Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022.

Due to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic. Studies were summarized in terms of (a) participants, (b) dependent variables related to communication, (c) intervention characteristics, (d) outcomes, and (e) certainty of evidence. Across the 16 studies, intervention was provided to a total of 100 participants from 3 to 47 years of age. Half of the studies used systematic instruction to teach aided AAC. Other interventions and associated technologies included music therapy, eye tracking technology, and transcranial stimulation. Positive outcomes (e.g., using AAC devices to make requests and/or initiate social-communication interactions) were reported in 13 of the studies. These 16 new studies provide additional guidance on how to enhance the communicative functioning of people with Rett syndrome. Future research directions are highlighted.

Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.

Genetic therapies have shown recent promise in alleviating some of the cognitive issues associated with some genetic disorders; however, these therapies may come with significant health and socio-ethical concerns, particularly when they involve child participants. Little is known about what parents of children with genetic disorders think about genetic therapies, or about their knowledge of how genetic-based therapy might treat their child's symptoms. Forty-two parents of children with Angelman syndrome (AS) and 27 parents of a mixed etiology comparison group completed an online survey reporting on their perceptions of, and priorities for, genetic therapy. Almost all parents of children with AS (95%) and the comparison group (89%) agreed that treatments aiming to reduce symptoms associated with their child's syndrome were positive. However, significantly more parents of children with AS (95%) than the comparison group (56%) felt that genetic treatment trials aiming to "cure" their child should be a research priority. AS parent priorities for the focus of clinical trials were neurology/seizures, communication skills, and motor skills/mobility. For the comparison group, the priorities were IQ, immune response, and expressive speech. Parents of both groups did not want treatments to change their child's personality or their happiness. Global assumptions cannot be made about targets for therapy between syndromes, about parental understanding of genetics, or about research evidence across syndromes. This study highlights the need for true family and patient engagement in all stages of the research design and treatment evaluation.

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

PURPOSE OF REVIEW: Substantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood. RECENT FINDINGS: This early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention. In this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection 'Fingerprint Model', suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

Microswitch Technology for Enabling Self-Determined Responding in Children with Profound and Multiple Disabilities: A Systematic Review.

We reviewed 18 studies reporting on the use of microswitch technology to enable self-determined responding in children with profound and multiple disabilities. Identified studies that met pre-determined inclusion criteria were summarized in terms of (a) participants, (b) experimental design, (c) microswitches and procedures used, and (d) main results. The 18 studies formed three groups based on whether the microswitch technology was primarily intended to enable the child to (a) access preferred stimuli (7 studies), (b) choose between stimuli (6 studies), or (c) recruit attention/initiate social interaction (5 studies). The results of these studies were consistently positive and support the use of microswitch technology in educational programs for children with profound and multiple disabilities as a means to impact their environment and interact with others. Implications for delivery of augmentative and alternative communication intervention to children with profound and multiple disabilities are discussed.

Tangible Symbols as an AAC Option for Individuals with Developmental Disabilities: A Systematic Review of Intervention Studies.

We reviewed nine studies evaluating the use of tangible symbols in AAC interventions for 129 individuals with developmental disabilities. Studies were summarized in terms of participants, tangible symbols used, communication functions/skills targeted for intervention, intervention procedures, evaluation designs, and main findings. Tangible symbols mainly consisted of three-dimensional whole objects or partial objects. Symbols were taught as requests for preferred objects/activities in five studies with additional communication functions (e.g., naming, choice making, protesting) also taught in three studies. One study focused on naming activities. With intervention, 54% (n = 70) of the participants, who ranged from 3 to 20 years of age, learned to use tangible symbols to communicate. However, these findings must be interpreted with caution due to pre-experimental or quasi-experimental designs in five of the nine studies. Overall, tangible symbols appear promising, but additional studies are needed to establish their relative merits as a communication mode for people with developmental disabilities.

Impact of initiation of SGLT2 inhibitor treatment on the development of arrhythmias in patients with implantable cardiac devices.

