Qualitative Exploration of the Daily Experiences and Challenges Faced by Parents and Caregivers of Children with Tourette's Syndrome.

This document is the Accepted Manuscript version of the following article: Amanda K. Ludlow, Rachel Brown, and Joerg Schulz, ‘A qualitative exploration of the daily experiences and challenges faced by parents and caregivers of children with Tourette’s syndrome’. The final, definitive version of this paper has been published in Journal of Health Psychology, September 2016, published by SAGE Publishing, All rights reserved. Copyright © 2016, © SAGE PublicationsFew studies address the daily challenges faced by parents of children diagnosed with Tourette’s syndrome. This article reports on a qualitative interview study with 15 parents exploring their experiences, the challenges they face and the support mechanisms they have found to be most helpful. Thematic analysis identified four core categories which represented shared experiences of the participants: coping with children’s challenging behaviours, misconceptions and lack of understanding of professionals and the lay public, negative experiences of their children’s education and lack of support and services for families with Tourette’s syndrome. The findings highlight the challenges of parenting a child with Tourette’s syndrome, particularly with respect to family life and the child’s schooling.Peer reviewedFinal Accepted Versio

In vivo expansion of functionally integrated GABAergic interneurons by targeted increase in neural progenitors.

A central hypothesis for brain evolution is that it might occur via expansion of progenitor cells and subsequent lineage-dependent formation of neural circuits. Here, we report in vivo amplification and functional integration of lineage-specific circuitry in Drosophila Levels of the cell fate determinant Prospero were attenuated in specific brain lineages within a range that expanded not only progenitors but also neuronal progeny, without tumor formation. Resulting supernumerary neural stem cells underwent normal functional transitions, progressed through the temporal patterning cascade, and generated progeny with molecular signatures matching source lineages. Fully differentiated supernumerary gamma-amino butyric acid (GABA)-ergic interneurons formed functional connections in the central complex of the adult brain, as revealed by in vivo calcium imaging and open-field behavioral analysis. Our results show that quantitative control of a single transcription factor is sufficient to tune neuron numbers and clonal circuitry, and provide molecular insight into a likely mechanism of brain evolution

Bicistronic Lentiviruses Containing a Viral 2A Cleavage Sequence Reliably Co-Express Two Proteins and Restore Vision to an Animal Model of LCA1

The disease processes underlying inherited retinal disease are complex and are not completely understood. Many of the corrective gene therapies designed to treat diseases linked to mutations in genes specifically expressed in photoreceptor cells restore function to these cells but fail to stop progression of the disease. There is growing consensus that effective treatments for these diseases will require delivery of multiple therapeutic proteins that will be selected to treat specific aspects of the disease process. The purpose of this study was to design a lentiviral transgene that reliably expresses all of the proteins it encodes and does so in a consistent manner among infected cells. We show, using both in vitro and in vivo analyses, that bicistronic lentiviral transgenes encoding two fluorescent proteins fused to a viral 2A-like cleavage peptide meet these expression criteria. To determine if this transgene design is suitable for therapeutic applications, we replaced one of the fluorescent protein genes with the gene encoding guanylate cyclase -1 (GC1) and delivered lentivirus carrying this transgene to the retinas of the GUCY1*B avian model of Leber congenital amaurosis – 1 (LCA1). GUCY1*B chickens carry a null mutation in the GC1 gene that disrupts photoreceptor function and causes blindness at hatching, a phenotype that closely matches that observed in humans with LCA1. We found that treatment of these animals with the 2A lentivector encoding GC1 restored vision to these animals as evidenced by the presence of optokinetic reflexes. We conclude that 2A-like peptides, with proper optimization, can be successfully incorporated into therapeutic vectors designed to deliver multiple proteins to neural retinal. These results highlight the potential of this vector design to serve as a platform for the development of combination therapies designed to enhance or prolong the benefits of corrective gene therapies

Needs assessment for the creation of a community of practice in a community health navigator cohort

