Huntington’s Disease (HD) is a neurodegenerative condition caused by a mutation of the HTT gene and linked with the progressive breakdown of brain cells. It is a progressive condition meaning that several parts of the brain stop working overtime. This condition can affect several aspects of people’s lives, with symptoms varying from cognitive impairments, involuntary (chorea) movements and changes in thinking and behaviour. There is currently no cure and is usually fatal after a period of between 10 to 20 years (Wexler et al, 2016).
Symptoms of HD
The symptoms of HD can develop at any time, but they usually begin between the ages of 30 and 40. They can also appear before the age of 20 which is known as Juvenile Huntington’s; however, this is a rare condition, and symptoms can be slightly different (Mayo Clinic, 2024).
The early signs of HD vary among person to person. Some of these symptoms include difficulties in concentration and memory, mild clumsiness or problems with movement and psychological symptoms such as changes in behaviour and problems with thinking and emotions including depression and irritability (National Institute of Neurological Disorders and Stroke, 2024). Due to the progressive nature of the condition, symptoms can worsen overtime and have a bigger impact on the individual’s life, where more support in day-to-day life is required, and plans will be made for the future. In the later stages, individuals may not be able to work and may struggle to complete basic daily tasks and eventually will require full nursing care for their needs (Verywell Health, 2024).
Physical Symptoms
HD can lead to symptoms affecting a person’s motor skills. One of the primary physical symptoms of HD involves involuntary movements of the body like spasms and jerks, known as chorea which affects all muscles of the body. Further physical symptoms include muscle rigidity, trouble walking or maintaining posture and balance and difficulties with speech and swallowing known as dysphagia (Mayo Clinic, 2024).
Cognitive Symptoms
HD also leads to impairments in various cognitive abilities, and these can become apparent at least 15 years prior to the time at which motor diagnosis is typically given (Paulsen et al, 2008). Some of the symptoms that individuals may experience that indicate impairments include, but are not limited to, the following (Mayo Clinic, 2024):
· Difficulties with focusing on tasks
· Difficulties with organising and prioritising tasks
· Slower processing of thoughts or difficulties with word-finding
· Issues with learning and processing new information
· Lack of flexibility or getting stuck on a thought or action (known as perseveration)
· Lack of impulse control, resulting in acting without thinking and having outbursts of aggressive or sexually inappropriate behaviours.
Mental Health Symptoms and Challenges
It is extremely common for individuals with Huntington’s Disease to have comorbid mental health difficulties. These mental health difficulties are not simply a reaction to receiving the diagnosis and the debilitating symptoms but also occur due to the changes in brain function that can affect thinking, behaviour and personality.
Depression & Suicidal Ideation
Depression is the most common mental health condition associated with the disease, with up to 40% of patients in the early stages of HD suffering from it (Naarding et al, 2009). It is strongly linked to the adjustment to the degenerative and terminal nature of HD and the grief associated with witnessing various family members deteriorate and potentially pass away from the illness. The change in working capacity and loss of ability to engage in usual employment also leads to increased symptoms of depression amongst the HD population (Zadegan et al, 2024)
Individuals with HD experiencing depression tend to experience increased sadness, social withdrawal, changes in sleeping pattern and suicidal ideation and tendencies, with the rate of suicide being 4 to 6 times higher than the rate amongst the general population (Jauhar & Ritchie, 2010). Suicide is also the third most common cause of death in Huntington’s disease after pneumonia and cardiovascular disease accounting for up to 6.6% of deaths in the population (Rodrigues et al, 2017).
Anxiety:
Like depression, anxiety in individuals with HD can occur because of both the physical changes in the brain and the uncertainties of the progressive physical symptoms. Anxiety is particularly common amongst HD gene expansion carriers approximately 15 years before motor signs begin to appear, with a prevalence of up to 71%. This is strongly linked to the difficulties and challenges around growing up in a family with HD, where it is likely the person has witnessed a number of relatives with the condition deteriorate (Dale & van Duijn, 2015).
Anxiety is also related to certain perceptions around the illness. Research has shown that HD patients with greater illness identity and a less strong belief in treatment control of the condition leads to worsened symptoms of anxiety. There also appears to be strong links between symptoms of anxiety and maladaptive coping strategies including self-blame and behavioural disengagement (Arran et al, 2014).
Irritability
Irritability is another common neuropsychiatric feature of HD, with the prevalence varying from 38% to 73% (van Duijn, 2010). Irritability can begin to manifest in the early course of HD up to years before the onset of motor symptoms and is thought to result from both neurological changes in the brain which have led to poor impulse control and inhibition, and the secondary psychological effects of the changes and progressive nature of the condition (Bouwens et al, 2015; Karagas et al, 2020).