INTRODUCTION AND OBJECTIVES: Sodium-glucose cotransporter type 2 inhibitors (SGLT2i) have been associated with improved prognosis in patients with heart failure, but their impact on atrial arrhythmic (AA) and ventricular arrhythmic (VA) events is not fully understood. METHODS: This multicenter retrospective study included patients with implantable cardioverter-defibrillators who initiated treatment with SGLT2i. AA and VA events were compared in 2 time periods for each patient: 1 year before and 1 year after starting SGLT2i. RESULTS: The study included 195 patients (66.8 [61.3-73.1] years, 18.5% women). In the post-SGLT2i period, there was a reduction in the percentage of patients with any VA (pre: 52.3% vs post: 30.3%; P<.001) and clinically relevant VA (excluding nonsustained ventricular tachycardia) (pre: 21.5% vs post: 8.7%; P<.001). There was also a decrease in the number of episodes per patient/y of nonsustained ventricular tachycardia (pre: 2 (1-5) vs post: 1 (0-2); P<.001) and sustained ventricular tachycardia (pre: 1 (1-3) vs post: 0 (0-2); P=0.046). However, no differences were observed in the prevalence of AA (24.7% vs 18.8%; P=.117) or the burden of atrial fibrillation (pre: 0% (0-0.1) vs post: 0% (0-0); P=.097). CONCLUSIONS: Initiation of SGLT2i treatment was associated with a decrease in the percentage of patients with relevant VA but this effect was not observed for AA.

Teaching multi-step requesting and social communication to two children with autism spectrum disorders with three AAC options.

The present study involved comparing the acquisition of multi-step requesting and social communication across three AAC options: manual signing (MS), picture exchange (PE), and speech-generating devices (SGDs). Preference for each option was also assessed. The participants were two children with autism spectrum disorders (ASD) who had previously been taught to use each option to request preferred items. Intervention was implemented in an alternating-treatments design. During baseline, participants demonstrated low levels of correct communicative responding. With intervention, both participants learned the target responses (two- and three-step requesting responses, greetings, answering questions, and social etiquette responses) to varying levels of proficiency with each communication option. One participant demonstrated a preference for using the SGD and the other preferred PE. The importance of examining preferences for using one AAC option over others is discussed.

What parents want: A qualitative analysis of a parent-implemented intervention for autistic children.

Background and aims: Guidelines regarding social cognitive interventions for autistic children suggest incorporating a holistic approach. This includes increasing the family's understanding of difficulties associated with autism, integrations of natural environments, and parents as active agents in the intervention while being supported for their well-being. The current availability of holistic parent-implemented interventions for autistic children is limited, with no qualitative understanding of how parents view the benefits for themselves or their children. Method: The current study expands the literature regarding holistic approaches through a qualitative understanding of parent perceptions of a parent-implemented social communication intervention for autistic children (TalkAbility™), which incorporates a 6-month follow-up. This study sought to gain a deeper understanding from parents on their perceptions of a holistic approach, including the impact on themselves, their families, and their autistic child. Results: Following Braun and Clarke's model of thematic analysis, data was coded into four themes: (a) communication difficulties, frustrations, and progress, (b) social relationships and concerns, (c) communication strategies, and (d) thoughts and emotions surrounding TalkAbility™. Conclusions: Parents report that many components of a holistic approach are instrumental in encouraging social communication in their autistic child. Results highlight the importance of considering parent experiences regarding interventions for their child's social communication skills through a qualitative viewpoint. Implications: Knowing the intervention aspects that parents view as most valuable allows targeted program modifications that reflect actual parent needs. Further understanding regarding the influence of holistic parent-implemented social communication interventions on child communication skills, parenting frustrations, and parent-child relationships is needed.

Exploring the association between social skills struggles and social communication difficulties and depression in youth with autism spectrum disorder.

Autism spectrum disorder is characterized by social communication difficulties and social skills abilities that are significantly differ from neurotypical populations as well as restricted and repetitive behaviors and interests. Furthermore, many autistic youth experience co-occurring conditions, with one of the most common being depression. This depression is suggested to be, in part, the result of the relative social isolation experienced by autistic youth. Therefore, it is important to examine social functioning differences in autistic youth and their association with depression. There has been limited research investigating the association between social communication difficulties and depression, or the association between social skills struggles and depression, and no research investigating both of these in the same population. We found that social communicative symptoms of autism (as measured by the Autism Diagnostic Observation Schedule) were not associated with depression scores (as measured by the Revised Checklist for Anxiety and Depression) after controlling for age, sex, and IQ. In contrast, we did find a significant association between social skills struggles (as measured by the Adaptive Behavior Assessment System-2) and depression in the same sample. Higher social skills struggles were associated with higher depression scores after controlling for age, sex, and IQ. Reasons for the potential discrepancy between these findings are discussed, and clinical implications of these findings are explored.

