Using intervention mapping to develop an intervention for multiparty communication with people with congenital deafblindness.

BACKGROUND: Due to their dual sensory impairment, people with congenital deafblindness (CDB) are rarely naturally involved in other people's conversations. Their communication partners find it challenging to include them in group conversations. However, overhearing others communicate is important for developing social and communication skills. Hence, we developed an intervention program to guide communication partners in offering multiparty communication to people with CDB. This article describes how the program was developed through an intervention mapping approach. METHOD: Intervention mapping is a six-step process: logic model, model of change, program design, program production, program implementation plan, and evaluation plan. These six steps were applied to systematically develop a program to foster multiparty communication in people with CDB. Representatives of the involved groups participated in the project group and the working group to ensure feasibility and acceptability. RESULTS: Following the intervention mapping steps resulted in creation of a program for communication partners that consists of an education session, practicals, and four video-feedback sessions. Information sessions for practitioners and managers were also developed. The program was implemented incrementally with program implementers in each organization. A subjective evaluation and an impact evaluation were done after each implementation phase. DISCUSSION: Intervention mapping was used to develop a program that connects theory to practice. The program appeared to meet the communication partners' needs and be feasible in terms of time investment. This article offers suggestions for broadening the scope of the program to other settings and for further investigating the effects of the program on the social and communication skills of people with CDB.

Development of core sets for deafblindness: an international expert survey on functioning and disability of individuals living with deafblindness using the International Classification of Functioning, Disability, and Health.

BACKGROUND: The development of International Classification of Functioning, Disability, and Health (ICF) Core Sets greatly enhances the global recognition of health conditions, thereby advancing research, education, and care provision. Aside from the work of researchers, and the viewpoint of persons with lived experience, the development of Core Sets for deafblindness needs to include the viewpoints of professionals with expertise unique to this condition. AIM: To represent the perspective of health and social service expert professionals in the development of ICF Core Sets for deafblindness. DESIGN: Cross-sectional cohort study. SETTING: Global online survey representing all six regions of the World Health Organization. POPULATION: One hundred and five professionals providing and health or social service to individuals living with deafblindness with a minimum of 2 years of work experience with this population. METHODS: An online survey was distributed through professional networks and social media for individuals working with persons living with deafblindness. Demographic items were summarized using descriptive statistics. Six open-ended questions explored the perceptions of body functions and structures that influence activities and participation, as well as environmental and personal factors that facilitate functioning. Data were linked to the ICF codes using established linking rules and procedures. RESULTS: The 2934 survey response units were linked using IFC categories. Of the 421 unique categories, 133 were used by 5% or more of respondents. Most categories within the Activities and Participation component were equally emphasized. The most frequent Environmental factors were support and relationships, services, systems, and policies, as well as and the physical environment (e.g., hearing aids or noise). Mental functions, including higher level cognitive functions, temperament and personality were frequently emphasized. CONCLUSIONS: Almost three quarters (73.3%) of the entire ICF classification categories were included in the expert survey results. This proportion emphasizes the importance of a multidimensional tool, such as the ICF, for assessing functioning and health for persons with deafblindness. CLINICAL REHABILITATION IMPACT: The representation of this professional perspective in Core Set development will improve standardized assessment and documentation, intervention planning, and facilitate interprofessional communication with the goal of improving person-centered care for persons living with deafblindness.

Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

PURPOSE: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions. METHODS: A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues. RESULTS: Both measures showed comprehensive executive dysfunctions within the population, which were largely unrelated to deafblindness. Working memory stood out as a strength within the executive domain and the only factor presenting results within the normal range. Verbal working memory was a particular cognitive resource for participants with deafblindness, and, unlike those without deafblindness, unrelated to sensorimotor functions. CONCLUSIONS: Individuals with CHARGE syndrome appear to be at risk for underdeveloped executive functions due to neurogenetic and environmental factors. Performance-based measures and ratings from caregivers gave unique and complementary knowledge and implied the need of both when investigating executive functioning in CHARGE syndrome. Participants with deafblindness presented strong verbal working memory despite their auditory impairments, indicating effective compensatory mechanisms The results also indicated an untapped cognitive potential in both subgroups. Because of their relatively advanced working memory significantly correlating with global cognition, the environment should assume equal learning potential of individuals with CHARGE syndrome regardless of their degree of sensory impairments.

