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BACKGROUND: Individuals with deafblindness experience a combination of hearing and vision impairments. The World Health Organization has developed a global framework referred to as the International Classification of Functioning, Disability and Health (ICF) to describe health and functioning. From the full ICF classification, a selection of categories, referred to as ICF Core Sets, provide users with a tool to describe functioning and disability in specific health conditions. There has been no ICF Core Set created for deafblindness. Given that core sets are instrumental in improving clinical practice, research, and service delivery, the aim of this study is to develop an ICF Core Set for deafblindness. METHODS: As part of the preparatory phase in the ICF Core Set development, there are four studies that will be conducted. This includes the [1] systematic literature review that examines the researcher's perspective, [2] qualitative study focusing on the individuals with deafblindness experience, [3] experts survey that looks at health professional's perspective, and [4] empirical study that examines the clinical perspective. The studies will be conducted using the principles outlined by the ICF Research Branch for the development of ICF Core Sets. The systematic literature review protocol was submitted for registration on PROSPERO CRD42021247952. DISCUSSION: An ICF Core Set created for deafblindness will benefit individuals living with deafblindness who are often excluded from social participation, policies, and services. An ICF Core Set for deafblindness will have a significant impact on healthcare professionals, policymakers, researchers, service providers and individuals with deafblindness by facilitating communication among all stakeholder to support the functioning of those with deafblindness.

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OBJECTIVE: To identify and describe the contextual factors that influence the participation of people with deafblindness in India. DESIGN: Qualitative study, using directed content analysis approach and the International Classification of Functioning, Disability and Health (ICF) as a framework to analyze the data. SETTING: Community and social participation settings. PARTICIPANTS: Community-dwelling individuals with deafblindness (N=16). Age ranges from 18-45 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Personal and environmental factors that influence the participation of individuals with deafblindness using the ICF framework. RESULTS: Results indicate that the age of onset and nature of impairment (deafblindness) and willingness to explain the condition (functional consequences of deafblindness) emerged as important personal factors. Access to resources such as assistive technology, social support, and deafblind-specific services were found to be enablers of participation. Lack of services, systems, and policies specific to deafblindness along with negative societal attitude toward disability were highly perceived environmental barriers that influence participation of people with deafblindness in India. CONCLUSIONS: Professionals must acknowledge aspects of the environment in conducting assessments and delivering interventions and understand the dynamic interactions between environment of the individual and his/her concurrent vision and hearing impairments. Approaches to enable participation require rehabilitation professionals to work with those with deafblindness to advocate for removal of environmental barriers and ensure provision of appropriate resources from the government to facilitate their participation. Social policy and government must ensure emphasis on awareness about deafblindness, access to deafblind-specific services, positive societal attitude, and opportunities for full participation for people with deafblindness in society.

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The human Usher syndrome (USH) is a complex, rare disease manifesting in its most common form of inherited deaf-blindness. Due to the heterogeneous manifestation of the clinical symptoms, three clinical types (USH1-3) are distinguished according to the severity of the disease pattern. For a correct diagnosis, in addition to the auditory tests in early newborn screening, ophthalmological examinations and molecular genetic analysis are important. Ten known USH genes encode proteins, which are from heterogeneous protein families, interact in functional protein networks. In the eye and in the ear, USH proteins are expressed primarily in the mechano-sensitive hair cells and the rod and cone photoreceptor cells, respectively. In the hair cells, the USH protein networks are essential for the correct differentiation of the hair bundles as well as for the function of the mechano-electrical transduction complex in the matured cell. In the photoreceptor cells, USH proteins are located in the ciliary region and participate in intracellular transport processes. In addition, a USH protein network is present in the so-called calyceal processes. The lack of calyceal processes and the absence of a prominent visual phenotype in the mouse disqualifies mice as models for studies on the ophthalmic component of USH. While hearing impairments can be compensated with hearing aids and cochlear implants, there is no practical therapy for USH in the eye. Currently, gene-based therapy concepts, such as gene addition, applications of antisense oligonucleotides and TRIDs ("translational readthrough inducing drugs") for the readthrough of nonsense mutations are preclinically evaluated. For USH1B/MYO7A the UshStat gene therapy clinical trial is ongoing.

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