Focusing on Patient Needs and Preferences May Improve Genetic Counseling for Colorectal Cancer

During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists regarding the needs and preferences of counselees. In this study needs and preferences were assessed from counselees with a personal and/or family history of colorectal cancer (CRC), who were referred for genetic counseling regarding CRC. They received a slightly modified version of the QUOTE-GENE^ca questionnaire prior to their first visit to the Hereditary Cancer Clinic. Response rate was 60 % (48/80 participants). Counselees rated the importance of 45 items assessing their needs and preferences regarding the content and process of genetic counseling. Participants rated the items regarding discussion of information about their familial CRC risk (100 %) and preventive options (98 %) as important or very important. Fewer participants rated items concerning general information on genetics as important. Sensitive communication during counseling was considered very important by a large percentage of counselees. Generally, no major differences were seen between participants in relation to individual characteristics. Our data suggest that focusing on familial CRC risk and surveillance options, in combination with sensitive communication may lead to better satisfaction with genetic counseling.     

Genetic studies of stuttering in a founder population

Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions with nominal evidence for linkage were found on chromosomes 3 (P=0.013, 208.8 centiMorgans (cM)), 13 (P=0.012, 52.6 cM), and 15 (P=0.02, 100 cM). Regions with nominal evidence for association with stuttering that overlapped with a linkage signal are located on chromosomes 3 (P=0.0047, 195 cM), 9 (P=0.0067, 46.5 cM), and 13 (P=0.0055, 52.6 cM). We also conducted the first meta-analysis for stuttering using results from linkage studies in the Hutterites and The Illinois International Genetics of Stuttering Project and identified regions with nominal evidence for linkage on chromosomes 2 (P=0.013, 180-195 cM) and 5 (P=0.0051, 105-120 cM; P=0.015, 120-135 cM). None of the linkage signals detected in the Hutterite sample alone, or in the meta-analysis, meet genome-wide criteria for significance, although some of the stronger signals overlap linkage mapping signals previously reported for other speech and language disorders. EDUCATIONAL OBJECTIVES: After reading this article, the reader will be able to: (1) summarize information about the background of common disorders and methodology of genetic studies; (2) evaluate the role of genetics in stuttering; (3) discuss the value of using founder populations in genetic studies; (4) articulate the importance of combining several studies in a meta-analysis; (5) discuss the overlap of genetic signals identified in stuttering with other speech and language disorders.     

Emotional dysfunction in avoidant compared to borderline personality disorder: A study of affect consciousness

Knowledge of emotional dysfunction in patients with avoidant personality disorder (APD) is much needed. The present study examined affect consciousness (AC) in patients with APD compared to borderline personality disorder (BPD). AC, defined as capacity to perceive, reflect on, tolerate, and express emotional experiences, is assumed to be central to structure‐building in personality. The study tested the hypotheses that patients with APD have lower general AC and lower AC for pleasant affects compared to BPD. Fifty‐nine patients, 26 with APD and 33 with BPD were rated on several aspects of AC using the specialized AC interview. The structured interview SCID‐II was applied for diagnostic evaluations. The APD group had significantly lower levels of global AC and conceptual expressivity compared to the BPD group. Among 11 specific affects the APD group had significantly lower AC for interest and contempt. Emotional dysfunction is an important feature of APD and the findings indicate that psychotherapies for APD patients should focus on emotional experiences, aiming to improve emotional awareness, tolerance, and expressivity. The notion of a general avoidance of positive emotions in APD needs further exploration, including a possible dysfunction in the evolutionary based neuro‐affective Seeking system.     

Influences of rate, length, and complexity on speech disfluency in a single-speech sample in preschool children who stutter

The purpose of the present study was (1) to determine whether speech rate, utterance length, and grammatical complexity (number of clauses and clausal constituents per utterance) influenced stuttering-like disfluencies as children became more disfluent at the end of a 1200-syllable speech sample [Sawyer, J., & Yairi, E. (2006). The effect of sample size on the assessment of stuttering severity. American Journal of Speech-Language Pathology, 15, 36-44] and (2) to explore the interaction of speech rate, length, and grammatical complexity at the beginning (syllables 1-300, Section A) and the end (syllables 901-1200, Section B) of the speech sample. Participants were eight boys and six girls (M=40.9 months) who were selected from the Sawyer and Yairi [Sawyer, J., & Yairi, E. (2006). The effect of sample size on the assessment of stuttering severity. American Journal of Speech-Language Pathology, 15, 36-44] study. Mean length of utterance (MLU) in morphemes, the number of clauses, clausal constituents, and articulation rate, measured in syllables per second were analyzed from the children's conversational speech. The median split procedure [Logan, K., & Conture, E. (1995). Length, grammatical complexity, and rate differences in stuttered and fluent conversational utterances of children who stutter. Journal of Fluency Disorders, 20, 35-61; Yaruss, J. S. (1997). Utterance timing and childhood stuttering. Journal of Fluency Disorders, 22, 263-286] was used to study interactions between articulation rate, utterance length, and grammatical complexity across the two sections. The mean number of clauses per utterance, clausal constituents per utterance, and articulation rate revealed no significant differences between Section A and Section B, whereas MLU significantly increased in Section B (p=.013). Clausal constituents and MLU were significantly correlated both in Sections A and B. The median split procedure revealed trends for utterances characterized as high length and low-speech rate to be greater in number in Section B than A, but the differences were not significant. EDUCATIONAL OBJECTIVES: The reader will learn about and be able to: (a) describe the influence of grammatical complexity and mean length of utterance on disfluent speech; (b) compare different procedures for assessing speech rate and determine why the effects of articulation rate have been inconclusive; (c) discuss procedures for comparing length, rate, and complexity across a single-speech sample; and (d) explain why therapeutic methods that emphasize shorter utterance lengths, rather than only slower speech rates, are advisable in establishing fluency in preschool children who stutter.     

