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PloS One 2024Due to their dual sensory impairment, people with congenital deafblindness (CDB) are rarely naturally involved in other people's conversations. Their communication...
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.
Topics: Humans; Deaf-Blind Disorders; Communication; Female; Male
PubMed: 38723042
DOI: 10.1371/journal.pone.0299428 -
Case Reports in Ophthalmology 2024Streptococcal meningoencephalitis (SME) is a rare, and frequently lethal, acute infection, and inflammation of the central nervous system parenchyma, with associated...
Successful Management of Acute Streptococcal Meningoencephalitis Complicated by Bilateral Third-Nerve Palsies, Wall-Eyed Bilateral Internuclear Ophthalmoplegia, Blindness, and Deafness: Case Report.
INTRODUCTION
Streptococcal meningoencephalitis (SME) is a rare, and frequently lethal, acute infection, and inflammation of the central nervous system parenchyma, with associated meningeal involvement. Bacterial meningoencephalitis is generally associated with high rates of morbidity and mortality, despite available antimicrobial and corticosteroid treatments. While is well recognised to cause bacterial meningitis, direct extension into the central nervous system parenchyma is rare.
CASE PRESENTATION
A previously well 49-year-old man presented with sudden onset severe headache, fevers, neck stiffness, and reduced consciousness. The manifestations of SME in this patient were bilateral pupil-involving third-nerve palsies, wall-eyed bilateral internuclear ophthalmoplegia (WEBINO), bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs in his limbs. Initially, a partial response to high dose intravenous antibiotics occurred, but with administration of intravenous corticosteroids, further substantial resolution of the patient's neurological and neuro-ophthalmological deficits occurred.
CONCLUSION
This case highlights the benefit of multidisciplinary diagnostic and therapeutic interventions in a case of SME complicated by bilateral pupil-involving third-nerve palsies, WEBINO, bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs. It appears to be the first reported case of SME with this rare collection of neuro-ophthalmological abnormalities.
PubMed: 38721042
DOI: 10.1159/000538821 -
Frontiers in Genetics 2024Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic...
Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice.
PubMed: 38711914
DOI: 10.3389/fgene.2024.1384094 -
Brain and Language Jun 2024Geometry has been identified as a cognitive domain where deaf individuals exhibit relative strength, yet the neural mechanisms underlying geometry processing in this...
Geometry has been identified as a cognitive domain where deaf individuals exhibit relative strength, yet the neural mechanisms underlying geometry processing in this population remain poorly understood. This fMRI study aimed to investigate the neural correlates of geometry processing in deaf and hearing individuals. Twenty-two adult deaf signers and 25 hearing non-signers completed a geometry decision task. We found no group differences in performance, while there were some differences in parietal activation. As expected, the posterior superior parietal lobule (SPL) was recruited for both groups. The anterior SPL was significantly more activated in the deaf group, and the inferior parietal lobule was significantly more deactivated in the hearing group. In conclusion, despite similar performance across groups, there were differences in the recruitment of parietal regions. These differences may reflect inherent differences in brain organization due to different early sensory and linguistic experiences.
