Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

BACKGROUND: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India. AIM: To describe the phenotypic and laboratory features of an Indian cohort of KD patients. METHODS: A retrospective study was done on seven genetically confirmed KD patients based on demographic, clinical and laboratory details. RESULTS: Mean age at onset and presentation was 37 ± 11.9 and 44.6 ± 13.5 years respectively. Progressive asymmetric proximal and distal limb weakness was the commonest symptom (57.1%). All patients had motor symptoms along with non-specific symptoms such as cramps from the onset. Easy fatigability, decremental response along with ptosis were noted in two patients, which was a novel finding. Gynaecomastia and tongue wasting with fasciculations were universal findings. All five patients with nerve conduction studies showed sensorimotor neuropathy. Magnetic resonance imaging muscle done in two patients showed a prominent moth-eaten appearance in the thigh and posterior leg compartment in one patient. The mean cytosine-adenine-guanine repeats were 44 ± 3.7, and there was no association between age of onset or severity with repeat length. Only one patient required an assistive device for ambulation after 15 years of symptom onset. CONCLUSIONS: This study showed phenotypic heterogeneity in the Indian cohort. The age of onset was earlier with a slowly progressive indolent course as compared with other ethnic cohorts. This highlights the importance of considering the KD diagnosis in patients with the indolent course and suspected ALS diagnosis even with ptosis and fatigability in an appropriate clinical context.

Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

The clinico-genetic architecture of sarcoglycanopathies in Indian patients is reported only as short series. In the present study, we aimed to investigate the clinical picture, genetic basis, and disease progression of patients genetically confirmed to have sarcoglycanopathy. Next-generation sequencing was performed in 68 probands with suspected sarcoglycanopathy. A total of 35 different variants were detected in the sarcoglycan genes in 68 probands (M = 37; age range, 5-50 years). Consanguinity was present in 44 families. Thirty-two variants are predicted to be pathogenic/likely pathogenic, among which 25 (78.13%) are reported, and 7 (21.87%) are novel. The clinical diagnosis was confirmed in a total of 64 (94.12%) probands with biallelic variations [SGCA(n=18); SGCB(n=34); SGCG(n=7); SGCD(n=5)]. The most common mutation was c.544A > C (p.Thr182Pro) in SGCB, and detected in 20 patients (29.42%). The majority of pathogenic mutations are homozygous (n = 30; 93.75%). Variants in 4 cases are of uncertain significance. Thirty-three patients lost ambulation at a mean age of 15.12 ± 9.47 years, after 7.76 ± 5.95 years into the illness. Only 2 patients had cardiac symptoms, and one had respiratory muscle involvement. The results from this study suggest that mutations in SGCB are most common, followed by SGCA, SGCG, and SGCD. The novel variations identified in this study expand the mutational spectrum of sarcoglycanopathies. To the best of our knowledge, this is the first study from India to describe a large cohort of genetically confirmed patients with sarcoglycanopathy and report its disease progression.

Cognition, Behavior, and Caregiver Stress in Dementia during the COVID-19 Pandemic: An Indian Perspective.

