What is the pathophysiology of Huntington’s disease?
Progress autosomal dominant neurodegenerative disorder
Expansion of CAG repeats on Chromosome 4 (over 38 repeats)
Atrophy and neuronal loss of striatum and cortex
What is the triad of Huntington’s Disease?
Motor, Cognitive, Psychiatric
(1) Progressive movement disorder (often chorea)
(2) Progressive cognitive disturbance ending in dementia
(3) Various behavioral disturbances that often precede diagnosis
How does HD present?
Prodrome: mild irritability, depression, incoordination
Late stages: chorea, dementia, seizures
Death within 15 years of diagnosis
What investigations are done when HD is suspected?
How is HD managed?
What is the prognosis with HD?
Always decline into chorea and dementia
Main causes of death: Pneumonia from physical decline, suicide
What is a learning disability?
(NB Image)
State of arrested or incomplete development of the mind
Impairment of skills manifested during the developmental period and skills that contribute to the overall level of intelligence
Develops when the brain is still developing
What are some different causes of a Learning Disability?
SPLIT INTO SURGICAL SIEVE
Cerebral palsy and Epilepsy common causes!!
What are the organisms causing TORCH infections?
If somebody of the age of 18 develops intellectual disability, what is this called?
ACQUIRED BRAIN INJURY!!!!
Only learning disability before 18 years of age
What is the most common learning disability?
Downs Syndrome
What is STOMP?
Reducing the amount of psychotropic/inappropriate drugs,to reduce adverse side effects and potential drug interactions
What IQ defines a LD and what are the different severities of LD?
An IQ below 70 defines it
20-34 is severe, <20 is profound
What are 5 common psychiatric comorbidities in learning disabilities?
How may the different categories of LD present e.g self care, reading and writing, social skills, and what support may they need?
Why may it be difficult to diagnose LD patients with mental health disorders?
What happened at Winterbourne View?
Private hospital in Gloucestershire that was abusing adults with learning disabilities, most patients being detained under the Mental Health Act
Are Autism and Dyslexia learning disabilities?
NO!
What are some good ways to manage an appointment with a patient with a LD?
What are the most common physical health comorbidities associated with learning disabilities?
What is borderline intellectual functioning?
What is the common place of residence for the following categories of LD:
What are some physical health problems that a person with Downs Syndrome is more at risk of?
What are some psychiatric associations with Downs Syndrome?