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Experts frequently assess competency in criminal settings where the rate of feigning cognitive deficit is demonstrably elevated. We describe the construction and validation of the Denney Competency Related Test (D-CRT) to assess feigned incompetency of defendants in the criminal adjudicative setting. It was expected the D-CRT would prove effective at identifying feigned incompetence based on its two alternative, forced-choice and performance curve characteristics. Development and validation of the D-CRT occurred in described phases. Items were developed to measure competency based upon expert review. Item analysis and adjustments were completed with 304 young teenage volunteers to obtain a proper spread of item difficulty in preparation for eventual performance curve analysis (PCA). Test-retest reliability was assessed with 44 adult community volunteers. Validation included an analog simulation design with 101 jail detainees using MacArthur Competency Assessment Test-Criminal Adjudication and Word Memory Test as criterion measures. Effects of racial/ethnic demographic differences were examined in a separate study of 208 undergraduate volunteers. D-CRT specificity was identified with 46 elderly clinic referrals diagnosed with mild cognitive impairment and dementia. Item development, adjustment, and repeat analysis resulted in item probabilities evenly spread from.28 to 1.0. Test-retest correlation was good (.83). Internal consistency of items was excellent (KR-20 >.91). D-CRT demonstrated convergent validity in regard to measuring competency related information and as well as malingering. The test successfully differentiated between jail inmates asked to perforfm their best and inmates asked to simulate incompetency (AUC =.945). There were no statistically significant differences found in performance across racial/ethnic backgrounds. D-CRT specificity remained excellent among elderly clinic referrals with significant cognitive compromise at the recommended total score cutoff. D-CRT is an effective measure of feigned criminal incompetency in the context of potential cognitive deficiency, and PCA is assistive in the determination. Additional validation using knowns groups designs with various mental health-related conditions are needed. [ABSTRACT FROM AUTHOR]

The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic ammonia and the biosynthesis of arginine. Patients with ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease with hyperammonemia and a systemic phenotype coinciding with neurocognitive impairment and chronic liver disease. Here, we describe the dysregulation of glutathione biosynthesis and upstream cysteine utilization in ASL-deficient patients and mice using targeted metabolomics and in vivo positron emission tomography (PET) imaging using (S)-4-(3-18F-fluoropropyl)-l-glutamate ([18F]FSPG). Up-regulation of cysteine metabolism contrasted with glutathione depletion and down-regulated antioxidant pathways. To assess hepatic glutathione dysregulation and liver disease, we present [18F]FSPG PET as a noninvasive diagnostic tool to monitor therapeutic response in argininosuccinic aciduria. Human hASL mRNA encapsulated in lipid nanoparticles improved glutathione metabolism and chronic liver disease. In addition, hASL mRNA therapy corrected and rescued the neonatal and adult Asl-deficient mouse phenotypes, respectively, enhancing ureagenesis. These findings provide mechanistic insights in liver glutathione metabolism and support clinical translation of mRNA therapy for argininosuccinic aciduria. Editor's summary: Genetic argininosuccinate lyase (ASL) deficiency results in excess blood ammonia and downstream neurological and metabolic impairments. Gurung et al. report that ASL deficiency in patients also causes dysregulation of glutathione synthesis. Lipid nanoparticle–encapsulated human ASL mRNA corrected glutathione and urea metabolism and ameliorated liver disease symptoms in a mouse model of the disease. PET imaging of the mice further suggested that [18F]FSPG, as a readout of glutathione synthesis, may have utility in monitoring the extent of disease and treatment response. —Catherine Charneski [ABSTRACT FROM AUTHOR]

Glycogen storage disease (GSD) type 1a is an inherited autosomal recessive metabolic disease caused by a deficiency in glucose-6-phosphatase activity. The objectives of this research were to systematically review the published literature on the epidemiology of GSD 1a and to assess the performance of reported epidemiology measures in a simulation model. In this systematic literature review 2,539 record titles and abstracts were screened. Of these, only 11 studies contained relevant data on GSD 1a disease epidemiology. Reported disease frequency ranged from 0.085/100,000 to 10.3/100,000 newborns when considering all the GSD literature. When this was narrowed to GSD 1 and GSD 1a, the range was tightened to 0.25–3.02/100,000 and 0.085–4.9/100,000 newborns, respectively. Most of the identified studies counted the number of diagnoses in a defined period and related to the number of births in the same (Dx method) or different time period (DoB method). The simulation model results indicate that in most of the situations, the Dx method provides a closer estimate to the true disease incidence than the DoB method. Despite the scarcity of epidemiology data, the results of this systematic review strongly support that GSD 1a and its parent disease groups (GSD and GSD 1) are rare diseases. [ABSTRACT FROM AUTHOR]

