A systematic review of interventions for echolalia in autistic children.

INTRODUCTION: Echolalia, the repetition of others' speech, is a common observation in autistic people. Research has established that echolalia is functional and meaningful for many; however, some clinicians and researchers continue to characterise it as pathological and in need of reduction. The aim of this systematic review was to understand the range and impact of interventions for echolalia in autistic children. METHOD: A systematic search was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 15 studies met predetermined inclusion criteria. Screening, data extraction and quality rating using the Scientific Merit Rating Scale (SMRS) were performed in duplicate. RESULTS: Ten interventions across 15 papers were found. Results indicated that interventions generally decreased levels of echolalia. However, there were considerable inconsistencies in the definitions and conceptualisations of echolalia, administration, generalisation techniques and the measures used. The quality of the studies was very low. CONCLUSION: Interventions for echolalia vary widely in terms of administration and measurement. There is limited consensus on the definition of echolalia among the reviewed studies, and no evidence that echolalia is recognised as functional or meaningful to the autistic children. Further, the lack of methodological rigour makes it difficult to draw clinical conclusions about the interventions. WHAT THIS PAPER ADDS: What is already known Echolalia is the immediate or delayed repetition of others' speech and is a common observation in autistic children and in some older autistic people. While research and practice has established that echolalia is a functional and meaningful form of communication, particularly for those first developing spoken communication, some clinicians and researchers continue to characterise it as problematic and suggest that echolalia should be reduced or eliminated. What this study adds We systematically searched the literature about echolalia interventions to try to find out about the types of interventions that aim to reduce or eliminate echolalia. We found 15 studies on this topic. The way they defined echolalia was varied, and there was a range of interventions researched. None of the research papers recognised echolalia as functional or meaningful and the quality of the research was very low. What are the potential or actual clinical implications of this work? Clinicians, families and researchers should think carefully and critically about suggesting any programs or supports that aim to reduce echolalia as no recommendations can be drawn from the research we studied. Echolalia should be considered functional, and efforts made to understand the meaning and purpose of echolalic speech.

Visual Speech Benefit in Clear and Degraded Speech Depends on the Auditory Intelligibility of the Talker and the Number of Background Talkers.

Perceiving speech in background noise presents a significant challenge to listeners. Intelligibility can be improved by seeing the face of a talker. This is of particular value to hearing impaired people and users of cochlear implants. It is well known that auditory-only speech understanding depends on factors beyond audibility. How these factors impact on the audio-visual integration of speech is poorly understood. We investigated audio-visual integration when either the interfering background speech (Experiment 1) or intelligibility of the target talkers (Experiment 2) was manipulated. Clear speech was also contrasted with sine-wave vocoded speech to mimic the loss of temporal fine structure with a cochlear implant. Experiment 1 showed that for clear speech, the visual speech benefit was unaffected by the number of background talkers. For vocoded speech, a larger benefit was found when there was only one background talker. Experiment 2 showed that visual speech benefit depended upon the audio intelligibility of the talker and increased as intelligibility decreased. Degrading the speech by vocoding resulted in even greater benefit from visual speech information. A single "independent noise" signal detection theory model predicted the overall visual speech benefit in some conditions but could not predict the different levels of benefit across variations in the background or target talkers. This suggests that, similar to audio-only speech intelligibility, the integration of audio-visual speech cues may be functionally dependent on factors other than audibility and task difficulty, and that clinicians and researchers should carefully consider the characteristics of their stimuli when assessing audio-visual integration.

National Survey of Oncologists at National Cancer Institute-Designated Comprehensive Cancer Centers: Attitudes, Knowledge, and Practice Behaviors About LGBTQ Patients With Cancer.

