A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

by Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G) in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

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National Academies of Practice and Audiology

Three members of the American Academy of Audiology, Bettie Borton, AuD; Victor Bray, PhD, and Victoria Keetay, PhD, were recently selected to serve in leadership positions in the the National Academies of Practice (NAP). Bettie Borton and Victoria Keetay are the chair and vice chair of the Audiology Academy in the NAP, respectively. Victor Bray, founding chair of the Audiology Academy, has been elected as Secretary/Treasurer to NAP’s Executive Council.

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Tinnitus Gone After A Year

Tinnitus is an audiological condition commonly described as either a ringing in the ear for no known reason. Some experience it as buzzing, humming, or even as a loud, roaring noise. In very rare cases, tinnitus sufferers may actually hear music. Although annoying, it isn’t painful, and it is often possible that treatment will result in tinnitus gone after a year.

Tinnitus by itself is not a disease but rather a symptom of conditions that range from minor to severe. Causes include such ear was blocking ear canals, fluid in the inner ear, aneurysm, or even Meniere’s disease. The first step for those who experience these symptoms is to visit their health care professional to find the underlying cause. Two types of tinnitus exist — subjective and objective tinnitus. Subjective tinnitus is sound that only the specific patient hears, while objective tinnitus can be heard by others. It’s estimated that over 99 percent of all of those who suffer from tinnitus experience the subjective variety. Objective tinnitus is usually caused by internal bodily functions such as blood flow disorders.

Science currently has no cure for tinnitus, but fortunately, treatment options exist that offer many of those who suffer from the condition a measure of relief. The simplest way to get the tinnitus gone after a year is to stop is to effectively treat the root cause, but when that can’t be done, sound therapies, hearing aids, and behavioral therapies often alleviate symptoms. Many of those who suffer from tinnitus are also experiencing some form of hearing loss, so fitting them with hearing aids sometimes eliminates tinnitus completely.

Other possible courses of treatment for tinnitus include vitamin and mineral therapy, biofeedback, and cognitive therapy. Studies have shown that many who suffer from tinnitus also experience decreased levels of magnesium and zinc. Ginkgo supplements have also been found by some to reduce occurrences of tinnitus. Biofeedback can be helpful in treating tinnitus because it empowers the patient with techniques designed to minimize responses to the stimuli that may result in an onset of tinnitus. Cognitive therapy may offer some relief to those who are struggling with coping with the negative aspects of this disorder such as problems sleeping and increased feelings of anger and frustration.

Because tinnitus is often a condition associated with working in loud environments or otherwise being exposed to loud noises over a period of time, those who are at risk are advised to wear hearing protection. Also, cleaning the ears out with cotton swabs is not advised because this procedure serves to push ear wax further back into the inner ear canal.

Tinnitus has many possible causes and potential treatments. Patients often have to explore several treatment strategies to achieve tinnitus gone after a year before finding something that works for their individual situation.

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Noise and pitch interact during the cortical segregation of concurrent speech

Publication date: Available online 25 May 2017
Source:Hearing Research
Author(s): Gavin M. Bidelman, Anusha Yellamsetty
Behavioral studies reveal listeners exploit intrinsic differences in voice fundamental frequency (F0) to segregate concurrent speech sounds—the so-called “F0-benefit.” More favorable signal-to-noise ratio (SNR) in the environment, an extrinsic acoustic factor, similarly benefits the parsing of simultaneous speech. Here, we examined the neurobiological substrates of these two cues in the perceptual segregation of concurrent speech mixtures. We recorded event-related brain potentials (ERPs) while listeners performed a speeded double-vowel identification task. Listeners heard two concurrent vowels whose F0 differed by zero or four semitones presented in either clean (no noise) or noise-degraded (+5 dB SNR) conditions. Behaviorally, listeners were more accurate in correctly identifying both vowels for larger F0 separations but F0-benefit was more pronounced at more favorable SNRs (i.e., pitch × SNR interaction). Analysis of the ERPs revealed that only the P2 wave (∼200 ms) showed a similar F0 x SNR interaction as behavior and was correlated with listeners' perceptual F0-benefit. Neural classifiers applied to the ERPs further suggested that speech sounds are segregated neurally within 200 ms based on SNR whereas segregation based on pitch occurs later in time (400–700 ms). The earlier timing of extrinsic SNR compared to intrinsic F0-based segregation implies that the cortical extraction of speech from noise is more efficient than differentiating speech based on pitch cues alone, which may recruit additional cortical processes. Findings indicate that noise and pitch differences interact relatively early in cerebral cortex and that the brain arrives at the identities of concurrent speech mixtures as early as ∼200 ms.