Molecular regulatory mechanism of human myosin-7a.

Myosin-7a is an actin-based motor protein essential for vision and hearing. Mutations of myosin-7a cause type 1 Usher syndrome, the most common and severe form of deafblindness in humans. The molecular mechanisms that govern its mechanochemistry remain poorly understood, primarily because of the difficulty of purifying stable intact protein. Here, we recombinantly produce the complete human myosin-7a holoenzyme in insect cells and characterize its biochemical and motile properties. Unlike the Drosophila ortholog that primarily associates with calmodulin (CaM), we found that human myosin-7a utilizes a unique combination of light chains including regulatory light chain, CaM, and CaM-like protein 4. Our results further reveal that CaM-like protein 4 does not function as a Ca2+ sensor but plays a crucial role in maintaining the lever arm's structural-functional integrity. Using our recombinant protein system, we purified two myosin-7a splicing isoforms that have been shown to be differentially expressed along the cochlear tonotopic axis. We show that they possess distinct mechanoenzymatic properties despite differing by only 11 amino acids at their N termini. Using single-molecule in vitro motility assays, we demonstrate that human myosin-7a exists as an autoinhibited monomer and can move processively along actin when artificially dimerized or bound to cargo adaptor proteins. These results suggest that myosin-7a can serve multiple roles in sensory systems such as acting as a transporter or an anchor/force sensor. Furthermore, our research highlights that human myosin-7a has evolved unique regulatory elements that enable precise tuning of its mechanical properties suitable for mammalian auditory functions.

The Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss.

Inherited forms of blindness and deafness are highly prevalent and severe conditions that significantly impact the lives of millions of people worldwide. The lack of therapeutic options for these conditions poses a major socioeconomic burden. Over the last decades, gene therapy has proven to be a life changing treatment for hereditary and acquired forms of diseases, and extensive preclinical investigation in animal models of both retinal and inner ear disorders has highlighted promising translational opportunities for these disorders too. This led to dozens of clinical trials investigating the efficiency of gene therapy-based approaches, with some of the products for retinal conditions successfully reaching phase III of development or even market authorization. However, challenges remain for the use of gene therapy, which are related to both the features of the delivery vehicles currently available and characteristics of the retinal and inner ear disorders targeted. Therefore, further developments in gene therapy platforms' design, including exploitation of novel technologies such as genome editing, RNA-targeted therapies, and optogenetics, are actively ongoing, driving the field forward. In this study, we review the ongoing applications and achievements of gene therapy for treatment of inherited forms of blindness and deafness as well as the developments that are being pursued in the field to overcome the current limitations.

The International Classification of Functioning, Disability and Health Core Set for deafblindness. Part I: a systematic review of outcome measures.

INTRODUCTION: The International Classification of Functioning, Disability, and Health (ICF), developed by the World Health Organization, is a classification framework that focuses on the health and functioning of people with disabilities. As part of an ICF Core Set development, four studies need to be conducted, one of which is a systematic review. This study presents part 1 of the systematic review that aims to describe the outcome measures identified in the literature related to functioning in individuals with deafblindness. EVIDENCE ACQUISITION: The research team screened articles from eight scientific databases, three journals, and Google Scholar (March 2011 to September 2022). Articles were included if they studied individuals with deafblindness aged 18 and older. Studies that examined genetics or laboratory experiments involving animals were excluded. Data were extracted into a logbook with key descriptors such as study location and design, age of study population, and instruments/outcome measures used, which were further categorized into one of the following types: 1) standardized; 2) patient-reported measures, standardized (PT-S); 3) patient-reported measures, not standardized (PT-not S); 4) health professional, reported measures, standardized (HP-S); 5) Technical measures; 6) other measures (parent-reported standardized and laboratory measures). EVIDENCE SYNTHESIS: The review included 147 studies, of which most were conducted in Europe (47.6%) and North America (27.9%). Of the 314 identified outcome measures, 57 were Standardized, 59 were Patient Reported-Standardized (PT-S), 178 were patient reported non-standardized (PT-Not S) variables, 11 were health professional reported, standardized, five were technical, and four were classified as other measures. CONCLUSIONS: Most instruments measured functioning in daily activities and the mental health of individuals with deafblindness. Three deafblind-specific instruments were identified in this study, highlighting the need for more deafblind-specific instruments to be developed and utilized in research.

