The impact of a stuttering disorder on Western Australian children and adolescents

In this study, we examined the impact of a stuttering disorder on children (n=50) and adolescents (n=45) living in Western Australia. We compared the reactions and experiences of children and adolescents who stutter to children and adolescents who do not stutter. We compared the participants who stuttered and the fluent participants using adapted versions of the Overall Assessment of the Speaker’s Experience of Stuttering (OASES). We also examined the relationship between biopsychosocial impact and stuttered speech frequency. We saw higher levels of adverse impact in young people who stuttered compared to their fluent peers. In addition, we found moderate correlations between OASES scores and stuttered speech frequency in children. These findings provided a baseline for establishing the degree of negative impact that a stuttering disorder may bring about in children and adolescents. The experiences of young people who stuttered were significantly different from the experiences of young people who were typically fluent. These findings reinforce the notion that stuttering is a disorder that can lead to negative impact for young people

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Acceptance and Commitment Therapy for People Who Stutter

In contemporary clinical allied health and medical settings, there has been a proliferation of Acceptance and Commitment Therapy (ACT) programs. These clinically effective programs have reduced comorbid anxiety, depression, and stress for individuals suffering from chronic medical and psychosocial issues. However, to date, there has been no published work examining the effectiveness of an integrated ACT program for individuals who stutter. In this review, we will provide a platform from which readers will be able to (a) appraise the literature regarding combined speech pathology and psychology therapeutic programs for people who stutter, (b) appreciate an overview of ACT in the context of stuttering disorders, and (c) understand the relevant psychosocial outcome measures that constitute therapeutic change. This unique review of ACT will distinguish the processes of self-concept, defusion, acceptance, mindfulness, values, and committed action in support for people who stutter who experience psychosocial distress. In the culmination of the review, we advance the integration of ACT into current treatments for individuals who stutter

Acceptance and commitment therapy for adults who stutter: Psychosocial adjustment and speech fluency

The aim of the present study was to assess the effectiveness of an Acceptance and Commitment Therapy group intervention program for adults who stutter (N = 20). The program consisted of 2-h therapeutic sessions conducted weekly for eight consecutive weeks. It was an integrated program designed to improve: (a) psychosocial functioning, (b) readiness for therapy and change, (c) utilisation of mindfulness skills and psychological flexibility, and (d) frequency of stuttering. The findings provide innovative evidence for Acceptance and Commitment Therapy as an effective intervention with statistically significant improvements in psychosocial functioning, preparation for change and therapy, utilisation of mindfulness skills, and overall speech fluency. Follow-up data collected at three months post-treatment revealed that therapeutic gains were successfully maintained over time. These findings enhance the understanding of the impact of stuttering on psychological wellbeing and offer a new perspective on what might constitute successful stuttering treatment. Further, clinical research support is provided for Acceptance and Commitment Therapy delivered in a group format as a promising and novel intervention for adults who stutter. Educational objectives: The reader will be able to: (a) appreciate the potential for Acceptance and Commitment Therapy for adults who stutter; (b) identify the improvements participants experienced in psychosocial functioning and frequency of stuttered speech; (c) appreciate the six core processes of Acceptance and Commitment Therapy; and (d) appreciate the differences between an ACT model of intervention for adults who stutter compared to a CBT approach

Virtual patient clinical placements improve student communication competence

© 2018, © 2018 Informa UK Limited, trading as Taylor & Francis Group. Effective communication is a generic competency essential to clinical practice. However, access to work-integrated placements where such competencies are traditionally developed is diminishing, compelling universities to develop supplementary placement opportunities in the form of simulated learning environments (SLE). Virtual or digital patient (VP) placements are an attractive SLE model, but evidence of their efficacy for developing student communication competence is limited. In the current study, 82 second-year undergraduate speech pathology students completed one half-day placement, requiring them to use conversation interaction skills to build rapport with a VP across two 10-minute interactions, separated by clinical educator (CE) feedback and self-reflection. Each student’s interactions were rated by CEs on 25 communication competencies and, following the second interaction, students completed retrospective pre-placement and post-placement self-ratings of their communication skills, knowledge and confidence. CEs’ ratings of students’ performance were significantly higher following the second interaction than they were following the first (median h2p =.710). Furthermore, the students’ post-placement self-ratings were significantly higher than their retrospective pre-placement ratings (median dav = 1.25). These findings suggest that VP placements as simulated clinical learning opportunities support speech pathology education, and may have positive implications for all health professions

Patient-focused goal planning process and outcome after spinal cord injury rehabilitation: Quantitative and qualitative audit.

Objective: To evaluate the process and outcome of a multidisciplinary inpatient goal planning rehabilitation programme on physical, social and psychological functioning for patients with spinal cord injury. Design: Clinical audit: quantitative and qualitative analyses. Setting: Specialist spinal injury unit, Perth, Australia. Subjects: Consecutive series of 100 newly injured spinal cord injury inpatients. Main measure(s): The Needs Assessment Checklist (NAC), patient-focused goal planning questionnaire and goal planning progress form. Results: The clinical audit of 100 spinal cord injured patients revealed that 547 goal planning meetings were held with 8531 goals stipulated in total. Seventy-five per cent of the goals set at the first goal planning meeting were achieved by the second meeting and the rate of goal achievements at subsequent goal planning meetings dropped to 56%. Based on quantitative analysis of physical, social and psychological functioning, the 100 spinal cord injury patients improved significantly from baseline to discharge. Furthermore, qualitative analysis revealed benefits consistently reported by spinal cord injury patients of the goal planning rehabilitation programme in improvements to their physical, social and psychological adjustment to injury. Conclusions: The findings of this clinical audit underpin the need for patient-focused goal planning rehabilitation programmes which are tailored to the individual’s needs and involve a comprehensive multidisciplinary team

Fear of negative evaluation, trait anxiety, and judgment bias in adults who stutter

Purpose: Persons who stutter (PWS) and those with social anxiety disorder may exhibit fear of negative evaluation (FNE) and anxiety in social situations. However, the information processing biases that perpetuate these characteristics have had limited investigation. This study investigated judgment bias in social situations. Method: Participants included 50 adults who stutter and 45 age- and gender-matched fluent persons who do not stutter (PWNS), who made up the control group. Participants completed the Interpretation and Judgmental Questionnaire (Voncken, Bögels, & deVries, 2003), and threat scores were calculated. Results: There were no significant differences between PWS and PWNS in social threat or nonsocial threat scores. When the PWS group was divided on the basis of FNE and compared with PWNS participants without heightened anxiety (n = 35), the PWS with high FNE had significantly higher total social threat scores than the PWS with low FNE. The three groups did not differ in threat ratings for ambiguous or profoundly negative social situations. Conclusions: Judgment bias in PWS is mediated by the magnitude of FNE present; not all PWS exhibit judgment bias for social situations. Treatment implications include the need for psychosocial support addressing the negative impacts on quality of life and restrictions on social engagement that stuttering may cause in some individuals