Glucose-6-phosphatase-α (G6Pase-α) catalyzes the hydrolysis of glucose-6-phosphate to glucose and functions as a key regulator in maintaining blood glucose homeostasis. Deficiency in G6Pase-α causes glycogen storage disease 1a (GSD1a), an inherited disorder characterized by life-threatening hypoglycemia and other long-term complications. We have developed a potential mRNA-based therapy for GSD1a and demonstrated that a human G6Pase-α (hG6Pase-α) variant harboring a single serine (S) to cysteine (C) substitution at the amino acid site 298 (S298C) had > twofold increase in protein expression, resulting in improved in vivo efficacy. Here, we sought to investigate the mechanisms contributing to the increased expression of the S298C variant. Mutagenesis of hG6Pase-α identified distinct protein variants at the 298 amino acid position with substantial reduction in protein expression in cultured cells. Kinetic analysis of expression and subcellular localization in mammalian cells, combined with cell-free in vitro translation assays, revealed that altered protein expression stemmed from differences in cellular protein stability rather than biosynthetic rates. Site-specific mutagenesis studies targeting other cysteines of the hG6Pase-α S298C variant suggest the observed improvements in stability are not due to additional disulfide bond formation. The glycosylation at Asparagine (N)-96 is critical in maintaining enzymatic activity and mutations at position 298 mainly affected glycosylated forms of hG6Pase-α. Finally, proteasome inhibition by lactacystin improved expression levels of unstable hG6Pase-α variants. Taken together, these data uncover a critical role for a single amino acid substitution impacting the stability of G6Pase-α and provide insights into the molecular genetics of GSD1a and protein engineering for therapeutic development. [ABSTRACT FROM AUTHOR]

Stroke significantly impairs health-related quality of life (HRQL). Stroke survivors with aphasia (SWA) experience lower HRQL than stroke survivors without aphasia (SSA) as a result of poorer communication and social functioning. The extent to which aphasia influences HRQL in African-Americans and the components of social functioning that are most important to HRQL warrants further exploration. There were two main objectives of this paper. The first was to survey HRQL domains of communication, physical, mental/emotional, role, and social functioning in African American SWA and SSA. The second was to examine if social support and social network predicted HRQL in SWA. A total of 39 African American adults (62.4 ± 11.10) participated in this descriptive cross-sectional case control study. Patient-reported outcome measures were used to assess HRQL, perceived social support, and social network in SWA, SSA, and normal-aging healthy controls (NAH). Data analysis included an ANOVA and moderator regression to determine if social support or social network predicted HRQL in SWA. SWA reported a significantly lower overall HRQL (p = <.000) than NAH adults. Communication HRQL was the hallmark difference found between SWA and SSA (p = <.000). Social support and social network were relatively similar among all three groups. However, social support and social network did not predict HRQL in SWA. Findings from this study suggest that social HRQL continues to be significantly lower in SWA; however, social support and social network factors do not drive differences among African-Americans. Moreover, communication HRQL remains the hallmark difference between SWA and SSA. [ABSTRACT FROM AUTHOR]

Purpose: Peer-reviewed research is the typical pathway for research to be implemented into clinical practice. However, the Internet, digital technology, and social media have introduced significant changes for how this information is shared, publicized, evaluated, and utilized. Some of these changes are positive, such as rapid distribution of needed information, whereas others are negative, such as widespread dissemination and influence of fake news and misinformation. The purpose of this editorial is to provide a brief look at how these negative changes have affected the helping professions. Conclusion: In view of the wide-ranging challenges and influences described here, this editorial is a call for action to our researchers, educators, and clinicians to examine how social media has impacted the scientific practice of communication sciences and disorders. It concludes with a series of questions and examples for how this examination might unfold. [ABSTRACT FROM AUTHOR]

Critical thinking is increasingly recognized as an essential knowledge and skill for the helping professions. Yet, our pedagogical literature has provided infrequent guidance on how instructors can help students to understand what "critical thinking" means or how it might contribute to their professional lives. Therefore, the purpose of this tutorial is to provide guidelines on how instructors might teach future practitioners to become critical thinkers. The main topics address an instructional definition of critical thinking, the basic knowledge and skills that comprise critical thinking, a broad view of instructional approaches, and a summary of developmental milestones of adult critical thinkers. Specific teaching strategies from instructors who have hands-on experience with guiding their students to become critical thinkers are included. [ABSTRACT FROM AUTHOR]

