: - restricting type: in past 3mo no binge eating or purging - binge-eating purging type: in past 3mo has recurrent binge eating or purging behaviour ``` Mild = BMI >17 Moderate = BMI 16-16.9 Severe = BMI 15-15.9 Extreme = BMI <15 ```
91
Dx bulimia nervosa
- Recurrent episodes of binge eating, consuming more than normal person and which is accompanied by sense of lack of control - Recurrent inappropriate compensatory behaviours to prevent weight gain (vomiting, laxatives, excessive exercise, restricting intake) - Self-evaluation is unduly influenced by body shape and weight - Episodes of inappropriate compensatory behaviours occur on average: 1-3x/wk (mild) 4-7x/wk (moderate) 8-13x/wk (severe) >14x/wk (extreme)
92
Dx: pt with normal body weight, episodes of binge eating but no purging behaviours?
Binge-eating disorder
93
Dx pt with low body weight but no fear of gaining weight or behaviours to prevent weight gain?
Unspecified eating disorder
94
Dx patient eating non-food substances?
Pica
95
Dx weight loss but no preoccupation with body weight/ image?
Avoidant/ restrictive food intake disorder or unspecific eating disorder
96
Management eating disorders
- outpatient psychotherapy is cornerstone -> CBT - SSRI and antipsychotics limited role some evidence SSRI with bulimia (decrease binge and purging episodes) - combo SSRIs + psychotherapy best - manage complications (e.g. osteoporosis)
97
Epidemiology substance use problems?
10% population | - up to 50% psychiatric disorders
98
10 classes of drugs in DSM-V?
- EtOH - caffeine - cannabis - hallucinogens - inhalants - opioids - sedatives, hypnotics, anxiolytics - stimulants - tobacco - other (or unknown) substances
99
Neurotransmitters involved with brain reward system (i.e. substance abuse)? Brain areas involved?
- Opioid - Dopamine - GABA Mesolimbic, hippocampus, amygdala, thalamo-orbitofrontal, anterior cingulate, frontal cortex regions
100
Genetic factors with any substance use disorders?
EtOH
101
Anticholinergic toxidrome
- Blind as a bat, dry as a bone, hot as a hare, red as a beet, mad as a hatter Substances - antihistamines - antiparkinson - antipsychotics - benztropine - carbamazepine - TCAs Sx - agitation - delirium - hallucination - memory loss - urinary retention - visual disturbance Signs - HTN - hyperthermia - tachycardia - flushing - mydriasis - decreased bowel sounds - seizures
102
Cholinergic toxidrome
Substances - anticholinesterase inhibitors - insecticides - nerve gases Sx - confusion - lacrimation/ salivation - vomiting - diarrhea - increased urination Signs - bradycardia - hypotension - hypothermia - diaphoresis - miosis - seizures
103
Opioid and sedative-hypnotic toxidromes
Substances - opioids - benzodiazepines - EtOH - sedatives/hypotics Sx - altered mental status - confusion - delirium - coma Signs - hypotension - hypothermia - respiratory depression - miosis (opioids) - hyporeflexia
104
Neuroleptic malignant syndrome
Substances - antipsychotics - levodopa - lithium - desipramine - phenelzineu Sx - fever - diaphoresis - muscles cramps and stiffness - tremors - agitation - delirium - coma Signs - hypertensive crisis - muscle rigidity - rhabdomyolysis - elevated WBC - elevated CPK - metabolic acidosis
105
Serotonin syndrome
