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OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Autosomal-Recessive Hearing Impairment due to Rare Missense Variants within S1PR2.
Am J Hum Genet. 2016 Jan 19;
Authors: Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM
Abstract
The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2(-/-) mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2(-/-) mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2.
PMID: 26805784 [PubMed - as supplied by publisher]
Related Articles |
Family involvement in music impacts participation of children with cochlear implants in music education and music activities.
Cochlear Implants Int. 2015 May;16(3):137-46
Authors: Driscoll V, Gfeller K, Tan X, See RL, Cheng HY, Kanemitsu M
Abstract
Objective Children with cochlear implants (CIs) participate in musical activities in school and daily lives. Considerable variability exists regarding the amount of music involvement and enjoyment. Using the Music Engagement Questionnaire-Preschool/Elementary (MEQ-P/E), we wanted to determine patterns of musical participation and the impact of familial factors on engagement. Methods Parents of 32 children with CIs (16 preschool and 16 elementary) completed a questionnaire regarding the musical involvement of their child with an implant and a normal-hearing (NH) sibling (if one existed). We compared CI children's involvement to that of their NH siblings as well as across groups of children with and without CIs. Correlations between parent ratings of music importance, demographic factors, and involvement of CI and NH children were conducted within and across groups. Results No significant differences were found between children with CIs and NH siblings, meaning children from the same family showed similar levels of musical involvement. When compared at the same developmental stage, no significant differences were found between preschool children with and without CIs. Parents who rated the importance of music as 'low' or 'middle' had children (NH and CI) who were less involved in music activities. Children whose parents rated music importance as 'high' were involved in monthly to weekly music activities with 81.25% reporting daily music listening. Conclusion Despite a less-than-ideal auditory signal for music, preschool and school-aged CI children enjoy and are involved in musical experiences. Families who enjoy and spend a greater amount of time involved in music tend to have children who also engage more actively in music.
PMID: 25431978 [PubMed - indexed for MEDLINE]
Emerging technologies with potential for objectively evaluating speech recognition skills.
Int J Audiol. 2016 Jan 25;:1-10
Authors: Rawool VW
Abstract
Work-related exposure to noise and other ototoxins can cause damage to the cochlea, synapses between the inner hair cells, a auditory nerve fibers, and higher auditory pathways, leading to difficulties in recognizing speech. Procedures designed to determine speech recognition scores (SRS) in an objective manner can be helpful in disability compensation cases where the worker claims to have poor speech perception due to exposure to noise or ototoxins. Such measures can also be helpful in determining SRS in individuals who cannot provide reliable responses to speech stimuli, including patients with Alzheimer's disease, traumatic brain injuries, and infants with and without hearing loss. Cost-effective neural monitoring hardware and software is being rapidly refined due to the high demand for neurogaming (games involving the use of brain-computer interfaces), health, and other applications. More specifically, two related advances in neuro-technology include relative ease in recording neural activity and availability of sophisticated analysing techniques. These techniques are reviewed in the current article and their applications for developing objective SRS procedures are proposed. Issues related to neuroaudioethics (ethics related to collection of neural data evoked by auditory stimuli including speech) and neurosecurity (preservation of a person's neural mechanisms and free will) are also discussed.
PMID: 26807789 [PubMed - as supplied by publisher]
Prevalence and characteristics of spontaneous tinnitus in 11-year-old children.
Int J Audiol. 2016 Jan 25;:1-7
Authors: Humphriss R, Hall AJ, Baguley DM
Abstract
OBJECTIVE: To estimate the prevalence of spontaneous tinnitus in 11-year-old children.
DESIGN: A prospective UK population-based study.
STUDY SAMPLE: A total of 7092 children from the Avon longitudinal study of parents and children (ALSPAC) who attended the hearing session at age 11 years and answered questions about tinnitus.
RESULTS: We estimated the prevalence of any spontaneous tinnitus as 28.1% (95% CI 27.1, 29.2%), and the prevalence of 'clinically significant' tinnitus as 3.1% (95% CI 2.7, 3.5%). Children were less likely to have clinically significant tinnitus if the tinnitus was 'soft' rather than 'loud' and if continuous rather than intermittent. Clinical significance was more likely if the tinnitus occurred more than once a week. Neither pitch nor length of history were important determinants of clinical significance. Small increases in mean hearing threshold (of up to 2.3 dB HL) were associated with clinically significant tinnitus.