PURPOSE: To identify potential gaps in attitudes, knowledge, and institutional practices toward lesbian, gay, bisexual, transgender, and queer/questioning (LGBTQ) patients, a national survey of oncologists at National Cancer Institute-Designated Comprehensive Cancer Centers was conducted to measure these attributes related to LGBTQ patients and desire for future training and education. METHODS: A random sample of 450 oncologists from 45 cancer centers was selected from the American Medical Association's Physician Masterfile to complete a survey measuring attitudes and knowledge about LGBTQ health and institutional practices. Results were quantified using descriptive and stratified analyses and by a novel attitude summary measure. RESULTS: Of the 149 respondents, there was high agreement (65.8%) regarding the importance of knowing the gender identity of patients, which was contrasted by low agreement (39.6%) regarding the importance of knowing sexual orientation. There was high interest in receiving education regarding the unique health needs of LGBTQ patients (70.4%), and knowledge questions yielded high percentages of "neutral" and "do not know or prefer not to answer" responses. After completing the survey, there was a significant decrease ( P < .001) in confidence in knowledge of health needs for LGB (53.1% agreed they were confident during survey assessment v 38.9% postsurvey) and transgender patients (36.9% v 19.5% postsurvey). Stratified analyses revealed some but limited influence on attitudes and knowledge by having LGBTQ friends and/or family members, political affiliation, oncology specialty, years since graduation, and respondents' region of the country. CONCLUSION: This was the first nationwide study, to our knowledge, of oncologists assessing attitudes, knowledge, and institutional practices of LGBTQ patients with cancer. Overall, there was limited knowledge about LGBTQ health and cancer needs but a high interest in receiving education regarding this community.

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.

AIM: Myotonic dystrophy type 1 (DM1), a neuromuscular disorder, is divided into four clinical phenotypes: congenital; childhood; adult-onset, and late-onset. Publications about the childhood phenotype, especially the long-term outcome, are scarce. The aims of this study were to assess and describe participation outcomes in adults with the childhood phenotype. METHOD: A retrospective chart methodology. Data were extracted from health records for 63 adults with childhood DM1 (32 males, 31 females; mean age 34y, standard deviation [SD] 11y 6mo; range 18-54y) who had attended the Saguenay Neuromuscular Clinic, Canada. RESULTS: Thirty-four adults (54%) lived with their parents or in foster homes, and most patients needed services or help to live independently. A significant proportion (22%) were isolated in regard to friendship. Very few adults had children, although 33% lived with a spouse. The majority of patients (86%) relied on social security and only one person was currently working. Financial responsibilities were often an issue and 13 (21%) were under legal guardianship. INTERPRETATION: This study showed that patients with the childhood phenotype present a guarded prognosis regarding long-term social participation. These participation restrictions could be related to behavioural, cognitive, and social stigma problems in childhood. This study illustrates the absolute necessity to pursue an interdisciplinary follow-up of these patients when they are reaching adulthood.

Construction of a functional thymic microenvironment from pluripotent stem cells for the induction of central tolerance.

The thymus is required for generation of a self-tolerant, self-restricted T-cell repertoire. The capacity to manipulate or replace thymus function therapeutically would be beneficial in a variety of clinical settings, including for improving recovery following bone marrow transplantation, restoring immune system function in the elderly and promoting tolerance to transplanted organs or cells. An attractive strategy would be transplantation of thymus organoids generated from cells produced in vitro, for instance from pluripotent stem cells. Here, we review recent progress toward this goal, focusing on advances in directing differentiation of pluripotent stem cells to thymic epithelial cells, a key cell type of the thymic stroma, and related direct reprogramming strategies.

Recovery, as Experienced by Women with Borderline Personality Disorder.

Studies examining recovery through the service users' perspectives have mainly included persons with schizophrenia or bipolar disorder. Giving voice to those with borderline personality disorder (BPD) would enrich our understanding of recovery, as their specific experiences may bring new dimensions, obstacles and facilitators. The objective of this study was to qualitatively capture the experience of recovery in women with BPD. Participants were women between 18 and 65 years old who had a diagnosis of BPD and completed at least 2 years in a program for persons with BPD. During the first meeting, they produced a picture collage, followed by an interview on their experience of recovery. The second meeting was a phone interview to discuss new thoughts. In addition, their medical records were reviewed. A thematic analysis of the interviews was conducted and organized with the Person-Environment-Occupation model. Although recovery was not the best term to name their experience, they all talked about a process towards stability and wellbeing (n = 12). Dimensions of recovery included, for example, letting go of the past (person), being involved in meaningful activities (occupation) and having healthy relationships (environment). Facilitators included social support and participation in a specialized therapy program. The main obstacle was unstable family relationships. The findings from this study showed similar dimensions to previous recovery studies, new perspectives on certain dimensions, as well as new ones. They also reinforced the importance to incorporate intervention outcomes that target the person with BPD, their social environment and meaningful occupations.

