Current Status of Genetic Counselling for Rare Diseases in Spain

Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.

A study to Assess the Psychosocial Issues Associated with Covid-19 Pandemic among the Family Members of Third year B.Sc. Nursing Students in selected Colleges of Pathanamthitta District

Background: In January 2020, the World Health Organization (WHO) declared that Covid-19 is characterized as pandemic. It is a major health crisis affecting several nations. The crisis generates stresses throughout the population. This pandemic condition is leading the public to experience psychosocial problems such as post- traumatic stress disorders, psychological distress, depression and anxiety. Objectives: 1. To assess the psychosocial issues of family members of third year BSc nursing students regarding the covid-19 pandemic. 2. To find out the association between the psychosocial issues with demographic variables. 3. To implement psychosocial education to overcome the psychosocial issues related to covid -19 pandemic. Methodology: A Non-experimental descriptive survey design was used to assess the perceived psychosocial issues associated with COVID-19 pandemic among the family members. The study was conducted among 50 samples selected by inclusion and exclusion criteria through random sampling technique. The data was collected by using a baseline data questionnaire. The data were collected, tabulated and analyzed by using descriptive and inferential statistics. Chi-square test was used to find out the association between selected demographic variables and psychological issues. Results: In the present study, the finding shows that the 76% of the parents have moderate impact on daily life style. 64% of parents have a mild impact on finance. 61% of the parents have mild insomnia. 60% of the parents have moderate level of anxiety and depression. Conclusion: The study concludes that psychosocial issues are a common phenomenon among the parents and grandparents.

Mental health and psychosocial wellbeing during Covid-19

Worldwide COVID-19 pandemic had led to a prolonged stressful condition and bring about more psychological and social effects in the community. This condition is commonly seen in each group and more commonly it has affected in children, older peoples and even the health workers who are exposed and likely to bring about the condition of stress, anxiety, uneasiness and depression. These prolonged psychosocial issues may result in mental health problems and long-term consequence on the mental functioning and coping capacities of family members. The aim of this article is to explain some of the psychosocial impacts, and more is emphasis given in identifying these psychosocial problems and some of the strategies which can be used to overcome these issues.

Psychosocial issues among primary caregivers of patients with advanced head and neck cancer - A mixed-method study

Objectives: This study aims to explore the psychosocial issues faced by the primary caregivers of advanced head and neck cancer patients with the primary objective to understand their experiences within social context. Materials and Methods: Burden and QOL of caregivers (n = 15) were quantified using Zarit Burden Interview schedule and caregiver quality of life index-cancer (CQOLC), respectively. Primary caregivers (n = 10) were interviewed using semi-structured interview schedule. Thematic analysis was employed to analyse the qualitative data. Descriptive statistics was used for quantitative data. Results: Four major themes emerged: (1) Impacts of caregiving, (2) coping with caregiving, (3) caregiver’s appraisal of caregiving and (4) caregiver’s perception of illness. Majority (73.3%) of the caregivers had QOL below 100. The mean CQOLC score was 73.07 (SD 24.17) and most (46.7%) of the caregivers reported mild-to-moderate burden, while 27% had little to no burden. The mean ZBI score was 32.4 (SD 18.20). Conclusion: Caregiving impacts the physical, emotional, financial and social aspects of caregiver’s life. Caregivers adopt active coping strategies to overcome the impacts of caregiving. Family acts as a major source of strength to manage the emotional constraints faced by Indian caregivers. Cultural beliefs and values of caregivers influence their appraisal of caregiving situation. Majority of the caregivers experienced mild-to-moderate burden while most of the caregivers scored low on QOL.

A Qualitative Study about the Psychosocial Issues of COVID-19 Perceived by the South Asian Bangladeshi Senior Immigrants Living in Toronto, Ontario

Background: People stayed home and got isolated during the pandemic time (COVID-19). The pandemic passed more than a year, and it is still ongoing. There is not enough information about the psychological and social issues of the COVID-19 on the South Asian senior immigrants living in Toronto. Aim: The study aimed to explore the description of COVID-19 from the experience of the South Asian seniors and to understand the perceived psychosocial issues of COVID-19 on them. It helps policymakers develop adequate policies and initiatives for the South Asian Bangladeshi senior immigrants during and after the pandemic. Methods: The study applied open-ended questions for the phone interview with 52 seniors (>55 years). It used thematic analysis for the interpretation of qualitative data. Each interview took 45-60 minutes to complete. Results: The seniors described COVID-19 in medical, mental, and social aspects. They described COVID-19 as ‘viral and pandemic infections,’ ‘health problems,’ ‘lack of treatment,’ and ‘death.’ They also described COVID-19 as ‘worrying,’ ‘dangerous,’ ‘isolated society,’ ‘lack of recreation,’ ‘staying home like a prison,’ and ‘shut down everywhere.’ Many seniors felt lonely as the pandemic disconnected them from the family members and the outdoor activities. They were also scared to get infected, were worried about seeing deaths and the shortage of vaccines worldwide and were sad as they could not meet people in person. Many seniors stayed home for months. They could not go outside for worship, doctors, shopping malls, and they felt that they had an unusual lifestyle. Conclusion: Based on findings, adequate information, mental health supports, and virtual programs are needed to address the psychological and social issues of COVID-19.

