Audiology by Alexandros G. Sfakianakis: 03/23/17

Πέμπτη 23 Μαρτίου 2017

Segmental Kinematic Analysis of Planovalgus Feet During Walking in Children with Cerebral Palsy

Publication date: Available online 23 March 2017
Source:Gait & Posture
Author(s): Karen M. Kruger, Katherine A. Konop, Joseph J. Krzak, Adam Graf, Haluk Altiok, Peter A. Smith, Gerald F. Harris
Pes planovalgus (flatfoot) is a common deformity among children with cerebral palsy. The Milwaukee Foot Model (MFM), a multi-segmental kinematic foot model, which uses radiography to align the underlying bony anatomy with reflective surface markers, was used to evaluate 20 pediatric participants (30 feet) with planovalgus secondary to cerebral palsy prior to surgery. Three-dimensional kinematics of the tibia, hindfoot, forefoot, and hallux segments are reported and compared to an age-matched control set of typically-developing children. Most results were consistent with known characteristics of the deformity and showed decreased plantar flexion of the forefoot relative to hindfoot, increased forefoot abduction, and decreased ranges of motion during push-off in the planovalgus group. Interestingly, while forefoot characteristics were uniformly distributed in a common direction in the transverse plane, there was marked variability of forefoot and hindfoot coronal plane and hindfoot transverse plane positioning. The key finding of these data was the radiographic indexing of the MFM was able to show flat feet in cerebral palsy do not always demonstrate more hindfoot eversion than the typically-developing hindfoot. The coronal plane kinematics of the hindfoot show cases planovalgus feet with the hindfoot in inversion, eversion, and neutral. Along with other metrics, the MFM can be a valuable tool for monitoring kinematic deformity, facilitating clinical decision making, and providing a quantitative analysis of surgical effects on the planovalgus foot.

from #Audiology via ola Kala on Inoreader http://ift.tt/2nXbtBM
via IFTTT

The high cost of swing leg circumduction during human walking

Publication date: Available online 23 March 2017
Source:Gait & Posture
Author(s): K. Alex Shorter, Amy Wu, Arthur D. Kuo
Humans tend to walk economically, with preferred step width and length corresponding to an energetic optimum. In the case of step width, it is costlier to walk with either wider or narrower steps than normally preferred. Wider steps require more mechanical work to redirect the body’s motion laterally with each step, but the cost for narrower steps remains unexplained. Here we show that narrow steps are costly because they require the swing leg to be circumducted around the stance leg. Healthy adults (N=8) were tested walking with varying levels of circumduction, induced through lightweight, physical obstructions (“Fins”) attached medially to the lower legs, during treadmill walking at fixed speed (1.25 m⋅s⁻¹) and step width. The net rate of metabolic energy expenditure increased approximately with the square of circumduction amplitude, by about 50% for an amplitude (measured at mid-swing) of about 18cm. Subjects also generated greater stance leg torque and more arm motion to counter the circumduction, among other compensatory motions that may contribute to energy expenditure. The costs of producing and countering lateral leg motion partially explains the poorer economy of some gait pathologies where circumduction may occur, for example stiff-knee gait. And for healthy individuals, it explains how the energetically optimal average step width, along with the additional variability inherent with multiple steps, should be narrow enough to avoid excessive redirection of the body, yet wide enough to avoid costly circumduction. Humans appear to prefer a step width that compromises between the competing energetic costs for either wider or narrower steps.

from #Audiology via ola Kala on Inoreader http://ift.tt/2nO2EgS
via IFTTT

Immediate effects of shoes inducing ankle-destabilization around Henke's axis during challenging walking gaits: Gait kinematics and peroneal muscles activities

Publication date: Available online 23 March 2017
Source:Gait & Posture
Author(s): Lilian Fautrelle, Alexandre Kubicki, Nicolas Babault, Christos Paizis
Due to its high frequency of occurrence, as well as possible residual symptoms, proper treatment of lateral ankle sprains (LAS) is important. From a physiological point of view, increasing the quantity of electromyographic (EMG) activity in the peroneal muscles will mechanically improve the functional stability of the ankle joint. The present study investigated the immediate effects of an ankle destabilization device (ADD) specifically designed to induce imbalances along the Henke’s axis during 3 challenging walking tasks. As the effects of such a device have to be tested on healthy participants before being implemented in rehabilitation programs, 12 healthy participants performed 3 different types of walking (normal, aligned, and jumping walking) while the EMG activities in four peroneal muscles and the main gait kinematics parameters were recorded. Our results clearly demonstrated that wearing the ADD during these different walking tasks significantly increased EMG activities in the four peroneal muscles (increases from 9 to 33% on average depending on the muscle and the walking condition) while maintaining previous gait kinematic patterns. Our study shows that an ADD coupled with walking or jumping tasks is able to improve neuromuscular activity. It should therefore be useful for ankle rehabilitation therapy and the prevention of LAS.