An organized and functional thymus generated from FOXN1-reprogrammed fibroblasts.

A central goal of regenerative medicine is to generate transplantable organs from cells derived or expanded in vitro. Although numerous studies have demonstrated the production of defined cell types in vitro, the creation of a fully intact organ has not been reported. The transcription factor forkhead box N1 (FOXN1) is critically required for development of thymic epithelial cells (TECs), a key cell type of the thymic stroma. Here, we show that enforced Foxn1 expression is sufficient to reprogramme fibroblasts into functional TECs, an unrelated cell type across a germ-layer boundary. These FOXN1-induced TECs (iTECs) supported efficient development of both CD4(+) and CD8(+) T cells in vitro. On transplantation, iTECs established a complete, fully organized and functional thymus, that contained all of the TEC subtypes required to support T-cell differentiation and populated the recipient immune system with T cells. iTECs thus demonstrate that cellular reprogramming approaches can be used to generate an entire organ, and open the possibility of widespread use of thymus transplantation to boost immune function in patients.

Advancing imitation and requesting skills in toddlers with Down syndrome.

Drawing upon information about the Down syndrome behavioral phenotype and empirically based intervention strategies, we examined intervention addressing early communication impairments in young children with Down syndrome. Intervention involved multiple opportunities, shaping, prompting, and reinforcement to address both verbal imitation and requesting. Intervention also incorporated the relative strengths in social development characteristic of the Down syndrome behavioral phenotype by focusing on a more social request prior to addressing the more impaired instrumental request, as well as incorporating social consequences. Three of the four toddlers with Down syndrome were taught verbal imitation skills, two of whom generalized to novel sounds. All four toddlers with Down syndrome acquired requesting skills in the form of gaze shifting and vocalizing; three were also taught verbal approximations of requesting words (e.g., "mm" for "more") using imitative prompts. These results contribute to the small, but growing, literature demonstrating behavior analytic interventions informed by an understanding of the Down syndrome behavioral phenotype.

Structure and function of the thymic microenvironment.

Organs are more than the sum of their component parts--functional competence requires that these parts not only be present in the appropriate proportions, but also be arranged and function together in specific ways. The thymus is an excellent example of the connection between cellular organization and organ function. Unlike more familiar organs, such as lung or kidney, the thymus is not organized into easily identifiable structures such as tubes and ordered cell layers, but instead is a complex meshwork of microenvironments through which T cell progenitors migrate, receiving signals that instruct them to differentiate, proliferate, or die. Proper thymic organization is essential to the optimal production of a functional T cell repertoire. During aging, the thymus undergoes involution, largely due to degradation of the TEC microenvironmental compartment, which then fails to support optimal thymocyte development resulting in reduced output of naive T cells. This review will summarize the current state of understanding of the composition and organization of thymic microenvironments and the mechanisms that promote their proper development and function.

Maternal serum activin A is not elevated before preeclampsia in women who are at high risk.

OBJECTIVE: The purpose of this study was to determine whether, in women who are at high risk of the development of preeclampsia, serum activin A concentrations are elevated before the disease and whether activin A is a useful predictor of preeclampsia. STUDY DESIGN: Sera were collected on five occasions throughout pregnancy from women with chronic hypertension, renal disease, or previous early-onset preeclampsia (n = 80 women). Women were classified as control subjects (normotensive or stable chronic hypertension), gestational hypertensive, or preeclamptic (de novo or superimposed). Serum activin A concentrations were measured by immunoassay. Differences in activin A concentrations between groups were analyzed with the use of a mixed-models procedure; screening test characteristics were calculated. RESULTS: Twenty-six women (33%) had gestational hypertension, and 17 women (21%) had preeclampsia or superimposed preeclampsia. Serum activin A levels increased with gestation in all groups (P =.0001), but there were no significant difference in activin A levels between groups (P =.75). CONCLUSION: In women who were at high risk of the development of preeclampsia, serum activin A levels are not elevated with preeclampsia. Activin A is not a useful predictor of preeclampsia in this setting.