1
Q
What does evidence depend on in genetic linkage?
A
Recombination frequency
Measured by recombination fraction, equal to genetic distance between two loci.
2
Q
1% recombination equals how many centimorgans (cM) in genetic distance?
A
1 cM
1 cM corresponds to 1 megabase (mb) of DNA.
3
Q
Genes are said to independently assort when at a distance of more than _______ cM.
A
> 50 cM
This corresponds to a recombination frequency of 0.5 or 50%.
4
Q
What are the prime sites associated with DBS for OCD?
A
- Anterior limb of internal capsule
- Ventral striatum
- Ventral capsule
- NAc
- Bed nucleus stria terminalis
The second choice is the subthalamic nucleus (STN).
5
Q
What are the prime sites associated with DBS for depression?
A
- Subgenual cingulate gyrus
The second choice is the subthalamic nucleus (STN).
6
Q
In fragile X syndrome, why are symptoms less severe in full mutation females?
A
Due to X inactivation
The unaffected X chromosome is favored, leading to adverse lyonization.
7
Q
What are the elevated inflammatory biomarkers associated with depression?
A
- IL-1B
- IL-6
- TNF
- CRP
These biomarkers indicate inflammation in depressive disorders.
8
Q
In chronic major depressive disorder (MDD), how is the HPA axis affected?
A
Not affected
Chronic MDD lasting more than 2 years shows no alteration in the HPA axis.
9
Q
The severity of depressive symptoms is proportionate to _______ levels.
A
Cortisol
More severe melancholic or psychotic presentations tend to be hypercortisolemic.
10
Q
Hypercortisolaemia in depression suggests dysregulation in
A
decr inhibitory 5HT tone
incr NA/ACh/CRH drive
decr feedback inhibition from HPC Cortisol
More severe melancholic or psychotic presentations tend to be hypercortisolemic.
11
Q
Effect of melatonin on sleep
A
Reduces tonic activity during rem sleep and decreases number of stage shifts
GH levels decrease in later phases of sleep.
12
Q
What is the role of testosterone in sleep?
A
Peaks in middle of cycle, around REM onset
Insufficient or fragmented sleep blocks nocturnal testosterone increase.
13
Q
What happens to GH levels during sleep?
A
Elevated in earlier part of sleep (SWS)
GH levels decrease in later phases of sleep.
14
Q
Neuromodulator control of sleep in response to fading light?
A
LC NA and RN 5HT released onto LH neurons - reduces orexin release –> wakefulness no longer stabilised; –> VL pre optic nucleus and GABA then suppress arousal
15
Q
Neuromodulator levels during sleep phases
A
ACh - lowest in N3, highest in REM
DA, NA, 5HT, H - peak in N2, lowest in REM
16
Q
What is the effect of hypnotics like benzodiazepines on sleep?
A
- Decrease sleep latency
- Increase sleep time
- Decrease N1, N3, REM
- Increase N2
REM rebound occurs upon cessation of use.
17
Q
Neonates typically sleep how many hours a day?
A
16-20 hours; 50% is REM
50% of their sleep is spent in REM.
18
Q
What is the predominant EEG pattern in infants?
A
Irregular medium-high voltage delta; with development, frequency and rhythmicity increases
With development, frequency and rhythmicity increase.
19
Q
EEG through childhood?
A
Early childhood - Upper theta and lower alpha in posterior areas by early childhood
Adolescence - EEG has appearance of adult tracing
20
Q
What is the normal waking EEG pattern?
A
- Alpha on eyes closed
- Beta waves can be seen
- Delta should not be seen
This indicates a healthy brain state.
21
Q
Effect of antipsychotics on EEG
A
sLOWED beta
incr alpha, theta, delta power
22
Q
Effect of BDZs on EEG
A
Significant diffuse beta
23
Q
What is the EEG pattern in Angelman syndrome?