Background: Traditional journal club models based on didactic presentation sessions followed by group discussion have many limitations. To overcome some of these shortcomings, a virtual journal club (VJC) using social media and e-mail was developed. The aim of this study was to report the initial experience of this novel multimodal e-learning platform to facilitate journal club discussion and promote the development of critical appraisal skills. Methods: Journal articles were discussed monthly via e-mail and social media. After a 3-week period of discussion, all comments were collated and groupgenerated critical appraisal summaries were fed back to participants. In addition, letters to the journal editors based on the group appraisal were submitted. A questionnaire survey to evaluate the VJC concept was also conducted. Findings: After eight cycles of the VJC, the mean trainee participation rate was 29.6 per cent (range 21.1-42.1%). Senior trainees (≥4 years of postgraduate experience) were more likely to participate than more junior trainees (75.0 versus 21.1%; p = 0.005). The majority of participants thought that the VJC was educationally valuable, easy to participate in, helpful in keeping up to date with recent papers and useful in developing critical appraisal skills. Barriers to participation were lack of time, motivation and lack of experience in critical appraisal. In addition, the group- generated critical appraisal summaries derived from VJC discussions led to eight published 'letters to the editor'. Conclusion: This novel VJC model is a feasible and popular method of delivering a journal club in the postgraduate setting. [ABSTRACT FROM AUTHOR]

Purpose: This prologue serves to introduce a research forum composed of studies that address the topic of stuttering in school-age children and adolescents. Researchers are encouraged to continue to build the knowledge base that sustains evidence-based practice in this area. Method: The nature of stuttering as it evolves from early childhood into the school years is briefly described. Beyond the preschool years, children are unlikely to spontaneously recover from stuttering, and they often go on to suffer negative consequences, academically and socially, because of their disorder. If they are to overcome or manage their stuttering successfully, school-age children and adolescents require high-quality treatment. Three data-based studies that address the topic of stuttering in school-age children or adolescents are described, the ongoing need for empirical evidence regarding the management of stuttering is emphasized, and several issues relevant to future studies in this area are discussed. Conclusion: Progress has occurred in the management of stuttering in school-age children and adolescents. Nevertheless, important questions remain unanswered concerning the most effective techniques and strategies to use in helping students who stutter achieve more fluent and natural-sounding speech in their quest to become more confident and effective communicators. [ABSTRACT FROM AUTHOR]

Purpose: I respond to Kamhi's (2011) conclusion in his article "Balancing Certainty and Uncertainty in Clinical Practice" that rational or critical thinking is an essential complement to evidence-based practice (EBP). Method: I expand on Kamhi's conclusion and briefly describe what clinicians might need to know to think critically within an EBP profession. Specifically, I suggest how critical thinking is relevant to EBP, broadly summarize the relevant skills, indicate the importance of thinking dispositions, and outline the various ways our thinking can go wrong. Conclusion: I finish the commentary by suggesting that critical thinking skills should be considered a required outcome of our professional training programs. [ABSTRACT FROM AUTHOR]

Purpose: To respond to several of the issues raised in J. Kalinowski, T. Saltuklaroglu, A. Stuart, and V. K. Guntupalli's (2007) critique of our previous article (P. Finn, A. K. Bothe, & R. E. Bramlett, 2005). Method: Information is provided to refute criticisms raised by Kalinowski et al. about the Finn et al. article, including with respect to that report 's methodology, previous research about fluency-inducing conditions in stuttering, and the SpeechEasy device. Conclusions: Available data show that delayed auditory feedback, frequency-altered feedback, masking, and chorus reading can result in reduced stuttering for some speakers, and the inconsistencies and variability in available reports suggest that further careful and creative research could be very valuable. Neither the information about the SpeechEasy provided by its developers, however, nor the manner in which that information has been presented and discussed by its developers rises to the standards of a science-based clinical service discipline. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this tutorial is to describe 10 criteria that may help clinicians distinguish between scientific and pseudoscientific treatment claims. The criteria are illustrated, first for considering whether to use a newly developed treatment and second for attempting to understand arguments about controversial treatments. Method: Pseudoscience refers to claims that appear to be based on the scientific method but are not. Ten criteria for distinguishing between scientific and pseudoscientific treatment claims are described. These criteria are illustrated by using them to assess a current treatment for stuttering, the SpeechEasy device. The authors read the vailable literature about the device and developed a consensus set of decisions about the 10 criteria. To minimize any bias, a second set of independent judges evaluated a sample of the same literature. The criteria are also illustrated by using them to assess controversies surrounding 2 treatment approaches: Fast ForWord and facilitated communication. Conclusions: Clinicians are increasingly being held responsible for the evidence base that supports their practice. The power of these 10 criteria lies in their ability to help clinicians focus their attention on the credibility of that base and to guide their decisions for recommending or using a treatment. [ABSTRACT FROM AUTHOR]

A number of terminal phosphate-labeled nucleotides with three or more phosphates and with varied length linkers attached between the terminal phosphate and the dye have been synthesized. These nucleotides have been tested as substrates for different DNA and RNA polymerases. We have also explored their utility in DNA sequencing, SNP analysis, nucleic acid amplification, quantitative PCR, and other biochemical assays. [ABSTRACT FROM AUTHOR]