OBJECTIVES: Little is known regarding the cognitive and behavioral status of patients with dementia and their caregivers in lower middle-income countries during the COVID-19 pandemic. This study aimed to understand the impact of the pandemic on persons with dementia and their caregivers in India. METHODS: This was an observational study. A cohort of 66 persons with dementia and their caregivers were evaluated during the COVID-19 pandemic in 2 specialist hospitals in South India. Caregivers were interviewed at 2 distinct time points of the pandemic: during the national lockdown and 5 months after during later periods of the "cluster of cases" transmission phase. Participants were assessed via telephone utilizing validated instruments (Neuropsychiatric Inventory [NPI], Clinical Dementia Rating [CDR] Scale, and Depression, Anxiety and Stress Scale [DASS-21]) and a semi-structured questionnaire. The questionnaire documented sociodemographic information, clinical history, infection measures adopted, changes in caregiving routines, involvement in functional rehabilitation activities, and access to medical and long-term care support services. RESULTS: The 2-phase follow-up study found a significant worsening of behavior in dementia patients, demonstrated by a difference in the NPI sub-domain scores for anxiety (mean difference [standard deviation, SD] = -0.552 [1.993], t58 = -2.109, p = 0.039) and eating disturbances (mean difference [SD] = -1.121 [2.493], t59 = -3.424, p = 0.001). A relatively high proportion of patients developed anxiety (cumulative incidence = 24.53%) and eating disturbances (cumulative incidence = 26.92%), without having these symptoms at baseline. There was a trend toward an increase in proportion of persons with severe dementia (19.7% vs. 39.4%) on follow-up. Caregiver distress reported was significantly associated with neuropsychiatric symptoms (r = 0.712, p < 0.001) and dementia severity (ρ = 0.365, p = 0.004). In addition, difficulties in accessing medical care persisted between the 2 assessments, and there were statistically significant differences between functional rehabilitation activities such as indoor activities (p < 0.001), outdoor activities (p = 0.013), and physical exercises (p = 0.003) between baseline and follow-up. CONCLUSION: Findings suggest interruption of functional rehabilitation activities and disruption in medical care services are likely to have had an adverse impact on patients with dementia and contributed toward caregiver distress.

Clinical characteristics, treatment and long-term prognosis in patients with anti-NMDAR encephalitis.

OBJECTIVES: We aimed to (i) analyse the clinical characteristics, treatment outcome and long-term prognosis of anti-NMDAR encephalitis and (ii) study the differences between paediatric and adult patients. METHODS: This was a chart review of all patients with anti-NMDAR encephalitis. RESULTS: There were 28 patients with 18 patients belonging to the paediatric (<18 years) age group. There was female (94%) preponderance in the paediatric age group, while in adult patients, there was no gender predilection (p=0.006). There was no significant difference in clinical feature, outcome or number of relapses between paediatric and adult population groups. MRI brain was abnormal in 53% of patients. Among the 15 patients with MRI abnormalities at the onset, 53% had poor functional outcome at 1 year, while in 12 patients with normal initial MRI brain, only 8% had poor functional outcome at 1 year (p =0.01). Nearly 53% of patients with abnormal MRI at presentation had at least one clinical relapse within 2 years while in patients with normal MRI at presentation, 15% had a clinical relapse (p=0.037). EEG abnormalities were noticed in 71% of patients; among them, 40 and 15% had poor functional outcome at 1 and 2 years respectively. In comparison, those with normal first EEG at onset, 12% had poor functional outcome at 2 years (p=0.57). CONCLUSIONS: Both paediatric and adult patients presented with similar clinical features but the paediatric population had female preponderance. The functional outcome and number of relapse were comparable in both the paediatric and adult groups. Patients with parenchymal changes on MRI and abnormal EEG showed poorer response compared to those with normal MRI and/or EEG at the onset. Patients have lesser severity of symptoms at relapse than in the first episode. An early diagnosis and treatment are essential for better long-term functional outcome.

Integrated Home-Based Palliative Care in Motor Neuron Disease: A Case Report from Low- Middle Income Country.

In many international care guidelines, multidisciplinary palliative care forms a key to optimum management in Motor Neuron Disease (MND). We describe the home-based palliative care interventions for a client with MND and his family from a Low and Middle-income country context. This report also discusses the advantages and challenges of the same with suggestions for sustaining the quality of care for neuro palliative conditions.

Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding.

INTRODUCTION: Duchene muscular dystrophy (DMD) is a neuromuscular disease of childhood, which has clear progression. The international standardized care guidelines for DMD suggest that palliative care is essential for the affected children. OBJECTIVE: To explore the parent's understanding of palliative care services available for children with DMD and the challenges faced by them in utilizing the same. METHODS: A cross-sectional qualitative exploratory study was conducted among six families of boys diagnosed with DMD. A semi-structured interview guide with prompts was used to conduct in-depth interviews which lasted for an average of 1 h. Thematic analysis was done to identify the pattern or themes. RESULTS: The major themes identified were "palliative care, living with DMD, Awareness about palliative care services and challenges." Awareness about palliative care services is the dominant theme identified as influencing rest of the experiences narrated by the parents of children with DMD. DISCUSSION: Integration of palliative care services from an early stage of the illness can help the child to make transition from one stage to another stage of the illness. To ensure the utilization of the available palliative care services, there is a need to create awareness about it among the general public. CONCLUSION: Introducing the concept of palliation of symptoms and ensuring quality of life of the child with DMD by accessing the available services can aid the parents to reach out for help for their child.