Topics: Humans; Sign Language; Parietal Lobe; Male; Adult; Female; Deafness; Magnetic Resonance Imaging; Brain Mapping; Young Adult; Middle Aged
PubMed: 38703524
DOI: 10.1016/j.bandl.2024.105416 -
Hearing Research Jun 2024Hearing loss is a common side effect of many tumor treatments. However, hearing loss can also occur as a direct result of certain tumors of the nervous system, the most... (Review)
Review
Hearing loss is a common side effect of many tumor treatments. However, hearing loss can also occur as a direct result of certain tumors of the nervous system, the most common of which are the vestibular schwannomas (VS). These tumors arise from Schwann cells of the vestibulocochlear nerve and their main cause is the loss of function of NF2, with 95 % of cases being sporadic and 5 % being part of the rare neurofibromatosis type 2 (NF2)-related Schwannomatosis. Genetic variations in NF2 do not fully explain the clinical heterogeneity of VS, and interactions between Schwann cells and their microenvironment appear to be critical for tumor development. Preclinical in vitro and in vivo models of VS are needed to develop prognostic biomarkers and targeted therapies. In addition to VS, other tumors can affect hearing. Meningiomas and other masses in the cerebellopontine angle can compress the vestibulocochlear nerve due to their anatomic proximity. Gliomas can disrupt several neurological functions, including hearing; in fact, glioblastoma multiforme, the most aggressive subtype, may exhibit early symptoms of auditory alterations. Besides, treatments for high-grade tumors, including chemotherapy or radiotherapy, as well as incomplete resections, can induce long-term auditory dysfunction. Because hearing loss can have an irreversible and dramatic impact on quality of life, it should be considered in the clinical management plan of patients with tumors, and monitored throughout the course of the disease.
Topics: Humans; Neuroma, Acoustic; Hearing Loss; Animals; Hearing; Neurilemmoma; Vestibulocochlear Nerve; Risk Factors; Neurofibromatosis 2; Meningioma
PubMed: 38703433
DOI: 10.1016/j.heares.2024.109012 -
Biochimica Et Biophysica Acta.... Jun 2024In this study, we identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. We present a...
PURPOSE
In this study, we identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. We present a series of studies to clarify the pathogenic variants and specific mechanism.
METHODS
Exome sequencing and Sanger sequencing was conducted in affected and unaffected family members. A variety of human and cell studies were performed to explore the pathogenic process of keratosis.
RESULTS
Our finding indicated that DIDA syndrome was caused by compound heterozygous variants in the oxysterol-binding protein-related protein 2 (OSBPL2) gene. Furthermore, our findings revealed a direct interaction between OSBPL2 and Phosphoinositide phospholipase C-beta-3 (PLCB3), a key player in hyperkeratosis. OSBPL2 effectively inhibits the ubiquitylation of PLCB3, thereby stabilizing PLCB3. Conversely, OSBPL2 variants lead to enhanced ubiquitination and subsequent degradation of PLCB3, leading to epidermal hyperkeratosis, characterized by aberrant proliferation and delayed terminal differentiation of keratinocytes.
CONCLUSIONS
Our study not only unveiled the association between OSBPL2 variants and the newly identified DIDA syndrome but also shed light on the underlying mechanism.
Topics: Humans; Deafness; Phospholipase C beta; Female; Male; Ichthyosis; Pedigree; Heterozygote; Ubiquitination; Keratinocytes; Exome Sequencing; Adult; Syndrome; HEK293 Cells; Receptors, Steroid
PubMed: 38701954
DOI: 10.1016/j.bbadis.2024.167207 -
PLoS Genetics May 2024Age at first sexual intercourse (AFS) and lifetime number of sexual partners (NSP) may influence the pathogenesis of uterine leiomyoma (UL) through their associations...
Age at first sexual intercourse (AFS) and lifetime number of sexual partners (NSP) may influence the pathogenesis of uterine leiomyoma (UL) through their associations with hormonal concentrations and uterine infections. Leveraging summary statistics from large-scale genome-wide association studies conducted in European ancestry for each trait (NAFS = 214,547; NNSP = 370,711; NUL = 302,979), we observed a significant negative genomic correlation for UL with AFS (rg = -0.11, P = 7.83×10-4), but not with NSP (rg = 0.01, P = 0.62). Four specific genomic regions were identified as contributing significant local genetic correlations to AFS and UL, including one genomic region further identified for NSP and UL. Partitioning SNP-heritability with cell-type-specific annotations, a close clustering of UL with both AFS and NSP was identified in immune and blood-related components. Cross-trait meta-analysis revealed 15 loci shared between AFS/NSP and UL, including 7 novel SNPs. Univariable two-sample Mendelian randomization (MR) analysis suggested no evidence for a causal association between genetically predicted AFS/NSP and risk of UL, nor vice versa. Multivariable MR adjusting for age at menarche or/and age at natural menopause revealed a significant causal effect of genetically predicted higher AFS on a lower risk of UL. Such effect attenuated to null when age at first birth was further included. Utilizing participant-level data from the UK Biobank, one-sample MR based on genetic risk scores yielded consistent null findings among both pre-menopausal and post-menopausal females. From a genetic perspective, our study demonstrates an intrinsic link underlying sexual factors (AFS and NSP) and UL, highlighting shared biological mechanisms rather than direct causal effects. Future studies are needed to elucidate the specific mechanisms involved in the shared genetic influences and their potential impact on UL development.
