Identifying and Managing Hearing and Vision Loss in Older People in Care Homes: A Scoping Review of the Evidence.

BACKGROUND AND OBJECTIVES: Poor identification of sensory impairments in care homes can be due to multiple factors. This scoping review identifies and synthesizes the literature into the detection of hearing and vision loss in the care home environment, and the management of these sensory losses once identified. RESEARCH DESIGN AND METHODS: A scoping review methodology was used to identify primary research of any design published from 1985 to September 2018. Six electronic databases were searched, and articles were also sourced from reference lists, relevant charity organizations and published experts. RESULTS: Six electronic databases and multiple gray literature sources identified 51 articles for inclusion. The evidence confirmed that lack of knowledge in care home staff, poor management of assistive aids, unsuitable environment, lack of connections with optometrists and audiologists, underuse of effective screening tools, and the added complexity of assisting those with dementia are all barriers to effective practice. Conversely, flexible training programs, availability of a variety of assistive aids, simple screening tools, and adaptions to the environment are effective facilitators. DISCUSSION AND IMPLICATION: This review acknowledges that the barriers to identification and management of hearing and vision loss in care homes are multifaceted and that collaboration of multiple stakeholders is required to implement change and improve the residents' ear and eye care. Recommendations are offered to support more effective service provision tailored to meet the needs of people with sensory impairments living in care homes, and this could subsequently improve best practice.

[One case report of Mohr-Tranebjærg syndrome].

Summary A 4-year-old male patient was found poor development in hearing and speech, without family hereditary history. Hearing screening was failed at birth. From the age of 2, the patient showed poor response to sound and speech, but no audiological examination was carried out. After physical examination, no deformity was found in both ears, and the tympanic membranes were intact; the muscular tension was normal; and the visual acuity was normal. The acoustic immittance showed curve A; DPOAE showed that both ears passed; click ABR threshold was greater than 95 dB nHL, bone conduction was greater than 45 dB nHL; electrocochleogram was bilateral elicited. There were no malformations of cochlea and inner ear showed in temporal bone CT and internal auditory canal MRI. Gene detection indicated a mutation in TIMM8A gene of X chromosome. Combined with the patient's medical history, gene detection, audiological manifestations and imaging examination, the final diagnosis was Mohr-Tranebjærg syndrome, bilateral severe sensorineural hearing loss, and auditory neuropathy.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. This study aimed to identify the pathogenic gene variations in three Chinese families associated with predicted MTS with or without X-linked agammaglobulinaemia. METHODS: Otologic examinations, vestibular, neurological, optical and other clinical evaluations were conducted on the family members. Targeted genes capture combining next generation sequencing (NGS) was performed, and then Sanger sequencing was used to confirm the causative variation. RESULTS: A novel variation, c.232_233insCAAT, in TIMM8A was identified as the pathogenic variation in one Chinese family. This variation co-segregated with the most frequent phenotypic deafness and was absent in the 1000 Genomes Project, ExAC and 1751 ethnicity-matched controls. Clinically, otological examinations illustrated the typical postsynaptic auditory neuropathy for the proband without the symptoms of dystonia or optic atrophy. MRI demonstrated abnormal small cochlear symmetric nerves, while the vestibular function appeared to be less influenced. Furthermore, we found another two TIMM8A variations, the deletion c.133_135delGAG and a copy number variation (CNV) including the TIMM8A gene, in two independent case, when we performed NGS on an auditory neuropathy population. CONCLUSION: We identified two novel variations in the TIMM8A gene (c.232_233insCAAT and c.133_135delGAG) and a CNV including the TIMM8A gene in three independent Chinese families with predicted MTS. To our knowledge, this is the first report of TIMM8A variations being identified in a Chinese population. Our results enrich the variation spectrum of TIMM8A and clinical heterogeneity of MTS. Genetic detection and diagnosis is a powerful tool for better understanding and managing syndromic hearing impairments, such as MTS, before they become full-blown.

[The Usher Syndrome, a Human Ciliopathy]. / Das Usher-Syndrom, eine Ziliopathie des Menschen.

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.

National Provisions for Certification and Professional Preparation in Low-Incidence Sensory Disabilities: A 50-State Study.