CONCLUSIONS: Although the prevalence of any tinnitus in 11-year-old children appears high, the small proportion in which this was found to be clinically significant implies that this does not necessarily indicate a large unmet clinical demand. We would expect approximately one child per class of 30 to have clinically significant tinnitus which is, by definition, problematic.
PMID: 26804253 [PubMed - as supplied by publisher]
Emerging technologies with potential for objectively evaluating speech recognition skills.
Int J Audiol. 2016 Jan 25;:1-10
Authors: Rawool VW
Abstract
Work-related exposure to noise and other ototoxins can cause damage to the cochlea, synapses between the inner hair cells, a auditory nerve fibers, and higher auditory pathways, leading to difficulties in recognizing speech. Procedures designed to determine speech recognition scores (SRS) in an objective manner can be helpful in disability compensation cases where the worker claims to have poor speech perception due to exposure to noise or ototoxins. Such measures can also be helpful in determining SRS in individuals who cannot provide reliable responses to speech stimuli, including patients with Alzheimer's disease, traumatic brain injuries, and infants with and without hearing loss. Cost-effective neural monitoring hardware and software is being rapidly refined due to the high demand for neurogaming (games involving the use of brain-computer interfaces), health, and other applications. More specifically, two related advances in neuro-technology include relative ease in recording neural activity and availability of sophisticated analysing techniques. These techniques are reviewed in the current article and their applications for developing objective SRS procedures are proposed. Issues related to neuroaudioethics (ethics related to collection of neural data evoked by auditory stimuli including speech) and neurosecurity (preservation of a person's neural mechanisms and free will) are also discussed.
PMID: 26807789 [PubMed - as supplied by publisher]
Prevalence and characteristics of spontaneous tinnitus in 11-year-old children.
Int J Audiol. 2016 Jan 25;:1-7
Authors: Humphriss R, Hall AJ, Baguley DM
Abstract
OBJECTIVE: To estimate the prevalence of spontaneous tinnitus in 11-year-old children.
DESIGN: A prospective UK population-based study.
STUDY SAMPLE: A total of 7092 children from the Avon longitudinal study of parents and children (ALSPAC) who attended the hearing session at age 11 years and answered questions about tinnitus.
RESULTS: We estimated the prevalence of any spontaneous tinnitus as 28.1% (95% CI 27.1, 29.2%), and the prevalence of 'clinically significant' tinnitus as 3.1% (95% CI 2.7, 3.5%). Children were less likely to have clinically significant tinnitus if the tinnitus was 'soft' rather than 'loud' and if continuous rather than intermittent. Clinical significance was more likely if the tinnitus occurred more than once a week. Neither pitch nor length of history were important determinants of clinical significance. Small increases in mean hearing threshold (of up to 2.3 dB HL) were associated with clinically significant tinnitus.
CONCLUSIONS: Although the prevalence of any tinnitus in 11-year-old children appears high, the small proportion in which this was found to be clinically significant implies that this does not necessarily indicate a large unmet clinical demand. We would expect approximately one child per class of 30 to have clinically significant tinnitus which is, by definition, problematic.
PMID: 26804253 [PubMed - as supplied by publisher]
Emerging technologies with potential for objectively evaluating speech recognition skills.
Int J Audiol. 2016 Jan 25;:1-10
Authors: Rawool VW
Abstract
Work-related exposure to noise and other ototoxins can cause damage to the cochlea, synapses between the inner hair cells, a auditory nerve fibers, and higher auditory pathways, leading to difficulties in recognizing speech. Procedures designed to determine speech recognition scores (SRS) in an objective manner can be helpful in disability compensation cases where the worker claims to have poor speech perception due to exposure to noise or ototoxins. Such measures can also be helpful in determining SRS in individuals who cannot provide reliable responses to speech stimuli, including patients with Alzheimer's disease, traumatic brain injuries, and infants with and without hearing loss. Cost-effective neural monitoring hardware and software is being rapidly refined due to the high demand for neurogaming (games involving the use of brain-computer interfaces), health, and other applications. More specifically, two related advances in neuro-technology include relative ease in recording neural activity and availability of sophisticated analysing techniques. These techniques are reviewed in the current article and their applications for developing objective SRS procedures are proposed. Issues related to neuroaudioethics (ethics related to collection of neural data evoked by auditory stimuli including speech) and neurosecurity (preservation of a person's neural mechanisms and free will) are also discussed.