A
Abnormal EEG in 80-90%
Onset occurs between 1-3 years with epilepsy.
24
Q
What characterizes N1 sleep in an EEG?
A
- Disappearance of posterior alpha
- Appearance of theta and delta
- Lasts only a few minutes but can recur briefly
Can recur briefly with hypnic jerks or hypnagogic hallucinations.
25
What characterizes **N2 sleep** in an EEG?
* Sleep spindles (0.5 s fast phase, max at vertex)
* K complexes - symmetrical high voltage vertex waves
* Accounts for 45-55% total sleep in adults
26
What characterizes **N3 sleep** in an EEG?
* Emergence of delta waves and slow waves
* Parasomnias may occur
* lasts 30-45 mins before reverting to N2
27
What are the characteristics of **REM sleep** in an EEG?
* Low voltage, desynchronized EEG
* Saw-tooth waves
* Muscle atonia
* Episodic rapid eye movements
## Footnote
Occasional bursts of EMG may occur with phasic eye movements.
28
What is the EEG finding in **hepatic encephalopathy**?
Triphasic waves - 1.5 - 3 Hz, initiated by blunt or rounded spike-like transient
[note also found in other metabolic encephalopathies]
## Footnote
Generalized synchronous waves in brief runs of 1.5-3 Hz.
29
Interictal EEG
Normal in 30-50% epileptics
epileptiform abnormalities in 29-55% in focal epilepsies
30
EEG of subacute sclerosing panencephalitis
High amplitude repetitive bilaterally synchronous periodic polyphasic sharp-wave complexes
or burst suppression pattern
31
CJD EEG
Early - disorganised background, increased slow waves (focal or generalised)
Progression - emergence of periodic sharp waves (1-2 Hz, absent in vCJD), or triphasic or biphasic waves every second
32
What is the genetic basis of **Lesch-Nyhan syndrome**?
X-linked recessive HGPRT mutation
## Footnote
Symptoms include hyperuricemia, hypotonia, and severe compulsive self-mutilation.
33
What is the **most common congenital heart defect** associated with Down syndrome?
Endocardial cushion defect
## Footnote
Other defects include VSD, secundum ASD, TOF, and isolated PDA.
34
What is the **COMT locus** location?
22q11
## Footnote
This locus is associated with various psychiatric conditions.
35
What is the formula for **Hardy-Weinberg equilibrium**?
p2 + 2pq + q2 = 1
## Footnote
This formula is used to calculate allele frequencies in a population.
36
What is the risk of developing **schizophrenia** if a sibling is affected?
9-10%
## Footnote
This indicates a genetic component to the disorder.
37
TMS coil position in depression
Left dlPFC
38
Effect of ECT on adrenergic receptors
down regulate postsynaptic beta adrenergcis
39
Horizontal cells of Cajal in which cortical layer
L1
40
Small vs. large pyramidal in which cortical layers
L2,3 - small
L5 - large
41
Cells in L4 cortex
Stellate and fusiform - receive thalamic input
42
Cerebellar cortex layers and cells
Molecular - basket and stellate
Purkinje
Granular - granule, Golgi
43
Location of mirror neurons
Inferior frontal cortex
Superior parietal cortex
44
Neuronal size typing by axon length
Golgi 1 = long
Golgi 2 = short, terminates near parent cell
Amacrine = no axon
45
What are Rosenthal fibres
densely eosinophilic astrocytic processes - fill with glial intermediate filaments + electron-dense structures of alpha-B-crystallin
characteristic of Alexander disease
46
What is Alexander disease
AD megalencephalic leukodystrophy
47
Perfusion of HPC
PCA collaterals
anterior choroidal
48
Satiety vs Feeding centres in hypothalamus
VM - satiety
LH - feeding
49
Social valuation areas
OFC
Temporoparietal junction
Anterior cingulate
Fusiform gyrus
50
Less common Down's cardiac malformations
VSD - 1/3
Secundum ASD - 1/10
TOF - 6%
isolated PDA - 4%
51
Types of linkage analysis
Pediegrees
Sibling pairs
Whole genome scan
52
Types of association analysis
Case control
family based
53
Features of Lesch-Nyhan syndrome
Hyperuricaemia
Hypotonia, delayed motor milestones, spasticity, choreoathetosis, hyper-reflexia, clonus
Severe compulsive self mutilation aged 2-3 yrs
54
ApoE 4 allele vs. AD risk
None - 20% AD
1 copy - 50% AD
2 copies - 90% AD
55
What was the first **antidepressant** introduced in 1952?