Substances - antidepressants: SSRI, SNRI, MAOI, TCA, bupropion, trazodone, mirtazapine - opioids: fentanyl, meperidine, oxycodone, tramadol - amphetamines - cocaine - methylphenidate - LSD Sx - diaphoresis - diarrhea - headache - agitations - hallucinations - coma Signs - hypertension - hypethermia - mydriasis - hyperreflexia - myoclonus - clonus
106
Sympathomimetic toxidrome
Substances - amphetamines - caffeine - cocaine - ephedrine/ pseudoephedrine - LSD - PCP Sx - diaphoresis - n/v - anxiety - delusions - paranoid Signs - hypertension - tachycardia - mydriasis - hyperreflexia - seizures
107
Substance use disorders investigations
- serum and urine toxicology screens - CBC + differential, lytes, BUN, Cr, LFTs, TSH, fasting plasma glucose, lipid panel, etc. - communicable diseases (hepatitis, syphilis, HIV) +/- ECG, EEG, CT head, MRI
108
Treatment EtOH use disorder
CIWA protocol - diazepam 20mg PO q1-2h or 2-5mg IV/min until sx abate - if elderly, liver impairment, severe asthma or resp failure -> use lorazepam 1-2mg PO/SL tid-qid +/- anti epileptics if seizure antipsychotics if hallucinations supportive care re: hydration and sx management
109
Treatment opioid use disorder
- Naloxone 2mg bolus IV/IM/SL/SC increase by 2mg increments until sx abate (max 10mg) methadone for detox and maintenance
110
Treatment tobacco use disorder
Nicotine replacement therapies - patch (7-21mg) - gum (2mg q1h - max 20 pieces per day) - lozenge (1mg q1h - max 20/d) - inhaler (4mg - max 12/d) Varenicline Bupropion
111
Treatment __ use disorders | cannabis, stimulants, hallucinogens, caffeine, implants, sedatives, hypnotics, anxiolytics
- supportive care for hydration and sx management for acute intoxication or withdrawal - GI decontamination - benzodiazepine for seizures or agitation - b-blockers for HTN - vasopressors for hypotension - anti arrhythmic for dysrythmias - antipsychotics for psychotic sx
112
Substance use disorders psychological and social tx options?
- many psychological tx (motivational interviewing, CBT, DBT, etc.) - social tx: detox centres, residential tx centres, etc, AA, Narcotics anonymous, etc.
113
What are neurodevelopment disorders as per DSM-V?
- developmental deficits that result in impairment in personal, social, academic, or occupational functioning
114
What is intellectual disability?
- objectively confirmed deficits in intellectual function and deficits in adaptive functioning with onset during developmental period
115
What week GA does brain development begin?
3rd wk GA | - continues to late adolescence/ early adulthood
116
When are fundamental structures of brain established by in wk GA?
By end of embryonic period (8th wk GA) with growth and refinement through fetal development
117
In utero vs. postnatal causes of DD?
In utero: - disruption of gene expression (trisomy 21, fragile X) - environmental input (FASD, congenital infection) Postnatal: - CP, postnatal infection re: brain development continues after birth
118
What medical disorders are prevalent in DD?
- cardiac disease: CAD, congenital - respiratory disease: aspiration pneumonia, OSA - GI: GERD, GI/feeding issues - neurologic: seizures/epilepsy, early onset dementia - endocrine: hypothyroidism, hypogonadism
119
What is cerebral palsy?
- static neurological condition characterized by motor and occasionally intellectual impairment - brain injury before completion of neurodevelopment (first 2 years of life)
120
Health surveillance in pt with down syndrome?