Assessing the pool activity level (PAL) checklist for use with people with hearing and vision loss.

BACKGROUND: The PAL is a career-completed assessment that indexes cognitive functional ability to inform individualised support. As hearing and vision loss are prevalent, we assessed the PAL for potential bias with hearing or vision impairment. METHODS: We collected PAL responses for 333 adults aged over 60 years in the UK, France, Canada, Greece and Cyprus. All participants had normal cognition based on self-reported status and normal range scores on a cognitive screening test. Using a Kruskal-Wallis test, we compared PAL item response distributions for people with assessed hearing or vision loss compared to those with normal sensory function. RESULTS: There were no differences in response distributions between hearing or vision impaired groups versus those with normal sensory function on any PAL item. CONCLUSION: The PAL reliably indexes cognitive functional ability and may be used to inform support tailored to individual cognitive level amongst older adults with prevalent hearing and vision impairments.

Is there a correlation between sensory impairments and social isolation in middle-aged and older Chinese population? Cross-sectional and longitudinal evidence from a nationally representative survey.

Purpose: The aim of this study is to investigate the cross-sectional and longitudinal associations between sensory impairments (SIs) including single vision impairment (SVI), single hearing impairment (SHI), and dual sensory impairments (DSI) with social isolation in the middle-aged and older Chinese population. Methods: Data were obtained from the China Health and Retirement Longitudinal Survey (CHARLS). In total, 11,674 Chinese older adults aged over 45 were included at baseline 2011, and 6,859 participants who accomplished all four interviews from 2011 to 2018 were adapted for longitudinal analyses. Sensory status and social isolation measurements including social disconnectedness and self-perceived loneliness were collected. Assessment of social disconnectedness included the number of types of social activities in which they participated and the frequency of such participation. Loneliness referred to the subjective perception of loneliness. Other covariates included socio-demographic characteristics, medical conditions, and lifestyle-related factors. The impacts of baseline sensory status on social disconnectedness and loneliness were assessed using univariate and multivariate generalized linear models. A generalized linear model with generalized estimation equations (GEE) was used to assess the association between time-varying sensory statuses with social disconnectedness or loneliness over 8 years after being adjusted with multi-confounding factors. Results: Participants with SIs had significantly higher levels of social disconnectedness and self-perceived loneliness, compared to those who were free of SI. All kinds of SIs were significantly associated with loneliness according to both cross-sectional and longitudinal data. The correlations between DSI and social disconnectedness or loneliness at baseline and over 8 years were also noticed. SHI was found to be significantly associated with both frequency and types of social activities according to cross-sectional data and with the frequency of social activity participation in longitudinal analysis. SVI was only associated with the types of social activities at baseline (all p-values < 0.05). Conclusion: Sensory impairments, especially dual sensory impairments, have explicitly detrimental effects on social isolation among the older Chinese population. Over time, single hearing impairment specifically jeopardizes their frequency rather than types of social activities participation.

Sensory impairments and subjective well-being status in middle-aged and older Chinese population: Cross-sectional and longitudinal analyses of a nationally representative survey.

Purpose: To investigate the impacts of sensory impairments (SIs) including single vision impairment (SVI), single hearing impairment (SHI) and dual sensory impairment (DSI) on subjective wellbeing measurements including life expectancy (LE), life satisfaction (LS) and self-rated health (SRH) in middle-aged and older Chinese population. Methods: We obtained data from the China Health and Retirement Longitudinal Survey (CHARLS). In total, 9,293 Chinese middle-aged and older adults aging over 45 were included at baseline 2011 in this study, and 3,932 participants who accomplished all 4 interviews from 2011 to 2018 were adapted for longitudinal analyses. Sensory status and subjective wellbeing measurements were collected. Other covariates included socio-demographic characteristics, medical condition and lifestyle-related factors. The impacts of baseline sensory status on LE, LS and SRH were assessed using univariate and multivariate logistic regression analyses. A linear regression analysis with generalized estimating equations (GEE) was used to assess the association between time-varying sensory statuses with LE, LS and SRH over 8 years after being adjusted with multi-confounding factors. Results: Participants with SIs had significantly lower level of LE, LS, and SRH, compared to those who were free of SI. All kinds of SIs were significantly associated with LE, LS, and SRH according to cross-sectional data. The correlations between SIs and LE or SRH over 8 years were also noticed. However, only SHI and DSI were found to be significantly associated with LS according to longitudinal data (all p values < 0.05). Conclusion: Sensory impairments had explicitly detrimental effects on subjective wellbeing status over time among middle-aged and older Chinese population.

Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness.

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.

Assistive technology for people with deafblindness in Southern Africa: a Delphi study exploring dimensions of impact.

PURPOSE: Assistive technology (AT) is a highly effective intervention to address the capability gap for people living with deafblindness. The My AT Outcomes Framework (MyATOF) is a novel Australian framework founded upon AT process principles and outcomes research. It guides stakeholders to articulate AT use according to 6 dimensions. MyATOF was developed as a data collection and knowledge translation tool. The use case of AT by people with deafblindness in Southern Africa was investigated in this study to determine the applicability of MyATOF dimensions to (a) people with deafblindness and (b) low- and middle-income countries. MATERIALS AND METHODS: Two online surveys, using the Delphi methodology, were undertaken with key stakeholders including people with deafblindness, family members, researchers, service providers, educators and advocates. An expert panel of 17 completed Phase 1, with 14 completing Phase 2. The WHO 5 Ps AT systems thinking model was used in data analysis. RESULTS: Respondents affirmed the validity of the dimensions of MyATOF for people with deafblindness in four Southern African countries. In-country barriers and constraints were identified as significantly impacting the capacity of AT users with deafblindness, to realize positive outcomes. CONCLUSIONS: The MyATOF dimensions show promise in their use with persons with deafblindness in Southern Africa, though further research is needed.IMPLICATIONS FOR REHABILITATIONThe impact of assistive technology and related supports can be evaluated across a number of dimensions including human rights, costs incurred and saved, consumer experience, and service delivery satisfaction.These dimensions of impact resonate across the two continents investigated to date, with contextual factors being considered.Variables influencing access to assistive technology across contexts can be understood through the WHO GATE five P's systems thinking model.Few tools place data capture and outcomes measurement in the hands of assistive technology users, but indications are that this is of value to consumers.

Understanding the perceptions and experiences of the deafblind community about digital games.

PURPOSE: Participation and accessibility issues faced by gamers with multi-sensory disabilities are themes yet to be fully understood by accessible technology researchers. In this work, we examine the personal experiences and perceptions of individuals with deafblindness who play games despite their disability, as well as the reasons that lead some of them to stop playing games. MATERIALS AND METHODS: We conducted 60 semi-structured interviews with individuals living with deafblindness in five European countries: United Kingdom, Germany, Netherlands, Greece and Sweden. RESULTS: Participants stated that reasons for playing games included them being a fun and entertaining hobby, for socialization and meeting others, or for occupying the mind. Reasons for stop playing games included essentially accessibility issues, followed by high cognitive demand, changes in gaming experience due their disability, financial reasons, or because the accessible version of a specific game was not considered as fun as the original one. CONCLUSIONS: We identified that a considerable number of individuals with deafblindness enjoy playing casual mobile games such as Wordfeud and Sudoku as a pastime activity. Despite challenging accessibility issues, games provide meaningful social interactions to players with deafblindness. Finally, we introduce a set of user-driven recommendations for making digital games more accessible to players with a diverse combination of sensory abilities.IMPLICATIONS FOR REHABILITATIONDigital games were considered a fun and entertaining hobby by participants with deafblindness. Furthermore, participants play games for socialization and meeting others, or for occupying the mind.Digital games provide meaningful social interactions and past time to persons with deafblindness.On top of accessibility implications, our findings draw attention to the importance of the social element of gaming for persons with deafblindness.Based on interviews, we introduce a set of user-driven recommendations for making digital games more accessible to players with a diverse combination of sensory abilities.