from #Audiology via ola Kala on Inoreader http://ift.tt/2nWZBiU
via IFTTT

Directional Asymmetries in Vowel Perception of Adult Nonnative Listeners Do Not Change Over Time With Language Experience

Purpose

This study tested an assumption of the Natural Referent Vowel (Polka & Bohn, 2011) framework, namely, that directional asymmetries in adult vowel perception can be influenced by language experience.

Method

Data from participants reported in Escudero and Williams (2014) were analyzed. Spanish participants categorized the Dutch vowels /aː/ and /ɑ/ in 2 separate sessions: before and after vowel distributional training. Sessions were 12 months apart. Categorization was assessed using the XAB task, where on each trial participants heard 3 sounds sequentially (first X, then A, then B) and had to decide whether X was more similar to A or B.

Results

Before training, participants exhibited a directional asymmetry in line with the prediction of Natural Referent Vowel. Specifically, Spanish listeners performed worse when the vowel change from X to A was a change from peripheral to central vowel (/ɑ/ to /aː/). However, this asymmetry was maintained 12 months later, even though distributional training improved vowel categorization performance.

Conclusions

Improvements in adult nonnative vowel categorization accuracy are not explained by attenuation of directional asymmetries. Directional asymmetries in vowel perception are altered during native language acquisition, but may possibly be impervious to nonnative language experiences in adulthood.

from #Audiology via ola Kala on Inoreader http://ift.tt/2nsS2mz
via IFTTT

Directional Asymmetries in Vowel Perception of Adult Nonnative Listeners Do Not Change Over Time With Language Experience

Purpose

This study tested an assumption of the Natural Referent Vowel (Polka & Bohn, 2011) framework, namely, that directional asymmetries in adult vowel perception can be influenced by language experience.

Method

Results

Conclusions

Improvements in adult nonnative vowel categorization accuracy are not explained by attenuation of directional asymmetries. Directional asymmetries in vowel perception are altered during native language acquisition, but may possibly be impervious to nonnative language experiences in adulthood.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nsS2mz
via IFTTT

Directional Asymmetries in Vowel Perception of Adult Nonnative Listeners Do Not Change Over Time With Language Experience

Purpose

This study tested an assumption of the Natural Referent Vowel (Polka & Bohn, 2011) framework, namely, that directional asymmetries in adult vowel perception can be influenced by language experience.

Method

Results

Conclusions

Validation of questionnaire-reported hearing with medical records: A report from the Swiss Childhood Cancer Survivor Study

by Annette Weiss, Grit Sommer, Rahel Kuonen, Katrin Scheinemann, Michael Grotzer, Martin Kompis, Claudia E. Kuehni, on behalf of the Swiss Paediatric Oncology Group (SPOG)

Background

Hearing loss is a potential late effect after childhood cancer. Questionnaires are often used to assess hearing in large cohorts of childhood cancer survivors and it is important to know if they can provide valid measures of hearing loss. We therefore assessed agreement and validity of questionnaire-reported hearing in childhood cancer survivors using medical records as reference.

Procedure

In this validation study, we studied 361 survivors of childhood cancer from the Swiss Childhood Cancer Survivor Study (SCCSS) who had been diagnosed after 1989 and had been exposed to ototoxic cancer treatment. Questionnaire-reported hearing was compared to the information in medical records. Hearing loss was defined as ≥ grade 1 according to the SIOP Boston Ototoxicity Scale. We assessed agreement and validity of questionnaire-reported hearing overall and stratified by questionnaire respondents (survivor or parent), sociodemographic characteristics, time between follow-up and questionnaire and severity of hearing loss.

Results

Questionnaire reports agreed with medical records in 85% of respondents (kappa 0.62), normal hearing was correctly assessed in 92% of those with normal hearing (n = 249), and hearing loss was correctly assessed in 69% of those with hearing loss (n = 112). Sensitivity of the questionnaires was 92%, 74%, and 39% for assessment of severe, moderate and mild bilateral hearing loss; and 50%, 33% and 10% for severe, moderate and mild unilateral hearing loss, respectively. Results did not differ by sociodemographic characteristics of the respondents, and survivor- and parent-reports were equally valid.