Time-efficient physical activity intervention for older adolescents with disability: rationale and study protocol for the Burn 2 Learn adapted (B2La) cluster randomised controlled trial.

INTRODUCTION: Physical activity declines during adolescence, with the lowest levels of activity observed among those with disability. Schools are ideal settings to address this issue; however, few school-based interventions have been specifically designed for older adolescents with disability. Our aim is to investigate the effects of a school-based physical activity programme, involving high-intensity interval training (HIIT), on physical, mental and cognitive health in older adolescents with disability. METHODS AND ANALYSIS: We will evaluate the Burn 2 Learn adapted (B2La) intervention using a two-arm, parallel group, cluster randomised controlled trial with allocation occurring at the school level (treatment or waitlist control). Secondary schools will be recruited in two cohorts from New South Wales, Australia. We will aim to recruit 300 older adolescents (aged 15-19 years) with disability from 30 secondary schools (10 in cohort 1 and 20 in cohort 2). Schools allocated to the intervention group will deliver two HIIT sessions per week during scheduled specialist support classes. The sessions will include foundational aerobic and muscle strengthening exercises tailored to meet student needs. We will provide teachers with training, resources, and support to facilitate the delivery of the B2La programme. Study outcomes will be assessed at baseline, 6 months (primary endpoint), and 9 months. Our primary outcome is functional capacity assessed using the 6 min walk/push test. Secondary outcomes include physical activity, muscular fitness, body composition, cognitive function, quality of life, physical literacy, and on-task behaviour in the classroom. We will also conduct economic and process evaluations to determine cost-effectiveness, programme acceptability, implementation, adaptability, and sustainability in schools. ETHICS AND DISSEMINATION: This study has received approval from the University of Newcastle (H-2021-0262) and the New South Wales Department of Education (SERAP: 2021257) human research ethics committees. Findings will be published in peer-reviewed journals, and key stakeholders will be provided with a detailed report following the study. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry Number: ACTRN12621000884808.

Research priorities of the autism community: A systematic review of key stakeholder perspectives.

LAY ABSTRACT: It has become very important in autism research to ask the autistic community about what kinds of research they think should be done in order to improve the lives of people with autism. Many studies have reported on research goals from people within the autism community, such as parents of people on the autism spectrum, and practitioners and clinicians who support people on the autism spectrum. So far, the research goals from all of these studies have not been considered together, which is important so that all autism research can be working towards the same goals. We reviewed seven studies that looked at the priorities for autism research from key people within the autism community. Each of the reviewed studies are described according to (a) the types of people involved in the study, (b) the way the research goals from each group of people were identified, (c) the country where they were from and (d) the most common research goals from across all of the studies. Within these seven studies, research that will lead to real-world changes in the daily lives of the autism community and a greater focus on skill training for people with autism across their lives were found to be very important. From this review, we found that it is also very important to include a range of different people from the autism community when deciding what autism research goals should be focused on so that future research can be more helpful for the autism community.

Applying the S-ART Framework to Yoga: Exploring the Self-Regulatory Action of Yoga Practice in Two Culturally Diverse Samples.

