Diagnoses - Part 3 of 4 Flashcards
What is part of routine workup of child with mental retardation but without dysmorphic features or neurological findings?
CHROMOSOMAL ANALYSIS
Pattern of inheritance in Wilson’s disease
AUTOSOMAL RECESSIVE
Pattern of inheritance in Huntington’s disease
AUTOSOMAL DOMINANT
Polymerase chain reaction (PCR) used in genetic linkage studies involves:
AMPLIFICATION OF MICROSATELLITE MARKERS
What conditions associated w MR have an autosomal recessive inheritance pattern?
ADRENOGENITAL SYNDROME, HURLER’S, TAY- SACHS, PHENYLKETONURIA
4 y/o does not run/climb, falls, has iliopsoas/quadriceps/gluteal weakness, enlargement of calves with firm, “rubbery” consistency, decreased DTRs and normal sensation. Wide based stance and walks waddling. When rising from the ground, uses a four-point position through full extension of all four extremities. Has family h/o similar sx in males. 1) EMG reveals? 2) Genetic mutation in what protein?
1) SMALL, SHORT-LASTING MOTOR UNIT POTENTIALS WITH INCREASED RECRUITMENT 2) DYSTROPHIN
14 y/o girl presents with delayed onset of puberty, short status, and a history of cardiac abnormalities and hypertension. She has poor social skills. Psychological assessment reveals a normal verbal IQ and a below-normal performance IQ. Which of the following is the most likely dx?
TURNER SYNDROME
The Sural nerve biopsy of a pt w charcot-marie-tooth type 1 is shown (image), exam shows diminished LE DTRs and deformities of feet BL. These deformities are typical of which molecular abnormality?
DUPLICATION OF THE PERIPHERAL MYELIN PROTEIN GENE
Increase risk for psychopathology in offspring?
HAVING BIO-RELATIVES WITH PSYCHIATRIC ILLNESS
15 y/o pt w/ hx of atypical seizures that include psychomotor attacks and generalized motor episodes. Pt does poorly in school. Exam reveals skin lesion, no other abnormalities. A mutation of which gene?
TSC-1 (TUBEROUS SCLEROSIS GENE 1)
Epigenetic change with fragile X mental retardation 1 gene in fragile x syndrome?
METHYLATION OF THE CPG SITES OF THE PROMOTER REGION
What are splice variants?
DIFFERENT PROTEINS ENCODED BY THE SAME GENE
Which of the following occurs in epigenetic histone protein amino acid residue modification: There is little or no effect on chromatin remodeling, Acetylation is generally rapid and reversible, there is an increase in the positive charge on histones, there is an increase in the interaction with phosphates of the DNA, DNA methylation predominantly activated gene transcription
Acetylation is generally rapid and reversible
Genetic method for analysis of rare variations?
NEXT GENERATION SEQUENCING
Where are DNA methylation regulatory enzymes and proteins found?
MITOCHONDRIA
Small insertions and deletions in DNA sequence referred to as
INDELS
The most serious limitation of the candidate gene approach in identifying genetic disorder
HIGH PROBABILITY OF FALSE POSITIVE FINDINGS
Genetic mechanism in velocardiofacial syndrome
GENETIC DELETION
A young girl has developmental regression, loss of motor and language, stereotyped hand movements, muscle hypotonia, autonomic dysfunctions, and severe cognitive impairment. What genes are involved?
MECP2 CODING FOR METHYL CPG-BINDING PROTEIN 2
what genetic mechanism accounts for schizophrenia, autism, intellectual disability despite association with decreased facility?
DE NOVO MUTATIONS
This involves genetic control by factors other than DNA sequence
EPIGENETICS
Proportion of the genome composed of the “exome”
2%
What CYP450 polymorphism can lead to lower than expected lower than normal risperidone blood levels?
MULTIPLE COPIES OF WILD-TYPE ALLELES
Genetic copy number variations in individuals with severe neurodevelopmental disorders display what difference when compared to controls?