iproniazid
## Footnote
HTN reactions preclude wide scale use.
56
Which drug was marketed soon after **iproniazid**?
imipramine
## Footnote
It is a chlorpromazine derivative.
57
In what year did **Sternbach** discover the first **benzodiazepine**?
1954
## Footnote
The drug was chlordiazepoxide, discovered serendipitously.
58
According to **Kuhn** in 1958, which type of depression responded best to **imipramine**?
endogenous depression
## Footnote
This finding highlighted the effectiveness of imipramine for certain types of depression.
59
What significant antipsychotic was synthesized by **Janssen** in 1958?
haloperidol
## Footnote
This marked the start of wide scale use of antipsychotics.
60
What was the **cheese reaction** associated with?
MAOIs
## Footnote
Described by Blackwell in 1963.
61
Which was the first **SSRI** synthesized by **Carlssen**?
zimeldine
## Footnote
It was withdrawn due to HSTVY syndrome and demyelinating disease.
62
When was **fluoxetine** rediscovered as an SSRI?
1987 - initially tested and discarded as NRI in 1970s
## Footnote
It was initially tested as an NRI but discarded due to poor activity.
63
What was the response rate to **clozapine** compared to **chlorpromazine** in Kane's 1988 study?
* 4% response to chlorpromazine
* 30% response to clozapine
## Footnote
This highlighted the effectiveness of clozapine in treatment-resistant schizophrenia.
64
What did **Janssen** synthesize in 1989?
risperidone
## Footnote
This contributed to the development of atypical antipsychotics.
65
What was the significance of **Bowden's** 1994 study?
first RCT for valproate in acute mania
## Footnote
It was administered as divalproex.
66
True or false: There was a **black box warning** for suicide with antidepressants in children in the 1990s.
TRUE
## Footnote
This warning highlighted the risks associated with antidepressant use in pediatric populations.
67
What did the **CATIE** and **CutLASS** studies reveal about SGAs?
no superiority over FGAs
## Footnote
This finding questioned the efficacy of second-generation antipsychotics.
68
What are some **changes in pregnancy** that affect drug metabolism?
* delayed gastric emptying
* decreased GIT motility
* increased volume of distribution
* decreased drug-binding capacity
* decreased albumin
* induced liver metabolism
* increased GFR, renal clearance
## Footnote
These changes can significantly impact drug pharmacokinetics.
69
What is the recommendation for **benzodiazepines** in renal impairment?
use with caution
## Footnote
Diazepam's half-life remains unchanged in ESRF, but metabolites may accumulate.
70
Which **antidepressants** should have their doses reduced in renal impairment?
* citalopram: half normal dose
* paroxetine: reduce dose
* sertraline: do not use
## Footnote
Imipramine and amitriptyline can be given at usual doses.
71
Which **neuroleptics/antimanics** should have their doses reduced in renal impairment?
* Amisulpride - in ESRF use alternate day dosing or dose reduction if no alternatives (exclusive renal excretion)
* Risperidone - prolonged half life
* Lithium - best avoid or give at low doses
## Footnote
Haloperidol can generally be given at normal dose titrated against sedation or hypotension.
72
What factors can **increase oral absorption** of drugs?