Each visit: sx celiac disease; OSA screen; cervical spine positioning precautions; sx myopathy Annual: TSH, hemoglobin, audio logic exam, exam for acquired mitral/aortic valve disease q3yr: ophthalmologic assessment for cataracts, refractive errors, corneal thinning or haze
121
Down syndrome: etiology, investigations
etiology - sporadic trisomy 21 in 95% cases - unbalanced translocation 3-4%, 25% of these familial - mosaicism 1-2% inv - FISH study - positive result followed by chromosomal analysis for translocations
122
Dx pt with: small head, flattened facial features, protruding tongue, upward slanting eyes, single palmar crease, short fingers
Down syndrome
123
Fragile X: etiology, investigations
etiology - CGG trinucleotide repeat of FMR1 gene on X chromosome inv - PCR to assess trinucleotide repeats
124
Dx pt with: long face, long ears, hyper extensible joints, macroorchidism, flat feet, ADHD, autism, speech delay, social anxiety
Fragile X
125
Cerebral palsy: etiology and investigations
etiology - non progressive neurological condition resulting from brain injury prenatally or in first 2yr life - 70-80% prenatal of unknown cause - 10-20% postnatal from infections of brain trauma inv - clinical dx based on history, physical exam, exclusion of progressive neurologic disorders
126
Dx pt with: hyperreflexia, hypertonia, scissors gait, toe walking (70-80% presentations) +/- global developmental and physical dysfunction or isolated disturbances of gait, cognition or sensation
Spasticity - cerebral palsy
127
Dx pt with: slow, writhing movements (10-20% presentations) | +/- global developmental and physical dysfunction or isolated disturbances of gait, cognition or sensation
Athetosis - cerebral palsy
128
Dx pt with: wide-based gait, intention tremor (5-10% presentations) +/- global developmental and physical dysfunction or isolated disturbances of gait, cognition or sensation
Ataxia - cerebral palsy
129
Fetal alcohol syndrome/ spectrum disorder: etiology and investigations
etiology - syndrome: combination of characteristic physical and CNS abnormalities - spectrum disorder: range of effects resulting from alcohol exposure inv - confirmed maternal EtOH exposure and characteristic facial, growth, CNS, and/or cognitive impairment FAS without confirmed EtOH exposure dx if facial anomalies, growth retardation and CNS abnormalities all present
130
Dx pt with: short palpebral fissures, flat upper lip, flattened philtre, flat mid face + growth retardation + microcephaly, structural CNS abnormalities, neurologic hard/soft signs + behavioural/cognitive difficulties
Fetal alcohol syndrome/ spectrum disorder
131
Autism spectrum disorder: etiology and investigations
etiology - definitive etiology not established - 15% associated with known genetic mutation - environmental risk factors include advanced paternal age, low birth weight, fetal exposure to valproate inv - clinical dx using caregiver interviews, questionnaires and clinical observation tools
132
Dx pt with: deficits in social communication/ interaction and restricted, repetitive behaviours, interests or activities + specify if accompanying intellectual impairment or language impairment
Autism spectrum disorder - without language deficit previously Aspergers
133
Do you need objective standardized intelligence testing to dx intellectual disability with DSM-V?
Yes
134
Management of behaviour problems with DD?
- behavioural/ psychological interventions (first line) - all psychotropic medications (with confirmed psych disorder - depression, anxiety, ADHD) - atypical antipsychotics - attempt use <72h - Resperidone for ASD control of behaviour
135
Define sexual dysfunction & categories
disturbance in sexual interest, arousal or achieving orgasm - male erectile dysfunction - female orgasmic disorder - female sexual interest/arousal disorder - male hypoactive sexual desire disorder
136
Define sexual paraphilia
- sexual arousal, fantasies, sexual urges or behaviour involving nonhuman objects, suffering or humiliation of oneself or one's partner, children or others - often pt has more than one paraphilia - women 5%
137
Define gender dysphoria
- strong and persistent cross-gender identification with repeated stated desire or insistence that one is opposite sex children vs. adolescents and adult criteria - gender identity set by age 2-3 yr
138
Subtypes of sexual paraphilia
- exhibitionism - fetishism - frotteurism - voyeurism - pedophilia - sexual masochism - sexual sadism - transvestite fetishism - paraphilia NOS (necrophilia, zoophilia, coprophilia, urophilia)
139
Gender dysphoria lab work
CBC, lytes, BUN, Cr, fasting blood glucose, LFTs, TSH, toxicology/ drug screen (EtOH, opioid, amphetamines/ stimulants, cocaine withdrawal/ intoxication) FSH/LH, GH
140
Gender dysphoria tx
- testosterone to control sexuality, fantasies, behaviour - antiandrogenic drugs to reduce sex drive in men (s/e) - SSRIs and lithium to reduce impulse control problems and/or sexual obsessions - psychostimulants to augment SSRIs (paraphilia disorder) - psychotherapy
141
What are PDs?
