Psychiatry - Level 3 Flashcards
Definition of Huntington’s Disease?
- Autosomal dominant with 100% penetration, combination of progressive dementia and worsening chorea
Epidemiology of Huntington’s Disease?
- Males : Females
- Age of onset 30-40
Pathology of Huntington’s Disease?
o Trinucleotide repeat CAG expansion on c4
o Decreased GABA neurons in basal ganglia
o Increase in stimulation of thalamus and cortex of globus pallidus
Symptoms of Huntington’s Disease?
- Onset of symptoms usually after reproductive age
- Insidious onset
- Involuntary choreiform movements
o Typically start in face, hands, shoulders, gait (ataxia)
o Slurring of speech, extrapyramidal rigidity and epilepsy - Psychiatric symptoms
o Depression, risk of suicide, delusional, schizophrenia
o Subcortical dementia – slowing, apathy, amnesia
Investigations of Huntington’s Disease?
- Pre-symptomatic diagnostic test o CAG repeats – Over 40 abnormal - EEG slowing - CT/MRI o Atrophy of basal ganglia o Boxing of caudate - PET scan – decreased metabolism
Management of Huntington’s Disease?
- No curative treatment
o Haloperidol (or other antipsychotics) may reduce abnormal movements
o Depression treated with SSRIs - Emotional and physical support
Definition of Creutzfeldt-Jakob Disease?
- Progressive dementia transmitted by infection with prion – a glycoprotein viral sub-particle lacking RNA
- New variant CJD
o Transmitted via food chain – neuropathologically related bovine disease (bovine spongiform encephalopathy)
o Disease affects younger people (20 year)
o Anxiety and depression followed by personality changes and then dementia
Epidemiology of Creutzfeldt-Jakob Disease?
- Rare
- 50-70 years old
- Male : Female
Transmission of Creutzfeldt-Jakob Disease?
o 85% spontaneous , 10% genetic mutation, 5% iatrogenic
o Infected humans through corneal transplantation, depth EEG with contaminated electrodes, neurosurgery with contaminated needles
Histology of Creutzfeldt-Jakob Disease?
o Neuronal degeneration without inflammation
o Astrocytic proliferation
o Vacuoles in grey matter – status spongiosus
Symptoms and signs of Creutzfeldt-Jakob Disease?
- Rapidly deteriorating dementia, cerebellar and extrapyramidal signs o Memory impairment o Personality change o Fatigue o Depression o Progressive spastic paralysis of limbs o Tremor, rigidity, choreoathetoid movements - Myoclonus and death within a year
Investigations of Creutzfeldt-Jakob Disease?
- EEG shows triphasic, periodic complexes
- CT atrophy of cortex and cerebellum, ventricular dilatation
Management of Creutzfeldt-Jakob Disease?
- No cure
- Supportive treatment
Prognosis of Creutzfeldt-Jakob Disease?
- Death usually within 1-2 years
Defintion of AIDS related dementia?
- Histological evidence of brain damage
- Picomolar concentrations on HIV surface is neurotoxic
Symptoms of AIDS related dementia?
- Insidious concentration and memory affected
- Apathy, social withdrawal
- Increasing motor problems and affecting ADLs
o Psychomotor retardation – progressive and severe
Management of AIDS related dementia?
- No treatment
- ART used to prevent progression of HIV/AIDs
Definition of learning disability?
o IQ < 70, significant impairment of social or adaptive functioning and onset in childhood
Classification of learning disability?
o Mild – 50-69
o Moderate – 35-49
o Severe – 20-34
o Profound - <20
Risk factors of learning disability?
o Chromosomal anomalies – Down’s, William’s, Rhett, Fragile X
o Congenital malformations – spina bifida, hydrocephalus, microcephaly
o Prenatal exposure – alcohol, sodium valproate, congenital rubella infection, zika virus
o Birth – Hypoxic brain injury, cerebral palsy
o Prematurity (<33 weeks)
o Meningitis, encephalitis, measles
o Childhood neglect
Associations with learning disability?
o ASD
o ADHD
Symptoms of learning disability?
o Mild - some learning difficulties in school, many will be able to work and maintain good social relationships
o Moderate – marked developmental delays, most can learn some independence in self-care and adequate communication and academic skills, may need support to live and work
o Severe – continuous support
o Profound – severe limitation in self-care, continence, communication and mobility
How to interact with people of learning disability?
o Use straight-forward language
o Accommodate sensory impairments
o Different communication methods
Management of suspected learning disability?
o Referral to local community learning disability service/team
o Other referrals: clinical psychologist, mental health service, clinical genetics, safeguarding