Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families

Congenital nephrotic syndrome of the Finnish type is a rare autosomal recessive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease locus has been mapped recently to chromosome 19q12-q13.1 in Finnish families. This paper describes the clinical features and outcome of 20 patients in Ireland with congenital nephrotic syndrome of the Finnish type who have presented since 1980. Before 1987, all infants died by the age of 3 years. After the introduction of daily intravenous albumin infusion, nutritional support, elective bilateral nephrectomy, and renal transplantation, mortality in the past decade has fallen to 30%, with no deaths in the past five years. Genetic linkage analysis was performed in six families in whom DNA was available and the locus responsible was mapped to the same region on chromosome 19 as in Finnish families, suggesting that Irish families share the same disease locus.

Family-based association studies of lipid gene polymorphisms in coronary artery disease

Dysfunction of lipid-metabolizing proteins is implicated in the pathogenesis of coronary artery disease. Single nucleotide polymorphisms in genes that encode sterol regulatory binding protein-la, adenosine triphosphate binding cassette-A1, hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein were assessed as potential markers of disease susceptibility in a family-based study of 1,012 patients from 386 families. Association between single nucleotide polymorphisms and coronary artery disease was tested by the combined transmission disequilibrium test/sib transmission disequilibrium test and pedigree disequilibrium test. After Bonferroni's correction, the pedigree disequilibrium test demonstrated significant excess transmission (p < 0.0083) to affected patients of the hepatic lipase -514 T allele, which suggests that this may constitute a novel disease-susceptibility locus. (c) 2005 Elsevier Inc. All rights reserved.

Caregiving and its impact on families of the terminally ill

Changes in the health care system have meant that increasing numbers of the terminally ill receive the majority of their care at home. The purpose of this paper was to document patterns of informal and formal care provided to the terminally ill and assess the impact caregiving has on family members. One hundred and fifty-one family caregivers were recruited for interviews from two community-nursing agencies in an urban region of the province of Ontario, Canada. The majority of respondents 119 (79%) were the female spouses of the patient. The numbers of caregivers providing assistance in specific functional activities were: bathing, 133 (88%); mobility, 123 (81%); dressing and undressing, 114 (76%); toileting, 101 (67%), and assistance at night 97 (64%). Sixty-two (41%) respondents reported that they had been providing some form of caregiving for over one year. They also reported that physical demands in caregiving increased substantially during the last three months of the care recipient's life. As family caregivers provided more assistance in activities of daily living they were at greater risk of reporting high caregiver burden. The results of this paper identify the types of care provided by family caregivers of the terminally ill and the impact these demands have on the family caregiver.

Identifying educational needs in end-of-life care for staff and families of residents in care facilities.

AIM: the purpose of this article is to describe educational needs in end-of-life (EoL) care for staff and families of residents in long-term care (LTC) facilities in the province of Ontario, Canada. Barriers to providing end-of-life care education in LTC facilities are also identified. DESIGN, SETTING AND PARTICIPANTS: cross-sectional survey of directors of care in all licensed LTC facilities in the province of Ontario, Canada. RESULTS: directors of care from 426 (76.9% response rate) licensed LTC facilities completed a postal-survey questionnaire. Topics identified as very important for staff education included pain and symptom management and communication with family members about EoL care. Priorities for family education included respecting the residents' expressed wishes for care and communication about EoL care. Having sufficient institutional resources was identified as a major barrier to providing continuing education to both staff and families. CONCLUSION: through examining educational needs in EoL care this study identified an environment of inadequate staffing and over-burdened care providers. The importance of increased staffing concomitant with education is a priority for LTC facilities.

A Family Booklet About Comfort Care in Advanced Dementia:Three-Country Evaluation

Objectives: To evaluate a booklet on comfort care in dementia from the perspective of family with relevant experience, and assess nursing home resident and family factors associated with evaluations. Design: Retrospective study. Setting: Long term care facilities in French-speaking Canada, and the Netherlands and Italy.
Participants: Bereaved family (n = 138).
Measurements: An 8-item scale assessed the booklet's acceptability. Usefulness was rated on a 0 to 10 scale, and perceived usefulness referred to usefulness if family had had the booklet during the resident's stay. Families indicated preferred ways of obtaining, and the most appropriate time to get the booklet.
Results: Almost all families (94%) perceived the booklet as useful. Canadian and Dutch families evaluated the booklet's contents and format favorably, whereas Italian families' evaluations were less favorable. Almost all families endorsed roles for physicians or nurses and about half additionally accepted availability through own initiative, in print or through the Internet. Preference of timing was highly variable. Better acceptability, usefulness, and availability through own initiative were independently associated with non-Italian nationality, presence of more physical signs discussed in the booklet, feeling ill-prepared, and higher satisfaction with care. A preference of receiving the booklet early was more likely in Italian families, those without university education, and those involved with older residents.
Conclusion: The booklet is suitable to inform Dutch and Canadian families on comfort care in dementia, but implementation in Italy requires further consideration. The booklet may be integrated in advance care planning in long term care, and made available outside long term care settings to serve families who wish to be informed early. © 2012 American Medical Directors Association, Inc.
Keywords: Decision aid; decision making; advance care planning; palliative care; nursing homes; dementia.