* absence of inhibitory factors (e.g., food, gastric acid)
* slow GI motility
* reducing strong hydrophilicity or lipophilicity
* inhibiting p-glycoprotein
## Footnote
Grapefruit juice can selectively downregulate intestinal CYP3A4.
73
p-glycoprotein inhibition enhances absorption most for which drugs
Those undergoing high first pass metabolism:
* CCBs
* Terfenadine
* CBZ
* Triazolam, midazolam, (+/- diazepam)
* Simvastatin
* Methylprednisolone
* Buspirone
* Pimozide
74
What is the most common mechanism for **gut uptake** of drugs?
passive diffusion
## Footnote
This mechanism is crucial for drug absorption in the gastrointestinal tract.
75
What is the effect of **enteric coating** on drug absorption?
slows down rate of disintegration
## Footnote
This can prolong effects and reduce peak plasma concentrations.
76
Renal clearance of ionised form of drugs
Ionised form is water soluble and trapped in glomerular filtrate, hence renal clearance higher for ionised drugs;
Can manipulate urine acidity/alkalinity to facilitate clearance
77
Urine acidification facilitates clearance of
* amphetamines
* phencyclidine
78
Urine alkalinisation facilitates clearance of
* aspirin
* barbiturates
79
Effect of ageing on durg absorption
Slower but nearly equal absorption overall; decreased gastric first pass metabolism; reduction in gastric wall dopa decarboxylase (--> 3x incr in serum levodopa conc in elderly)
80
What is the **volume of distribution** formula?
Quantity / plasma concentration at time zero
## Footnote
A high volume indicates high lipophilicity and therefore affinity for tissues outside body water e.g. brain, fat - case for most psychotropes at physiological pH
A low volume suggests hydrophilicity or high protein binding, with concentration in blood
81
What is the principle binder for **acidic drugs** and for **alkaline drugs**?
acidic - albumin
alkaline (most psychotropes) - alpha-1-acid glycoprotein
## Footnote
It plays a crucial role in drug distribution and pharmacokinetics.
82
Highly protein-bound psychotropes?
95-99% - diazepam, chlorpromazine, amitriptyline, imipramine
90-95% - phenytoin, valproate, clomipramine
83
Effect of ageing on drug distribution
Larger Vd with longer half-life for lipophilic drugs due to increased fat sequestration
Decreased plasma protein binding - nearly 15-25% - due to higher proteinuria and to lesser extent reduced hepatic synthesis --> higher free drug
84
Factors influencing **BBB permeability**
* Head injury
* fever
* hypoxia, hypercapnia
* retroviruses, inflammation, vasculitis
* HTN
* cerebral irradiation
* ageing
## Footnote
General anaesthesia does not affect BBB permeability.
85
Transport across the BBB increased for drugs which are
* unionised
* less protein bound
* higher lipid-water partition coefficient (except if specific carrier mechanism e.g. valproate)
* small molecule which can readily diffuse e.g. Li
86
Sites of circumventricular organs
* Subfornical organ
* Area postrema
* Median eminence
87
What is the **bioavailability fraction** formula?
AUC for oral / AUC for IV
## Footnote
This determines the fraction of the dose absorbed into systemic circulation.
88
**Therapeutic indices**?
* ratio min toxic level to min therapeutic level
* LD-50/ED-50
## Footnote
Narrow index drugs include digoxin, warfarin, and theophylline.
89
CBZ steady-state concentration reached at
2 weeks of dosing, due to CYP autoinduction
90
What is the half-life of **fluoxetine**?
2-3 days; norfluox 2 weeks
## Footnote
Its active metabolite, norfluoxetine, has a half-life of 2 weeks.
