Search Results (27)

Background/Objectives: People living with a spinal cord injury (PwSCI) present numerous complications at a systemic level that negatively impact their physical and mental health as well as their quality of life. The purpose of this study was to describe the clinical profile of PwSCI living in nursing homes (NHs), Complex Continuing Care Systems (CCCs), home care (HC), and inpatient mental health facilities (MHs) in nine Canadian provinces and territories. Methods: We analyzed data collected with the following assessment tools: Resident Assessment Instrument (RAI) Minimum Data Set (RAI-MDS 2.0), RAI–MH, RAI-HC, Cognitive Performance Scale, Activities of Daily Living (ADL) Hierarchy Scale and impairments in instrumental ADLs (IADLs), Pain Scale, Changes in Health, End-Stage Disease, Signs, and Symptoms (CHESS) Scale, Depression Rating Scale, and Deafblind Severity Index (DBSI). We reported counts (n) and percentages (%) and performed Chi-square tests with a Bonferroni correction to determine the statistical significance of the differences in frequencies within and between care settings. Results: We identified 13,136 PwSCI, predominantly males and younger than comparison groups. PwSCI presented fewer comorbidities but reported higher pain than comparison groups. Almost all of the PwSCI in NHs (99.4%) and CCCs (98.9%) needed assistance to perform ADLs. Conclusions: The prevalence of comorbidities and impairments following SCI varies based on the clinical setting. The present clinical profile of PwSCI will inform interventions to improve health of PwSCI across the continuum of care. Full article

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment and progressive vision loss due to rod-cone dystrophy. Although the original classification in three subtypes (USH I, USH II, and USH III) is still valid, recent findings have changed and widened perspectives in its classification, genotype–phenotype correlations, and management strategies: Objective: This study aims to provide new insights into the classification of Usher syndrome, explore the genotype-phenotype correlations, and review current and emerging management strategies. Methods: A comprehensive literature review has been conducted, incorporating data from clinical studies, genetic databases, and patient registries. Results: Recent studies have led to the identification of several novel pathogenic variants in the USH genes, leading to refined subclassifications of Usher syndrome. Interactions between different genes being part of the network of this ciliopathy have been investigated and new mechanisms unveiled. Significant correlations were found between certain genotypes and the presentation of both auditory and visual phenotypes. For instance, pathogenic variants in the MYO7A gene (USH1B) were generally associated with more severe hearing impairment and earlier onset of retinal dystrophy, if compared to other USH genes-related forms. Other genes, such as USH1G, traditionally considered as causing a specific subtype, can display phenotypic heterogeneity in some patients. Conclusions: This review provides insights into a better understanding of Usher syndrome that considers recent findings regarding its genetic causes and clinical features. Precise genotype–phenotype correlations can lead to better genetic counselling, more precise characterization of the natural history of the condition, and a personalized and effective management approach. Recent progress has been made in research into gene-specific therapies that appear promising for improving the quality of life for individuals affected by Usher syndrome. Full article

Educating deafblind children is a highly specialized field that requires computer-assisted learning tools to address the challenges of auditory and visual impairments. The objective is to reduce their difficulties in communication with their peers and to empower them to learn independently in a classroom environment. Braille and assistive tools have become profoundly beneficial for deafblind children, serving as an essential means of communication and knowledge acquisition, enabling them to live independently. This study aims to develop an assistive tool that bridges the limitations of conventional tactile methodologies by incorporating the latest artificial intelligence techniques, enabling children to learn with greater ease. The research leverages Morse code technology to facilitate communication with deafblind children. The speaker’s lip movements are converted into text using the deep learning techniques of a 3D convolutional neural network and a bidirectional long short-term memory neural network. Experimental evaluations of this text conversion model show a word error rate of 2% and an accuracy rate of 98%. The text is then converted into Morse code and communicated to the deafblind child through a wearable device. The significance of this assistive tool lies in its discreet design, resembling a smartwatch. Adolescents can wear the proposed wearable device confidently without feeling self-conscious or embarrassed. Full article