Mindfulness practices form the core of numerous therapeutic programs and interventions for stress reduction and the treatment of different health conditions related to stress and life habits. Ways and means to regulate oneself effectively also form the foundation of the path of yoga in the accomplishment of holistic health and well-being. The self-awareness, self-regulation, and self-transcendence (S-ART) model can be considered as an overarching neurobiological framework to explain the self-regulatory mechanisms of well-being present in mindfulness-based practices. The current study, by connecting and applying the S-ART framework to the self-regulatory mechanisms in yoga and generating related hypotheses, provides a theory-led explanation of the action of yoga practices, which is sparse in the literature. Testing the S-ART model in yoga in two culturally diverse samples, assessing the model-mapped psychological mechanisms of action, and exploring the influence of perseverance in yoga practice are the original contributions of this study. The study sample comprised 362 yoga practitioners and non-practitioners (197 Indian and 165 Spanish), who completed four tests of psychological variables indicative of the aforementioned three S-ART abilities. These tests were Multidimensional Assessment of Interoceptive Awareness (MAIA), Experiences Questionnaire-Decentering (EQ-D) subscale, Difficulties in Emotion Regulation Scale (DERS), and Relational Compassion Scale (RCS). The results indicated significantly better self-awareness and self-regulatory abilities in yoga practitioners (Indian and Spanish in a combination) than non-practitioners, reflected in higher levels of interoceptive awareness and decentering abilities. Moreover, perseverance in yoga practice acted as a significant predictor of self-awareness and self-regulation in practitioners. An analysis of each cultural sample revealed some differences. Yoga practice and perseverance in it acted as a significant predictor of interoceptive awareness and decentering in Indian practitioners having more than 1 year of sustained yoga practice, but for the Spanish participants, physical exercise and frequency of yoga practice acted as better predictors of interoceptive awareness and decentering in comparison to yoga practice and perseverance in it. The obtained results suggested that the S-ART model provided preliminary but promising evidence for the self-regulatory mechanisms of action in yoga practice within a culturally diverse sample of yoga practitioners. This study also widens the scope of generating further hypotheses using the S-ART theoretical framework for testing the self-regulatory mechanisms of action in yoga practice.

Corrigendum: Applying the S-ART Framework to Yoga: Exploring the Self-Regulatory Action of Yoga Practice in Two Culturally Diverse Samples.

[This corrects the article DOI: 10.3389/fpsyg.2021.585300.].

Using a Textual Prompt to Teach Multiword Requesting to Two Children With Autism Spectrum Disorder.

Autism spectrum disorder is characterized by social and communication impairment, but some children appear to have relative strength in areas such as reading printed words. The present study involved two children with limited expressive communication skills, but relatively stronger reading ability. Based on this existing strength, we evaluated a textual prompting procedure for teaching the children to produce multiword spoken requests. The effect of providing textual prompts on production of multiword requests was evaluated in an ABAB design. The results showed that multiword requests increased when textual prompts were provided and decreased when the prompts were removed. In subsequent phases, the textual prompts were successfully faded by gradually making the printed text lighter and lighter until eventually the prompts were eliminated altogether. We conclude that identification of children's strengths may assist in identifying effective prompting procedures that could then be used in teaching functional communication skills.

Systematic review of the effectiveness of behaviorally-based interventions for sleep problems in people with rare genetic neurodevelopmental disorders.

Sleep problems are prevalent in people with rare genetic neurodevelopmental disorders (RGND) and, in some cases, RGNDs are associated with specific forms of sleep disturbance that appear relatively unique. Although a notable amount of research has focused on behavioral intervention for sleep problems in people with higher incidence developmental disorders, research focused on potentially modifiable learning and environmental factors for people with RGND has received less attention. This review summarizes empirical evidence from studies providing behavioral interventions for sleep problems in RGND. A systematic search identified nine studies for inclusion. Studies were coded to extract data on participant characteristics, intervention components, dependent variables, research rigor and intervention effects. Study rigor was then evaluated using an established criteria and effects were classified as positive, neutral or mixed. Seven of the nine studies demonstrated positive treatment effects and two mixed results. In most studies, treatment consisted of multiple intervention components and were implemented by parents in the home. However, only three studies met criteria for an adequate level of rigor, thus greatly limiting certainty of conclusions. This review identifies current intervention practices and potential foci for future research.

Routine HIV Screening as a Standard of Care: Implementing HIV Screening in General Medical Settings, 2013-2015.