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis.

INTRODUCTION: Motor neuron disease (MND) is a progressive neuromuscular disorder that can have significant and debilitating impact on the affected patient and families. Spouses are the primary carers for persons with MND in India, and the life of the person with MND and their spouse is never the same after the diagnosis. AIM: The objective was to explore the lived experience of spouses of persons diagnosed with MND. METHODS: A qualitative exploratory study with three-point interviews was conducted with spouse caregivers of two persons diagnosed with MND who were receiving treatment from a national tertiary referral care center for neurological disorders. All the patients were diagnosed as definite MND according to the modified El Escorial criteria. With the spouses, in-depth interviews were conducted at their home, lasting on an average of 1 hour using a semi-structured interview guide (prompts). Interpretative phenomenological analysis was used to derive themes from the interviews. RESULTS: The major themes emerged from the analysis were meaning of MND which contained the subthemes of delay in diagnosis and deterioration, psychological response across illness trajectory, relationship with the subthemes of changing roles in being acarer, marital relationship, to be seen as doing "right," and communication; adaptation with the subthemes of coping strategies and support system and life without the loved one. CONCLUSION: The changes in the lives of spouses and in strategies for caring the partner with deterioration of symptoms in the illness trajectory are explained in this study. The palliative approach in the management of MND has to take into account, the experiences and needs of carers since care happens at home.

Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India.

Motor neuron disease (MND) is a progressive neurodegenerative disease. Ideal management plan in MND includes palliative care initiated from the time of diagnosis. At present, most of the neurodegenerative conditions are cared for at home. Neuropalliative care is an emerging concept in India and social workers are integral team members in this process. The primary aims of the study were to explore (a) the caregivers' experiences of the end-of-life stage, and (b) the sources of support for individuals and their caregivers with MND at the end-of-life stage. In-depth interviews were conducted with seven bereaved caregivers of individuals with MND from a national tertiary referral care center for neuropsychiatry in South India. Interviews were conducted either in person or by telephone. Thematic analysis was done using the constant comparative method. Major themes derived from the interviews were: (1) Transition from person to patient, (2) support, (3) death, and (4) impact on the caregivers. Mapping of themes identified "Support received during advanced stages" as the central theme influencing all other themes. The need for a care manager seems evident and is a role that can be effectively fulfilled by the care teams' social workers.

Palliative Care Social Work In India: Current Status and Future Directions.

Palliative care (PC) involves total care for persons suffering from life-threatening illnesses and their families. Social work as a profession and an academic discipline is gaining momentum in India for the past few decades. A large number of professional social workers are working with individuals, families, and communities to provide PC in India. Authors have presented the current status of PC social work interventions and discussed the future directions in the practice, research, and training in PC and end-of-life care.

Neuropalliative Care in India - Barriers, Challenges and Future Directions.

Neuropalliative care is an emerging sub-specialty of neurology and palliative care that aims to relieve suffering from symptoms, reduce distress and improve the quality of life of people with life-limiting neurological conditions and their family caregivers. As advances are being made in the prevention, diagnosis, and treatment of neurological illnesses, there is an increasing need to guide and support patients and their families through complex choices involving immense uncertainty and important life-changing outcomes. The unmet need for palliative care in neurological illnesses is high, especially in a low-resource setting like India. This article discusses the scope of neuropalliative care in India, the barriers and challenges that impede the specialty's development, and the factors that could facilitate the development and scale-up delivery of neuropalliative services. The article also attempts to highlight priority areas for advancing neuropalliative care in India which include context-specific assessment tools, sensitization of the healthcare system, identification of intervention outcomes, the need for developing culturally sensitive models based on home-based or community-based care, evidence-based practices, and development of manpower and training resources.

Disability Certification for Parkinson's Disease in India: Challenges and the Way Forward.