The influence of health education on family management of childhood asthma

The purpose of this study was to examine differences in asthma management among families with a child who has moderate to severe asthma. Half of the 50 families chosen for study had participated in an intensive in-patient asthma treatment program and half had participated in an out-patient day camp. Two broad categories of outcome were examined - illness and self-management skills. Families who participated in the in-patient program exhibited a pattern of illness behaviours which indicated asthma symptoms were better managed in comparison to those families that participated in the out-patient program. It was also observed that children who participated in the in-patient program had a tendency to feel more positive about having asthma with the more self-management behaviours they practised. On the other hand, children from the out-patient program reported a more negative attitude about having asthma with the more self-management behaviours they practised.

Educating families about end-of-life care in advanced dementia:Acceptability of a Canadian family booklet to nurses from Canada, France, and Japan

Background: The families of people with late-stage dementia need to be informed about the course of the dementia and the comfort/ palliative care option. A booklet was written for that purpose and can be provided to family members by physicians and nurses. Methods: The acceptability of the booklet for nurses was tested in Canada (French and English version), France (French Canadian version) and Japan (translated and adapted version). Results: Overall, 188 nurses completed a survey questionnaire. The booklet was accepted best in Canada and less so in France and Japan. Despite regional variation, the majority of the nurses perceived the booklet as useful for families. The French and Japanese nurses also reported a greater need for palliative care education in advanced dementia. Conclusion: The booklet may help nurses educate families about end-of-life issues in dementia palliative care, but local adaptation of the booklet content and physician engagement are necessary.

Demographic and psychosocial characteristics of asthmatic children in a Canadian rehabilitation setting

This study investigated the demographic and psychosocial characteristics of patients attending a residential treatment program for children with asthma. Measures of background information and standardized psychosocial variables were administered to 54 inpatients over an 18-month period. Typically, our patients presented with moderate to severe chronic asthma, mostly diagnosed before 3 years of age and often associated with atopic dermatitis. The families exhibited normal levels of emotional bonding and flexibility in response to stress. Psychosocially, most children were experiencing behavioral and school-related problems, with 6-11-year-old boys exhibiting global social competency problems as well. Girls exhibited lower self-esteem. Locus of control was within the normal range for all age groups. Half the children had not previously attended an asthma education program and two-thirds of the family members either smoked and/or had a pet. The treatment implications of these characteristics of our asthma population were considered.

A Randomized Controlled Trial of Interventions to Promote Adjustment in Children With Congenital Heart Disease Entering School and Their Families

Objective: To report on a randomized controlled trial of psychological interventions to promote adjustment in children with congenital heart disease and their families.
Method: Following baseline assessment, 90 children (aged 4–5 years) and their families were randomly assigned to an Intervention or Control group before entering school. 68 (76%) were retained at 10-month follow-up.
Results: Gains were observed on measures of maternal mental health and family functioning. Although no differences were found on measures of child behavior at home or school, children in the intervention group were perceived as “sick” less often by their mother and missed fewer days from school. A regression model, using baseline measures as predictors, highlighted the importance of maternal mental health, worry and child neurodevelopmental functioning for child behavioral outcomes almost a year later.
Conclusions: The intervention promoted clinically significant gains for the child and family. The program is of generalizable significance.

Home-based support for palliative care families:challenges and recommendations

Providing adequate supportive services for the families of palliative care patients is a core principle of palliative care. Caring for a patient with terminal illness at home involves a considerable commitment on the part of family caregivers, and attention must be given to the caregiver's needs as well as those of the patient. Although a home death may be preferred by patients and promoted by healthcare agencies as a cost-effective option, it may be an ideal that is not often realised. Enhanced supportive care strategies can ameliorate the challenges facing families of palliative care patients cared for at home. All health professionals need to improve the standard of family-centred palliative care, and more evidence-based approaches are required.