A multimethod study examined the 50 U.S. states' preparation and licensure practices regarding students with low-incidence sensory disabilities (LISD). The researchers used document review and structured interviews with state education agency representatives. It was found that institutions of higher education (IHEs) in 38 states offer at least one LISD preparation program; 12 states offer no programs at all. Further, program intensity, a measure of state capacity to serve students with LISD, varies from 0 to about 3 programs per million state residents. States also differ by the regime used to qualify teaching candidates, using either licensure or endorsement. Nationally, being an LISD licensure regime is, all else being equal, negatively correlated with number of LISD programs. The findings suggest that many states lack the capacity to supply enough trained professionals to serve students with LISD. Recommendations are framed for states, national organizations, and IHEs.

Early Identification of Infants and Toddlers With Deafblindness.

Data from the 2014 National Center on Deaf-Blindness Count show that fewer than 100 infants and toddlers are currently identified with deaf-blindness across the United States and that identification rates for this population vary greatly from state to state. The author presents a key rationale for timely and accurate identification of early-onset deafblindness and of the challenges involved in current early identification practices. Health and educational providers play a vital role in efforts to understand the impact of deafblindness on early development, high-risk conditions, and diagnoses associated with pediatric deafblindness, as well as the warning signs of early-onset hearing and vision loss. Subsequent to diagnosis, medical treatments may be available to restore or augment sensory functioning. Therefore, early detection and identification of deafblindness should serve as a catalyst for prompt referral to appropriate early intervention services for both child and family.

Analysis of Interaction and Attention Processes in a Child With Congenital Deafblindness.

Children with deafblindness need support to be able to understand the world and to have access to information. The authors analyzed a dyad consisting of a child with congenital deafblindness and a specialized teacher. The study included participant observations and audiovisual recordings. It was found that the child showed attention to the teacher in activities involving music and rhythm. As potential forms of nonverbal communication, the child presented vocalization, touch, body contact, body movements, facial expressions, and tears. The teacher's forms of communication were verbal, touch, visual, rhythm, and sign language. It was concluded that a significant communication partner is essential to identify, interpret, and respond to attention and communicative behaviors. Use of other forms of communication must comply with individual characteristics so that the child with deafblindness can receive information from the environment through these senses and thus be guaranteed access to the world.

Perceptions of Social Networks by Adults Who Are Deafblind.

Findings are presented from a descriptive qualitative study of 10 adults who were deafblind who were interviewed about their social lives. Additional data were collected from a discussion board and e-mails from the study participants. Three findings emerged from the data: (a) Navigating adaptations was a significant part of socialization. (b) Gaps existed in work, family, and formal support networks.

Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.

BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported. OBJECTIVES: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years. METHODS: A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12. The patient presented with progressive segmental craniocervical dystonia with jaw-opening, tongue protrusion, retrocollis and gradual overflow including upper limb dystonia. Pharmacological therapy was ineffective. At the age of 17, the patient's condition deteriorated with the risk of developing a dystonic state. RESULTS: DBS-GPi implantation resulted in a striking improvement. The Burke-Marsden-Fahn Dystonia Rating Scale (BMFDRS) score improved from 75 points before the surgery to 10 points at 3 months after DBS-GPi implantation. Neurological examination at the age of 21 showed mild dystonic movements, mainly oromandibular dystonia (BMFDRS: 15 points). The clinical phenotype of our patient was consistent with Mohr-Tranebjaerg syndrome (MTS). We performed genetic analysis of the TIMM8A gene (the only gene in which mutations are known to cause MTS), but the result was negative; however, other potentially new mutations have to be considered. CONCLUSIONS: Based on our case with the longest reported follow-up of 4 years and 2 earlier reports, we advise to consider DBS-GPi in patients with DDS with unsatisfactory effect of pharmacological treatment.

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

OBJECTIVE: This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome. METHODS: The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced. RESULTS: We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had peripheral neuropathy. Based on haplotype analysis, the mutation is likely not a hot spot, but rather could be attributable to a common ancestor. CONCLUSION: This study shows that PHARC has phenotypic variability, even within a family, which is consistent with previous reports. Differential diagnosis of "deaf-blindness" diseases is crucial. Confirming the presence of associated symptoms is necessary for differentiating some deaf-blindness syndromes. In addition, mutation analysis is a useful tool for confirming the diagnosis.

