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OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
Am J Med Genet C Semin Med Genet. 2017 Oct 30;:
Authors: Choo DI, Tawfik KO, Martin DM, Raphael Y
Abstract
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field. Great progress has been made in understanding the role of CHD7 in the development and function of the inner ear, as well as in related organs such as the middle ear and auditory and vestibular neural pathways. The goals of current research on CHD7 and CS are to (a) improve our understanding of the pathology caused by CHD7 pathogenic variants and (b) to provide better tools for prognosis and treatment. Current studies utilize cells and whole animals, from flies to mammals. The mouse is an excellent model for exploring mechanisms of Chd7 function in the ear, given the evolutionary conservation of ear structure, function, Chd7 expression, and similarity of mutant phenotypes between mice and humans. Newly recognized developmental functions for mouse Chd7 are shedding light on how abnormalities in CHD7 might lead to CS symptoms in humans. Here we review known human inner ear phenotypes associated with CHD7 pathogenic variants and CS, summarize progress toward diagnosis and treatment of inner ear-related pathologies, and explore new avenues for treatment based on basic science discoveries.
PMID: 29082607 [PubMed - as supplied by publisher]
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
Am J Med Genet C Semin Med Genet. 2017 Oct 30;:
Authors: Choo DI, Tawfik KO, Martin DM, Raphael Y
Abstract
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field. Great progress has been made in understanding the role of CHD7 in the development and function of the inner ear, as well as in related organs such as the middle ear and auditory and vestibular neural pathways. The goals of current research on CHD7 and CS are to (a) improve our understanding of the pathology caused by CHD7 pathogenic variants and (b) to provide better tools for prognosis and treatment. Current studies utilize cells and whole animals, from flies to mammals. The mouse is an excellent model for exploring mechanisms of Chd7 function in the ear, given the evolutionary conservation of ear structure, function, Chd7 expression, and similarity of mutant phenotypes between mice and humans. Newly recognized developmental functions for mouse Chd7 are shedding light on how abnormalities in CHD7 might lead to CS symptoms in humans. Here we review known human inner ear phenotypes associated with CHD7 pathogenic variants and CS, summarize progress toward diagnosis and treatment of inner ear-related pathologies, and explore new avenues for treatment based on basic science discoveries.
PMID: 29082607 [PubMed - as supplied by publisher]
Assessing hearing loss self-management in older adults.
Int J Audiol. 2017 Oct 28;:1-8
Authors: Convery E, Meyer C, Keidser G, Hickson L
Abstract
OBJECTIVE: To evaluate the capacity of a self-management assessment tool to identify unmet hearing health care (HHC) needs; to determine whether such an assessment yields novel and clinically useful information.
DESIGN: Hearing loss self-management (HLSM) was assessed with the Partners in Health scale and the Cue and Response interview from the Flinders Chronic Condition Management Program™. The results of the scale and the interview were compared to determine the extent to which they each contributed to the assessment of HLSM.
STUDY SAMPLE: Thirty older adults who currently receive HHC.
RESULTS: The two assessment tools were useful in identifying the specific domains in which participants lacked good HLSM skills. While participants tended to have a high level of knowledge about hearing loss and technology-based interventions, many reported the presence of unmet psychosocial needs with no clear plan for addressing them. There was considerable variation in terms of the extent to which their audiologists facilitated shared decision-making.
CONCLUSIONS: The results suggest that HLSM has the potential to play an important role in audiological rehabilitation. A HLSM assessment tool that more precisely matches the unique needs of people with hearing loss should be developed, along with interventions to meet those needs.
PMID: 29081257 [PubMed - as supplied by publisher]
Assessing hearing loss self-management in older adults.
Int J Audiol. 2017 Oct 28;:1-8
Authors: Convery E, Meyer C, Keidser G, Hickson L
Abstract
OBJECTIVE: To evaluate the capacity of a self-management assessment tool to identify unmet hearing health care (HHC) needs; to determine whether such an assessment yields novel and clinically useful information.
DESIGN: Hearing loss self-management (HLSM) was assessed with the Partners in Health scale and the Cue and Response interview from the Flinders Chronic Condition Management Program™. The results of the scale and the interview were compared to determine the extent to which they each contributed to the assessment of HLSM.
STUDY SAMPLE: Thirty older adults who currently receive HHC.
RESULTS: The two assessment tools were useful in identifying the specific domains in which participants lacked good HLSM skills. While participants tended to have a high level of knowledge about hearing loss and technology-based interventions, many reported the presence of unmet psychosocial needs with no clear plan for addressing them. There was considerable variation in terms of the extent to which their audiologists facilitated shared decision-making.
CONCLUSIONS: The results suggest that HLSM has the potential to play an important role in audiological rehabilitation. A HLSM assessment tool that more precisely matches the unique needs of people with hearing loss should be developed, along with interventions to meet those needs.
PMID: 29081257 [PubMed - as supplied by publisher]
Assessing hearing loss self-management in older adults.
Int J Audiol. 2017 Oct 28;:1-8
Authors: Convery E, Meyer C, Keidser G, Hickson L
Abstract
OBJECTIVE: To evaluate the capacity of a self-management assessment tool to identify unmet hearing health care (HHC) needs; to determine whether such an assessment yields novel and clinically useful information.
DESIGN: Hearing loss self-management (HLSM) was assessed with the Partners in Health scale and the Cue and Response interview from the Flinders Chronic Condition Management Program™. The results of the scale and the interview were compared to determine the extent to which they each contributed to the assessment of HLSM.
STUDY SAMPLE: Thirty older adults who currently receive HHC.
RESULTS: The two assessment tools were useful in identifying the specific domains in which participants lacked good HLSM skills. While participants tended to have a high level of knowledge about hearing loss and technology-based interventions, many reported the presence of unmet psychosocial needs with no clear plan for addressing them. There was considerable variation in terms of the extent to which their audiologists facilitated shared decision-making.
CONCLUSIONS: The results suggest that HLSM has the potential to play an important role in audiological rehabilitation. A HLSM assessment tool that more precisely matches the unique needs of people with hearing loss should be developed, along with interventions to meet those needs.
PMID: 29081257 [PubMed - as supplied by publisher]
Assessing hearing loss self-management in older adults.
Int J Audiol. 2017 Oct 28;:1-8
Authors: Convery E, Meyer C, Keidser G, Hickson L
Abstract
OBJECTIVE: To evaluate the capacity of a self-management assessment tool to identify unmet hearing health care (HHC) needs; to determine whether such an assessment yields novel and clinically useful information.
DESIGN: Hearing loss self-management (HLSM) was assessed with the Partners in Health scale and the Cue and Response interview from the Flinders Chronic Condition Management Program™. The results of the scale and the interview were compared to determine the extent to which they each contributed to the assessment of HLSM.
STUDY SAMPLE: Thirty older adults who currently receive HHC.
RESULTS: The two assessment tools were useful in identifying the specific domains in which participants lacked good HLSM skills. While participants tended to have a high level of knowledge about hearing loss and technology-based interventions, many reported the presence of unmet psychosocial needs with no clear plan for addressing them. There was considerable variation in terms of the extent to which their audiologists facilitated shared decision-making.
CONCLUSIONS: The results suggest that HLSM has the potential to play an important role in audiological rehabilitation. A HLSM assessment tool that more precisely matches the unique needs of people with hearing loss should be developed, along with interventions to meet those needs.
PMID: 29081257 [PubMed - as supplied by publisher]