CHAPTER 22 - HUNTINGTON'S DISEASE

Huntington’s disease

hereditary, autosomal dominant brain disease characteriszed by motor, cognitive and neuropsychiatric impairments

what are symptoms of Huntington’s disease

involuntary movements, cognitive decline, changes in behaviour, mood and personality, and problems with speech and swallowing, sleep andbody temperature disturbances and weight loss

facts about Huntington’s

• onset

• how many years alive still

• How many people in the Netherlands

• middle age, between 30 and 50

• most die after 15-20 years

• 1200-1500 people

Onset of involuntary movement (….) that get worse, and the decline of control over voluntary movements. it can leid to reduced mobility (…) or a combination of both

chorea, hypokinesia

what can show if a person carries the gene responsible for Huntington’s disease

genetic diagnostics

what is used to diagnose a patient

disease’s charactersitic motor disorder, family history, and/or the presence of a positive DNA test results

Give the classification criteria

→ criteria are met for major or mild neurocognitive disorder

→ there is an insidious onset and a gradual progression

→ there is clinically established Huntington’s, or a risk based on family history or genetic testing

→ not attributable to another medical condition

Huntingtin

large, multifunctional protein that normally mediates transport and communication between nerve cellss and is therefore essential for brain development

what does the gene mutation do to huntingtin

give the protein a toxic effect, causing cells in certain regions of the brain to die causing atrophy

where do the changes in the brain occur for Huntington’s

first in the basal ganglia (in the striatum), which influences the somatomotor cortex, the frontal cortex, the somatosensory cortex and the occipital lobe

What treatment can be used to optimize dialy function and the quality of life for Huntington’s

occupational therapy, speech therapy, psycho-education, medication

occupational therapy

to increase independence in daily tasks

speech therapy

can help with swallowing and speech porblems

psycho-education

to help deal with teh cosnequences of the disease

medication

antidepressants or neuroleptic drugs to treat the beahvioural and neuropsychiatric symptoms

what are the most cognitive impairments (there are 7)

intelligence, memory , information processing speed, attention and executive function, social cognition, language and speech, perception and spatial cognition

intelligence

in later stages of the disease

memory

learning and recalling new information, and alter information storage, recognition, general factual knowledge

information processing speed

in early stages

attention and executive funciton

patients underestimate the problems and consequential risk. they also have difficulty assessing and regulating their own behaviour, which can leid to impulsvieness.

They are often egosyntonic (think motor disorders are a natural part of them) and have problems with task planning, and detaching from certain thoughts

social cognition

may appear before the motor impairments

→ difficulties with ToM, which could make a patient seem elss empathetic and more egocentric

language and speech

communication, finding words, speak slower, and spontaneous language decreases, articulation disorders, impaired speech (dysarthria) in early stages and mutism in final stages.

what neuropsychiatric symptoms can occur at the early stage

depression, anxiety, psychotic sympotms, impulsiveness and behavioural inhibition

what % has suicidal thoguths and what % attempts

20% has thoughts, and 10% attempts

what % has anxiety

13-71%

dysphagia

progressive difficulty with chewing and swallowing, which increases the risk of choking