Euthanasia and physician-assisted suicide in Huntington's disease in The Netherlands

Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disease characterized by chorea, hypokinesia, psychiatric symptoms, and dementia. The age of onset is usually between 30 and 50 years; the duration of illness is from 10–20 years. The rate of suicide in patients is higher than in the general population and is the second most common cause of death in HD after pneumonia (Bindler et al., 2009). Currently, symptomatic treatment is available, but there is no cure. The identification of HD-gene in 1993 made DNA testing possible in individuals at risk.

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“organic Personality Disorder” as Part of Early Neuropsychiatric Manifestations in Huntington’s Disease - a Case Report

European Psychiatry ◽

10.1016/s0924-9338(09)71313-6 ◽

2009 ◽

Vol 24 (S1) ◽

pp. 1-1

Author(s):

J. Maia

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Psychiatric Symptoms ◽

Age Of Onset ◽

Neuropsychiatric Symptoms ◽

Personality Change ◽

Psychotic Symptoms ◽

Autosomal Dominant Disorder ◽

Neuropsychiatric Manifestations ◽

Psychiatric Manifestations

Huntington's Disease (HD) is an inherited autosomal dominant disorder characterized by motor, cognitive and psychiatric symptomatology, being considered a paradigmatic neuropsychiatric disorder that includes all three components of the "Triadic Syndromes": dyskinesia, dementia and depression.Firstly described in 1872 as an "Hereditary Chorea" by George Huntington only in 1993 was its responsible gene identified. A person who inherits the HD gene will sooner or later develop the disease. the age of onset, early signs and rate of disease progression vary greatly from person to person.Neuropsychiatric symptoms are an integral part of HD and have been considered the earliest markers of the disease, presenting sometimes more than 10 years before a formal diagnosis is done. Patients may experience dysphoria, mood swings, agitation, irritability, hostile outbursts, psychotic symptoms and deep bouts of depression with suicidal ideation. Personality change is reported in 48% of the cases, with the paranoid subtype being described as the most prevalent. the clinical case presented illustrates a case of HD which started with insidious psychiatric symptoms and an important personality change.Despite a wide number of medications being prescribed to help control emotional, movement and behaviour problems, there is still no treatment to stop or reverse the course of the disease. Furthermore, psychiatric manifestations are often amenable to treatment, and relief of these symptoms may provide significant improvement in patient's and caregivers quality of life.A greater awarness of psychiatric manifestations of HD is essential to an earlier diagnosis and an optimized therapeutic approach.

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Huntington’s Disease in a Patient Misdiagnosed as Conversion Disorder

Case Reports in Psychiatry ◽

10.1155/2018/3915657 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4

Author(s):

João Machado Nogueira ◽

Ana Margarida Franco ◽

Susana Mendes ◽

Anabela Valadas ◽

Cristina Semedo ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Psychiatric Symptoms ◽

Age Of Onset ◽

Late Onset ◽

Psychiatric Patients ◽

Conversion Disorder ◽

Cag Repeat ◽

Clinical Assessments ◽

Clinical Presentations

Huntington’s disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington’s disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

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Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

10.21203/rs.2.10368/v3 ◽

2020 ◽

Author(s):

Nikhil Ratna ◽

Nitish L Kamble ◽

Sowmya D V ◽

Meera Purushottam ◽

Pramod K Pal ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Neurodegenerative Disorder ◽

Psychiatric Symptoms ◽

Tertiary Care ◽

Psychiatric Morbidity ◽

Cag Repeat ◽

Duration Of Illness ◽

Low Middle Income Countries

Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n=81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p<0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions.