Obsessive-Compulsive Behaviours (OCBs)
OCBs are characterised by recurrent intrusive thoughts known as obsessions and repetitive behaviours in response to these thoughts, known as compulsions. Unlike Obsessive-Compulsive Disorder (OCD), OCBs are not classified as a formal psychiatric disorder but can be the result of other medical conditions, as classified in the DSM-5 (Oosterloo et al, 2019). OCBs have been found to be present in the HD population, with prevalence rates ranging from 15% up to 50% (Begingler et al, 2008). These symptoms can become more prevalent in later stages of the disease and can also be influenced by other previous psychiatric disorders such as depression or psychosis.
Psychosis
Although less commonly reported compared to other mental health difficulties, psychotic symptoms including hallucinations and delusions can also have a significant impact on quality of life in those with HD. The prevalence of psychosis in HD patients is variable, ranging from 3 to 11% (van Duijn et al, 2007). Symptoms of psychosis tend to appear in the middle to late stages of the disease and often occur hand-in-hand with cognitive decline (Jauhar et al, 2018). Some individuals with HD may experience low-level psychotic symptoms in earlier stages of the disease and as it progresses, the cognitive and speech impairments can often mask more pronounced delusions and hallucinations, hence why psychosis can be difficult to diagnose in this population (Anderson, 2019).
Treatment & Managements of Mental Health Symptoms
Due to the complex nature of the disease, there is no singular recommended therapy approach to target the mental health difficulties experienced in HD. Although research is still in development, psychological therapies can play an important role in supporting individuals throughout the course of the condition and equips them with valuable skills to manage day-to-day life.
Cognitive Behavioural Therapy (CBT)
CBT is a therapeutic approach that addresses dysfunctional beliefs and thinking patterns and aims to help people learn how to identify and change these patterns which contribute to emotional difficulties and maladaptive behaviours. This approach can be particularly helpful for individuals in the early stages of the disease who have insight into their cognitive and behavioural difficulties and are motivated to engage and make changes. CBT can promote positive coping strategies for individuals with premanifest HD which can help manage negative automatic thoughts around symptom progression as well as depression and anxiety (Novak & Tabrizi, 2011). This intervention can also be valuable in targeting obsessive-compulsive symptoms by restructuring obsessive thoughts, reducing fear associated with these obsessions and reducing the reliance on compulsions to control this fear (Abramowitx & Arch, 2014).
Mindfulness-Based Treatments (MBT)
Mindfulness is a skill that involves paying attention to the present moment in an open, non-judgemental manner. MBTs are a cluster of therapeutic techniques that utilise this skill, including mindfulness-based cognitive therapy (MBCT), mindfulness-based stress reduction and meditation (Ghielen et al, 2019). MBTs can be particularly useful in fostering acceptance of long-term conditions, as well as improving quality of life and reducing symptoms of depression and anxiety (Eccles et al, 2021). As well as this, mindfulness can be helpful in targeting anxiety surrounding symptom progression and promote emotion regulation skills which can be helpful in managing the effects of irritability and anxiety (Velissaris et al, 2023).
Narrative Therapy
Narrative therapy is an approach that views individuals as experts in their own lives and separate from their problems. This type of therapy can help people understand how their problems are impacting them and help them to reframe these experiences and make positive changes in their lives (Psychology Today, 2022). Narrative practise has been effective in addressing psychological symptoms resulting from long-term and progressive health conditions. During therapy, the counsellor aims to support both the patients and their families by acknowledging present and past difficulties and helping them to rediscover their existing identity. The counsellor may also ask questions about various aspects of the individual’s life to broaden their perceptive on how they see themselves. This approach can be effective in promoting feelings of confidence and inspiration in the personal lives of people with HD as it can facilitate discussion of distressing life experiences without focusing heavily on the problem of HD. It can also help to foster connectedness when used in group settings and help individuals with HD feel that they are not alone in their difficulties (Stopford et al, 2020).
Conclusion
Huntington’s Disease is associated with various mental health challenges, which can be both a reaction to receiving the diagnosis and the progressive nature of symptoms as well the changes in brain function associated with the disease.
Intervention during the pre-manifest and early stages of HD is important for managing these mental health challenges whilst the individuals still have insight and awareness into their condition. Addressing these mental health difficulties early on can allow HD individuals to develop adaptive strategies to cope with the progressive nature of the condition as well as improving quality of life.
Future research should expand on the effectiveness of psychological intervention for Huntington’s Disease on a wider scale, as well intervention for targeting under-researched mental health difficulties associated with HD including psychosis and obsessive-compulsive symptoms. By developing understanding of these mental health challenges, more tailored care and support can be delivered to individuals with the condition.
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