Disability certification is mandatory for people with Parkinson's disease to avail any schemes and benefits in India. The process of certification of the extent of disability in a complex disorder like Parkinson's needs to be made less cumbersome and streamlined to ensure that people for whom the benefits are meant are able to avail them.

An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings.

OBJECTIVE: To develop individualised psychosocial intervention program for people with MND and their families in India. METHODS: People with MND and healthcare staff were constructively involved in co-designing the intervention program in four phases adapted from the MRC framework: 1. A detailed need assessment phase where 30 participants shared their perceptions of psychosocial needs 2. Developing the intervention module (synthesis of narrative review, identified needs); 3. Feasibility testing of the intervention program among seven participants; 4. Feedback from participants on the feasibility (acceptance, practicality adaptation). The study adopted an exploratory research design. RESULTS: Intervention program of nine sessions, addressing psychosocial challenges through the different stages of progression of the illness and ways to handle the challenges, specific to the low resource settings, was developed and was found to be feasible. People with MND and families who participated in the feasibility study shared the perceived benefit through feedback interviews. CONCLUSION: MND has changing needs and challenges. Intervention programme was found to be feasible to be implemented among larger group to establish efficacy.

Pathways to care for people with dementia in India: An exploratory study using case vignettes.

BACKGROUND: Limited evidence exists on how people living with dementia and their family/unpaid carers navigate care and support in India. AIM: This study used case vignettes to illustrate likely pathways to care for dementia, from receiving a diagnosis to long-term support, in India and to highlight gaps and challenges associated with current care provision for persons living with dementia. METHODS: As part of the Strengthening Responses to Dementia in Developing Countries (STRiDE) project, and to contribute to an analysis of dementia care policies and systems in India, case vignettes were used to illustrate the diverse situations that people with dementia and their families may experience when seeking care in the Indian context. Eight hypothetical, but realistic cases of people with dementia were created by a multi-disciplinary team with experience in dementia care in India, to map out the likely care journeys of each case. RESULTS: Investigating eight diverse care trajectories of people living with dementia highlighted important patterns relevant to the Indian context. We identified delays in dementia diagnosis to be attributed to low awareness of dementia among the general public and medical professionals in addition to a critical shortage of specialist services involved in facilitating dementia diagnosis. Post-diagnosis, support was recognized as limited and associated with considerable out-of-pocket (OOP) costs. Families primarily provide long-term care for people with dementia till end of life. CONCLUSIONS AND RECOMMENDATIONS: Several steps need to be taken in order to improve dementia care in India. Increasing dementia awareness among both medical professionals and general public is essential. Shortages in dementia specialists can be addressed in part through appropriate task shifting. Lastly, more research is needed to develop evidence-based community interventions to support informal care provision for persons with dementia in India.

Profile of Acute Encephalitis Syndrome Patients from South India.

Introduction: Encephalitis is a major public health problem worldwide that causes huge emotional and economic loss to humanity. Encephalitis, being a serious illness, affects people of all ages. The aim is to describe the sociodemographic, clinical, etiological, and neuroimaging profile among 101 acute encephalitis syndrome (AES) patients visiting a tertiary neuro-specialty care hospital in India. Methods: Record review of medical records of all patients attending neurology emergency and outpatient services at NIMHANS Hospital, diagnosed with AES in 2019, was conducted. Data were collected using standardized data collection forms for all cases in the study. Descriptive analyses (mean and standard deviation for continuous variables and proportions for categorical variables) were conducted. The Chi-square test/Fisher's exact test was used for the comparison of independent groups for categorical variables, and t-test for comparing means for continuous variables. Results: About 42.6% of AES patients had viral etiology, while in 57.4%, etiology was not ascertained. Common presenting symptoms were fever (96%), altered sensorium (64.4%), seizures (70.3%), headache (42.6%), and vomiting (27.7%). Herpes simplex was the most common (21.8%) identified viral encephalitis, followed by chikungunya (5%), arboviruses (chikungunya and dengue) (4%), Japanese encephalitis (4%), rabies (3%), dengue (1%), and varicella virus (1%). About 40% of AES patients showed cerebrospinal fluid pleocytosis (44%), increased protein (39.6%), abnormal computed tomography brain (44.6%), and magnetic resonance imaging abnormalities (41.6%). Conclusion: The study highlights the need to ascertain etiology and importance of evidence-based management of AES patients. A better understanding of opportunities and limitations in the management and implementation of standard laboratory and diagnostic algorithms can favor better diagnosis and management of AES.

