Psychosocial Impact of Living with a Stuttering Disorder: Knowing Is Not Enough

Stuttering requires a multidimensional perspective given that, in recent years, researchers have shown the impact of the disorder to reach far beyond the surface components with demonstrated psychosocial and anxiety effects for the individual living with a stutter. This article explores the impact a stuttering disorder has on the individual (child, adolescent, and adult) and on their family members (siblings, parents, and partners). These experiences include behavioral and social difficulties, self-awareness, reactions to stuttering, communication difficulties in daily situations, and overall quality of life. The influence of stuttering on the most intimate relationships of the person who stutters is presented. An overview of stuttering across the life span is discussed in terms of stuttering in children and adolescents, and the significant levels of adverse impact as a result of living with a stutter are described. In addition, the impact that the stuttering disorder has on the parents and siblings of children who stutter is also detailed through significant findings pertaining to lack of attachment and trust between the young people and their parents. The responsibilities and demands on parents and siblings in the family context are highlighted. Focus is also placed on the experience of living with a person who stutters from the perspective of their life partner. Perceived quality of life is explored with unexpected differences recounted between the quality of life experienced by the adult who stutters and their partner’s perceptions of this disorder. Finally, the potential for a novel Acceptance and Commitment Therapy for individuals who stutter is presented

Anxiety and speaking in people who stutter: An investigation using the emotional Stroop task

People with anxiety disorders show an attentional bias towards threat or negative emotion words. This exploratory study examined whether people who stutter (PWS), who can be anxious when speaking, show similar bias and whether reactions to threat words also influence speech motor planning and execution. Comparisons were made between 31 PWS and 31 fluent controls in a modified emotional Stroop task where, depending on a visual cue, participants named the colour of threat and neutral words at either a normal or fast articulation rate. In a manual version of the same task participants pressed the corresponding colour button with either a long or short duration. PWS but not controls were slower to respond to threat words than neutral words, however, this emotionality effect was only evident for verbal responding. Emotionality did not interact with speech rate, but the size of the emotionality effect among PWS did correlate with frequency of stuttering. Results suggest PWS show an attentional bias to threat words similar to that found in people with anxiety disorder. In addition, this bias appears to be contingent on engaging the speech pro-duction system as a response modality. No evidence was found to indicate that emotional reactivity during the Stroop task constrains or destabilises, perhaps via arousal mechanisms, speech motor adjustment or execution for PWS

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

The experiences of living with a stuttering disorder across the lifespan : psychosocial impact and acceptance and commitment therapy

In recent stuttering disorders research, increasing importance has been placed on viewing the disorder from a multidimensional perspective. Researchers have shown how the impact of the disorder reaches far beyond the surface speech components. There have been demonstrated psychosocial and anxiety effects for the person living with a stutter which underpins the value of taking a more comprehensive view of this complex problem. Concurrently, there has been research in allied speech and language areas addressing the impact of communication difficulties not only on the person themselves but on family members with whom they share daily life.The primary aim of this thesis was to explore the experiences of living with a stuttering disorder across the lifespan. The aim was to do this by investigating the impact of the disorder on the individual (child, adolescent and adult), and on their family members (siblings, parents and partners). The context of the thesis presents this impact on a number of different planes including behavioural and social difficulties, self-awareness of stuttering, reactions to stuttering, communication difficulties in daily situations, and overall quality of life. The impact on the relationships the person who stutters shares with intimate others is also disclosed.An overview of stuttering across the lifespan in the first two papers is discussed in terms of the impact of a stuttering disorder on children and adolescents living in Western Australia. A comparison is drawn between the reactions and experiences of individuals who stutter to those of people who do not stutter. Significant levels of adverse impact as a result of living with a stutter are described.The next two papers in the thesis present the impact of the stuttering disorder on the parents and siblings of children who stutter. These papers describe the relationship between siblings, the impact on the fluent sibling and the impact on the parent-child relationship. Significant findings pertaining to lack of attachment and trust between the young people and their parents emerged. The responsibilities and demands on parents and siblings in the family context are highlighted.The focus of the fifth paper is the experience of living with a person who stutters from the perspective of their life partner. This paper explores perceived quality of life with unexpected differences unfolding between the quality of life experienced by the adult who stutters and their partner's perceptions of this experience. Apprehensions and demands around emotional support, social interactions, communication dependencies and therapy support are described.In the context of the overall findings from the preceding five lifespan impact papers, the sixth paper proposes an overview of a holistic Acceptance and Commitment Therapy (ACT) for the treatment of stuttering disorders in adults. The positioning of ACT as a novel and valid treatment for stuttering disorders is discussed and the unique platform from which the potential for this treatment to produce fluency gains and psychosocial outcome improvements is described. Finally, the seventh paper investigates the effectiveness of an ACT group intervention program for adults who stutter. Significant results and clinical research support are presented in terms of improvements in psychosocial functioning, readiness for therapy and change, utilisation of mindfulness skills and psychological flexibility, and improved frequency of stuttering as a result of this preliminary ACT treatment programme.This thesis documents the impact of stuttering and proposes an original approach to the resolution of impact through intervention for the demonstrated psychosocial concerns of the individual and their immediate family members

