Psychiatry Flashcards
Define psychosis
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
Define delusion
Fixed false beliefs that fall outside cultural norms
What is schizophrenia characterized by?
- positive sx - delusions, hallucinations
- negative sx - affective blunting, anhedonia, abolition, alogia
- cognitive impairment - attention, concentration, processing speed, learning, memory, executive function
Age of onset of psychosis in schizophrenia?
late teens to mid-30s
- earlier for men
Genetic risk of schizophrenia?
50% when both parents affected
60-84% monozygotic twins
Environmental factors re: schizophrenia?
- perinatal events
- obstetric complications
- social stressors
Neurotransmitters re: schizophrenia
- 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
Most common anatomical finding in schizophrenia?
- enlargement of the ventricles
+/- reduced frontal lobe activation - functional circuit disruption (vs. localized dysfunction)
Ddx psychosis -> psychotic disorders
- schizophrenia
- shizophreniform
- brief psychotic disorder
- delusional disorder
- schizoaffective disorder
Ddx psychosis
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
Baseline investigations for schizophrenia
- 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
Timeline re: brief psychotic vs. schizophreniform vs. schizophrenia
<1mo = brief psychotic disoder 1-6mo = schizophreniform disorder >6mo = schizophrenia
Diagnosis for pt with only delusions but not much functional impairment?
Delusional disorder
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?
Schizoaffective disorder
Diagnosis for pt with psychosis plus mood sx but NO periods of at least 2wk of only psychosis and no mood?
Depression with psychosis
Bipolar I with psychosis
Criteria A for schizophrenia
At least 2 of the following:
- delusions
- hallucinations
- disorganized speech
- disorganized behaviour
- -> at least 1 mo and with impairment lasting at least 6mo
Atypical antipsychotic advantages vs. disadvantages
- less chance of extrapyramidal sx and tardive dyskinesias
- increased metabolic s/e
When can clozapine be tried?
- after 2 failed trials of different antipsychotics (6-8wk optimized therapeutic dose)
What is the most efficacious medication to treat schizophrenia? What are the s/e?
Clozapine
- regular and consistent monitoring re: agranulocytosis, seizures, myocarditis
Typical antipsychotics
- indications
- CI
- adverse
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)
Atypical antipsychotics
- indications
- CI
- adverse
- 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)
Psychosocial treatment for management of psychotic/ thought disorders?
Supportive therapy
CBT
Define mania
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
Prevalence bipolar disorder and median age of onset
Bipolar I = 0.6%
Bipolar II = 0.4%
Subthreshold disorders = 1.4%
Median age of onset 25yr
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)
Investigations mania
- CBC, lytes, BUN, Cr, LFTs, TSH
- fasting blood glucose
- B12/folate
- urinalysis, urine drug screen
+/- neurologic consultation
CXR
ECG
CT
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
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
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
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
Pharm tx mania
- risperidone
- olanzapine
- aripiprazole
- asenapine
- ziprazidone
- resperidone IM
- divalproex
Pharm tx mania and depression
Lithium
Quetiapine
Pharm tx depression in bipolar
- Lamotrigine
- (Lithium or Divaproex) + (SSRI or bupropion)
- Olanzapine + SSRI
- Lithium + Divalproex
Is depression the leading cause of disability worldwide?
Yes
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
Main neurotransmitters involved in depression?
- serotonin
- norepinephrine
- dopamine
Main neuropeptides in depression? Roles?
- somatostatin
- neuropeptide Y
Act as cotransmitters
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)
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
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
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
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)
Predominant affect MDD vs. grief
MDD - depressed mood, inability to anticipate happiness or pleasure
Grief - emptiness and loss
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
Pharm management depressed mood
- Escitalopram (allosteriod serotonin reuptake inhibitor)
- Sertraline (SSRI)
- Venlafaxine (SNRI)
- Duloxetine (SNRI)
- Milncipran (SNRI)
- Mirtazapine (alpha2-adrenergic agonist, 5HT antagonist)
Psychological management depressed mood
- CBT
- ITP
- other therapies have less evidence for efficacy
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
Define suicide
Act of intentionally terminating one’s own life
Progression of suicidal behaviour
Ideation -> plan -> intent
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)
Age demographics with highest risk of suicide?
Age >65yr = highest risk
Age 16-19 yr = second highest risk
Male vs. female completed and attempted suicide?
M > F (3:1) in completed suicide
F > M (4:1) in attempted suicide
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
Treatment suicidal patient
Underlying disorder
depression most common
- antidepressants
- antipsychotics
psychotherapy, rehab programs, detox programs
Do you need consent from the patient to treat acute agitation?
No
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)
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
What is fear? vs. anxiety?
Alerting signal to something known, external or definite
vs. anxiety is often unknown, internal and vague
When is anxiety pathological?
- fear out of proportion to severity of threat
- social and/or occupational functioning impaired
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
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
Diagnosis: pt with specific object cue that brings on anxiety >6mo and impairs function?
