Biofeedback treatment of paradoxical vocal fold motion and respiratory distress in an adolescent girl

In this investigation, we evaluated the effectiveness of surface electromyography (EMG) biofeedback to treat paradoxical vocal fold motion in a 16-year-old girl. EMG biofeedback training occurred once per week over the course of 10 weeks. In a changing criterion design, muscle tension showed systematic changes that corresponded with changes in the criterion. Overall, baseline muscle tension levels were reduced over 60%, with corresponding reductions in episodes of respiratory distress and chest pain. Subjective reports by the patient and the patient's mother indicated improvements in school attendance and overall adaptive functioning.     

MODIFICATION OF ACTIVITY LEVEL THROUGH BIOFEEDBACK AND OPERANT CONDITIONING1

The biomotometer, an electronic device that simultaneously measures activity and provides auditory feedback to the subject, was used in combination with material reinforcers in two experiments attempting to modify activity level in children. In the first study the activity level of an 11-year-old highly active boy was decreased below mean baseline during conditioning in a classroom setting. His level of activity returned to baseline when feedback was withdrawn. In the second study, activity level of a 10-year-old hypoactive boy was increased over mean baseline level during conditioning in a free-play setting, and returned to slightly below baseline during five extinction trials. Results of these studies indicate that the biomotometer is a useful instrument for modification of activity level.     

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.     

PSO-GA based hybrid with Adam Optimization for ANN training with application in Medical Diagnosis

This paper introduces a novel PSO-GA based hybrid training algorithm with Adam Optimization and contrasts performance with the generic Gradient Descent based Backpropagation algorithm with Adam Optimization for training Artificial Neural Networks. We aim to overcome the shortcomings of the traditional algorithm, such as slower convergence rate and frequent convergence to local minima, by employing the characteristics of evolutionary algorithms. PSO has a property of faster convergence rate, which can be exploited to account for the slower pace of convergence of the traditional BP (which is due to low values of gradients). In contrast, the integration with GA complements the drawback of convergence to local minima as GA, possesses the capability of efficient global search. So by this integration of these algorithms, we propose our new hybrid algorithm for training ANNs. We compare both the algorithms for the application of medical diagnosis. Results display that the proposed hybrid training algorithm, significantly outperforms the traditional training algorithm, by enhancing the accuracies of the ANNs with an increase of 20% in the average testing accuracy and 0.7% increase in the best testing accuracy.     

Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations are based on the committee’s clinical experiences, a review of pertinent English language medical articles, and reports of expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider’s professional judgment based on the clinical circumstances of an individual patient. Both Heather B. Radtke and Courtney D. Sebold contributed equally to this document.     

What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing

The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.     

Career Research Interests and Training of Genetic Counseling Students

Research is important to validate clinical services, provide information on the effectiveness of practice techniques, and develop the knowledge base of a clinical profession. Genetic counseling students from American Board of Genetic Counseling (ABGC) accredited training programs were surveyed to determine their career research interests and interest in pursuing a hypothetical doctoral degree in genetic counseling. Genetic counseling program directors were surveyed to assess the emphasis on research training within their programs. A substantial number (46%, n = 92) of genetic counseling students are interested in performing research in their careers and many (40%, n = 80) would pursue a doctoral degree in genetic counseling if it was available. Students and directors from programs with a thesis requirement reported a significantly higher emphasis on career research preparation than those from programs without a thesis requirement. The results of this study indicate that future genetic counselors are interested in contributing to the research base that will advance the field. This study suggests a need to strengthen research training within ABGC accredited graduate programs and explore the development of a doctoral degree option in genetic counseling.     

Coming Full Circle: A Reciprocal-Engagement Model of Genetic Counseling Practice

As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession. Twenty-three program directors or their representatives from 20 genetic counseling graduate programs in North America listened to presentations and participated in group discussions aimed at determining the elements of a model of practice, including tenets, goals, strategies, and behaviors for addressing patients’ genetic concerns. Their discussion is summarized, training implications and research recommendations are presented, and a model of practice that extends their ideas is proposed.     

What I Wish I Knew Then...Reflections from Personal Experiences in Counseling about Down Syndrome

Sharing the news about a newborn baby’s diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel uncomfortable or unsure how to best support families in this setting in a way that will foster competence and resilience. This commentary is a reflection of one genetic counselor’s experiences in counseling about Down syndrome over the course of her career and how her thinking has transitioned from a medical based model of disability to a more individual and family-focused model. Ideas and suggestions are offered that genetic counselors can incorporate into their practice.     

Modifying the body: motivations for getting tattooed and pierced

Body modifications have been prevalent for centuries and are practiced for a great variety of reasons. Lately, tattoos and body piercings have become increasingly popular. Thus, a profound understanding of the underlying motivations behind obtaining tattoos and body piercings nowadays is required. A considerable body of research on motivational aspects already exists, mainly using explorative approaches to describe motivations. In this paper we provide a review of the existing relevant literature. Furthermore, we establish ten broad motivational categories, comprising motivations for getting tattooed and body pierced, for reference in future research.