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

The experiences of living with a sibling who stutters: A preliminary study

Stuttering impacts on the child in a variety of ways, notably in terms of communicative impairment and psychosocial impact. In addition, the stuttering disorder has a holistic impact, affecting those with whom the child who stutters lives. Within the family constellation, the closest person to the individual who stutters is often their sibling. This study investigated the experiences of fluent siblings of children who stutter to examine the impact that stuttering may have on their lives. A mixed methods research design incorporated qualitative semi-structured interviews and quantitative questionnaires. The results of the qualitative investigation revealed four aspects of children’s lives that were affected by having a sibling who stuttered: the relationship between siblings, the impact on the fluent sibling, the impact on the parent relationship with both children, and the impact on the sibling’s relationship with others. Findings revealed that siblings of children who stutter exhibited strongly negative emotions, and differing levels of responsibility associated with their involvement in the actual stuttering management programme. Furthermore, for the fluent sibling, secondary to having a brother or sister who stuttered, communication with and attention from their parents was variable. The results of the quantitative component of the study revealed children who stutter and their siblings demonstrated significantly greater closeness, and concurrently, increased conflict and status disparity than did the control fluent sibling dyads. The parents of the experimental sibling dyads also demonstrated significantly greater partiality towards a child, namely the child who stuttered, than did the parents of the control sibling dyads

Speeded verbal responding in adults who stutter: Are there deficits in linguistic encoding?

Linguistic encoding deficits in people who stutter (PWS, n = 18) were investigated using auditory priming during picture naming and word vs. non-word comparisons during choice and simple verbal reaction time (RT) tasks. During picture naming, PWS did not differ significantly from normally fluent speakers (n = 18) in the magnitude of inhibition of RT from semantically related primes and the magnitude of facilitation from phonologically related primes. PWS also did not differ from controls in the degree to which words were faster than non-words during choice RT, although PWS were slower overall than controls. Simple RT showed no difference between groups, or between words and non-words, suggesting differences in speech initiation time do not explain the choice RT results. The findings are consistent with PWS not being deficient in the time course of lexical activation and selection, phonological encoding, and phonetic encoding. Potential deficits underlying slow choice RTs outside of linguistic encoding are discussed. Educational objectives: The reader will be able to (1) describe possible relationships between linguistic encoding processes and speech motor control difficulties in people who stutter; (2) explain the role of lexical priming tasks during speech production in evaluating the efficiency of linguistic encoding; (3) describe the different levels of processing that may be involved in slow verbal responding by people who stutter, and identify which levels could be involved based on the findings of the present stud