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Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

10.21203/rs.2.10368/v1 ◽

2019 ◽

Author(s):

Nikhil Ratna ◽

Nitish L Kamble ◽

Sowmya D V ◽

Meera Purushottam ◽

Pramod K Pal ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Neurodegenerative Disorder ◽

Psychiatric Symptoms ◽

Tertiary Care ◽

Psychiatric Morbidity ◽

Cag Repeat ◽

Duration Of Illness ◽

Low Middle Income Countries

Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records & UHDRS TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at and duration of illness at the time of death, were 53 years and 7 years respectively, which is much shorter than in Europe and USA. The patients who could be contacted (n=81) were assessed for symptomatic morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p<0.0001). The vast majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and many other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality & other psychiatric symptoms, suboptimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable for interventions.

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Tit for tat: costly punishment in manifest Huntington’s disease

Neurodegenerative Diseases ◽

10.1159/000520303 ◽

2021 ◽

Author(s):

Beatrice Heim ◽

Marina Peball ◽

Carsten Saft ◽

Sarah Maria von Hein ◽

Johanna Maria Piater ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Autosomal Dominant ◽

Psychiatric Symptoms ◽

P Values ◽

Dopaminergic Medication ◽

Neuropsychological Profile ◽

Costly Punishment ◽

Subject Design ◽

Tit For Tat

Objective: We aimed to investigate costly punishment in patients with HD. Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease with motor, cognitive, and psychiatric symptoms. As neuropsychiatric abnormalities often precede motor symptoms, we wanted to assess whether costly punishment is part of the neuropsychological profile of patients with HD. Methods: A total of 40 non demented subjects were prospectively enrolled in this study with a between-subject design comparing manifest HD patients (n=18) to healthy controls (HC; n=22). All participants performed eight rounds of a costly punishment task, in which money was shared unevenly in 5 rounds or in a fair manner in the remaining three rounds. Participants then had to decide whether they wanted to punish the trustee. Furthermore, all participants underwent neuropsychological background tasks. Results: HD patients performed worse in the neuropsychological background tests compared to HC (all p-values<0.05). Moreover, HD patients punished more often in fair (Wald x2=5.03, p=0.025) but not in unfair rounds (Wald x2=1.63, p=0.202). Conclusions: Our results demonstrate increased costly punishment during fair conditions in HD patients. Whether this behaviour is due to a lack of recognition of social norms, an impairment in top-down inhibition, or an effect of anti-dopaminergic medication remains unclear.

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Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

10.21203/rs.2.10368/v2 ◽

2019 ◽

Author(s):

Nikhil Ratna ◽

Nitish L Kamble ◽

Sowmya D V ◽

Meera Purushottam ◽

Pramod K Pal ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Neurodegenerative Disorder ◽

Psychiatric Symptoms ◽

Tertiary Care ◽

Psychiatric Morbidity ◽

Cag Repeat ◽

Duration Of Illness ◽

Low Middle Income Countries

Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records & UHDRS TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early agewhich is much shorter than in Europe and USA. The patients who could be contacted (n=81) were assessed for morbid symptoms and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p<0.0001). The vast majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and many other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality & other psychiatric symptoms, suboptimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable for interventions.

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Management of Traumatic Ulcerations of Lips in a Case of Huntington’s Disease: A Novel Application of Essix Retainer

The Journal of Indian Orthodontic Society ◽

10.1177/03015742211023469 ◽

2021 ◽

pp. 030157422110234

Author(s):

Mohamed Iqbal J

Keyword(s):

Quality Of Life ◽

Characteristic Feature ◽

Neurodegenerative Disease ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Complete Resolution ◽

Psychiatric Symptoms

Huntington’s disease is a progressive neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Dystonia of muscles is a characteristic feature of this condition. A case of Huntington’s disease, with orofacial dystonia, leading to severe uncontrolled biting of the lips, was referred by the Department of Neurology. Deep traumatic ulcerations were found in both upper and lower lips. A simple Essix retainer was fabricated and inserted, which acted as a barrier for the teeth from injuring the lips. The ulcers showed complete resolution in 3 to 4 weeks. The vacuum-formed retainers resulted in a good fit and resisted removal by the uncontrolled contortions of the orofacial muscles. The Essix retainer can be effectively used in improving the quality of life of patients, with Huntington’s disease, having such dystonia-related injuries to lips.

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