Abstract Background Community Health Navigators (CHNs) are members of a patient’s care team that aim to reduce barriers in accessing healthcare. CHNs have been described in various healthcare settings, including chronic disease management. The ENhancing COMmunity health through Patient navigation, Advocacy, and Social Support (ENCOMPASS) program of research employs CHNs, who are trained to improve access to care and community resources for patients with multiple chronic diseases. With complex and demanding roles, it is essential that CHNs communicate with each other to maintain knowledge exchange and best practices. A Community of Practice (CoP) is a model of situated learning that promotes communication, dedication, and collaboration that can facilitate this communication. The objective of this study was to engage with CHNs to determine how a CoP could be implemented to promote consistency in practices and knowledge for CHNs across primary care sites. Methods A needs assessment for a CHN CoP was conducted using sequential steps of inquiry. A preliminary focused literature review (FLR) was done to examine the ways in which other healthcare CoPs have been implemented. Results from the FLR guided the creation of an exploratory survey and group interview with key informants to understand best approaches for CoP creation. Political, economic, social, and technological (PEST) and strengths, weaknesses, opportunities, and threats (SWOT) analyses synthesized results in a comprehensive manner for strategic recommendations. Results The FLR identified different approaches and components of healthcare CoPs and guided analyses of mitigatable risk factors and leverageable assets for the intervention. The survey and group interview revealed an informal and effective CoP amongst current CHNs, with preferred methods including coffee meetings, group trainings, and seminars. A well-maintained web platform with features such as an encrypted discussion forum, community resource listing, calendar of events, and semi-annual CHN conferences were suggested methods for creating an inter-regional, formal CoP. Conclusion The study findings recognise the presence of an informal CoP within the studied CHN cohort. Implementation of a formal CoP should complement current CoP approaches and aid in facilitating expansion to other primary care centres utilizing digital communication methods, such as a comprehensive web platform and online forum

The Child Adolescent Bullying Scale (CABS): Psychometric evaluation of a new measure.

Abstract: While youth bullying is a significant public health problem, healthcare providers have been limited in their ability to identify bullied youths due to the lack of a reliable, and valid instrument appropriate for use in clinical settings. We conducted a multisite study to evaluate the psychometric properties of a new 22‐item instrument for assessing youths’ experiences of being bullied, the Child Adolescent Bullying Scale (CABS). The 20 items summed to produce the measure\u27s score were evaluated here. Diagnostic performance was assessed through evaluation of sensitivity, specificity, predictive values, and area under receiver operating characteristic (AUROC) curve. A sample of 352 youths from diverse racial, ethnic, and geographic backgrounds (188 female, 159 male, 5 transgender, sample mean age 13.5 years) were recruited from two clinical sites. Participants completed the CABS and existing youth bullying measures. Analyses grounded in classical test theory, including assessments of reliability and validity, item analyses, and principal components analysis, were conducted. The diagnostic performance and test characteristics of the CABS were also evaluated. The CABS is comprised of one component, accounting for 67% of observed variance. Analyses established evidence of internal consistency reliability (Cronbach\u27s α = 0.97), construct and convergent validity. Sensitivity was 84%, specificity was 65%, and the AUROC curve was 0.74 (95% CI: 0.69–0.80). Findings suggest that the CABS holds promise as a reliable, valid tool for healthcare provider use in screening for bullying exposure in the clinical setting

Home-based vibratory stimulation for chronic severe dysphagia (Kamarunas et al., 2022)

Purpose: Previously, externally placed vibratory laryngeal stimulation increased rates of swallowing in persons with and without dysphagia. This study examined the feasibility of using a vibratory device on the skin over the thyroid cartilage for home-based swallowing rehabilitation in long-standing dysphagia. Method: Only participants with long-standing dysphagia (> 6 months) following cerebrovascular accident or head/neck cancer who had not previously benefited from dysphagia therapy participated. The device had two modes used daily for 90 days. In automatic mode, participants wore the device when awake, which vibrated for 4–8 s every 5 min to trigger a volitional swallow. In manual mode, participants practiced by activating vibration while swallowing rapidly. Study-related adverse events, such as pneumonia, and device-recorded adherence were tracked. Swallowing function on a modified barium swallow study was assessed at baseline and after 3 months of device use. Outcome measures included the Dysphagia Outcome and Severity Scale (DOSS), Penetration–Aspiration Scale (PAS), and swallowing timing measures. Participants’ perceptions of the vibratory device and training were obtained. Results: The intent to treat analysis showed seven of 11 participants completed the study, all with severe chronic dysphagia. Of those seven participants completing the study, two developed respiratory complications (possibly due to pneumonia) that cleared after antibiotic intervention. For prescribed practice trials, adherence was 80% or greater in four of seven participants (57%) whereas prescribed automatic stimulations were met in only two of seven participants (29%). Three participants (43%) had a modest benefit on DOSS. The time to vestibule closure after the bolus passed the ramus was reduced in five participants (71%) on the modified barium swallow study. Conclusion: Overall, the results have indicated that intensive home-based practice with stimulation may provide limited functional benefits in severe chronic dysphagia. Supplemental Material S1. Participant survey on usability of device. Kamarunas, E., Mulheren, R., Wong, S. M., Griffin, L., & Ludlow, C. L. (2022). The feasibility of home-based treatment using vibratory stimulation in chronic severe dysphagia. American Journal of Speech-Language Pathology. Advance online publication. https://doi.org/10.1044/2022_AJSLP-22-00045</p