Conclusions

Questionnaires are a useful tool to assess hearing in large cohorts of childhood cancer survivors, but underestimate mild and unilateral hearing loss. Further research should investigate whether the addition of questions with higher sensitivity for mild degrees of hearing loss could improve the results.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nHQRA4
via IFTTT

Prevalence of Voice Disorders in Singers: Systematic Review and Meta-Analysis

Publication date: Available online 23 March 2017
Source:Journal of Voice
Author(s): Pedro Melo Pestana, Susana Vaz-Freitas, Maria Conceição Manso
ObjectiveThe study aimed to review the prevalence of self-reported voice disorders in singers.Study DesignThe study is a systematic review and meta-analysis.MethodsA systematic review of five major scientific databases was conducted. An extensive search strategy was used considering the rules of each database. Original articles were included only if they had data related to self-perception of dysphonia in the past. Furthermore, heterogeneity and its relative significance were assessed.ResultsThere were 2371 articles identified; duplicates were deleted, screenings were conducted, and inclusion and exclusion criteria were applied. The final analysis was conducted on 11 studies. The most implemented instruments for the study were customized questionnaires. The findings about singing styles, voice use, and age were found to be different among subjects. The overall prevalence of self-reported dysphonia in singers was 46.09% (95% confidence interval: 38.16–54.12). The heterogeneity was considerable among the studied samples (I² = 90.59%). Four groups were then established—students, teachers, classical, and nonclassical—and compared regarding overall prevalence (21.76% in students, and significantly higher and nondifferent in the other three groups, 55.15%, 40.53%, and 46.96%, respectively) and heterogeneity (low only for the students' studies).ConclusionAlthough with low homogeneity, singers present a high prevalence of self-perceived dysphonia over their careers. Singing students were the group with a lower prevalence. On the other hand, traditional and popular music singers, as well as singing teachers, revealed significantly higher prevalence of self-perceived dysphonia. Overall, singers are likely to report voice disorders, no matter their singing style or skills. This highlights the need of a preventive approach to address voice disorders in traditional and untrained singers.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nbg4QD
via IFTTT

Tinnitus Retraining Therapy

Studies suggest that approximately 20 percent of people in the United States have experienced or live with chronic tinnitus. The affliction also plagues up to half of returning combat soldiers. While not a cure, tinnitus retraining therapy was designed to help people overcome the anxiety caused by the condition.

Tinnitus Explained

Tinnitus involves the perception of an unusual noise or ringing in one or both ears. The condition may occur as a result of hearing loss due to aging, a circulatory system disorder or an ear injury. Sometimes, a medication may produce the symptom as a side effect. Discontinuing the medication may stop the problem. For some people, the symptoms last briefly for a few weeks or months before disappearing without intervention. However for others, the noise becomes a chronic annoyance. In these patients, tinnitus commonly causes depression or interferes with sleep.

Tinnitus Retraining Therapy

Teams of hearing professionals administer tinnitus retraining therapy. The process involves learning techniques to deal with the inconvenience on both a conscious and a subconscious level. Treatment might be compared with moving into a home near a railroad track. Initially, the noise is troubling. However, after time, the occupants barely notice. The therapy revolves around three steps.

• Specialists perform an ear examination, obtain a thorough patient history and learn about the individual’s daily living activities and habits.

• A broad-band noise generating device is placed behind the ear, which diverts attention from the perceived noise, which seemingly originates from inside the affected ear.

• Emotional and psychological support and therapy teaches the patient to ignore the tinnitus. The clients are taught deep relaxation and stress management techniques. Therapy serves to reduce or eliminate the anxiety associated with the condition. In this way, the patient realizes the condition is not a health hazard and learns to spend less time concentrating on the annoyance.

The length of tinnitus retraining therapy varies from client to client and the facility involved with providing treatment. The ultimate goal is for the patient to become used to the disturbance and be able to carry on with normal daily routines.