INCREASE IN BURDEN OF CNVS
Disorder caused by autosomal microdeletion
WILLIAM’S SYNDROME
Detection of single nucleotide variants in rare genetic diseases is most likely to occur with which genetic study
EXOME SEQUENCING
You suspect that a pt is a poor metabolizer due to excess side effects on low doses antidepressants, which method identifies CYP enzyme DNA sequence variants to explain intolerance
MICRO ARRAY ASSAYS
End stage AIDS with worsening fine motor movement, fluency, and visual spatial coordination, Dx? (2x)
AIDS DEMENTIA COMPLEX
HIV seropositive pt w/ psychotic symptoms has an absolute neutrophil count of 950 cells/mm3. Pt is on zidovudine, lamivudine, and ritonavir. What antipsychotic would be contraindicated? (2x)
CLOZAPINE
A 43 y/o patient with newly diagnosed AIDS has increased irritability, can’t remember phone numbers. Mild right hemiparesis, left ataxia and visual field defects apparent. LP is normal. MRI above. What is diagnosis?
PROGRESSIVE MULTIFOCAL LEUKOENCEPHALITIS
70 y/o +HIV heroin abuser is treated with Lopinavir and Ritonavir and fluoxetine for MDD. Hep C was dx and treated 2 months ago. Since then pt is more irritable, insomnia, and diarrhea. Why?
DRUG-DRUG INTERACTION
When is a psychiatrist permitted to notify a 3rd party identified to be at risk for contracting HIV from a patient
WHEN PATIENT W AIDS UNWILLING/UNABLE TO TAKE AUTONOMY-PRESERVING PRECAUTIONS LIKE ABSTINENCE
AIDS patient with memory problems, R hemiparesis, L limb ataxia, BL visual field deficits, and normal CSF. MRI T2 scan showed.
PROGRESSIVE MULTIFOCAL LEUKOENCEPHALITIS
AIDS and progressive hemiparesis and R homonymous visual field deficit assoc w patchy white matter lesions on MRI with normal routine CSF.
PROGRESSIVE MULTIFOCAL LEUCOENCEPHALOPATHY
Gay couple seeks therapy. One has HIV, one is negative. HIV negative feels betrayed and believes HIV positive partner was unfaithful. What should therapist say?
MEDIAN DURATION OF ASYMPTOMATIC STAGES OF HIV INFECTION IN THE US IS 10 YEARS
Most frequent route for HIV transmission in teenage girls
HETEROSEXUAL CONTACT
What is a poor prognostic sign for HIV?
DEMENTIA
AIDS pt, progressive weakness of extremities over weeks. Distal sensory deficit for pinprick and vibration. Slow nerve conduction, but EMG shows no denervation
CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY
In considering safe sex practices for avoiding HIV infection, oral sex is best characterized by:
CAN RARELY TRANSMIT VIRUS
Prevalence of AIDS increased after discovery of AZT, best explanation?
MORE PATIENTS WERE LIVING LONGER
What has demonstrated efficacy for Irritable bowel syndrome? (4x)
HYPNOSIS
Mild confusion, lethargy, thirst, polydipsia: (3x)
HYPONATREMIA
70 y/o with mild Alzheimer’s lives with family and prescribed SSRI for depression. Also has HTN, adult onset DM, and RA, which are stable. The pt develops acute confusion but no other med or psych symptoms which test should be ordered first? (2x)
ELECTROLYTES
In ER, which symptoms most strongly suggest a general medical condition? (2x)
CLOUDED SENSORIUM
Which of the following is the most accurate information on the use of biofeedback for hypertension?
IT IS EFFECTIVE FOR HYPERTENSION, HOWEVER, IT IS LESS EFFECTIVE THAN MEDICATION
75 YOM getting into several car accidents. Good physical health, no disease, no meds, most likely cause of accidents?
SLOWER VISUAL PROCESSING
Which metabolic changes is characteristic of normal aging?