Background/Objectives: The World Federation of the Deafblind Global Report 2023 reports that many countries do not have a comprehensive identification, assessment, and referral system for persons with deafblindness, a combination of hearing and vision loss, across all age groups and geographic regions. The scan seeks to inform researchers, policymakers, and community-based organizations about the status of and gaps in sensory healthcare initiatives in Canada, with the intent to raise awareness to enhance the integration and coordination of eye and ear care services. Methods: We conducted an environmental scan of Canada’s healthcare system and current public health policies addressing vision and hearing care in Canada at the federal and provincial levels. The scan was conducted using published literature searches from five scientific databases—Embase, Medline, PsycINFO, PubMed, and CINAHL—in combination with the gray literature review of federal, provincial, and territorial governments and non-profit organizations’ websites from April 2011–October 2022. Out of 1257 articles screened, 86 studies were included that met the inclusion/exclusion criteria. In total, 13 reports were included in the gray literature search, with 99 total articles used in the analysis. Results: The thematic findings indicate stigma and discrimination toward individuals with disabilities and marginalized communities (Indigenous people, rural communities, recent immigrants, people of older age, and people with disabilities), including hearing, vision, or dual sensory loss, persist. Barriers to vision and hearing healthcare access include inadequate policies, underinvestment in vision and/or hearing services, limited collaboration and coordinated services between hearing and vision services, discrepancies in insurance coverages, and lack of health system support. Conclusions: This scan demonstrates the persisting barriers to vision and/or hearing services present in Canada, stemming from inadequate policy and limited service coordination. Future work to address gaps, evaluate public education, and develop integrated sensory healthcare initiatives to enhance coordinated eye and ear care services, as recommended in the WHO Report on Hearing and Vision, is imperative. Full article

The case of Hellen Keller presents a great example of what a learner who is deafblind can achieve if provided with the appropriate educational accommodation in terms of content, environment, learning approach, instructional strategies, and teaching methodologies. However, access to education is not the reality for most learners who are deafblind due to their unique educational needs, owing to their dual sensory impairment. There has been an assertion that learners who are deafblind may not thrive in inclusive educational spaces, but there is a paucity of research to support or dispute this assertion. This scoping review explored what is documented in the literature on the barriers and facilitators to inclusive education for learners who are deafblind. A scoping review methodology using Arksey and O’Malley’s framework was employed. A search was conducted using six databases, including Science Direct, PubMed, Scopus Medline, ProQuest and gray literature, to identify publications focusing on the barriers and facilitators to inclusive education for learners who are deafblind. The findings from the scoping review suggest that the factors that influence the inclusion of learners who are deafblind in inclusive educational settings include the availability of educational settings; accessibility to the physical and social environment, and assistive devices; acceptability by peers and educators and the preparedness of educators; and the adaptability of classroom strategies. For learners who are deafblind to thrive in inclusive educational settings, transformational attitudes and intentional and specific strategies from multiple stakeholders are necessary. Therefore, the educational system, schools, peers and communities should be deliberate in putting in place specialized support and resources to accommodate the diverse needs of learners who are deafblind in all phases of their schooling life. Full article

During the COVID-19 pandemic, many DeafBlind children were left without access to educational services when schools went remote. This article presents findings from a project that brought DeafBlind adults into the homes of DeafBlind children during a historically unprecedented time, when a new language was emerging among DeafBlind people who call themselves “Protactile”. In analyzing interactions between the DeafBlind adults and children, we have gained new insights into how novel communication channels are forged intersubjectively. We focus our analysis on Jelica, a DeafBlind member of the research team and experienced Protactile educator, and her interactions with two DeafBlind children. Grounding her extensive field notes in an anthropological theory on intersubjectivity, her insights show how they gradually became attuned to each other and their environment, thereby laying the foundation for intention attribution and joint attention. Jelica does this, in part, via frequent use of “Protactile taps”, which have attention-modulating and demonstrative functions among adults. Jelica’s taps perform a “meta-channel” function to direct the child to use particular parts of their bodies for communication and exploration. This study shows how Jelica establishes an operable environment, within which the vocabulary and grammar she exposes them to will take on situated meaning. This research builds on previous work on language emergence by showing that both children and adults contribute to language emergence as they adjust to one another in the unfolding of interaction. Finally, this research calls attention to the need for DeafBlind adults to have institutional authority to shape communication practices for DeafBlind children. Full article

Gaps abound in the literature about what happens when people living with deafblindness or dual sensory impairment (DBDSI) go to the hospital. Anecdotally, from my lived experiences and professional work, as well as from within communities, stories are told about how hazardous it is to be a patient in an Australian hospital for those living with DBDSI. This paper outlines a quantitative component of a mixed-methods study examining the intricacies of these experiences. The research objective was to discover what hospital interactions looked like for patients living with DBDSI. A constrained question set was used, namely, the Australian hospital experience question set (AHPEQS 2017). It asked patients about key factors in their hospital interactions. The results form a distressing snapshot of care and communication interactions. Experiences of flouting protective conventions, dehumanisation, neglect, discrimination, disparate care, inaccessible consent forms, and a lack of communication predominate. The participants reported experiences from multiple different hospitals, so these findings suggest a broad culture of failing to provide patient-centred care and accessible-to-the-patient communication. The findings showcase the urgency for more research and remedial actions to be undertaken by both professionals and institutions. Full article

Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves three main features: sensorineural hearing loss, retinitis pigmentosa (RP), and vestibular impairment. With a prevalence of 4–17/100,000, it is the most common cause of deaf-blindness worldwide. Genetic research has provided crucial insights into the complexity of US. Among nine confirmed causative genes, MYO7A and USH2A are major players in US types 1 and 2, respectively, whereas CRLN1 is the sole confirmed gene associated with type 3. Variants in these genes also contribute to isolated forms of hearing loss and RP, indicating intersecting molecular pathways. While hearing loss can be adequately managed with hearing aids or cochlear implants (CIs), approved RP treatment modalities are lacking. Gene replacement and editing, antisense oligonucleotides, and small-molecule drugs hold promise for halting RP progression and restoring vision, enhancing patients’ quality of life. Massively parallel sequencing has identified gene variants (e.g., in PCDH15) that influence CI results. Accordingly, preoperative genetic examination appears valuable for predicting CI success. To explore genetic mutations in CI recipients and establish correlations between implant outcomes and involved genes, we comprehensively reviewed the literature to gather data covering a broad spectrum of CI outcomes across all known US-causative genes. Implant outcomes were categorized as excellent or very good, good, poor or fair, and very poor. Our review of 95 cochlear-implant patients with US, along with their CI outcomes, revealed the importance of presurgical genetic testing to elucidate potential challenges and provide tailored counseling to improve auditory outcomes. The multifaceted nature of US demands a comprehensive understanding and innovative interventions. Genetic insights drive therapeutic advancements, offering potential remedies for the retinal component of US. The synergy between genetics and therapeutics holds promise for individuals with US and may enhance their sensory experiences through customized interventions. Full article

Pre-mRNA splicing is an essential process orchestrated by the spliceosome, a dynamic complex assembled stepwise on pre-mRNA. We have previously identified that USH1G protein SANS regulates pre-mRNA splicing by mediating the intranuclear transfer of the spliceosomal U4/U6.U5 tri-snRNP complex. During this process, SANS interacts with the U4/U6 and U5 snRNP-specific proteins PRPF31 and PRPF6 and regulates splicing, which is disturbed by variants of USH1G/SANS causative for human Usher syndrome (USH), the most common form of hereditary deaf–blindness. Here, we aim to gain further insights into the molecular interaction of the splicing molecules PRPF31 and PRPF6 to the CENTn domain of SANS using fluorescence resonance energy transfer assays in cells and in silico deep learning-based protein structure predictions. This demonstrates that SANS directly binds via two distinct conserved regions of its CENTn to the two PRPFs. In addition, we provide evidence that these interactions occur sequentially and a conformational change of an intrinsically disordered region to a short α-helix of SANS CENTn2 is triggered by the binding of PRPF6. Furthermore, we find that pathogenic variants of USH1G/SANS perturb the binding of SANS to both PRPFs, implying a significance for the USH1G pathophysiology. Full article

Historically, the field of deaf education has revolved around language planning discourse, but little research has been conducted on Deaf and Hard of Hearing (DHH) students with additional disabilities as dynamic multilingual and multimodal language users. The current study focuses on the language planning process at a school serving DHH and Deaf–Blind students with varied additional disabilities. A previous Total Communication philosophy at the school was implemented in practice as Simultaneous Communication (SimCom) and later revised as a multimodal-multilingual approach with the goal of separating American Sign Language (ASL) and English and using multimodal communication such as tactile ASL and Augmentative and Alternative Communication (AAC). To implement this philosophy without reverting back to SimCom, the school employed a language planning process using action research to reflect on cycles of improvement. A grounded theory approach was used to identify and analyze themes over a three-year period of language planning and professional development in multimodal communication. Triangulated data includes language planning artifacts and an online survey of staff perceptions—analyzed by coding concepts and categories, relating concepts to define translanguaging mechanisms and attitudes, and developing an overarching theory on how a school values translanguaging after 3 years of valuing complete access to language. In the context of a multilingual, multimodal language planning cycle, developing a shared language ideology guided by how Deaf, DeafBlind, and Deaf-Disabled (DDBDD) people use language emerged as an overarching theme that promoted dynamic languaging and understanding of strategies for effective communication. Full article