Specific phobia
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
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
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
Diagnosis: pt with recurrent or unwanted thoughts or repetitive behaviours or mental acts that are time consuming and impairing
Obssessive-compulssive disorder
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
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)
Psychological tx anxiety disorders
CBT
Behavioural (exposure) therapy
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
Define delusion of guilt or sin
- delusional believe of responsibility for tragedy or disaster to which there is no personal connection
Define delusion of grandiosity
- delusional belief of special power, taken, abilities, or identity
Define delusion of jealousy
- with little or no evidence, person believes one’s sexual partner is unfaithful
Define delusion of mind reading
- delusional belief that people can read one’s mind or know one’s thoughts
(note different from thought broadcasting)
Define delusion of persecution
- delusional belief that one is in danger, being followed or monitored, harassed or conspired against
Define delusion of reference
- delusional belief that ordinary, insignificant comments, objects or events refer to or have special meaning for the patient
Define delusion of replacement
- delusional belief that someone important to the patient has been replaced by a double
Define erotomania
- delusional belief that one is loved, perhaps secretly, by another person; usually other person is higher status that pt
Define nihilistic delusion
- delusional belief that the person, a part of the person’s body, or the world does not exist
Define somatic delusion
- delusional belief that one’s body is diseased or changed
Define thought broadcasting
- delusional belief that as thoughts occur they escape from the person’s head and can be heard by others
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
Define thought withdrawal
- delusional belief that one’s thoughts have been removed or taken away by someone or something from the outside
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
Types of affect?
- blunted
- constricted
- flat (more severe than blunted)
- inappropriate
- labile
Ddx psychiatric causes weight loss re: eating disorders
- anorexia nervosa
- bulimia nervosa
- pica
- avoidant/restrictive food intake disorder
Signs of purging?
Teeth: enamel erosion, chipped/ ragged, dental caries
Salivary gland hypertrophy (parotid)
Signs of starvation?
Lanugo hair (fine downy)
Emaciation
Peripheral edema
Investigations re: eating disorders?
- r/o medical illness
- r/o physiologic comorbidities induced by eating disorder
CBC, basic and extended lytes, LFTs, TSH, ECG
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
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)
Dx: pt with normal body weight, episodes of binge eating but no purging behaviours?
Binge-eating disorder
Dx pt with low body weight but no fear of gaining weight or behaviours to prevent weight gain?
Unspecified eating disorder
Dx patient eating non-food substances?
Pica
Dx weight loss but no preoccupation with body weight/ image?
Avoidant/ restrictive food intake disorder or unspecific eating disorder
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)
Epidemiology substance use problems?
10% population
- up to 50% psychiatric disorders
10 classes of drugs in DSM-V?
- EtOH
- caffeine
- cannabis
- hallucinogens
- inhalants
- opioids
- sedatives, hypnotics, anxiolytics
- stimulants
- tobacco
- other (or unknown) substances
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
Genetic factors with any substance use disorders?
EtOH
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
Cholinergic toxidrome
Substances
- anticholinesterase inhibitors
- insecticides
- nerve gases
Sx
- confusion
- lacrimation/ salivation
- vomiting
- diarrhea
- increased urination
Signs
- bradycardia
- hypotension
- hypothermia
- diaphoresis
- miosis
- seizures
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
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
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
Sympathomimetic toxidrome
Substances
- amphetamines
- caffeine
- cocaine
- ephedrine/ pseudoephedrine
- LSD
- PCP
Sx
- diaphoresis
- n/v
- anxiety
- delusions
- paranoid
Signs
- hypertension
- tachycardia
- mydriasis
- hyperreflexia
- seizures
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
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
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
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
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
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.
What are neurodevelopment disorders as per DSM-V?
- developmental deficits that result in impairment in personal, social, academic, or occupational functioning
What is intellectual disability?
- objectively confirmed deficits in intellectual function and deficits in adaptive functioning with onset during developmental period
What week GA does brain development begin?
3rd wk GA
- continues to late adolescence/ early adulthood
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
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
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
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)
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
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
Dx pt with: small head, flattened facial features, protruding tongue, upward slanting eyes, single palmar crease, short fingers
Down syndrome
Fragile X: etiology, investigations
etiology
- CGG trinucleotide repeat of FMR1 gene on X chromosome
inv
- PCR to assess trinucleotide repeats
Dx pt with: long face, long ears, hyper extensible joints, macroorchidism, flat feet, ADHD, autism, speech delay, social anxiety
Fragile X
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
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
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
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
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
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
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
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
Do you need objective standardized intelligence testing to dx intellectual disability with DSM-V?
Yes
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
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
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%
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
Subtypes of sexual paraphilia
- exhibitionism
- fetishism
- frotteurism
- voyeurism
- pedophilia
- sexual masochism
- sexual sadism
- transvestite fetishism
- paraphilia NOS (necrophilia, zoophilia, coprophilia, urophilia)
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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
STOP BANG screen for OSA
- snoring
- tired
- observed apneas
- blood Pressure
- BMI >35kg/m2
- age >60
- neck circumference >40cm
- male Gender
>=3 -> high risk
Define fatigue
- state of extreme weariness
Categories of abuse
- physical
- sexual
- emotional/ psychological
- economic
elderly + abandonment, neglect and self-neglect