Pearls & Oy-sters: Sequential Bilateral Hearing and Vision Loss With Optic Disc Swelling Due to Sphenoid Bone Craniofacial Fibrous Dysplasia.

Bilateral optic disc swelling is a common finding but rarely associated with multiple cranial neuropathies. In this case, an 18-year-old man presented with subacute sequential hearing loss followed by subacute sequential visual loss. Clinical examination revealed bilateral optic disc swelling. Lumbar puncture revealed a normal opening pressure of 15 cmH2o. This case discusses a rare but important cause of bilateral optic disc swelling in the context of hearing loss, disequilibrium, and a normal CSF opening pressure. An overview of the literature is provided, and treatment options are discussed to guide further management of similar cases.

Interventions for children with deafblindness-An integrative review.

BACKGROUND: Deafblindness is a rare condition, and its prevalence has been reported to be approximately 1 in 27 000 new-borns worldwide. For individuals with deafblindness, lifelong interventions and support are needed to be able to develop communication, be active and preserve a good quality of life. Because little is known about what kind of support and interventions can be offered to children with deafblindness, the aim was to summarize and disseminate research findings regarding this topic. METHODS: Integrative review principles were employed. Systematic searches in eight databases and additional manual searches were conducted. The inclusion criteria were as follows: original studies published between 2000 and 2021 examining either interventions for children between 0 and 18 years of age with deafblindness or interventions aimed at children with deafblindness but offered to their relatives or professionals working with them. Studies on support for family members were also sought. Study characteristics were described, and key findings were synthesized into categories based on their similarities. RESULTS: Of the 6268 identified original studies, 32 were included. The key outcomes from the included studies were synthesized into three categories, with two categories illustrating the goal/intention of the intervention (social interaction and communication, motivation and participation) and one focusing on or identifying the action taken to benefit the child (adaptation of the educational environment). Social interaction and communication was the dominant category, covering 24 of the 32 included studies. CONCLUSIONS: This review concludes that there are a limited number of evaluated interventions for children with deafblindness. In many cases, the interventions were adapted to the individual child's needs, and most of them were found within the area of social interaction and communication. More research is needed to strengthen the level of evidence for interventions for children with deafblindness.

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

Interventions for adults with deafblindness - an integrative review.

PURPOSE: To compile the current research on interventions for rehabilitation aimed at adults (aged 18-65 years) with deafblindness. MATERIALS AND METHODS: A comprehensive search was conducted in eight databases. An additional manual search was also carried out. A total of 7049 unique references were initially identified, and after screening, 28 original scientific articles were included. The results from these articles were categorized based on limiting consequences of deafblindness: communication, orientation and to move around freely and safely and access to information, as well as to psychological adaptation to deafblindness. RESULTS: Fourteen of the included articles had their main focus on access to communication, ten on orientation and the ability to move around feely and safely, three on the opportunity to gain access to information, and one related to psychological adaptation to deafblindness. Most articles focused on technical devices, of which one-third were single case studies. CONCLUSION: There is a limited number of evaluated interventions for people with deafblindness. Most of the existing studies involved one to five participants with deafblindness, and only few studies involved a larger number of participants. More research with a larger number of participants are needed, which could be facilitated by international cooperation between practitioners and researchers.

ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.

We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic variants in the TIMM8A gene, including gene deletions and larger contiguous gene deletions. Some of the latter involve the neighboring gene BTK, resulting in agammaglobulinemia. By next-generation mate-pair sequencing we have mapped the chromosomal deletion breakpoints of one MTS case and three XLA-MTS cases and used breakpoint-spanning PCR to fine map the breakpoints by Sanger sequencing. Two of the XLA-MTS cases presented with large deletions (63.5 and 27.2 kb), and the junctional regions were characterized by long stretches of microhomology, indicating that the events have emerged through homologous recombination. Conversely, the MTS case exhibited a small 2 bp region of microhomology, and the regions were not characterized by extensive microhomology. The third XLA-MTS case had a more complex breakpoint, including a 59 bp inverted insertion, thus at least four breakpoints were involved in this event. In conclusion, mate-pair library generation combined with next-generation sequencing is an efficient method for breakpoint identification, also in regions characterized by repetitive elements.