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Brain activity underlying the recovery of meaning from degraded speech: A functional near-infrared spectroscopy (fNIRS) study

Publication date: Available online 25 May 2017
Source:Hearing Research
Author(s): Pramudi Wijayasiri, Douglas E.H. Hartley, Ian M. Wiggins
The purpose of this study was to establish whether functional near-infrared spectroscopy (fNIRS), an emerging brain-imaging technique based on optical principles, is suitable for studying the brain activity that underlies effortful listening. In an event-related fNIRS experiment, normally-hearing adults listened to sentences that were either clear or degraded (noise vocoded). These sentences were presented simultaneously with a non-speech distractor, and on each trial participants were instructed to attend either to the speech or to the distractor. The primary region of interest for the fNIRS measurements was the left inferior frontal gyrus (LIFG), a cortical region involved in higher-order language processing. The fNIRS results confirmed findings previously reported in the functional magnetic resonance imaging (fMRI) literature. Firstly, the LIFG exhibited an elevated response to degraded versus clear speech, but only when attention was directed towards the speech. This attention-dependent increase in frontal brain activation may be a neural marker for effortful listening. Secondly, during attentive listening to degraded speech, the haemodynamic response peaked significantly later in the LIFG than in superior temporal cortex, possibly reflecting the engagement of working memory to help reconstruct the meaning of degraded sentences. The homologous region in the right hemisphere may play an equivalent role to the LIFG in some left-handed individuals. In conclusion, fNIRS holds promise as a flexible tool to examine the neural signature of effortful listening.



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Noise and pitch interact during the cortical segregation of concurrent speech

Publication date: Available online 25 May 2017
Source:Hearing Research
Author(s): Gavin M. Bidelman, Anusha Yellamsetty
Behavioral studies reveal listeners exploit intrinsic differences in voice fundamental frequency (F0) to segregate concurrent speech sounds—the so-called “F0-benefit.” More favorable signal-to-noise ratio (SNR) in the environment, an extrinsic acoustic factor, similarly benefits the parsing of simultaneous speech. Here, we examined the neurobiological substrates of these two cues in the perceptual segregation of concurrent speech mixtures. We recorded event-related brain potentials (ERPs) while listeners performed a speeded double-vowel identification task. Listeners heard two concurrent vowels whose F0 differed by zero or four semitones presented in either clean (no noise) or noise-degraded (+5 dB SNR) conditions. Behaviorally, listeners were more accurate in correctly identifying both vowels for larger F0 separations but F0-benefit was more pronounced at more favorable SNRs (i.e., pitch × SNR interaction). Analysis of the ERPs revealed that only the P2 wave (∼200 ms) showed a similar F0 x SNR interaction as behavior and was correlated with listeners' perceptual F0-benefit. Neural classifiers applied to the ERPs further suggested that speech sounds are segregated neurally within 200 ms based on SNR whereas segregation based on pitch occurs later in time (400–700 ms). The earlier timing of extrinsic SNR compared to intrinsic F0-based segregation implies that the cortical extraction of speech from noise is more efficient than differentiating speech based on pitch cues alone, which may recruit additional cortical processes. Findings indicate that noise and pitch differences interact relatively early in cerebral cortex and that the brain arrives at the identities of concurrent speech mixtures as early as ∼200 ms.



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Brain activity underlying the recovery of meaning from degraded speech: A functional near-infrared spectroscopy (fNIRS) study

Publication date: Available online 25 May 2017
Source:Hearing Research
Author(s): Pramudi Wijayasiri, Douglas E.H. Hartley, Ian M. Wiggins
The purpose of this study was to establish whether functional near-infrared spectroscopy (fNIRS), an emerging brain-imaging technique based on optical principles, is suitable for studying the brain activity that underlies effortful listening. In an event-related fNIRS experiment, normally-hearing adults listened to sentences that were either clear or degraded (noise vocoded). These sentences were presented simultaneously with a non-speech distractor, and on each trial participants were instructed to attend either to the speech or to the distractor. The primary region of interest for the fNIRS measurements was the left inferior frontal gyrus (LIFG), a cortical region involved in higher-order language processing. The fNIRS results confirmed findings previously reported in the functional magnetic resonance imaging (fMRI) literature. Firstly, the LIFG exhibited an elevated response to degraded versus clear speech, but only when attention was directed towards the speech. This attention-dependent increase in frontal brain activation may be a neural marker for effortful listening. Secondly, during attentive listening to degraded speech, the haemodynamic response peaked significantly later in the LIFG than in superior temporal cortex, possibly reflecting the engagement of working memory to help reconstruct the meaning of degraded sentences. The homologous region in the right hemisphere may play an equivalent role to the LIFG in some left-handed individuals. In conclusion, fNIRS holds promise as a flexible tool to examine the neural signature of effortful listening.



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