A survey study of family members' encounters with healthcare services within the care of older people, psychiatric care, palliative care and diabetes care.

The aim of this study was to describe and compare family members' experiences of approach in encounters with healthcare professionals and possible feelings of alienation in the professional care within four care contexts: the care of older people, psychiatric care, palliative care and diabetes care. The design was an explorative cross-sectional survey study. Data were collected in Sweden using the Family Involvement and Alienation Questionnaire-Revised (FIAQ-R). It measures family members' experiences of the healthcare professionals' approach and the family members' feeling of alienation from the provision of professional care. A total of 1047 questionnaires were distributed to family members using convenient sampling method, of which 294 were included. Data were analysed using rank-based, non-parametric statistical methods. The results indicated that most respondents experienced a positive actual approach from the healthcare professionals. Many participants rated the importance of approach at a higher level than their actual experience. Participants in the context of diabetes care reported a more negative actual approach from the healthcare professionals than did participants in the other contexts and considered the healthcare professionals' approach towards them as being less important. The results for the entire group indicated that the participants felt a low level of alienation from the professional care. Participants in the context of the care of older people reported significantly lower level of feeling of being alienated than did participants in the contexts of psychiatric care and diabetes care. The differences between participants in diabetes care and other care contexts can possibly be explained by a more fully implemented self-care approach among the patients in diabetes care than in the other care contexts. Even though the results are quite positive, it is still important that nurses consider a family-centred approach to better adapt to the needs of both the family members and the patients.

Sense of Coherence in partners to persons with Huntington's disease.

OBJECTIVES: Huntington's disease (HD) is a progressive neuropsychiatric disease characterized by involuntary movements and behavioural symptoms. This study aimed to explore the association between the level of Sense of Coherence (SOC) and health problems, and psychological distress factors in partners to HD affected persons and their need of support. MATERIALS & METHODS: A cross-sectional, descriptive, correlational design was used. Data was generated from 94 HD partners from almost all networks, outpatient clinics and nursing homes specialized in HD across Sweden. HD partners filled out questionnaires with scales measuring SOC, health problems, psychological distress factors and the Total Functional Capacity Scale (TFC). Non-parametric analysis was used to analyse group differences. RESULTS: Huntington's disease partners with a lower level of SOC experienced more health problems than those with a higher level. Health problems among HD partners were most common among HD affected in TFC stage 3, indicating that the partners need most support during this period. Lower level of SOC was associated with loneliness in the relationship; less possibilities to socialize with friends; worries about the future as well as being subjected to physical aggression. The experience of physical aggression from the HD affected person was common (44.7%) and 28.6% of the partners expressed worries about being subjected to physical aggression. CONCLUSION: Our findings suggest that knowledge about the partners' SOC score may be a helpful indicator identifying HD partners who are more vulnerable and need additional help caring for the person with HD and can be a complementary tool in assessment protocols.

New information of dopaminergic agents based on quantum chemistry calculations.

Dopamine is an important neurotransmitter that plays a key role in a wide range of both locomotive and cognitive functions in humans. Disturbances on the dopaminergic system cause, among others, psychosis, Parkinson's disease and Huntington's disease. Antipsychotics are drugs that interact primarily with the dopamine receptors and are thus important for the control of psychosis and related disorders. These drugs function as agonists or antagonists and are classified as such in the literature. However, there is still much to learn about the underlying mechanism of action of these drugs. The goal of this investigation is to analyze the intrinsic chemical reactivity, more specifically, the electron donor-acceptor capacity of 217 molecules used as dopaminergic substances, particularly focusing on drugs used to treat psychosis. We analyzed 86 molecules categorized as agonists and 131 molecules classified as antagonists, applying Density Functional Theory calculations. Results show that most of the agonists are electron donors, as is dopamine, whereas most of the antagonists are electron acceptors. Therefore, a new characterization based on the electron transfer capacity is proposed in this study. This new classification can guide the clinical decision-making process based on the physiopathological knowledge of the dopaminergic diseases.

Adaptation and evaluation of the Family Involvement and Alienation Questionnaire for use in the care of older people, psychiatric care, palliative care and diabetes care.

AIM: To adapt the Family Involvement and Alienation Questionnaire (FIAQ) for use in the care of older people, psychiatric care, palliative care and diabetes care and to evaluate its validity and reliability. BACKGROUND: Involvement in the professional care has proven to be important for family members. However, they have described feelings of alienation in relation to how they experienced the professionals' approach. To explore this issue, a broad instrument that can be used in different care contexts is needed. DESIGN: A psychometric evaluation study, with a cross-sectional design. METHOD: The content validity of the FIAQ was evaluated during 2014 by cognitive interviews with 15 family members to adults in different care contexts. Psychometric evaluation was then conducted (2015-2016). A sample of 325 family members participated, 103 of whom in a test-retest evaluation. Both parametric and non-parametric methods were used. RESULTS: The content validity revealed that the questionnaire was generally understood and considered to be relevant and retrievable by family members in the contexts of the care of older people, psychiatric care, palliative care and diabetes care. Furthermore, the FIAQ (Revised), demonstrated satisfactory psychometric properties in terms of data quality, homogeneity, unidimensionality (factor structure), internal consistency and test-retest reliability. CONCLUSION: The study provides evidence that the FIAQ (Revised) is reliable and valid for use in further research and in quality assessment in the contexts of the care of older people, psychiatric care, palliative care and diabetes care.

What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington's Disease.

Little is known about how people's lives are influenced when going from a 50% risk status of Huntington's disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals' significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psychological well-being were also described. Some had experienced psychological pressure of needing to do something extraordinary in their lives; others expressed feelings of guilt towards affected or untested siblings, resulting in sadness or clinical depression. The new genetic risk status could generate a need of re-orientation, a process that for some persons took several years to accomplish. The results of the present study show the importance of offering long-term post-result counselling for non-carriers in order to deal with the psychological consequences that may follow predictive testing.

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.

A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected subjects had chorea which was initially attributed to Huntington's disease (HD). Following the exclusion of HD, this phenotype was labeled Huntington disease-like 1 (HDL1). Here, we provide an update on the Swedish 8-OPRI family, describe the clinical features of one of its affected members with video-recordings, compare the four 8-OPRI families and study the effect of PRNP polymorphic codon 129 and gender on phenotype. Surprisingly, the Swedish kindred displayed the longest survival of all of the 8-OPRI families with a mean of 15.1 years from onset of symptoms. Subjects with PRNP polymorphic codon 129M in the mutated allele had significantly earlier age of onset, longer survival and earlier age of death than 129V subjects. Homozygous 129MM had earlier age of onset than 129VV. Females had a significantly earlier age of onset and earlier age of death than males. Up to 50% of variability in age of onset was conferred by the combined effect of PRNP polymorphic codon 129 and gender. An inverse correlation between early age of onset and long survival was found for this mutation.

More appreciation of life or regretting the test? Experiences of living as a mutation carrier of Huntington's disease.

Little is known about how the knowledge of being a mutation carrier for Huntington's disease (HD) influences lives, emotionally and socially. In this qualitative study 10 interviews were conducted to explore the long term (>5 years) experiences of being a mutation carrier. The results showed a broad variety of both positive and negative impact on the carriers' lives. The most prominent positive changes reported were a greater appreciation of life and a tendency to bring the family closer together. On the other hand, some participants expressed decisional regrets and discussed the negative impact this knowledge had on their psychological well-being. The knowledge variously served as either a motivator or an obstacle in pursuing further education, career or investment in personal health. Deeper understanding of people's reactions to the certainty of knowing they will become affected with HD is essential for the genetic counseling team in order to provide appropriate support.