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

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.

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

“…Furthermore, heterozygote carriers for some autosomal recessive (AR) IEMs have been reported to present with psychiatric symptoms that can be ameliorated by treating the underlying genetic condition (Cocco et al, 2009; Tarnacka et al, 2009). Besides IEMs, there are other treatable genetic disorders (TGDs) that can present with psychiatric phenotypes, including repeat expansion disorders, neurocutaneous disorders, and channelopathies (Cabal‐Herrera et al, 2020; Kleopa, 2011; Northrup et al, 2018; Peng et al, 2018; Ratna et al, 2020). Examples of treatments for genetic disorders include specific drugs, such as miglustat for the treatment of Niemann–Pick disease type C (Patterson et al, 2020) and copper chelators for Wilson disease (Litwin et al, 2019), lifestyle modifications, such as avoidance of alcohol and fasting for acute intermittent porphyria (AIP) (Fontanellas et al, 2016), dietary treatment, such as low‐protein diet in urea cycle defects or phenylketonuria (Häberle et al, 2019), vitamin supplementation, such as folic acid, and vitamins B6 and B12 for homocystinuria (Jitpimolmard et al, 2020), and antiepileptic drugs for channelopathies, amongst many others (Baraban et al, 2013; Knupp & Wirrell, 2018; Pastor et al, 2018; Wolff et al, 2019).…”