91
CYPs for 90% psychotropes
2D6
3A4
92
2D6 Substrates
* All TCAs
* Fluoxetine and paroxetine
* Trazodone and nefazodone
* Valproate
* Many antipsychotics
* Beta-blockers
93
2D6 Inhibitors
* Paroxetine, fluoxetine
* antipsychotics including haloperidol
* amitriptyline, clomipramine
94
3A4 substrates
* CBZ
* Clomipramine
* Fluvoxamine
* Mirtazapine
* Nefazodone
* Most BDZs
* Haloperidol
* Hormonal contraceptives
95
3A4 inhibitors
* Fluoxetine
* CCBs
* nefazodone
* erythromycin
* itraconazole
96
3A4 inducers
* CBZ
* phenobarbital
97
1A2 substrates
* Clozapine, olanzapine
* caffeine, theophylline
98
1A2 inhibitors
* Fluvoxamine
99
1A2 inducers
* Tobacco smoke - polycyclic aromatic hydrocarbons
* Phenobarbital
* Brussels sprouts
100
Warfarin cyps
* 2C9
* 1A2
* 3A4
101
Drugs w/o hepatic metabolism (renal excretion only)
* Sulpiride, amisulpride
* Gabapentin
* Lithium
102
What are the two phases of **metabolism**?
* Phase 1: oxidation, reduction, hydrolysis
* Phase 2: conjugation
## Footnote
Phase 1 is CYP mediated, while Phase 2 forms polar compounds excretable in bile (>300 MW) or urine (< 300 MW).
103
What are the pathways for **alcohol metabolism**?
* Main = cytoplasmic alcohol dehydrogenase (>90%)
* CYP2E1 MEOS
* Peroxisomal catalase
* Non-oxidative pathway (produces fatty acid ethyl esters)
104
BDZ metabolism
* 3A4, 2C19 oxidation --> active metabolites (except oxazepam, lorazepam, temaz)
105
Lithium clearance vs serum sodium
Clearance reduced when hyponatraemic
106
Lithium half-life
10-24 hours
107
What type of compounds are most suited for **renal excretion**?
ionised non-lipid-soluble compounds
## Footnote
Factors reducing renal excretion include increased age and renal impairment.
108
Factors reducing drug renal excretion
* increased age
* reduction in renal blood flow
* renal impairment
* alterations in urine pH
* low serum Na (for Lithium)
109
Clearance =
k (first order elimination constant) * Vd
110
What is the difference between **first order** and **zero order kinetics**?
* First order: constant fraction cleared per unit time
* Zero order: constant amount cleared per unit time
## Footnote
Zero order kinetics occurs when the system facilitating first order clearance becomes saturated.
111
What is the **narrow therapeutic range** for **lithium**?
0.4 to 1.5
## Footnote
Clearance is reduced when sodium is depleted.
112
What is the effect of **ageing** on hepatic metabolism?
no changes until after age 80
## Footnote
The CYP system then declines, but phase 2 metabolism is not affected.
113
How is the cholinergic system affected by ageing?
* decreased number of postsynaptic acetylcholine receptors
* diminished choline acetyltransferase
* decreased brain acetylcholinesterase
## Footnote
This leads to increased anticholinergic side effects and frequency of delirium in polypharmacy.
114
Which **SSRIs** are the most selective SERT inhibitors?
* citalopram
* escitalopram
## Footnote
They have very little norepinephrine or dopamine reuptake inhibition, and very low affinities for H1, GABA, or BDZ-Rs.
115
Name two **least sedative TCAs**.
* Lofepramine - moderate anticholinergic (constipation, sweating can be severe), postural hypotension least likely, relatively safe in overdose, least likely to cause conduction disturbance (--> preferred for elderly)
* Nortriptyline
## Footnote
These TCAs are preferred for patients who may be sensitive to sedation.
116
What is the required **drug-free interval** when cross-tapering from fluoxetine to an MAOI?
5 weeks
## Footnote
This interval is necessary to avoid potential interactions.
117
What SNP is associated with **nicotine replacement** response?
DRD2
## Footnote
Genetic variations can influence treatment outcomes.
