Neuropsychiatry Presentation in Huntington’s Disease : Malaysian Journal of Psychiatry

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Case Report

Neuropsychiatry Presentation in Huntington’s Disease

Zaki, Nurzuriana Md.,

Author Information
Malaysian Journal of Psychiatry: Jan–Jun 2022 - Volume 31 - Issue 1 - p 49-51
doi: 10.4103/mjp.mjp_13_22
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Abstract

INTRODUCTION

Huntington’s disease (HD) is a rare autosomal dominant progressive neurodegenerative disease affecting subcortical structures, characterized by progressive movement disorders, cognitive and neuropsychiatric symptoms.[1234] The prevalence of neuropsychiatric symptoms in HD, often the reason for hospitalization, ranges between 33% and 76%. Common symptoms include depression (prevalence of 40%–50%), apathy (52% to 76%), anxiety (17% to 61%), irritability (35% to 73%), psychosis (3%–11%), and suicidality.[1] The diagnosis may change during the illness, with the highest rate in the late stage of disease.[5] Symptoms may result from underlying neurodegenerative changes, side effects of medications, and psychological effects of coping with the illness.[6] To add, depression and irritability may manifest 10–15 years before the emergence of motor symptoms. Furthermore, people living with HD are 4–6 times more likely to die by suicide than the general population due to depressed mood, cognitive inflexibility, impulsivity, and the imminent loss of independence.[27]

The complexity and progressive severity of the disease bring significant ramifications on the lives of patients and their families. Multidisciplinary care is important in providing holistic, optimum treatment and addressing new issues as the disease progresses.

CASE REPORT

We illustrate the case of Mr. H, a gentleman in his 60s, married with children, who has a background of extensive medical illnesses including HD, depression with anxiety, dementia, ischemic heart disease, and benign prostatic hyperplasia. He was admitted to Hospital S for rehabilitation, caregiver respite, and investigation of his urinary retention. On the 3rd week of hospitalization, he became increasingly suspicious. He believed Hospital S planned the admission for 4 months to gain financial profit. He barricaded himself in his room and threatened to harm himself. He was then transferred to Hospital W for specialized care of HD and referred to the consultation-liaison psychiatry (CLP) team for management of irritability and suicidal behavior.

Mr. H suffered from depression and anxiety for more than two decades before he was diagnosed with HD 10 years ago. He had trials of various antidepressants, as well as electro convulsion therapy due to suboptimal treatment response and persistent suicidal ideation. Currently, he reported having long-standing symptoms of low mood and anxiety, hopelessness, irritability, and displayed aggression and recurrent suicidal attempts. He had fixed overvalued ideas about Hospital S and his wife. He portrayed his wife of 37 years as a deranged and difficult person. His wife noted personality changes in Mr. H’s in that he became increasingly irritable, demanding, and verbally abusive as the disease progressed. There were no perceptual disturbances or delusions. Mr. H required some assistance for his self-care. He was otherwise able to take his meals independently. There was no evidence of delirium, concurrent infection and neither did he complain of any urinary retention-related pain.

Mental State Examination revealed the presence of psychomotor retardation, perseveration of speech, which was low in volume and tone, ideas of reference, depressed mood with blunted affect, and partial insight. He scored 15/30 in the Montreal Cognitive Assessment, which reflected moderate neurocognitive impairment affecting the executive function domain. This likely contributed to his disruptive behavior in the ward. He repeatedly asked for diazepam and became easily frustrated when his demands were not met. Apart from minimal choreiform movement, he believed that he was on the milder spectrum of the disease and his life was not affected by the latter. He attributed his lethargy to chronic fatigue syndrome. His poor insight into his neuropsychiatric symptoms reflects the severity of his cognitive impairment and further complicates treatment.[3] Reasoning with him remained a challenge due to his mental inflexibility. All these factors combined, contributed to his affective instability, impulsivity, and aggression which further increases caregiver distress and safety risks. He complained of social isolation as his children withdrew from him due to fear; oblivious of the fact that these are caused by his aggressive outburst. Due to perceived family rejection, he requested to be discharged to a nursing home.

