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.

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.

Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants.

INTRODUCTION: A 28-year-old man presented with a history of sensorineural deafness since early childhood treated with bilateral cochlear implants (CIs). He showed signs of debilitating dystonia that had been present since puberty. Dystonic symptoms, especially a protrusion of the tongue and bilateral hand tremor, had not responded to botulinum toxin therapy. We diagnosed Mohr-Tranebjaerg syndrome (MTS). METHODS AND MATERIAL: Deep brain stimulation (DBS) of the bilateral globus pallidus internus was performed predominantly with stereotaxic computed tomography angiography guidance under general anesthesia. Electrophysiology was used to identify the target regions and to guide DBS electrode placement. RESULTS: In the immediate postoperative course and stimulation, the patient showed marked improvement of facial, extremity, and cervical dystonia. More than 2 years after implantation, his dystonic symptoms had dramatically improved by 82%. DISCUSSION: MTS is a rare genetic disorder leading to sensorineural deafness, dystonia, and other symptoms. The use of DBS for the dystonia in MTS was previously described but not in the presence of bilateral CIs. CONCLUSION: DBS in MTS may be a viable option to treat debilitating dystonic symptoms. We describe successful DBS surgery, despite the presence of bilateral CIs, and stimulation therapy over 2 years.

Availability of Mental Health Services for Individuals Who Are Deaf or Deaf-Blind.

A survey of state mental health agencies found that a majority have no specific policy or procedure regarding how to provide mental health services to persons who are deaf or who are deaf-blind. Agency representatives report that staff lack knowledge of how to provide mental health services to persons who are deaf-blind and the agencies lack qualified interpreters. They recommend training for social workers and counselors to address best practices in working with people who are deaf-blind concerning communication methods and strategies, physical interaction, cultural issues, everyday life, sensory deprivation, ethics, use of an interpreter, and other general issues.

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.

The State of Research on Communication and Literacy in Deafblindness.

In a synthesis of the research, the authors present findings from communication and literacy studies conducted with children and youth with deafblindness, ages 0-22 years, and published in peer-reviewed journals, 1990-2015. Findings are organized within the structure of the four aspects of communication: form, function, content, context. The studies implemented child-guided and systematic instructional approaches. Studies on form addressed tangible representations, gestures, pictures, and technologies to increase expressive communication rates, and included research focusing on specific functions. Most of the research on context addressed the coaching of adult communication partners to improve responsiveness. Research on communication by children who are deafblind has focused almost exclusively on improving expressive communication. Therefore, there is a need for research on receptive communication and comprehension. In the area of literacy, studies are needed on emergent literacy and reading and writing interventions for children who are deafblind.

Technology Implementation and Curriculum Engagement for Children and Youth Who Are Deafblind.

The authors discuss the research of education professionals concerned with children and youth with deafblindness, presenting three theoretical frameworks and models useful for integrating technology into learning environments: (a) UDL (universal design for learning; Meyer, Rose, & Gordon, 2014), (b) SETT (student, environment, task, tools; Zabala, 2005), (c) SAMR (substitution, augmentation, modification, redefinition; Puentedura, 2014). Although the promise of technology in teaching children and youth with deafblindness is undisputed, a review of the extant research shows that little guidance is available on what technology tools may be efficacious and how these tools should be implemented. In the absence of research and in an age of rapid technological innovation, the authors suggest that all students with deafblindness will benefit if professionals use assistive and instructional technology frameworks to provide these children and youth access to and engagement in equitable learning experiences in inclusive settings.

Communication and Language in Learners Who Are Deaf and Hard of Hearing With Disabilities: Theories, Research, and Practice.

Findings are presented from communication intervention research in three areas related to deafness with disability (DWD): D/deaf and hard of hearing (DHH) with (a) intellectual disability, (b) autism spectrum disorders, (c) deafblindness. Early identification, prevalence, theoretical perspectives, and evidence-based practices are discussed. Developmental theory, behavioral theory, and social-interactionism theory undergird many assessment and intervention practices in communication. The tri-focus framework and the four aspects of communication are useful frameworks. While communication research is a relative strength in the deafblindness field, a dire need exists for research in the other two DWD areas. Across all DWD areas there is a need for interventions addressing receptive language. Effective communication and language intervention can only occur when children who are DWD are identified early, placed in individually suitable classrooms with appropriately prepared professionals, and provided with services that build on their strengths and meet their needs.

Stimulating intersubjective communication in an adult with deafblindness: a single-case experiment.

Sensory disabilities may limit a person's development of intersubjectivity, that is, the awareness of self and other, which develops in conjunction with interpersonal communication. This study used intersubjectivity theory to test a new intervention called the High-Quality Communication (HQC) intervention for its effects on a young adult with congenital deafblindness and a developmental age of between 1.5 and 4 years. Three of his social partners were trained to support attunement and meaning making with him through education and video feedback. This study measured seven observation categories at three layers of intersubjective development during a baseline and two intervention phases: dyadic interaction, shared emotion, referential communication, meaning negotiation, shared meaning, declarative communication, and shared past experience. The participant's use of conventional communication was included as an additional category. Effects were observed in all observation categories from the baseline to the intervention phases. Further study of the effectiveness of the HQC intervention is recommended to test whether effects generalize across people and settings.

Using an adapted form of the picture exchange communication system to increase independent requesting in deafblind adults with learning disabilities.

The current study assessed the effectiveness of an adapted form of the Picture Exchange Communication System (PECS) in increasing independent requesting in deafblind adults with learning disabilities. PECS cards were created to accommodate individual needs, including adaptations such as enlarging photographs and using swelled images which consisted of images created on raised line drawing paper. Training included up to Phase III of PECS and procedures ensuring generalizations across individuals and contexts were included. The effects of the intervention were evaluated using a multiple baseline design across participants. Results demonstrated an increase in independent requesting with each of the participants reaching mastery criterion. These results suggest that PECS, in combination with some minor adaptations, may be an effective communicative alternative for individuals who are deafblind and have learning impairments.

