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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFKindness Is the Language That the Deaf Can Hear and the Blind Can See: Kindness, Theory of Mind and Well-Being in Adolescents.
Children (Basel)
December 2024
Department of Educational and Counselling Psychology, McGill University, Education Building, 3700 Mc Tavish St., Montreal, QC H3A 1Y2, Canada.
Background/objectives: This mixed-methods, cross-sectional study explored adolescent understandings of kindness, and interconnections amongst Theory of Mind (ToM; ability to attribute mental states to oneself and others), kindness, compassion, and social-psychological well-being components in 318 participants aged 10-18 (Mage = 14.58, = 2.31).
View Article and Find Full Text PDFActigraphy-based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case-control study.
J Sleep Res
December 2024
Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
This study aimed to improve our understanding of sleep problems as a comorbidity of hereditary deaf-blindness due to Usher syndrome type 2a. Fifteen patients with Usher syndrome type 2a with a conclusive genetic diagnosis and 15 unaffected controls participated in comprehensive sleep and activity assessments for 2 weeks, using the MotionWatch 8 actigraph and consensus sleep diary. Various sleep parameters including sleep opportunity window, sleep latency, sleep efficiency, and self-reported sleep quality were analysed.
View Article and Find Full Text PDFDiabetes Care Disparities in Deaf/Hard of Hearing and Blind/Low Vision Populations.
Curr Diab Rep
December 2024
College of Nursing, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
Purpose Of Review: Describe the connection between Deaf/hard of hearing (DHH) and diabetes, explain the bidirectional relationship of blind/low vision (BLV) and diabetes, characterize challenges DHH and BLV populations face when seeking healthcare regarding their diabetes management. Highlight the inaccessibility of diabetes technology in these populations. Provide best practices when communicating with DHH and BLV people in the clinical setting.
View Article and Find Full Text PDF"Teledentistry" using a mobile app (Telesmile) to improve oral health among the visually impaired and hearing-impaired populations in Saudi Arabia: a randomized controlled study.
Front Oral Health
December 2024
Department of Preventive Dental Sciences, College of Dentistry, Jazan University, Jazan, Saudi Arabia.
Objective: To assess the efficacy of a "teledentistry" method using a mobile app (Telesmile) in enhancing knowledge of oral health conditions and oral hygiene practices among the blind and deaf populations in Jazan Province in Saudi Arabia.
Methods: A randomized parallel design controlled study was conducted among 50 blind and 50 deaf subjects between the ages of 12-18 years, randomly chosen from blind and deaf schools. The participants were selected based on the inclusion and exclusion criteria.
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