DISCUSSION

Irritability, defined as proneness to anger triggered by minimal aggravation is a serious clinical symptom in HD as this is linked to treatment nonadherence, suicidal attempts, violence and correlates with HD severity and poor quality of life (QoL).[13] The loss of social support structure due to irritability increased the disease burden of HD. The CLP role is not only limited to psychiatric assessment and pharmacological treatment but also in addressing challenging behaviors. The provision of a safe, routine, and structured environment is helpful in managing agitation.[3] With the help of nursing staff and the occupational therapist, behavior modification involving operant conditioning was utilized. He was given a single-bedded room with a TV facility to address his apathy. We prescribed a structured daily schedule which included activities of daily living. Potentially dangerous objects were removed. Boundary settings with consequences for unhelpful behavior were introduced. Triggering factors for Mr. H (i.e. missed diazepam, insomnia, and frustrations) were identified and addressed. The neurology team and his family members were counseled on effective approaches to managing his challenging behavior.

Mr. H’s repeated suicidal behavior is likely precipitated by his increased disability, boredom, unmet wishes, and perceived family rejection. The predisposing and perpetuating factors for his suicidal behavior include his neuropsychiatric symptoms (mood dysregulation, irritability, apathy, a low threshold for frustrations, and impulsivity) as well as the increased social isolation and cognitive impairment. In addition, perseverative thoughts of worthlessness, guilt, suicidal behavior, and a history of depression and anxiety increase the risk of suicidal ideation in HD.[2]

Pharmacological treatment is helpful to mitigate targeted neuropsychiatric symptoms, though psychotropic choice appears to be empirical.[8] At present, there are no head-to-head clinical trials of specific drugs for the latter. He was treated with a combination of daily tablet citalopram 40 mg, a selective serotonin reuptake inhibitor (SSRI) and tablet quetiapine 300 mg, an antipsychotic (AP) to address his depression, anxiety, and irritability. Antidepressants, notably SSRI are recommended for the treatment of depression, anxiety, irritability, and suicidal ideation.[48] Meanwhile, AP doubles as treatment for chorea and agitation/psychosis.[4] However, increasing the quetiapine dose will not be effective in treating his fixed ideas/perseveration and may cause more harm due to its anticholinergic actions that can worsen his cognition, extrapyramidal side-effects, urinary retention, fall, and sedation.[34] Thus, AP dose increments should be done cautiously, if necessary. A mood stabilizer, tablet sodium valproate 500 mg b.i.d. was added to address his impulsivity and agitation.[34]

Mr. H also developed benzodiazepines dependence. He was taking tablet diazepam 30 mg daily as an adjunctive treatment for irritability, comorbid anxiety, and insomnia. As he refused for his diazepam to be reduced, diazepam was prescribed in divided doses, with the aim for gradual dose reduction. This is imperative as diazepam increases the risk of falls, especially in a person with preexisting loss of motor coordination. Benzodiazepine has been identified as an independent risk factor for suicide in HD patients[1] and has negative effects on cognition, judgment, and risk of delirium.[9]

Mr. H. was diagnosed with major neurocognitive disorder due to HD with behavioral disturbance. Unfortunately, there is presently no effective treatment for cognitive impairment in HD.[49] Behavioral modifications such as simplifying complex tasks, providing cues, and adequate time for cognitive tasks are helpful. Conversations with patients on advance care plans pertaining to future medical management are recommended while they can communicate their wishes and retain decision-making capacity.[9]

In summary, recognition and treatment of neuropsychiatric symptoms in HD are important as they posed substantial disease burden; and contribute to functional decline and poorer QoL. Appropriate pharmacological treatment can be used to mitigate targeted symptoms while keeping potential drug interactions in mind. Behavioral therapy must be incorporated in all disease stages. All treatment must be tailored to the patient’s preference, needs, and overall health condition.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

REFERENCES

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9. Jauhar S, Ritchie S Psychiatric and behavioral manifestation of Huntington's disease Adv Psychiatr Treat 2010 16 168 75
Keywords:

Consultation-liaison psychiatry; depression; Huntington’s disease; irritability; neuropsychiatry

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