Huntington’s disease has been diagnosed for more than half a century in India [12]. In this study, we outline the characteristics of HD patients diagnosed at our center, and describe the co-morbidity, mortality and access to care. The mean age at symptom onset (40.3 ± 10.4 years) and the mean CAG repeat length (44.2 ± 4.5 repeats) of our sample are comparable to the studies in Western populations [6, 17]. As expected, the age at symptom onset had significant inverse correlation with CAG repeat length.
Seventeen HD patients had died within 3 years of diagnosis (mean age at death of 53 years), none of them being institutional deaths. Though the mean duration of illness at death (7 years) is skewed by deaths due to trauma and cancer, it is considerably lower when compared to the mean survival of 24 years from diagnosis in a large European cohort (institutional deaths in 54% cases) [18]. Multiple factors could have contributed to this including delayed diagnoses, disease severity and inadequate care. Though the cause of death was unclear in many, most of the known causes (suicide, intracranial bleeds due to falls, aspiration pneumonia) are preventable. Quite often, families had been informed that this was an incurable condition. This pessimism, the lack of services, and the socio-economic factors (expenses involved in treatment of a person who was anyway ‘destined’ to die) perhaps contributed in no small part to the stark difference.
The estimated suicide rate in HD patients is 4–6 times higher than in the general population [19]. We too observed a high prevalence of suicidal tendencies (22%) in our sample, which is more than that reported in other studies in HD patients [20, 21] and that in the general Indian population (0.01%)[22]. Suicide resulted in 3 of the 17 deaths. Even greater concern is warranted as nine additional subjects also reported a family history of suicide in one or more members, involving both manifest HD and at-risk individuals. A disproportionately large number of patients with confirmed or suspected HD are thus ending their lives. The cause for suicidality in HD appears to be multifactorial [21, 23]. It may be part of the disease itself (depression or impulsivity), or may be secondary to disease-related disability, often influenced by socioeconomic and cultural factors [20]. This high rate of suicidal attempts and death may also reflect the degree of despondency and hopelessness that HD patients and their families experience.
The lifetime prevalence of psychiatric morbidity among HD patients varies between 33-76% as per various reports, with depression, apathy, irritability, aggressiveness, impulsiveness, obsessions, and compulsions being commonly reported [19, 24]. Nearly one-third patients in our sample reported non-motor symptoms at onset, and majority (91.4%) had psychiatric and behavioral problems, of varying severity, during the course of the disease. The most common problems were anger outbursts (65%), higher than previously reported (24), followed by low mood or depression (53%) and generalized anxiety (48%). A significant proportion (40%) also reported delusions, which is relatively high compared to previous studies in HD [24, 25]. These included delusions of infidelity, persecutory and somatic delusions. Apathy, not related to depression, was present in one-third patients, which is consistent with other studies [26]. Hallucinatory behavior (mostly visual) was noted in one-fifth of patients (relatively high) [25], while a similar proportion reported repetitive behavior like washing hands and ritualistic cleaning, suggestive of obsessive-compulsive disorder. The prevalence of addictive behavior (alcohol, tobacco and betel nut) in our sample (22%) is higher than that of general population [27]. Timely recognition of these problems facilitates appropriate treatment, with potential positive consequences on emotional, cognitive, and physical well-being.
Nearly half the patients also had cognitive dysfunction. It has been suggested that cognitive dysfunctions could account for as much as 70% of the variance in functional status [28]. Almost all subjects had chorea but majority of them were ambulant (91.4%), with no history of falls in more than half (56.8%) of them. There was high incidence of dysarthria (69%), and dysphagia (34.6%), which are important risk factors for death [29]. The overall morbidity assessment of the patients was often confounded by poor cooperation, bradykinesia, co-existing psychiatric conditions and cognitive dysfunction.
The low mean TFC score (7.5 ± 3.8) of the sample suggests significant functional disability. About two-third patients were classified as TFC stages I and II, a group potentially amenable to pharmacological therapies and multidisciplinary care. The other one-third patients had a TFC score below 7, indicating the need for palliative care. The TFC score had a significant inverse correlation with duration of illness, similar to other reports [30]. Care level scores were independent of domain specific disability and perhaps related to the resilience and stoicism of caretakers. Despite the physical and mental disability, majority of the patients were being looked after at home, without specialized nursing care. The long commute to access health care, poverty, lack of faith in treatment, estrangement from family, and disability discouraged a fifth of the patients from maintaining follow-up.
This small set of individuals, seen over three years, informs us of the complex needs of those with HD, and their families. Inadequate knowledge about HD amongst the health care professionals, lack of resources for HD families, and their unmet needs and the relation to low quality of life scores [31, 32] highlights the need to improve the quality of care, even in developed countries.
A conservative estimate of about 75,000 HD patients in India [10, 14] would indicate almost a million at risk. There is an urgent need to develop organized services for HD, and perhaps the entire range of adult-onset neurodegenerative conditions. Advances in genetic diagnostics will add to the number of ‘identifiable’ conditions in the near future, but specific treatments informed by this research are still a long way away. In the meantime, symptomatic treatments in line with international guidelines recommended by Bachoud-Lévi et al., [33], specialised counselling for different category of CAG repeats, especially in the wake of new advances in gene modifiers as recommended by Migliore et al, [34], adequate rehabilitative services that improve the quality of life, and overall outcomes, need to be developed and sustained.