- enduring pattern of inner experience and behaviour that deviates markedly from expectations of culture; manifested in 2+ cognition, affect, interpersonal functioning and impulse control - inflexible and pervasive across range of situations
142
Paranoid PD dx | - cluster A (mad)
``` SUSPECT >=4 Spouse fidelity suspected Unforgiving and bearing grudges Suspicious of others Perceives attack on his/her character not apparent to others and reacts quickly Enemy or friend Confides in others feared Threats perceived in benign events ```
143
Schizoid PD dx | - cluster A (mad)
``` SOLITARY >=4 (negative sx) Shows emotional coldness to others Omits from social events Lacks friends Involved in solitary activities Takes pleasure in few activities Appears indifferent from praises and criticism Restricts from close relationship Yanks himself or herself from social interactions ```
144
Schizotypal PD dx | - cluster A (mad)
``` ME PECULIAR >=5 (ideas of reference) Magical thinking or odd beliefs Experiences unusual perceptions Paranoid ideation Eccentric behaviour/ appearance Constricted/inappropriate affect Unusual (odd) thinking and speech Lacks close friends Ideas of reference Anxiety in social situations Rule out psychotic disorders and pervasive developmental disorder ```
145
Antisocial PD dx | - cluster B (bad)
``` CORRUPT >=3 (criminal aggressive) Conformity to law lacking Obligations ignored Reckless disregard for safety of self or others Remorse lacking Underhandedness (deceitful, lies, cons) Planning deficit (impulsive) Temper (irritable, aggressive) ```
146
Borderline PD dx | - cluster B (bad)
``` AM SUICIDE >=5 (affect lability suicide) Abandonment Mood instability Suicide and/or self-harming behaviour Unstable and intense relationship Impulsivity (self-damaging areas) Can't control anger Identity disturbance Dissociative sx Emptiness ```
147
Histrionic PD dx | - cluster B (bad)
PRAISE ME >=5 (centre of attention, emotional lability) Provocative or sexually seductive behaviour Relationship considered more intimate than they are Attention (uncomfortable when not centre) Influenced easily Style of speech (impressionistic, lacks details) Emotional liability and shallowness Make up (physical appearance used to draw attention) Exaggerated emotions (theatrical)
148
Narcissistic PD dx | - cluster B (bad)
SPECIAL >=5 (self-importance, entitlement) Special - believes special and unique, status (high) Preoccupied with fantasies of unlimited success, power, brilliance, beauty or ideal love Entitlement (strong sense), envious Conceited (grandiose sense of self-importance) Interpersonal exploitation Arrogant Lacks empathy
149
Avoidant PD dx | - cluster C (sad)
AVOIDER >=4 (social phobia) Avoid occupational activities View self as inept, unappealing or inferior Occupies with fear of rejection or criticism in social situations Inhibits from new interpersonal relationships Difficulty initiating new projects due to lack of self confidence Embarrassment prevents new activity or taking personal risks Restraints in intimate relationships due to fear of being shamed
150
Dependent PD dx | - cluster C (sad)
DEPENDENT >=5 (separation anxiety) Difficulty making everyday decisions without advice and reassurance form others Excessive length to obtain nurturance and support Preoccupied with thoughts of taking care of self Exaggerated fears of being left to care for self Needs others to assume responsibility for most major areas of life Difficulty in expressing disagreement Ending one relationship immediately and seeking urgently for another Not able to initiate projects due to lack of self-confidence Take care of me is motto
151
Obsessive-Compulsive PD dx | - cluster C (sad)
LAW FIRMS >=4 (obsessive-compulsive behaviour) Loses point of activity due to preoccupation with details Ability to complete tasks compromised by perfectionism Worthless objects unable to discard Friendships and leisure activities excluded due to preoccupation with work Inflexible, scrupulous, overly conscientious on ethics, values or morality; not accounted for by religion or culture Reluctant to delegate unless others submit to exact guidelines Miserly toward self and others Stubbornness and rigidity
152
Excessive daytime sleepiness vs. fatigue
- daytime sleepiness: inability to stay alert during day; falling asleep inappropriately during day (e.g. driving) - fatigue: subjective lack of energy
153
STOP BANG screen for OSA
- snoring - tired - observed apneas - blood Pressure - BMI >35kg/m2 - age >60 - neck circumference >40cm - male Gender >=3 -> high risk
154
Define fatigue
- state of extreme weariness
155
Categories of abuse
- physical - sexual - emotional/ psychological - economic elderly + abandonment, neglect and self-neglect