30 Results Found

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 requ...

This article presents the first-year results of a project that aimed to explore the feasibility of using a braille display and a smartphone in society to improve face-to-face communication for a person living with deafblindness, using a simulated com...

Background/Objectives: The combination of hearing loss and visual impairment in a single patient strongly suggests a genetic aetiology. However, after conventional testing, a considerable proportion of deafblindness cases remain without a genetic dia...

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 ar...

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 m...

Deafblindness is a combined vision and hearing impairment, which results in difficulties with communication, information acquisition, orientation, and mobility. Access to information in accessible formats and communication support is crucial for indi...

This paper presents a glove designed to assess the viability of communication between a deaf-blind user and his/her interlocutor through a vibrotactile device. This glove is part of the TactileCom system, where communication is bidirectional through...

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 car...

Deafblindness is a unique and complex disability. Research on the needs and quality of life are scarce; as well as the lack of adequate knowledge, training and lack of qualified professionals to serve this group. All this justifies the sense and inte...

Deafblind persons’ perception and experiences are based on their residual auditive and visual senses, and touch. Their haptic exploration, through movements and orientation towards objects give blind persons direct, independent experience. Few...

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...

This paper presents a dual-function wearable device (Tacsac) with capacitive tactile sensing and integrated tactile feedback capability to enable communication among deafblind people. Tacsac has a skin contactor which enhances localized vibrotactile...

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...

Students who are Deaf with Disabilities (DWD) comprise an extremely heterogeneous population. Similar to students who are d/Deaf or hard of hearing (DHH), students who are DWD vary in terms of degree, type, and age at onset of hearing loss, amplifica...

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 visio...

Affordances in the home environment are critical to early motor development. Currently, the home environment has not been examined in children with deafblindness or severe disabilities. The present study examined differences in, and relationships bet...

Deaf-blindness, particularly in progressive conditions such as Usher syndrome, presents profound challenges to communication, independence, and access to information. Existing tactile communication technologies for individuals with Usher syndrome are...

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 an...

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of...

Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the...

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 chil...

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 li...

The very large G-protein-coupled receptor 1 (VLGR1/ADGRV1) is the largest member of the adhesion G-protein-coupled receptor (ADGR) family. Mutations in VLGR1/ADGRV1 cause human Usher syndrome (USH), a form of hereditary deaf-blindness, and have been...

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 t...

The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codo...

MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 families to date, none fro...

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 funct...

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 descr...

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. Altho...

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 co...