CREATININE CLEARANCE DECLINES
Pt who was admitted to the ER after a MVA receives IV dextrose 5% to provide access for administration of parenteral meds. Later, pt experiences confusion, oculomotor paralysis, and dysarthria. Symptoms were likely caused by:
WERNICKE’S ENCEPHALOPATHY
A 34 yo patient is being treated for malaria after returning from a trip to Kenya. The patient has a history of schizoaffective disorder which has been well controlled for more than a decade with a combo of Risperdal and Lithium. The pt is given a single dose of mefloquine, however after 1 week the patient reports feeling anxious. This escalates over the next week to PMA and persecutory delusions. The most likely cause of the pt’s psychotic symptoms is:
UNCOMMON SE OF THE ANTIMALARIAL TREATMENT
A consult is requested for a patient on a medical ward who is agitated and hallucinating. Pt appears to be flushed and hot with dry skin, mydriasis, a rapid pulse and diminished bowel sounds. What is your first recommendation?
D/C ANTICHOLINERGIC DRUGS
Free RBCs protoporphyrin test in the screening for intoxication with:
LEAD
What is the most common biological cause of prenatal neurotoxicity linked to the development of intellectual disability (mental retardation)?
ALCOHOL EXPOSURE
What causes of decreased vision in older adults is characterized by an inability to focus on an object as a result of retinal damage
MACULAR DEGENERATION
Which of the following is the most powerful predictor of falling in older adults?
USE OF SEDATIVE MEDICATIONS
Pt has partial resection of bowel. Has not resumed ambulation despite encouragement. Pt has low mood, poor sleep, and anhedonia. Dx?
PSYCHOLOGICAL FACTORS AFFECTING GENERAL MEDICAL CONDITION
42 y/o pt has had chronic abdominal pain, constipation and nausea for the past 14 months. Extensive medical work-up has revealed no organic cause, but the pt insists that these are symptoms of a serious disease. Most likely diagnosis:
HYPOCHONDRIASIS WITH POOR INSIGHT
Terminally ill cancer patients who experience concerns about bad death are most typically worried about dying with what?
PAIN
A genetic susceptibility for OCD is suggested by evidence that there is a familial link with (4x)
TIC DISORDERS
Principal behavioral technique for OCD (4x)
EXPOSURE & RESPONSE PREVENTION
What is the most common pattern of obsessions in pts with OCD? (x2)
CONTAMINATION
25 y/o with OCD diagnosed 2 years ago is likely to benefit from what medicine (in addition to psychotherapy)? (2x)
CLOMIPRAMINE
A 20 year old male pt presents to his physician for a physical examination because he is worried that he may have contracted an infectious disease. He states that his worry is interfering with his ability to complete work assignments. He states that he counts to 100 repetitively in order to distract himself from this worry. He has no prior medical or psychiatric history. He does not abuse substances and is not involved in any relationships. Which of the following regions of the pt’s brain is most likely to show increased activity on PET scan? (2x)
CAUDATE
Name for tics comprised of obscene gestures (2x)
COPROPRAXIA
Neurosurgical approach that treats refractor OCD targets what structure?
CORTICO-STRIATAL-THALAMO-CORTICO- CIRCUITRY
Difference between childhood onset OCD differs and adult onset
PSYCHIATRIC COMORBIDITY BURDEN IS GREATER
Pt with OCD resistant to entering treatment is a candidate for:
MOTIVATIONAL INTERVIEWING
According to DSM-IV-TR, compulsive skin picking would be:
IMPULSE CONTROL D/O NOS
Episodic OCD with variable severity of Sxs, independent of Tx, is more common in:
BIPOLAR MOOD DISORDER
Which TCA has consistently been found to be useful in long term treatment and relapse prevention of OCD?
CLOMIPRAMINE
Repetitive behaviors that the pt feels compelled to perform ritualistically, while recognizing the irrationality and absurdity of the behaviors, describes:
COMPULSIONS
Persistently intrusive inappropriate idea, thought, impulse, or image that causes marked distress is
OBSESSION
Pt w OCD started on 100mg sertraline, at 4 week f/u increased to 150mg b/o no response. Week 10, pt reported no improvement. Next step?