Psychosocial Family Post-landslide Disasters in the Mountain Areas: A Qualitative Study during COVID-19 Pandemic

BACKGROUND: Natural disasters and the COVID-19 pandemic can cause various physical, social, and psychological problems for families. AIM: This study aims to determine the description of family psychosocial problems after the landslide disaster during the COVID-19 pandemic. METHODS: A qualitative descriptive research approach is used to find out the description and problems in detail. Focus group discussions were conducted with eight respondents who were affected by landslides. Furthermore, data analysis was carried out descriptively by bringing up several themes. RESULTS: We found four themes, namely, realizing there was something wrong with the physical, coping, and support system, sex being one of the primary needs, and the need to reduce psychosocial stress. From these four themes, one theme was found, namely, sex being one of the primary needs needed by the participants. We also found that all respondents were not afraid of the COVID-19 condition, but instead, they were more worried about their next house and place to live. This triggers psychosocial problems in the families of disaster victims. CONCLUSION: Family psychosocial problems experienced by landslide victims are eating and drinking, and psychosocial issues are also felt. The cause turns out to be from the effects of loss or the environment. Therefore, nurses can carry out trauma healing interventions by considering the source of the problem from the family.

Eating Disorders and Type 1 Diabetes: a perspective

: Patients with type 1 diabetes (T1D) are at risk of clinical eating disorders (EDs) and disordered eating behaviors (DEBs) than the general population. This burden is related mainly to diabetes-related physical and psychosocial issues especially beginning during childhood. DEBs must be investigated carefully and promptly managed in case of suspicion, as they can evolve into severe clinical EDs over time and are strictly related to poor outcomes. The significant number of scientific articles dealing with the relationship between T1D and DEBs or EDs confirms the complexity of these problems and the difficulties in diagnosis and treatment. This paper examined current scientific literature related to this topic, emphasizing the epidemiological and clinical complexity of the phenomenon and briefly summarizing EDBs management strategy in T1D patients.

Assessment of Quality of Life in Chinese Patients with Chronic Lymphocytic Leukemia

Background: Despite the changing landscape of treatment of chronic lymphoma leukemia (CLL) and in contrast to the large number of quality of life (QoL) and psychosocial studies in patients with solid tumors, relatively few studies have reported QoL in patients with CLL. This study aims to assess depression, anxiety, stress and QoL in a Chinese CLL cohort. Patients and Methods: Taking advantage of the European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30 accompanying CLL-specific module QLQ-CLL17 questionnaire and DASS-21 questionnaire, a total of 50 Chinese patients with CLL completed self-reported questionnaires from December 2019 to July 2021, assessing the level of depression, anxiety, stress and QoL. Results: Among the 50 CLL patients, 34 patients were male. The median age was 57 (22-77) years old. 66% of the patients were uncertain about the staging of the disease. 36% of the patients were uncertain about therapeutic implications of CLL. According to EORTC QLQ-C30, patients had low level of physical functioning, role functioning, emotional functioning, cognitive functioning and social functioning were 80%, 32%, 68%, 66%, 64%, respectively. Patients in active-treatment group had significantly lower level of physical function than "watch and wait" group (90% vs. 65%, P=0.03). The proportion of patients with cognitive problems was significantly higher in female patients than in male patients (93.8% vs. 52.9%, P=0.004). According to QLQ-CLL17, patients with symptom burden, physical condition and worries about health were 94% (47/50), 86% (43/50), 98% (48/50). Patients under 60 years old had higher scores for worries about health than patients older than 60. According to DASS-21 questionnaire, 86% of the patients had depression symptomatic scores (mild grade: 2%, medium grade: 52%, severe grade: 20%, very severe grade: 12%). 84% of the patients had anxiety symptomatic scores ( mild grade: 6%, medium grade: 14%, severe grade: 30%, very severe grade: 34%). 64% of the patients had stress symptomatic scores ( mild grade: 18%, medium grade: 22%, severe grade: 16%, very severe grade: 8%). And these psychosocial issues had no significant correlation with gender, age, household income and treatment . The same questionnaires were completed by 5 patients for the second time after median 8（2-18）months. Compared to the initial assessment, they scored significantly worse on the emotional scales (P=0.0237). No significant difference regarding physical functioning, role functioning, cognitive functioning and social functioning were observed between the former and the latter. Conclusions: The majority of CLL patients had impaired QoL and psychosocial issues. Active-treatment patients had worse physical condition than "watch and wait" patients. Male patients had better cognitive functioning. Younger patients had more worries about health than the elderly. Greater efforts should be made in management of CLL patients. Disclosures No relevant conflicts of interest to declare.