The development of awareness of stuttering in preschool children

The development of awareness of stuttering and of fluent speech in preschool children was examined by means of an instrument designed for this purpose. The measure employs a videotape of two identical puppets, one of whom stutters. Twenty stuttering children and twenty normally fluent children were followed for three visits over two years. The effects of group, age, and severity on the awareness score over the three visits were investigated. Results indicated statistical significance for experimental versus control groups, for older versus younger subgroups, and between the first and second, and first and third visits. Differences in stuttering severity were not associated with statistically significant differences in awareness scores. Theoretical and clinical implications are discussed.     

Differences in cognitive control in children and adolescents with combined and inattentive subtypes of ADHD

The aim of the present study was to investigate the ability of children with attention deficit/hyperactivity disorder-combined subtype (ADHD-C) and predominantly inattentive subtype (ADHD-PI) to direct their attention and to exert cognitive control in a forced attention dichotic listening (DL) task. Twenty-nine, medication-naive participants with ADHD-C, 42 with ADHD-PI, and 40 matched healthy controls (HC) between 9 and 16 years were assessed. In the DL task, two different auditory stimuli (syllables) are presented simultaneously, one in each ear. The participants are asked to report the syllable they hear on each trial with no instruction on focus of attention or to explicitly focus attention and to report either the right- or left-ear syllable. The DL procedure is presumed to reflect different cognitive processes: perception (nonforced condition/NF), attention (forced-right condition/FR), and cognitive control (forced-left condition/FL). As expected, all three groups had normal perception and attention. The children and adolescents with ADHD-PI showed a significant right-ear advantage also during the FL condition, while the children and adolescents in the ADHD-C group showed a no-ear advantage and the HC showed a significant left-ear advantage in the FL condition. This suggests that the ADHD subtypes differ in degree of cognitive control impairment. Our results may have implications for further conceptualization, diagnostics, and treatment of ADHD subtypes.     

The effect of emotional stress on involuntary and voluntary conscious memories

Clinical theories of post-traumatic stress disorder often claim that intrusive (involuntary) memories favour emotionally stressful material and that these memories come with more sensory imagery and emotional reliving compared to voluntary memories. However, these assumptions have not been verified experimentally. Here we obtained recordings of emotional reactions to aversive pictures at the time of encoding, as well as records of involuntary and voluntary memories of these pictures in a subsequent diary study. A comparison of individual ratings, obtained during encoding, of pictures recalled involuntarily and voluntarily showed that emotional stress at encoding increased overall accessibility, independent of whether recall was voluntary or involuntary. However at the time of recall, voluntary memories scored higher on narrative content and on measures of imagery. The findings are compatible with research on emotion and memory in general, but challenge clinical claims of differential involuntary versus voluntary access to emotionally stressful events.     

Functional brain activation differences in stuttering identified with a rapid fMRI sequence

The purpose of this study was to investigate whether brain activity related to the presence of stuttering can be identified with rapid functional MRI (fMRI) sequences that involved overt and covert speech processing tasks. The long-term goal is to develop sensitive fMRI approaches with developmentally appropriate tasks to identify deviant speech motor and auditory brain activity in children who stutter closer to the age at which recovery from stuttering is documented. Rapid sequences may be preferred for individuals or populations who do not tolerate long scanning sessions. In this report, we document the application of a picture naming and phoneme monitoring task in 3 min fMRI sequences with adults who stutter (AWS). If relevant brain differences are found in AWS with these approaches that conform to previous reports, then these approaches can be extended to younger populations. Pairwise contrasts of brain BOLD activity between AWS and normally fluent adults indicated the AWS showed higher BOLD activity in the right inferior frontal gyrus (IFG), right temporal lobe and sensorimotor cortices during picture naming and higher activity in the right IFG during phoneme monitoring. The right lateralized pattern of BOLD activity together with higher activity in sensorimotor cortices is consistent with previous reports, which indicates rapid fMRI sequences can be considered for investigating stuttering in younger participants.Educational objectives: The reader will learn about and be able to describe the: (1) use of functional MRI to study persistent developmental stuttering; (2) differences in brain activation between persons who stutter and normally fluent speakers; and (3) potential benefit of time efficient fMRI sequences combined with a range of speech processing tasks for investigating stuttering in younger populations.