INCREASE SERTRALINE TO 200MG
Hx of OCD, Zoloft only partially effective. Next:
TRY ANOTHER SSRI
What is an effective treatment for obsessive compulsive disorder?
ESCITALOPRAM
Anterior capsulotomy and/or cingulotomy are indicated and demonstrated effective for pts with what severe incapacitating disorder?
OCD
Pt is hoarding, home filled with filth, acknowledges is she is keep a lot of things (hoarding)
HOARDING DISORDER
Which condition is least likely to respond to hypnosis?
OCD
40 y/o pt complains of repetitive, continuous hand-washing throughout day to the point of chafing skin. Pt denies fear of germs or any obsessive thoughts, cannot explain continuous washing. Dx?
OCD
Psych MD asks a patient, “are there things you must do in a particular way or order?”which this question, psych MD is trying to elicit?
COMPULSIONS
Man obsesses about killing his g/f. Instead of killing, picks his face w/ a pin. Medication:
FLUVOXAMINE
Pt with contamination fears and hand washing rituals is treated with response prevention combined with:
EXPOSURE THERAPY
35 M w/ severe OCD, failed multiple meds, CBT and ECT, what next?
CINGULOTOMY
What condition is frequently associated with OCD?
TOURETTE SYNDROME
What statement reflects current thinking about neurological procedures for intractable OCD?
AT PRESENT, THERE IS LITTLE EVIDENCE TO SUGGEST THAT ANY ONE PROCEDURE IS SUPERIOR TO ANOTHER.
Group of disorders associated with disruption in cortico-striato-thalamo-cortical circuit function
OBSESSIVE-COMPULSIVE
OCD is commonly comorbid with
ANXIETY DISORDERS
Personality d/o w chronic feelings of emptiness, transient psychotic sx, mood swings, tumultuous relationships, self-mutilation, poor self-image, impulsivity? (7x)
BORDERLINE
Which disorder has greatest co-incidence of alcohol abuse and dependence? (3x)
ANTISOCIAL PERSONALITY DISORDER
What personality disorder results in displays of rapidly shifting and shallow expression of emotions in patients? (3x)
HISTRIONIC
What personality d/o is associated with transient psychotic symptoms (2x)
BORDERLINE
Personality d/o should be considered in ddx of cyclothymic d/o? (2x)
HISTRIONIC
Pts with which personality d/o sees themselves socially inept, personally unappealing, or inferior to others? (2x)
AVOIDANT
Pts with which personality d/o sees themselves socially inept, personally unappealing, or inferior to others? (2x)
OBSESSIVE-COMPULSIVE
Another psychiatrist refers to a pt by saying this pt is “special” and need really good treatment. You need to be careful with the pt to: (2x)
ANTICIPATE THE POTENTIAL FOR SPLITTING BETWEEN THE REFERRING MD AND YOURSELF.
Avoidant PD differs from Schizoid PD by: (2x)
DESIRE FOR SOCIAL RELATIONS
Interpersonal exploitativeness is a diagnostic feature of (2x):
NARCISSISTIC PERSONALITY DISORDER
40 y/o hand surgeon has come into conflict with the hospital admin. Though the hospital went out of its way to recruit this surgeon, he has felt consistently betrayed and has accused the administration of trying to exploit him by expecting that he should take more calls, though this has never been stated. The doctor-hospital relationship deteriorated further when peer review raised a question about one of the surgeon’s cases. The surgeon believes that none of his complaints have been satisfactorily resolved. He has become more unforgiving and isolated: (2x)
PARANOID PERSONALITY DISORDER
Borderline patient pulling away from a relationship due to growing up in abusive household is stuck in which stage
RAPPROCHEMENT
30 yo is pushed by family to get help for isolation she is uncomfortable around others and have problems making friends unless convinced they will accept her. She thinks others are highly critical of her and only has 2 close friends from childhood and has never dated. Fears of embarrassment interfere with job seeking as well. What is this dx?
