scholarly journals Re-Classification of the Causes of Hereditary Hearing Impairment based on past data

2020 ◽  
Author(s):  
A Tropitzsch ◽  
M Müller ◽  
S Dofek ◽  
P Gamerdinger ◽  
H Löwenheim ◽  
...  
Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 43
Author(s):  
Tung-Lin Lee ◽  
Pei-Hsuan Lin ◽  
Pei-Lung Chen ◽  
Jin-Bon Hong ◽  
Chen-Chi Wu

Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.


2020 ◽  
Author(s):  
Artur Lorens ◽  
Griet Mertens ◽  
Anja Kurz

Abstract Background: There is a need for a more holistic approach to treating hearing impairment, as it affects many aspects of a person’s life, not just their hearing. This article describes how The International Classification of Functioning, Disability and Health (ICF), particularly the ICF core sets for hearing loss, can be used to plan and evaluate the audiological (re)habilitation of cochlear implant (CI) recipients. Using the ICF core sets should help clinicians better address not only hearing impairment but also its consequences.Methods: The opinions of experts were gathered on their clinical experience about the most relevant ICF categories and codes to describe audiological rehabilitation after cochlear implantation. For the relevant ICF categories, the most commonly used audiological assessment tools and methods were identified.Results: The most relevant codes for Body Functions and Structures, Activity, and Participation were identified. These include: structure of the inner ear (s260), auditory nerve (s260), brainstem (s1105), midbrain (s1101), diencephalon (s1102), and cortical lobe (s110); sound detection (b2300); sound discrimination (b2301); localization of sound source (b2302); lateralization of sound (b2303); speech discrimination (b2304); listening (d115); communicating with – receiving – spoken messages (d310); handling stress and other psychological demands (d240); using communication devices and techniques (d360); conversation (d350); family relationships (d760); school education (d820); remunerative employment (d850); and community life (d910). The appropriate questionnaires as an assessment tools were proposed.Conclusions: Using the ICF can help target the holistic (re)habilitation of CI recipients and reduce hearing loss-induced deficits in function, activity, and participation.


2003 ◽  
Vol 1 (1) ◽  
pp. 29-32 ◽  
Author(s):  
MARKUS HF PFISTER ◽  
ANIL K LALWANI

2013 ◽  
Vol 8 (1) ◽  
pp. 53 ◽  
Author(s):  
Robert Fulford ◽  
Jane Ginsborg

The first part of this paper reviews literature on the use of gesture in musical contexts and reports an investigation of the gestures (spontaneous gesticulation) made by musicians with different levels of hearing impairment in rehearsal talk. Profoundly deaf musicians, who were also users of British Sign Language, were found to produce significantly more gestures than moderately deaf and hearing musicians. Analysis also revealed the presence of underlying spatial and cross-modal associations in the gestural representations produced by all the musicians. The second part of the paper discusses the results of the study and addresses some wider theoretical questions. First, a classification of ‘musical shaping gestures’ (MSGs) according to existing taxonomies is attempted. Second, the question of how a standardised ‘sign language of music’ could be formed is addressed and, finally, the potential uses of such a system are considered.


1999 ◽  
Vol 64 (1) ◽  
pp. 318-323 ◽  
Author(s):  
Anil K. Lalwani ◽  
William M. Luxford ◽  
Anand N. Mhatre ◽  
Ali Attaie ◽  
Edward R. Wilcox ◽  
...  

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