A four-color set of negatively charged, single dye as well as energy transfer dye labeled-ddNTPs were synthesized and evaluated in combination with a novel polymerase in a “direct-load” DNA sequencing, obviating the laborious and time consuming post-reaction work-up. [ABSTRACT FROM AUTHOR]

A number of different energy transfer dye labeled-cassettes were synthesized using aminoacid based trifunctional linkers and coupled to the propargylamino-substituted dideoxynucleoside-5′-triphosphates (ddNTPs). These terminators were evaluated for their energy transfer efficiency and DNA sequencing potential using thermostable DNA polymerase. [ABSTRACT FROM AUTHOR]

This study investigated the modification of speech naturalness during stuttering treatment. It systematically replicated an earlier study (Ingham & Onslow, 1985) that demonstrated that unnatural-sounding stutter-free speech could be shaped into more natural-sounding stutter-free speech by using regular feedback of speech-naturalness ratings during speaking tasks. In the present study, the same procedure was used with three persons who stutter--2 adolescent girls and 1 adult man--during rhythmic stimulation conditions. The two adolescent participants spoke only English, but Spanish was the first and English the second language (ESL) of the adult participant. For the 2 adolescents, it was demonstrated that their unnatural-sounding rhythmic speech could be shaped to levels found among normally fluent speakers without losing the fluency-inducing benefits of rhythmic speech. The findings indicate that speech-naturalness feedback may be a powerful procedure for overcoming a problematic aspect of rhythmic speech treatments of stuttering. However, it was not possible to deliver reliable speech-naturalness feedback to the adult ESL speaker, who also displayed a strong dialect. The study highlights the need to find strategies to improve interjudge agreement when using speech-naturalness ratings with speakers who display a strong dialect. [ABSTRACT FROM AUTHOR]

Examines the validation of recovery from stuttering without formal treatment. Independent verification and self-reports; Recovery from stuttering without assistance; Independence of recovery from treatment.

Presents a study on the reliability and validity of stutterers' self-ratings of speech naturalness and speech monitoring. Rhythmic stimulation; Stutter and syllable counts; Effects and agreement levels; Comparison between on-line ratings and off-line ratings; Correlation analysis of independent and dependent variables.

Examines the speech perceptual differences in children who have recovered from stuttering without formal treatment from the children who never stuttered. Effect of discrimination or identification on speech perception in children; Measurement of speech naturalness; Factors responsible for recovery from stuttering; Use of the perceptual judgment task.

Presents a study determining the perceptual differences in the speech of adults who had recovered from stuttering without the assistance of treatment. Measurement of various speech behavior; Correlation of the perceptual differences with unnatural sounding speech and a high-frequency of part-word repetitions; Screening criteria used in normally fluent speakers.

Investigates the effect of speech dialect on listeners' speech naturalness ratings. Systematic replication of Martin, Haroldson and Triden's (1984) study using three groups of speaker samples; Stuttering; Speech fluency and speaking rate; Dialect as an important factor that needs to be incorporated within systems designed to train speech naturalness ratings.

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The article presents a case study of a 68-year-old woman suffering from idiopathic peripheral neuropathy and hypertension as well as diarrhoea, abdominal pain and nausea. The patient underwent abdominal computed tomography (CT) scan before laparotomy which showed perforation at her distal signoid. An overview of pathological analysis and its uncovering of a segmental absence of the intestinal musculature (SAIM) is also presented.

Acid sphingomyelinase (ASM) deficiency is an autosomal recessive disorder resulting from a deficiency of the lysosomal enzyme ASM and subsequent accumulation of sphingomyelin (SM). A mouse model of ASM deficiency was created in which accumulation of SM occurs similar to the human form of the disease. Previously, we demonstrated a dose responsive toxicity following a rapid bolus administration of recombinant human ASM (rhASM) in this mouse model. Specifically, a reduction in heart rate, mean arterial pressure and activity was observed, as well as a dose-responsive increase in pro-inflammatory cytokines IL-6, IL-1α and IL-1β. Diminishing the substrate load in mice by administering low doses of rhASM prior to the known toxic dose prevented these toxic responses suggesting that the rate of SM degradation was related to the toxicity. To investigate the molecular mechanism of this effect, gene expression profiling of several tissues following rhASM administration was performed. The results of this analysis demonstrated an activation of stress and inflammatory gene pathways downstream of the cell signaling molecule ceramide. Since ceramide is a breakdown product of SM, these results confirmed that the mechanism of toxicity is related to the degradation of SM. Furthermore, this investigation may lead to the identification of early biomarkers of toxicity that could be monitored in the clinical setting. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the report by Andrews and Craig in the August 1988 issue which claims to have identified three treatment goals that predict long-term success following stuttering therapy.