This review considers research into the treatment of Usher syndrome, a deaf-blindness syndrome inherited in an autosomal recessive manner. Usher syndrome mutations are markedly heterogeneous, involving many different genes, and research grants are limited due to minimal patient populations. Furthermore, gene augmentation therapies are impossible in all but three Usher syndromes as the cDNA sequence exceeds the 4.7 kb AAV packaging limit. It is, therefore, vital to focus research efforts on alternative tools with the broadest applicability. The CRISPR field took off in recent years following the discovery of the DNA editing activity of Cas9 in 2012. New generations of CRISPR tools have succeeded the original CRISPR/Cas9 model to enable more sophisticated genomic amendments such as epigenetic modification and precise sequence alterations. This review will evaluate the most popular CRISPR tools to date: CRISPR/Cas9, base editing, and prime editing. It will consider these tools in terms of applicability (in relation to the ten most prevalent USH2A mutations), safety, efficiency, and in vivo delivery potential with the intention of guiding future research investment. Full article

Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every 20 to 25 years, and thus placement should be minimally invasive. Furthermore, failed reimplantation surgery will have more impact on a deafblind person. In this context, we assessed the safety of minimally invasive robotically assisted cochlear implant surgery (RACIS) for the first time in a deafblind patient. Standard pure tone audiometry and speech audiometry were performed in a patient with deafblindness as part of this robotic-assisted CI study before and after surgery. This patient, with an optic atrophy 1 (OPA1) (OMIM#165500) mutation consented to RACIS for the second (contralateral) CI. The applicability and safety of RACIS were evaluated as well as her subjective opinion on her disability. RACIS was uneventful with successful surgical and auditory outcomes in this case of deafblindness due to the OPA1 mutation. RACIS appears to be a safe and beneficial intervention to increase communication skills in the cases of deafblindness due to an OPA1 mutation. The use of RACIS use should be widespread in deafblindness as it minimizes surgical trauma and possible failures. Full article

Inherited retinal degenerations are a leading cause of blindness in the UK. Significant advances have been made to tackle this issue in recent years, with a pioneering FDA approved gene therapy treatment (Luxturna^®), which targets a loss of function mutation in the RPE65 gene. However, there remain notable shortcomings to this form of gene replacement therapy. In particular, the lack of viability for gene sequences exceeding the 4.7 kb adeno-associated virus (AAV) packaging limit or for toxic gain of function mutations. The USH2A gene at ~15.7 kb for instance is too large for AAV delivery: a safe and effective vehicle capable of transducing photoreceptor cells for gene replacement therapy. Usher Syndrome is a clinically and genetically heterogenous deaf-blindness syndrome with autosomal recessive inheritance. The USH2A gene encodes the protein usherin, which localises to the photoreceptor cilium and cochlear hair cells. Mutations in the USH2A gene cause Usher Syndrome type II (USH2), which is the most common subtype of Usher Syndrome and the focus of this review. To date, researchers have been unable to create an efficient, safe editing tool that is small enough to fit inside a single AAV vector for delivery into human cells. This article reviews the potential of CRISPR technology, derived from bacterial defence mechanisms, to overcome these challenges; delivering tools to precisely edit and correct small insertions, deletions and base transitions in USH2A without the need to deliver the full-length gene. Such an ultra-compact therapy could make strides in combating a significant cause of blindness in young people. Full article

It is estimated that at least 15 million people worldwide live with severe deaf-blindness, with many more experiencing varying degrees of deaf-blindness. The existing options of assistance are mostly limited to walking canes, guide dogs and human care. We propose a wearable device which harnesses a multi-antenna mmWave radar transceiver and a haptic feedback array for real time detection of a person moving within a scene. We present our findings from a series of workshops with participants classed with multi-sensory impairments (MSI), to demonstrate the relative success of this approach and its potential for integration into existing assistance for the MSI of the future. Full article

The very large G protein-coupled receptor (VLGR1, ADGRV1) is the largest member of the adhesion GPCR family. Mutations in VLGR1 have been associated with the human Usher syndrome (USH), the most common form of inherited deaf-blindness as well as childhood absence epilepsy. VLGR1 was previously found as membrane–membrane adhesion complexes and focal adhesions. Affinity proteomics revealed that in the interactome of VLGR1, molecules are enriched that are associated with both the ER and mitochondria, as well as mitochondria-associated ER membranes (MAMs), a compartment at the contact sites of both organelles. We confirmed the interaction of VLGR1 with key proteins of MAMs by pull-down assays in vitro complemented by in situ proximity ligation assays in cells. Immunocytochemistry by light and electron microscopy demonstrated the localization of VLGR1 in MAMs. The absence of VLGR1 in tissues and cells derived from VLGR1-deficient mouse models resulted in alterations in the MAM architecture and in the dysregulation of the Ca²⁺ transient from ER to mitochondria. Our data demonstrate the molecular and functional interaction of VLGR1 with components in MAMs and point to an essential role of VLGR1 in the regulation of Ca²⁺ homeostasis, one of the key functions of MAMs. Full article