118
Which polymorphism is associated with **methylphenidate response**?
DAT1 10-repeat allele homozygosity
## Footnote
This genetic factor can affect the efficacy of the medication.
119
Polymorphisms associated with neuroleptic response?
* 5HT2A, 5HT2C, 5HTTLPR - established
* D2D3, Ser9Gly (controversial)
* NOT DRD2 or DRD4
120
Polymorphisms associated with agranulocytosis in clozapine
HLA loci variants
121
Polymorphisms associated with neuroleptic EPSEs
* Akathisia - DRD2, DRD3
* TD - DAT, 5HTTLPR, tryptophan hydroxylase, CYP1A2
122
Pharmacology of agitation
* alpha 2 blockade
* 5HT2A/C stimulation
* DRI
122
Polymorphisms associated with neuroleptic hyperprolactinaemia and NMS
DRD2
123
What is the **primary excitatory 5HT receptor subtype**?
5HT2A
## Footnote
This receptor is a primary target for psychedelics.
124
What does **5HT1A** modulation lead to in limbic circuitry?
Passive coping
## Footnote
This receptor's activity is influenced by conventional antidepressants.
125
RFs for neuroleptic dystonia
* Young M
* Neuroleptic naive
* high potency FGA used
126
Rx neuroleptic acute dystonia
* anticholinergics eg procyclidine
* switch AP
* botox
* rTMS
127
APs with lowest risk of akathisia
SGAs - olanz, quet, cloz
128
Rx akathisia
reduce drug
change AP
propanolol 30-80 mg/day
low dose clonazepam
low dose 5HT2A antagonists
NOT anticholinergics
129
RFs pseuoparkinsonism
* elderly females
* pre-existing neurological disease
130
RFs tardive dyskinesia
* elderly female
* affective illness
* acute EPSE early in treatment
131
High risk vs low risk PRL elevation neuroleptics
High - amisulpride/sulpiride, ris/paliperidone, haloperidol/clpz/other FGAs
Low - olanz, luras, partial agonists, cloz, quet
132
AP - impaired glucose tolerance risk
highest - cloz, olanz
moderate - quet, risp, phenothiazines
low - high potency FGAs
minimal - partial agonists, amisulpride, luras
133
APs with highest effect on QTc
* pimozide, sertindole
* any IV AP
* HDAT
134
APs with moderate effect on QTc
* amisulpride
* haloperidol, clpz
* quet
* zipras
* pimav
135
APs with low effect on QTc
* aripip, asenapine
* cloz
* flupentixol
* olanz
* risp, pali
* sulp
* fluphen, perphen, prochlorper
136
APs with no effect on QTc
* brexpip
* carip
* luras
* lumat
137
What is the **management** for QTc prolongation if >500 ms?
Repeat ECG, stop suspected causative drugs, switch to drug of lower effect, immediate cardio referral
## Footnote
This protocol is critical for patient safety.
138
Management prolonged QTc neuroleptics < 500 ms
< 440 ms (men), or < 470 ms (women) - nil except if abnormal t waves
> above but < 500 ms - consider reducing dose or switching to another with lower effect; repeat ECG; consider cardio ref
139
Common effects of low-potency antipsychotics
* reduced seizure threshold
* anticholinergic syndrome
* sedation+++
* cardiotoxicity risk increased
* allergic dermatitis, photosensitivity
## Footnote
These side effects can impact patient compliance and treatment outcomes.
140
Which antipsychotic is considered one of the **safest** in overdose situations?
Haloperidol
## Footnote
EEG shows diffuse slowing and low voltage.
141
Least anticholinergic TCAs
* Amoxapine
* Nortriptyline
* Desipramine
* Maprotiline
## Footnote
These are considered the least anticholinergic.
142
Which TCA is known for having the **most antihistaminic** effects?
Doxepin
## Footnote
It is associated with sedation and weight gain.
143
What are the **cardiac risks** associated with TCA use?