PMID: 26807789 [PubMed - as supplied by publisher]
Prevalence and characteristics of spontaneous tinnitus in 11-year-old children.
Int J Audiol. 2016 Jan 25;:1-7
Authors: Humphriss R, Hall AJ, Baguley DM
Abstract
OBJECTIVE: To estimate the prevalence of spontaneous tinnitus in 11-year-old children.
DESIGN: A prospective UK population-based study.
STUDY SAMPLE: A total of 7092 children from the Avon longitudinal study of parents and children (ALSPAC) who attended the hearing session at age 11 years and answered questions about tinnitus.
RESULTS: We estimated the prevalence of any spontaneous tinnitus as 28.1% (95% CI 27.1, 29.2%), and the prevalence of 'clinically significant' tinnitus as 3.1% (95% CI 2.7, 3.5%). Children were less likely to have clinically significant tinnitus if the tinnitus was 'soft' rather than 'loud' and if continuous rather than intermittent. Clinical significance was more likely if the tinnitus occurred more than once a week. Neither pitch nor length of history were important determinants of clinical significance. Small increases in mean hearing threshold (of up to 2.3 dB HL) were associated with clinically significant tinnitus.
CONCLUSIONS: Although the prevalence of any tinnitus in 11-year-old children appears high, the small proportion in which this was found to be clinically significant implies that this does not necessarily indicate a large unmet clinical demand. We would expect approximately one child per class of 30 to have clinically significant tinnitus which is, by definition, problematic.
PMID: 26804253 [PubMed - as supplied by publisher]
Emerging technologies with potential for objectively evaluating speech recognition skills.
Int J Audiol. 2016 Jan 25;:1-10
Authors: Rawool VW
Abstract
Work-related exposure to noise and other ototoxins can cause damage to the cochlea, synapses between the inner hair cells, a auditory nerve fibers, and higher auditory pathways, leading to difficulties in recognizing speech. Procedures designed to determine speech recognition scores (SRS) in an objective manner can be helpful in disability compensation cases where the worker claims to have poor speech perception due to exposure to noise or ototoxins. Such measures can also be helpful in determining SRS in individuals who cannot provide reliable responses to speech stimuli, including patients with Alzheimer's disease, traumatic brain injuries, and infants with and without hearing loss. Cost-effective neural monitoring hardware and software is being rapidly refined due to the high demand for neurogaming (games involving the use of brain-computer interfaces), health, and other applications. More specifically, two related advances in neuro-technology include relative ease in recording neural activity and availability of sophisticated analysing techniques. These techniques are reviewed in the current article and their applications for developing objective SRS procedures are proposed. Issues related to neuroaudioethics (ethics related to collection of neural data evoked by auditory stimuli including speech) and neurosecurity (preservation of a person's neural mechanisms and free will) are also discussed.
PMID: 26807789 [PubMed - as supplied by publisher]
Prevalence and characteristics of spontaneous tinnitus in 11-year-old children.
Int J Audiol. 2016 Jan 25;:1-7
Authors: Humphriss R, Hall AJ, Baguley DM
Abstract
OBJECTIVE: To estimate the prevalence of spontaneous tinnitus in 11-year-old children.
DESIGN: A prospective UK population-based study.
STUDY SAMPLE: A total of 7092 children from the Avon longitudinal study of parents and children (ALSPAC) who attended the hearing session at age 11 years and answered questions about tinnitus.
RESULTS: We estimated the prevalence of any spontaneous tinnitus as 28.1% (95% CI 27.1, 29.2%), and the prevalence of 'clinically significant' tinnitus as 3.1% (95% CI 2.7, 3.5%). Children were less likely to have clinically significant tinnitus if the tinnitus was 'soft' rather than 'loud' and if continuous rather than intermittent. Clinical significance was more likely if the tinnitus occurred more than once a week. Neither pitch nor length of history were important determinants of clinical significance. Small increases in mean hearing threshold (of up to 2.3 dB HL) were associated with clinically significant tinnitus.
CONCLUSIONS: Although the prevalence of any tinnitus in 11-year-old children appears high, the small proportion in which this was found to be clinically significant implies that this does not necessarily indicate a large unmet clinical demand. We would expect approximately one child per class of 30 to have clinically significant tinnitus which is, by definition, problematic.
PMID: 26804253 [PubMed - as supplied by publisher]