Teaching conceptually referenced core vocabulary for initial augmentative and alternative communication.

Individuals with significant intellectual disabilities who use augmentative and alternative communication (AAC) often fail to acquire large vocabularies. To maximize the functionality of a small vocabulary, AAC users' initial vocabulary typically consists of words that can be used frequently across contexts and functions (i.e., core vocabulary). For many AAC users, core vocabulary often references concepts rather than concrete items. For individuals with severe intellectual disabilities, however, initial AAC vocabulary often consists of concretely referenced words instead. There is little evidence that these individuals can learn to use conceptually referenced words in initial AAC. A variation of a single subject multiple baseline design across four stimuli was used to demonstrate that an individual with severe intellectual disabilities could learn to use conceptually referenced words as an initial AAC vocabulary. As a result of the intervention (a modified PECS procedure), a 9-year-old boy with multiple disabilities, including intellectual disability and deaf-blindness, learned to make appropriate use of three conceptually referenced tactile symbols for the concepts of more, done, and new as an initial communication vocabulary.

Delirio paranoide de los ciegos (síndrome de Sanchís-Banús) / Paranoid delusion of the blind (Sanchís-Banús syndrome)

En 1915, Kraepelin describe el «delirio paranoide de los sordos y duros de oído» como un cuadro de reacción paranoide que se produce en situaciones de deprivación sensorial, y que asienta sobre una base disposicional o caracterial en sujetos con rasgos de inseguridad. En 1924, el psiquiatra español Sanchís Banús, profundizando en la nosología kraepeliniana, describe una nueva entidad similar que aparece en los ciegos. Se trata de 2 pacientes con ceguera adquirida que, bajo presiones ambientales, desarrollaron ideas delirantes de persecución (uno) y celotípicas (otro), con intentos suicidas en ambos casos y sin antecedentes psicopatológicos previos. El síndrome de Sanchís-Banús (SSB) se incorporará, a partir de aquí, como una entidad nosológica con personalidad propia en los tratados alemanes clásicos (p.ej., Bumke) y en los textos españoles fenomenológicos de referencia (Alonso-Fernández; Barcia, Ruiz-Ogara y López-Ibor Aliño; Barcia). No obstante, resulta llamativa la muy escasa bibliografía existente sobre el SSB en las bases de datos de raíz anglosajona, de forma similar a lo que sucede con el original «delirio paranoide de los sordos» de Kraepelin. Se presenta un caso de «delirio paranoide de los ciegos» o SSB, muy similar en su presentación a los pacientes originales descritos por el psiquiatra español, revisándose la ubicación nosológica del SSB y sus características clínicas y evolutivo-pronósticas a la luz de la bibliografía actual (AU)

In 1915, the «paranoid delusion of the deaf» was described by Kraepelin as a paranoid reaction which appeared in sensory impairment situations. This clinical presentation was based, following Kraepelin, on both the characterial disposition of the person and insecurity personality traits. In 1924, the Spanish psychiatrist Sanchís-Banús, looking further into Kraepelinian nosology, described a similar clinical presentation of paranoid reaction in blind people. Sanchís-Banús focused on two patients who became blind and who, due to environmental stress developed paranoid and jealousy delusional ideas. The patients did not have psychiatric backgrounds, and suicidal attempts were made in both cases. The so-called «Sanchís-Banús syndrome» (SBS) was mentioned in later classical German texts of Psychiatry (e.g., Bumke), and also in phenomenological Spanish books of that period (e.g., Alonso-Fernández; Barcia, Ruiz-Ogara & López-Ibor; Barcia). However, we must emphasize that there are references either SBS or the Kraepelinian «delusion of the deaf» in English language databases. We present a case-report of «paranoid delusion of the blind» (SBS), quite similar in its clinical characteristics to those of the original patients of Sanchís-Banús. The nosological, clinical, and prognostic features of SBS are discussed in light of the current literature (AU)

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections. The uric acid overproduction accompanying this combination of symptoms suggests that the patient presented with phosphoribosylpyrophosphate (PRPP) synthetase superactivity, but recurrent infections have not been associated with superactivity until now. However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss-of-function mutations, indicating that the patient reported here has an intermediate phenotype. Molecular modeling predicts that the p.Val142Leu change affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase. This finding is in line with the normal PRPP synthetase activity in fibroblasts and the absence of activity in erythrocytes of the present patient. We postulate that the overall effect of the p.Val142Leu change on protein activity is determined by the cell type, being a gain-of-function in proliferating cells and a loss-of-function in postmitotic cells. Our results show that missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites that are affected.

Virtual patient instruction for dental students: can it improve dental care access for persons with special needs?

An interactive, virtual-patient module was produced on compact disc (CD-ROM) in response to the critical need to increase dental students' clinical exposure to patients with developmental disabilities. A content development team consisting of dental faculty members, parents of children with developmental disabilities, an individual with a developmental disability, and educational specialists developed the interactive, virtual-patient module. The module focused on a young man with congenital deafblindness presenting as a new patient with a painful molar. Students were required to make decisions regarding clinical interactions throughout the module. Differences in both comfort and knowledge level were measured pre- and post-module completion, as well as the dental students' overall satisfaction with the learning experience. Significant results were obtained in students' perceived comfort and knowledge base. Participants reported overall satisfaction using the modules. This study demonstrated that an interactive, multi-media (CD-ROM), virtual patient learning module for dental students could be an effective tool in providing students needed clinical exposure to patients with developmental disabilities.