Effectiveness of multi-disciplinary structured training program on mentoring and mental well-being for officers and instructors in the Indian Air Force.

Background: The military environment is characterized by unpredictable situations, intensive training, demanding workload, and job-associated stressors, which make it highly stressful. Mentorship and mental well-being training could be beneficial to both officers and the new adolescent recruits of the Indian Air Force (IAF). Aim: This study aimed at evaluating the effect of a multi-disciplinary structured training on mentoring and mental well-being among officers and instructors in the IAF. Methods: Seventy IAF officers/instructors underwent a week-long multi-disciplinary structured training program, which was conducted at a tertiary care neuro-psychiatric hospital in South India. A quasi-experimental design with a single-group pre- and post-test was adopted. Outcome measures included a) knowledge on mentorship and mental health and b) self-perceived competence in addressing mental health distress. Results: Post training, there was a statistically significant improvement in scores on mentorship/mental health knowledge and a significant increase in self-perceived competence in addressing mental distress. Conclusion: Mentorship and mental well-being training for officers and instructors in the IAF improved mental health knowledge and self-perceived competence. Therefore, administration of regular and in-depth structured mental health-related training interventions could be beneficial not only to the officers but also to the new recruits/mentees in the IAF.

Psychosocial Factors in Brain Infections Research in the Last Decade: A Scoping Review.

Background: Brain infections are serious neurological events that require immediate care, with around 171 districts of 19 states in India reporting cases every year. Along with the biomedical factors, psychosocial factors of health (BPS) are influential in the outcomes of brain infections as well. Materials and Methods: A scoping review was conducted to understand the psychosocial factors explored in brain infections in the last decade. Articles focusing on social, psychological, public health factors, sequelae, and rehabilitation of inflammatory conditions, both pathogenic and autoimmune were covered. The search was conducted using keywords related to brain infections in electronic databases: PubMed, EBSCO, ProQuest, Scopus, and Google Scholar. Prisma-ScR guidelines were used to screen articles and the identified factors were categorized under eight psychosocial factors using Arksey and O'Malley's framework of analysis. Results: From a total of 6012 documents retrieved, 11 articles met the criteria. Global burden associated with brain infections, disability and death, the vulnerable population at risk of developing brain infections, gaps in existing literature, pathways to care, mental health, cognitive difficulty associated with infections and their sequelae were the major psychosocial factors identified. Conclusions: The review focussed to understand the multitude of psychosocial factors causing delay and damage in brain infections in LMIC context. Along with biomedical factors, there exist several psychosocial factors that could potentially influence the outcome of treatment in brain infections. However, only few have been explored, suggesting the need for more studies to inform the care and sustainable interventions at the macro level to improve the outcomes and reduce the burden in brain infections.

Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context.

Background: The caregivers of persons with motor neuron disease (MND) have several needs that are usually not voiced on any platform. Aim: To explore the lived experience of spouses of persons with MND, identify their needs and develop guidelines for better home-based care. Method: An exploratory study with 3-point in-depth interviews among 13 participants was conducted. Participants were the spouses of persons with MND under treatment at a national quaternary referral center. The interpretative phenomenological analysis identified participants' needs. These needs, with literature review synthesis, guided the drafting of guidelines, which was validated by experts. Results: The needs were emotional, social, care systems, and skills. The guidelines developed contained 2 sections (1) Information for the spouses: understanding MND, communication, symptom management, marital relationship, palliative care, and everyday life made easier. (2) Well-being of the spouse caregivers: well-being of the spouse caregivers, self-care, mental health, supporting carers in palliative care, where to find help. Conclusion: The guidelines can be developed as a manual for the caregivers and for training healthcare professionals working with neurodegenerative conditions.

Understanding, experiences and attitudes of dementia in India: A qualitative study.