* QT prolongation
* Tachycardia
* Flat T waves
* Prolonged QTc
* ST depression
## Footnote
These can be lethal in overdose situations.
144
True or false: **Amoxapine** can cause hyperprolactinemia due to dopamine antagonism.
TRUE
## Footnote
This side effect is important to monitor.
145
What is a common **discontinuation reaction** when stopping TCAs?
Cholinergic rebound
## Footnote
Best to reduce dosage by 25 to 50 mg every 2-3 days, or give propantheline (or reintroduce TCA).
146
List the **common side effects** of SSRIs.
* Weight gain (up to 30%)
* Insomnia, Anorexia in initiation phase
* Sexual dysfunction in 1/3
* Severe sweating esp nocturnal
* thrombasthenia
* SIADH
* nocturnal myoclonus, restless legs
## Footnote
These effects can vary by individual and specific SSRI.
147
What can be used to **reverse sexual dysfunction** caused by SSRIs?
* 5HT2 antagonists (e.g., cyproheptadine, mirtazapine)
* 5HT1a agonists (e.g., buspirone)
* Bupropion
## Footnote
These alternatives may help alleviate symptoms.
148
What are the **side effects** associated with venlafaxine?
* Increased sweating
* Increased diastolic blood pressure
* Mydriasis
* Discontinuation reactions
## Footnote
These effects are important to monitor during treatment.
149
What is a notable side effect of **bupropion**?
* Increased risk of seizures (dose-dependent)
* can exacerbate ADHD, eating disorders, tics, severe anxiety, panic, psychosis, delirium, WFDs
* Common side effects: headache, insomnia, dry mouth, tremor, nausea
* NO anticholinergic, histaminic, orthostatic, cardiac, or sexual side effects
## Footnote
It has a unique profile compared to other antidepressants.
150
Buspirone pharmacokinetic considerations
* can incr haloperidol concs
* needs 2 week washout before MAOIS
* CYP3A4 metabolised
* does not cause weight gain, SD, discont sx, sleep disturbance, sedation
151
Antidepressants prolonging QTc
Citalopram (dose related)
Lofepramine
Trazodone
Tricyclics
In overdose - Sertraline, bupropionate, moclobemide
152
What is the **washout period** required when switching from an SSRI to an MAOI?
1 week (except 5 weeks for fluoxetine)
## Footnote
This is crucial to avoid serotonin syndrome.
153
What are the **EEG characteristics** of NREM sleep stages?
* NREM 1: Low amplitude reduced alpha, low voltage theta
* NREM 2: Few sleep spindles, high voltage K complexes
* NREM 3: Increased delta; large slow waves appear
* NREM 4: Increased delta; large slow waves predominate
* REM: Asymmetrical saw tooth waves, occasional alpha rhythms
## Footnote
These stages reflect different depths of sleep.
154
What is the **MMSE** not designed to test?
Executive functions
155
What genetic condition is associated with **progranulin mutations** on chromosome 17?
Familial frontotemporal dementia (FTD)
## Footnote
This condition has specific clinical implications.
156
What are the **characteristics** of Williams syndrome?
* Hypercalcemia
* Supravalvular aortic stenosis
* Unusual facial features
* Hoarse voice
* Premature wrinkling
* Learning disabilities
## Footnote
These features are important for diagnosis.
157
What is the **lack of sphingomyelinase** associated with?
Niemann-Pick disease
## Footnote
Type A affects infants, while Type B occurs just before teenage years.
158
Genetics of Prader-Willi and Angelman syndromes?
Both are associated with chromosome 15 abnormalities
## Footnote
These syndromes have distinct clinical presentations.
159
What are the **EEG findings** in DT (Delirium Tremens)?
Low voltage fast activity superimposed on slow waves
## Footnote
This pattern is indicative of severe alcohol withdrawal.
160
161
162
MRCPsych A
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