Topics: Humans; Leiomyoma; Female; Genome-Wide Association Study; Polymorphism, Single Nucleotide; Uterine Neoplasms; Coitus; Sexual Partners; Adult; Mendelian Randomization Analysis; Genetic Predisposition to Disease; Middle Aged; Sexual Behavior
PubMed: 38701081
DOI: 10.1371/journal.pgen.1011268 -
Journal of Audiology & Otology Apr 2024Additional needs refer to specific requirements or support for individuals with disabilities or syndromes. Intellectual ability is a crucial outcome determinant of a...
BACKGROUND AND OBJECTIVES
Additional needs refer to specific requirements or support for individuals with disabilities or syndromes. Intellectual ability is a crucial outcome determinant of a cochlear implant. The social quotient (SQ) is an indirect predictor of intellectual capacity and social skills. This study aimed to investigate the clinical significance of the SQ on children with additional needs who received cochlear implants. Subjects and.
METHODS
This study included 24 patients with diagnosed developmental delays and syndromes, who demonstrated SQ scores of <70. Preoperative social skills were evaluated using the SQ. All patients underwent cochlear implantation (CI) surgery before 7 years of age. Outcomes were evaluated using the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and Categories of Auditory Performance (CAP) scores. Data were collected through a retrospective chart review.
RESULTS
Children were categorized into three groups based on their SQ. There were no correlations between the preoperative SQ and IT-MAIS or CAP scores at 2 and 5 years of follow-up postoperatively. The CI outcomes of children with low SQ (<70) differed from those with normal development (SQ>70). In the low-SQ group, inner ear anomalies were observed in 10 (41.7%) patients. Although not statistically significant, these children exhibited a trend of lower average outcomes than children without inner ear anomalies.
CONCLUSIONS
CI outcomes in children with additional needs positively affected auditory performance. Postoperative auditory and language skills tended to improve slowly in children with additional needs and a lower SQ. Over time, development gradually became more comparable to the other groups of children. However, this improvement was less than that observed in children without additional needs. Our findings support CI for children with additional needs as part of long-term auditory rehabilitation following surgery.
PubMed: 38695056
DOI: 10.7874/jao.2024.00101 -
Journal of Audiology & Otology Apr 2024Cochlear implants (CIs) have demonstrated a clear functional benefit in children with severe-to-profound sensorineural hearing loss (SNHL) and thus have gained wide...
Cochlear implants (CIs) have demonstrated a clear functional benefit in children with severe-to-profound sensorineural hearing loss (SNHL) and thus have gained wide acceptance for treating deafness in the pediatric population. When evaluating young children for cochlear implantation, there are unique considerations beyond the standard issues addressed during surgery in adults. Because of advances in genetic testing, imaging resolution, CI technology, post-implant rehabilitation, and other factors, issues related to CI surgery in children continue to evolve. Such factors have led to changes in candidacy guidelines, vaccine requirements, and lowering of age requirement for surgery. In addition, differences in the anatomy and physiology of infants require special attention to ensure safety when operating on young children. This review summarizes these issues and provides guidance for surgeons treating children with SNHL.
PubMed: 38695052
DOI: 10.7874/jao.2024.00073