Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".

The journey to receiving a diagnosis for rare genetic disease can be long and emotionally impactful. This study describes parental experiences of receiving their child's diagnosis of Rubinstein-Taybi syndrome (RTS), a rare genetic condition characterized by growth and developmental delay together with dysmorphic features. Parents from the RTS Australia support group participated in qualitative, semi-structured phone interviews, which were transcribed verbatim and thematically analyzed. Questions focused on psychosocial challenges and benefits pre and post-diagnosis. Ten mothers and three fathers participated, with the mean age of diagnosis being 8 months. Parents reported positive psychological effects from a slight delay in diagnosis, and negative effects from an extended diagnostic delay, suggesting the ideal time for a parent to receive a diagnosis lies in the post attachment stage, prior to the development of significant parental concerns. This stage would vary depending on condition severity. Parents desired a diagnosis to reduce uncertainty; however, uncertainty remained post diagnosis, and shifted its focus from broadly encompassing etiology and prognosis, to specifically focusing on concerns regarding severity within the spectrum. Perceived benefits of a diagnosis mainly centered on the provision of a label. Parents articulated that a label increased social acceptance, enhanced coping, promoted communication, and improved access to medical, financial, and support services. This study provides insights into the experience of families prior to and following receipt of a diagnosis. It also highlights the possibility of an optimal time window to receive a diagnosis; in which bonding is maximized and parental distress is minimized.

Beyond communication training: The MaRIS model for developing medical students' human capabilities and personal resilience.

Purpose: Human capabilities in medicine, including communication skills, are increasingly important within the complex, challenging and dynamic landscape of healthcare. Supporting medical students to manage unavoidable role-related stressors adaptively may help mitigate the anguish that is too commonly reported among the profession. We developed a model, "MaRIS", underpinned by contemplative pedagogy, to support medical students to enhance their human capabilities, across all three domains of Bloom's taxonomy, and their personal resilience. It is the first to integrate Mindfulness, affective Reflection, Impactive experiences and a Supportive environment into medical curriculum design. Here, we describe the theoretical basis underpinning MaRIS and present a preliminary study to evaluate its impact on students' subjectively-rated capabilities.Materials and Methods: A questionnaire capturing self-ratings of competence, empathy and resilience, as well as impressions of their experiences, was administered to foundation year medical students before (T0), during (T1) and after delivery (T2).Results: Fifty-five students completed the survey at all time points. Mean scores for all domains increased significantly from T0 to T1 and from T0 to T2. Free-text comments suggest learning impact across the cognitive, psychomotor and affective domains.Conclusions: MaRIS appears to facilitate medical students' establishment of the foundations for building the human capabilities and personal resilience required for professional practice.

Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition.

Little is known about the adaptive process and experiences of parents raising a child with an undiagnosed medical condition. The present study aims to assess how uncertainty, hope, social support, and coping efficacy contributes to adaptation among parents of children with an undiagnosed medical condition. Sixty-two parents of child affected by an undiagnosed medical condition for at least two years completed an electronically self-administered survey. Descriptive analysis suggested parents in this population had significantly lower adaptation scores when compared to other parents of children with undiagnosed medical conditions, and parents of children with a diagnosed intellectual and/or physical disability. Similarly, parents in this population had significantly lower hope, perceived social support and coping efficacy when compared to parents of children with a diagnosed medical condition. Multiple linear regression was used to identify relationships between independent variables and domains of adaptation. Positive stress response was negatively associated with emotional support (B = -0.045, p ≤ 0.05), and positively associated with coping efficacy (B = 0.009, p ≤ 0.05). Adaptive self-esteem was negatively associated with uncertainty towards one's social support (B = -0.248, p ≤ 0.05), and positively associated with coping efficacy (B = 0.007, p ≤ 0.05). Adaptive social integration was negatively associated with uncertainty towards one's social support (B-0.273, p ≤ 0.05), and positively associated with uncertainty towards child's health (B = 0.323, p ≤ 0.001), and affectionate support (B = 0.110, p ≤ 0.001). Finally, adaptive spiritual wellbeing was negatively associated with uncertainty towards one's family (B = -0.221, p ≤ 0.05). Findings from this study have highlighted the areas where parents believed additional support was required, and provided insight into factors that contribute to parental adaptation.

Are Australasian Genetic Counselors Interested in Private Practice at the Primary Care Level of Health Service?

This study explored the perceived interest in development of private genetic counseling services in collaboration with primary care physicians in the Australasian setting by online survey of members of the Australasian Society of Genetic Counselors. Four hypothetical private practice models of professional collaboration between genetic counselors and primary care physicians or clinical geneticists were proposed to gauge interest and enthusiasm of ASGC members for this type of professional development. Perceived barriers and facilitators were also evaluated. 78 completed responses were included for analysis. The majority of participants (84.6 %) showed a positive degree of interest and enthusiasm towards potential for clinical work in private practice. All proposed practice models yielded a positive degree of interest from participants. Model 4 (the only model of collaboration with a clinical geneticist rather than primary care physician) was the clearly preferred option (mean = 4.26/5), followed by Model 2 (collaboration with a single primary care practice) (mean = 4.09/5), Model 3 (collaboration with multiple primary care clinics, multidisciplinary clinic or specialty clinic) (mean = 3.77/5) and finally, Model 1 (mean = 3.61/5), which was the most independent model of practice. When participants ranked the options in the order of preference, Model 4 remained the most popular first preference (44.6 %), followed by model 2 (21.6 %), model 3 (18.9 %) and model 1 was again least popular (10.8 %). There was no significant statistical correlation between demographic characteristics (age bracket, years of work experience, current level of work autonomy) and participants' preference for private practice models. Support from clinical genetics colleagues and the professional society was highly rated as a facilitator and, conversely, lack of such support as a significant barrier.

Halting the spread of epidemic pseudomonas aeruginosa in an adult cystic fibrosis centre: a prospective cohort study.

OBJECTIVES: To assess if cohort segregation policies are effective in preventing cross-infection in cystic fibrosis (CF) clinics. DESIGN: A prospective cohort study. SETTING: A large adult CF centre in Northwest England. PARTICIPANTS: All CF patients cared for at the Liverpool adult CF centre 2003-2009. METHODS: Regular sputum sampling with genotyping of pseudomonas aeruginosa (Psa) isolates led to a policy of inpatient and outpatient segregation by microbiological group. MAIN OUTCOME MEASURES: Prevalence and cross-infection/super-infection rates of a transmissible Psa strain, i.e. the Liverpool epidemic strain (LES) in adult CF patients at the Liverpool adult CF centre from 2003 to 2009. RESULTS: There was a decline in the proportion of patients with LES (71-53%) and an increase in those with unique strains (23-31%) and without Psa infection (6-17%) from 2003 to 2009. There were two cases of LES super-infection and one case of new chronic Psa infection (with a unique strain). There were no cases of transmissible strain infection in patients previously uninfected by Psa. CONCLUSIONS: Our segregation policy has halted the spread of the commonest highly transmissible strain in the UK (LES) in our clinic, without endangering patients who were not previously infected with Psa. It confirms that if genotypic surveillance is used, it is unnecessary to segregate patients infected with unique strains from those without Psa infection.