Genetic literacy and attitude towards genetic testing in patients with Parkinson's disease and their caregivers: A review of literature.

BACKGROUND: Genetic literacy refers to an individual's ability to understand the basics of genetic concepts and apply them to health-related decisions. The level of genetic literacy influences attitude towards genetic testing and is, in turn, influenced by several other factors. Clinicians must be aware of the genetic literacy of their patients and their caregivers before advising genetic testing and/or undertaking pre and post-test counseling. METHOD: A systematic review of literature in PubMed was carried out using keywords "Genetic testing", "Genetic counseling", "Knowledge", "Attitude", "Parkinson's disease" in various combinations. RESULTS: Seven eligible studies with a total of 1837 individuals (patients with PD-1355 and patient caregivers-482) were identified. More than half the participants were well-versed in basic concepts of genetics (57.8%) and risks of inheriting PD (60.5%) while less than 10% were aware regarding the contribution of specific genes (e.g. LRRK2). Interest in diagnosis, treatment, prevention and facilitating PD research were central themes for positive attitude while apprehensions revolving around impact on employment and insurance and non-benefit were associated with negative attitudes. Possible associations included greater knowledge scores with positive attitudes towards genetic testing and older age for negative attitude towards testing. Insufficient data on attitudes toward prenatal testing, presymptomatic testing and clinicians' attitude toward testing was identified. CONCLUSION: Patients with PD and their caregivers are aware of the role of genetics in the etiopathogenesis of their disease, which contributes to their positive attitude towards testing. Further studies exploring negative attitudes towards testing will help overcome the hurdles in genetic testing and counseling in this cohort of patients.

Impact of stress and decision fatigue on parenting practices related to food and physical activity during COVID-19.

BACKGROUND: The COVID-19 pandemic has resulted in substantial disruptions to daily functioning and lifestyle behaviours, with negative health consequences for youth. Parents play a large role in their children's health behaviour; yet changes to parenting behaviours during the pandemic related to food and physical activity remain relatively unexplored. The present study is the first to our knowledge to examine specific changes in American parents' parenting behaviours related to food and physical activity during COVID-19, and potential correlates of such changes, including perceived stress and decision fatigue. METHODS: A total of 140 parents (88.57% female; 88.41% White; 87.59% married; with one to five children) from middle to upper income households completed an online survey assessing demographics, perceived stress (Perceived Stress Scale), decision fatigue (Decision Fatigue Scale) and food and activity parenting behaviour changes during COVID-19. RESULTS: Overall, a greater proportion of parents engaged primarily in positive (57.14%) than negative (22.86%) parenting practices related to food and physical activity during the pandemic. Moderation analyses showed that the negative relation between perceived stress and positive parental behaviour changes was stronger at higher perceived increases in decision fatigue during the pandemic. CONCLUSIONS: In the face of a major public health crisis, adaptive parental responses may emerge, but perceived stress may inhibit such behaviour change. Perceived stress and decision fatigue may represent important explanatory factors in parental health promoting behaviours during times of uncertainty and change.

A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India.

We present a case of a 40-year-old man with rapid decline in cognition followed by Parkinsonism, apraxia and stimulus sensitive myoclonus within 9 months of onset. Magnetic Resonance imaging (MRI) showed periventricular confluent white matter changes with persistent diffusion restriction even after 9 months. Clinical exome sequencing showed colony stimulating factor 1 receptor (CSF1R) gene mutation. The phenotype, MRI and genotype are suggestive of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). This is the first case being reported from India. Differential diagnosis of young onset dementia is broad. Therefore, finding the exact etiology is challenging. Neuroimaging and genetic analysis greatly aid in the final diagnosis.

Novel CSF1R variant in adult-onset leukoencephalopathy masquerading as frontotemporal dementia: a follow-up study.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease manifesting as progressive cognitive decline, pyramidal, and extrapyramidal features resulting from mutations in the colony-stimulating factor-1 receptor (CSF1R) gene. We describe a sporadic case of a young man who developed five months history of progressive cognitive decline with predominant neuropsychiatric symptoms, suggestive of frontotemporal dementia. Brain magnetic resonance imaging (MRI) showed bilateral frontotemporal atrophy, high signal intensities in frontal and high parietal deep white matter with persistent diffusion restriction on follow-up imaging. Genetics showed a novel heterozygous mutation in CSF1R gene confirming the diagnosis of ALSP. Being a rare disease, and given its particular adult-onset presentation especially presenile cognitive impairment, it can pose a unique diagnostic challenge. The study highlights the importance of recognizing the disease early and broadens the clinical, genetic, and imaging spectrum of CSF1R gene mutation.

Study of clinical profile and antibiotic sensitivity in paratyphoid Fever cases admitted at teaching hospital in South India.

CONTEXT: Globally, there has been an increase in incidence of paratyphoid fever, including paratyphoid fever caused by antimicrobial-resistant strains. Studying the clinical profile and antimicrobial sensitivity of paratyphoid fever would help in early diagnosis, appropriate treatment, rational use of antibiotics and prevent drug resistance. AIM: The aim of the study was to evaluate the clinical profile and sensitivity patterns of antibiotics used in the treatment of paratyphoid fever. SETTINGS AND DESIGN: A record-based study was done in tertiary care hospital, South India. MATERIALS AND METHODS: A retrospective analysis of culture-proven cases of paratyphoid fever was done in a tertiary care hospital. The socio-demographic characteristics, mode of presentation and the sensitivity pattern of isolates from blood culture were recorded. One hundred and ten case files of Salmonella paratyphi were reviewed from the medical records section and the required data (data regarding the clinical profile and antibiotic sensitivity) was collected and analyzed using SPSS version 11.5. RESULTS: Fever was present in all patients. All the cases were sensitive for third-generation cephalosporins, and only 31.8% of the cases were sensitive for quinolones. Sensitivity towards other antibiotics in descending order was as follows: ampicillin 93.6%, chloramphenicol 91.8%, aminoglycosides 90.4% and sulphonamides 76.4%. CONCLUSIONS: Research shows that there is increasing resistance to fluoroquinolones and sensitivity to chloramphenicol. Considering the changing trend in the sensitivity pattern, the recommendations of treatment for enteric fever need to be rationalized and re-considered.

Attitudes Toward Euthanasia Among Doctors in a Tertiary Care Hospital in South India: A Cross Sectional study.

CONTEXT: Advances in expertise and equipment have enabled the medical profession to exercise more control over the processes of life and death, creating a number of moral and ethical dilemmas. People may live for extended periods with chronic painful or debilitating conditions that may be incurable. AIM: This study attempts to study the attitudes of doctors toward euthanasia and the possible factors responsible for these attitudes. SETTINGS AND DESIGN: A cross-sectional survey of 213 doctors working at a tertiary care hospital was conducted to determine their attitudes toward euthanasia. MATERIALS AND METHODS: A self-administered questionnaire was used to assess attitudes and personal perceptions about euthanasia. STATISTICAL ANALYSIS USED: The Chi square test was used to assess factors influencing attitudes toward euthanasia. RESULTS: A majority of the respondents (69.3%) supported the concept of euthanasia. Relief from unbearable pain and suffering was the most commonly (80.3%) cited reason for being willing to consider the option of euthanasia. Majority of those who were against euthanasia (66.2%) felt that the freedom to perform euthanasia could easily be misused. Disapproval of euthanasia was associated with religious affiliation (P<0.001) and speciality (P<0.001). CONCLUSIONS: A majority of the doctors in this study supported euthanasia for the relief of unbearable pain and suffering. Religion and speciality appear to be significant in determining attitudes toward euthanasia.