OBJECTIVE: We implemented routine HIV screening as part of the 4-year Care and Prevention in the United States Demonstration Project, whose aim was to reduce HIV/AIDS-related morbidity and mortality among racial/ethnic minority groups in the United States. We describe the capacity-building efforts to implement routine HIV screening and provide lessons learned and implications for practice. METHODS: From January 2013 through September 2015, the Public Health Institute of Metropolitan Chicago (PHIMC) implemented routine HIV screening in 7 health care systems in Illinois by providing capacity-building assistance focused on systems and operational infrastructure, staff member skills and organizational structure, and clinic culture. Each site received funding to integrate routine HIV screening into the existing clinic flow, engage the entire health care team in the process, and transform the system and shift clinic culture to sustain HIV screening. RESULTS: All 7 systems established policies and procedures to implement routine screening, 5 systems integrated HIV test ordering and documentation into their electronic health records, and 4 systems established a third-party billing and reimbursement process for testing. The 7 systems conducted a total of 49 285 tests and identified 160 people living with HIV. The number of tests increased by more than 40% each year. CONCLUSIONS: PHIMC identified the following practices for consideration when implementing routine HIV screening in general medical settings: create a culture that supports HIV screening, use champions in clinics, integrate HIV screening into clinic flow and electronic health records, and train clinic staff members on HIV messaging. Incorporating these practices can help other clinical settings build capacity to make routine HIV screening a standard of care.

Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper.

BACKGROUND: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. AIMS: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes. METHODS AND PROCEDURES: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies. In Part 2, RtN was assessed utilizing retrospective video analysis for infants later diagnosed with ASD, RTT, or FXS, and typically developing peers. OUTCOMES AND RESULTS: Given a variety of methodologies and instruments applied to assess RtN, 21/23 studies identified RtN as atypical in infants with a developmental disorder. We observed four different developmental trajectories of RtN in ASD, RTT, PSV, and FXS from 9 to 24 months of age. Between-group differences became more distinctive with age. CONCLUSIONS AND IMPLICATIONS: RtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification.

Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis.

This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings. This overview supports the use of RVA in analysing the early development of vocalisations in children later diagnosed with ASD, RTT or FXS, and provides an in-depth analysis of vocalisation presentation, complex vocalisation production, and the rate and/or frequency of vocalisation production across the three disorders. Implications are discussed in terms of extending crude vocal analyses to more precise methods that might provide more powerful means by which to discriminate between disorders during early development. A greater understanding of the early manifestation of these disorders may then lead to improvements in earlier detection.

Effect of 'Exercise Without Movement' yoga method on mindfulness, anxiety and depression.

OBJECTIVE: To analyze the effect of the 'Exercise Without Movement' (E.W.M) yoga method on mindfulness and on the improvement of anxiety and depression symptoms. METHODS: A quasi-experimental study examined the effect of one month E.W.M. intervention among 38 participants who were enrolled voluntarily to both groups, study (n = 16) and control (n = 22). Five participants dropped out during the study. The State Mindfulness Scale (SMS) was used to measure mindfulness. The Anxiety Inventory Beck (BAI) and the Beck Depression Inventory (BDI-II) were used to measure the anxiety and depression symptoms, respectively, before and after the intervention. RESULTS: Study group showed both a statistically significant increase in mindfulness and decrease in anxiety and depression symptoms, compared with the control group. CONCLUSIONS: The E.W.M. has been useful in the development of mindfulness and in the treatment of anxiety and depression symptoms and may represent a new method in the mindfulness-based therapeutic application.

Application of an integrative yoga therapy programme in cases of essential arterial hypertension in public healthcare.

OBJECTIVE: To examine the efficacy of an integrative yoga programme as adjuvant treatment of essential arterial hypertension. METHODS: An Integrative yoga programme was conducted during three months in 26 sessions with a group of ten essential arterial hypertension patients at a public health centre. The same number of patients acted as the control group without treatment. The patients were randomly selected and assigned to the groups. All patients filled in the Positive and Negative Affect Schedule (PANAS), the Hospital Anxiety and Depression Scale (HADS) and the Smith Relaxation States Inventory 3 (SRSI3) before and after the treatment. RESULTS: A statistically significant reduction of systolic and diastolic blood pressure, negative affect, symptoms of anxiety and degree of stress could be observed in the study group. CONCLUSIONS: These positive and promising results confirm the effectiveness of these techniques in the treatment of essential arterial hypertension and suggest possible further investigations.