Psychiatry Flashcards
What is the most common inherited cause of learning disability?
Fragile X syndrome
What is the most common avoidable cause of learning disability?
Foetal alcohol syndrome
What are 4 known, predisposing medical conditions for ASD?
1) Fragile X syndrome
2) Infantile spasms
3) Congenital rubella
4) Tuberous sclerosis
What genetic mutation is seen in Fragile X syndrome?
An expansion of the CGG trinucleotide repeat in the FMR1 gene on the X chromosome.
What gene is implicated in Fragile X syndrome?
FMR1 gene on X chromosome
What trinucleotide is implicated in Fragile X?
CGG
Classic features in Fragile X syndrome?
1) Learning disabily
2) Delayed speech & motor development
3) Large testes
4) Long, narrow face
5) Prominent jaw & forehead
6) Large, protruding ears
What 3 conditions may be associated with Fragile X?
1) Autism
2) ADHD
3) Epilepsy
How is Fragile X diagnosed?
DNA test that counts number of CGG repeats (FMR1 testing)
What condition is ASD most commonly associated with?
ADHD (50%)
What is trisomy 18?
Edward’s syndrome
What is trisomy 13?
Patau syndrome
People with learning disabilities may present differently with depression.
What type of symptoms are often more prominent?
Biological e.g. agitation, appetite, sleep
What valve defect can be seen in Fragile X?
Mitral valve prolapse
What CNS abnormalities can be seen in foetal alcohol syndrome?
1) Decreased cranial size
2) Structural brain abnormalities
3) Problems with attention
4) Cognitive difficulties
Prevalence of ASD in UK?
1 in 100
What may depressive features in people with learning disability also indicate the onset of?
Dementia
What IQ score defines a learning disability?
<70
Stepwise management of PTSD?
1st –> trauma-focused CBT or eye movement desensitisation and reprocessing (EMDR) therapy
2nd –> venlafaxine or SSRI
3rd –> risperidone (severe cases)
What SNRI is indicated in PTSD?
Venlafaxine
What antipsychotic is indicated in severe cases of PTSD?
Risperidone
What is de Fregoli syndrome?
The delusion of identifying a familiar person in various people they encounter.
What is Capgras syndrome?
The delusion that a person closely related to the patient has been replaced by an impostor.
When lithium levels are stable, how often are levels checked?
Every 6 months, 12 hours after last dose