India is the world's second-most populous country and there are about 5.3 million people with dementia in India. Only one out of ten people living with dementia in India ever gets a diagnosis, care or treatment. There are various obstacles to deliver dementia care and support to people living with dementia and their carers. Furthermore, there is inadequate understanding of dementia in the general public and within the health care professionals. Studies in India indicate that people with dementia experience stigmatisation in society as well as neglect from their families. Social prejudice associated with dementia makes it a challenging experience, in addition, it makes the persons with dementia and carers feel isolated and stigmatised. Focus groups and individual interviews were used to explore perceptions, beliefs and experiences of dementia across a number of stakeholders in India, with an effort to understand stigma towards people with dementia. Participants were recruited in two diverse cities of India (Chennai and Delhi), and were comprised of a range of key stakeholders, including persons with dementia (n = 8), caregivers (n = 19), health care professionals (n = 16) and the general public (n = 15). Following a thematic analysis, we identified three overachieving themes; (1) Poor awareness, (2) Stigma and (3) Barriers to accessing care. These all occurred within the context of socio-cultural beliefs. Whilst each stakeholder group had different experiences of dementia, it was common for all participant groups to use stigmatising language associated with dementia. In many cases, stigmatising beliefs and poor understanding of dementia resulted in poor care. There is an apparent need to raise awareness of dementia in India across all stakeholder groups; the fact that participants were able to self-identify that they had a lacked awareness of the condition may indicate that these groups are receptive to learning more about dementia.

Beyond the project: Building a strategic theory of change to address dementia care, treatment and support gaps across seven middle-income countries.

Evidence from middle-income countries indicates high and increasing prevalence of dementia and need for services. However, there has been little investment in care, treatment or support for people living with dementia and their carers. The Strengthening Responses to Dementia in Developing Countries (STRiDE) project aims to build both research capacity and evidence on dementia care and services in Brazil, Indonesia, India, Jamaica, Kenya, Mexico and South Africa. This article presents the Theory of Change (ToC) approach we used to co-design our research project and to develop a strategic direction for dementia care, treatment and support, with stakeholders. ToC makes explicit the process underlying how a programme will achieve its impact. We developed ToCs in each country and across the STRiDE project with researchers, practitioners, people living with dementia, carers and policymakers at different levels of government. This involved (1) an initial ToC workshop with all project partners (43 participants); (2) ToC workshops in each STRiDE country (22-49 participants in each); (3) comparison between country-specific and overall project ToCs; (4) review of ToCs in light of WHO dementia guidelines and action plan and (5) a final review. Our experiences suggest ToC is an effective way to generate a shared vision for dementia care, treatment and support among diverse stakeholders. However, the project contribution should be clearly delineated and use additional strategies to ensure appropriate participation from people living with dementia and their carers in the ToC process.

Quality of Life and Stigma among Women with Epilepsy during Their Reproductive Years.

BACKGROUND AND PURPOSE: The purpose of this study was to understand the relationship between quality of life and stigma among reproductive age group women with epilepsy. METHODS: A cross-sectional descriptive study was conducted to assess the data from the 49 women with epilepsy from a tertiary care hospital in India. Quality of life was evaluated with the quality of life in epilepsy-31 questionnaire and stigma was evaluated with the stigma scale of epilepsy. Data also included socio-demographic and clinical characteristics. RESULTS: The mean age of the participants was 24.67±3.72 years. Quality of life total score (r=-0.485**) and seizure worry domain (r=-0.427**) were significantly negatively correlated with stigma total score at p<0.01 level. Being uneducated, married, unemployed, having children, having generalized tonic-clonic seizures, duration of illness (>10 years), and consuming levetiracetam, anti-epileptic drug (AED), were the significant contributing factors for low quality of life among women with epilepsy during the reproductive age group. Belonging to lower socio-economic status and taking more than two AEDs were also associated with lower quality of life among women with epilepsy, which are trending towards significance. CONCLUSIONS: The study assessed the relationship between the quality of life and the Stigma scale of epilepsy and demonstrated the impact of stigma and quality of life on socio-demographic and clinical variables of women with epilepsy under the reproductive age group. To enhance the quality of life and reduce the stigma levels among women with epilepsy, some of the modifiable parameters can be considered by the multidisciplinary health care professionals from the findings of the current research.