Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Purpose: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%). Conclusion: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design

Interpersonal Problems and Experiential Avoidance in Mental Health Carers

Mental health carers frequently report interpersonal difficulties in relation to the person for whom they are caring, however, there is limited research specific to their relational experiences. This thesis involves a series of studies which investigate the nature of mental health carers’ interpersonal problems, the role of other psychological processes in interpersonal distress, and interventions to improve interpersonal functioning in carers

Interpersonal problems amongst mental health carers: a qualitative study

2018 Taylor & Francis Mental health carers are affected by the relationship with the person for whom they provide care, and these interpersonal aspects of caregiving have received limited attention. This article explores mental health carer\u27s experiences of interpersonal problems within their caring relationship. Qualitative methodology was used, with semi-structured interviews based on biographical narrative and Core Conflictual Relationship Theme framework. Participants were 28 adult carers of people with mental health problems. Thematic analysis identified the following themes: emotion management, aggression, avoidance, responsibility, control, communication, and role challenges. Findings indicate mental health caregivers experience a myriad of interpersonal problems and raise implications for policy and clinical practice

Pilot of an acceptance and commitment therapy and schema group intervention for mental health carer\u27s interpersonal problems

The term ‘mental health carer’ refers to any person who voluntarily provides ongoing care and assistance to another person because of mental health issues (Carers Recognition Act, 2010)

Types and severity of interpersonal problems in Australian mental health carers

2020, 2020 Informa UK Limited, trading as Taylor & Francis Group. Mental health carers frequently report interpersonal difficulties in their caring relationship. This exploratory study aims to examine the interpersonal problems of mental health carers from the perspective of the interpersonal circumplex. A cross-sectional survey design was utilised with 147 participants. Mental health carers displayed higher mean interpersonal problems than a community sample, and descriptive proportions indicated 17.7% experienced interpersonal problems of significant difficulty. Shorter-term carers obtained higher scores on the Overly Accommodating domain, longer-term carers scored higher on the Vindictive/Self-centred domain. The care-receivers\u27 mental health diagnosis was not associated with domains of interpersonal problems. Severity of mental health was associated with lower scores on the Overly Accommodating domain. There were no differences between being a parent or spouse carer. Results highlight the importance of understanding mental health carers\u27 interpersonal profiles in order to guide treatment planning