AVOIDANT PERSONALITY DISORDER
29 y/o F w/ mood swings- mood changes very rapidly, sometimes without prompting, from elation to depression or intense anger. These moods last minutes to hours. Her history is significant for promiscuity, spending sprees, tumultuous relationships, unstable self-image, and occasional use of cocaine. Hx of a brief period of paranoia and AH? During and emotional break-up with her last boyfriend, which remitted after a 2-day admission to the psych unit. When asked about SI, she reports that it is always in her mind and that, whenever she is under stress, she cuts her arms with a sharp blade to relieve a strong feeling of emptiness. Most likely Dx?
BORDERLINE PERSONALITY D/O
Which personality d/o is most commonly found in pts w/ severe factitious d/o?
BORDERLINE PERSONALITY
Person with covert obstructionism, procrastination, stubbornness, and inefficiency may be classified as suffering from which personality d/o outside of current DSM classification?
PASSIVE-AGGRESSIVE
40 y/o M emotional detachment, little interest in sex, no close friends. Axis II Dx?
SCHIZOID PD
Common symptoms of paranoid personality disorder
PREOCCUPATION W/ UNJUSTIFIED DOUBTS OF LOYALTY/TRUSTWORTHINESS OF FRIENDS/ASSOCIATES
Underlying dynamic of much of the behavior of pts with paranoid personality d/o:
A DEVELOPMENTAL FAILURE TO ACHIEVE OBJECT CONSTANCY
20 y/o M with poor performance in college, before was very good student except for not being able to finish assigned projects at college. Classmates have described bizarre behavior, such as counting loudly or repeating words silently. He does not want to follow others rules but his owns, he believes nobody understands him and are against him.
OBSESSIVE COMPULSIVE PERSONALITY DISORDER
Pt with body dysmorphic d/o may have what personality d/o?
NARCISSISTIC
Which personality disorder is characterized by a style of speech that is excessively impressionistic and lacking in detail?
HISTRIONIC
Pt becomes panicky and distressed every time psychiatrist goes on vacation, this pattern is most likely a characteristic of:
DEPENDENT PERSONALITY
Pt with histrionic personality d/o storms in his psychodynamic session and a few minutes late, clearly in rage. He expresses hopelessness and declares vehemently that he must divorce his wife. Next best intervention:
ENCOURAGE THE PT TO REFLECT MORE ON WHAT HAS HAPPENED TO TRIGGER SUCH PAINFUL FEELINGS.
22 y/o borderline splitting inpatient staff. You should:
EDUCATE STAFF ABOUT SPLITTING
DDx of histrionic personality disorder includes what other personality d/o?
DEPENDENT PERSONALITY DISORDER
Which personality d/o should be in the dif dx of agoraphobia:
DEPENDENT PERSONALITY DISORDER
23 y/o M w/ Borderline. Had fight w/ g/f now psychotic, cutting, AH w/ command to harm self. What level of care:
BRIEF INPATIENT HOSPITALIZATION
Pts w/ this personality d/o most likely to have 1st degree relatives with depression
BORDERLINE
According to DSM-IV-TR, what personality disorder in adults requires evidence of another specific psychiatric diagnosis prior to age 15?
ANTISOCIAL
Pt repeatedly becomes distressed after what seems, even to the pt, to be minor disappointments. Pt also seems to suffer from extreme narcissistic vulnerability. A therapist utilizing self-psychology would be most likely to interpret this as due to?
A LACK OF DEVELOPMENTALLY APPROPRIATE EMPATHIC CAREGIVERS.
DBT has been shown to be effective in the treatment of what personality disorder?
BORDERLINE
What personality disorders should be the main consideration in differential dx of schizotypal personality disorder?
AVOIDANT
16-year-old adolescent is being evaluated for possible schizophrenia. A family history of which of the following personality d/o is most strongly associated with this dx?
SCHIZOTYPAL