Observing the behaviour and interactions of adults with congenital deafblindness living in community residences.

BACKGROUND: Adults with congenital deafblindness (CDB) have received little attention from researchers. In this study we examined the nature of interactions between adults with CDB and the staff who mediate their support, and investigated the reliability of an observation coding system, originally designed for observing adults with severe intellectual disability. METHOD: The behaviours of 9 adults with CDB, including their interactions with support staff from 2 community residences, were recorded and subsequently coded by 2 observers. RESULTS: Interrater reliability, measured using Cohen's k, was variable across the coding system. Adults with CDB were predominantly observed to be disengaged, with few observations of engagement according to the coding schedule's definition of engagement. Interactions between the residents and support staff were rare. CONCLUSION: The introduction of interventions designed for staff to promote resident engagement in social interaction is recommended.

Failure to detect deaf-blindness in a population of people with intellectual disability.

BACKGROUND: Early identification of deaf-blindness is essential to ensure appropriate management. Previous studies indicate that deaf-blindness is often missed. We aim to discover the extent to which deaf-blindness in people with intellectual disability (ID) is undiagnosed. METHOD: A survey was made of the 253 residents of an institute offering residential and occupational facilities for people with IDs. Data are included for the 224 individuals who were able to complete both auditory and visual assessments. Otoacoustic emissions were used to screen for hearing impairment; those who did not pass were assessed by behavioural audiometry. Visual acuity was assessed with one of the following: EH-Optotypes, LH-Optotypes, Teller Acuity Cards, Cardiff Acuity Cards or the Stycar Ball Vision Test. RESULTS: Prior to the study hearing impairment had been diagnosed in 12.5% of the 224 subjects, and visual impairment in 17%. Upon completion of the study these figures rose to 46% and 38.4% respectively. Deaf-blindness was diagnosed in 3.6% of the subjects before, and in 21.4% after, the study. Most (87.5%) of the deaf-blind individuals had profound ID. CONCLUSION: Deaf-blindness is most often not identified either by standard medical screening or by care staff. Individuals with this disability, however, require provision of special kinds of care. Four categories of deaf-blindness are proposed, according to the severity of sensory impairment in each modality. The tests used in this study are non-invasive and are appropriate for individuals with ID and children. Early and periodic screening for visual and hearing impairment in individuals with ID is recommended.

Differentiating characteristics of deafblindness and autism in people with congenital deafblindness and profound intellectual disability.

BACKGROUND: In persons with deafblindness, it is hard to distinguish autism spectrum disorders from several deafblind specific behaviours caused by the dual sensory impairments, especially when these persons are also intellectually disabled. As a result, there is an over-diagnosis of autism in persons who are deafblind leading to unsuitable interventions. METHODS: Autism as specified by the DSM-IV was studied in 10 persons with congenital deafblindness with profound intellectual disabilities. Behaviours of people with deafblindness and autism (n = 5) and of people with deafblindness without autism (n = 5) were observed in a semi-standardised assessment. RESULTS: All people with deafblindness showed impairments in social interaction, communication and language. In contrast to persons without autism, people with deafblindness and autism showed significantly more impairments in reciprocity of social interaction, quality of initiatives to contact and the use of adequate communicative signals and functions. No differences between the groups were found for quantity and persistence of stereotyped behaviour, quality of play and exploration and adequate problem-solving strategies. CONCLUSIONS: This study indicates that there are some possibilities to differentiate autism from behaviours specific for deafblindness. It also confirms the large overlap in overt behaviours between people with deafblindness and persons with autism.

Dual sensory loss: overview of problems, visual assessment, and rehabilitation.

This article provides an overview of some of the problems and possible solutions surrounding the neglected issue of combined vision and hearing deficits. The subject is treated by considering each subpopulation, ranging from those who have no residual vision or hearing to those with mild coexisting vision and hearing losses. An attempt is made to relate the different types of visual deficit to the likely problems encountered in real-life activities, such as communication and travel, among individuals who also have a hearing impairment. The assessment and appropriate referral of patients with these combined deficits is discussed, including the interpretation of visual test results and the importance of factors other than standard visual acuity. Speculation is offered on potential strategies and solutions for rehabilitation as well as the need for future research and improvements in service delivery.