Additional Options

For some, low-level sound generators prove as annoying as the tinnitus itself. For these people, a combination of hearing aids designed to amplify background sounds along with noise maskers prove a more effective treatment. Other people benefit from neuromonics acoustic desensitization protocols, which combines counseling with a processor and high fidelity earphones that transmit filtered, pleasant music to the wearer.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nrocP0
via IFTTT

Neck auscultation using acoustic analysis to determine the time and the sounds of swallowing mechanics

Publication date: Available online 22 March 2017
Source:Revista de Logopedia, Foniatría y Audiología
Author(s): William Armando Álvarez Anaya
IntroductionAlthough neck auscultation is a subjective diagnostic method that can identify the sounds and mechanical disruptions of swallowing, the acoustic analysis provides greater objectivity as it makes these sounds visible and the physiology of swallowing can clearly be seen.ObjectiveTo determine the time and the sounds of swallowing in people 20–50 years of age in the city of Bucaramanga, Colombia.Materials and methodsA quantitative descriptive study that included the swallowing process of 306 participants. These were recorded by acoustic analysis using a computer application and neck auscultation to determine the sounds and time whilst food passed from the mouth to the esophagus.ResultsOf the 306 participants, 50.9% were between 20 and 31 years, and 57.5% were women between 20 and 50 years. The mean swallowing time in this study was .387s (compared to a mean of .5s in studies in other countries), with 16.3% taking between 0225 and 0281s.ConclusionsIdentifying the sounds of swallowing using acoustic analysis improves the therapeutic processes performed by audiologists in patients with dysphagia.

from #Audiology via ola Kala on Inoreader http://ift.tt/2mUbEfi
via IFTTT

Neck auscultation using acoustic analysis to determine the time and the sounds of swallowing mechanics

Publication date: Available online 22 March 2017
Source:Revista de Logopedia, Foniatría y Audiología
Author(s): William Armando Álvarez Anaya
IntroductionAlthough neck auscultation is a subjective diagnostic method that can identify the sounds and mechanical disruptions of swallowing, the acoustic analysis provides greater objectivity as it makes these sounds visible and the physiology of swallowing can clearly be seen.ObjectiveTo determine the time and the sounds of swallowing in people 20–50 years of age in the city of Bucaramanga, Colombia.Materials and methodsA quantitative descriptive study that included the swallowing process of 306 participants. These were recorded by acoustic analysis using a computer application and neck auscultation to determine the sounds and time whilst food passed from the mouth to the esophagus.ResultsOf the 306 participants, 50.9% were between 20 and 31 years, and 57.5% were women between 20 and 50 years. The mean swallowing time in this study was .387s (compared to a mean of .5s in studies in other countries), with 16.3% taking between 0225 and 0281s.ConclusionsIdentifying the sounds of swallowing using acoustic analysis improves the therapeutic processes performed by audiologists in patients with dysphagia.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mUbEfi
via IFTTT

Delayed Otolith Development Does Not Impair Vestibular Circuit Formation in Zebrafish

Abstract

What is the role of normally patterned sensory signaling in development of vestibular circuits? For technical reasons, including the difficulty in depriving animals of vestibular inputs, this has been a challenging question to address. Here we take advantage of a vestibular-deficient zebrafish mutant, rock solo ^AN66 , in order to examine whether normal sensory input is required for formation of vestibular-driven postural circuitry. We show that the rock solo ^AN66 mutant is a splice site mutation in the secreted glycoprotein otogelin (otog), which we confirm through both whole genome sequencing and complementation with an otog early termination mutant. Using confocal microscopy, we find that elements of postural circuits are anatomically normal in rock solo ^AN66 mutants, including hair cells, vestibular ganglion neurons, and vestibulospinal neurons. Surprisingly, the balance and postural deficits that are readily apparent in younger larvae disappear around 2 weeks of age. We demonstrate that this behavioral recovery follows the delayed development of the anterior (utricular) otolith, which appears around 14 days post-fertilization (dpf), compared to 1 dpf in WT. These findings indicate that utricular signaling is not required for normal structural development of the inner ear and vestibular nucleus neurons. Furthermore, despite the otolith’s developmental delay until well after postural behaviors normally appear, downstream circuits can drive righting reflexes within ∼1–2 days of its arrival, indicating that vestibular circuit wiring is not impaired by a delay in patterned activity. The functional recovery of postural behaviors may shed light on why humans with mutations in otog exhibit only subclinical vestibular deficits.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nVb6rs
via IFTTT

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Am J Med Genet A. 2017 Apr;173(4):1051-1055

Authors: Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M

Abstract
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.

PMID: 28328138 [PubMed - in process]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mvOjFp
via IFTTT

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Am J Med Genet A. 2017 Apr;173(4):1102-1108

Authors: Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I

Abstract
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p.Gly874Arg, who presented at birth with bilateral hip dislocation and short stature. At 3 months, additional dysmorphic features were noted and at 18 months her radiographic skeletal abnormalities were suggestive of an underlying spondyloepimetaphyseal dysplasia (SEMD). Retrospective analysis of the neonatal radiographs confirmed that the skeletal changes were present at birth. It was only with time that several of the other manifestations of the CAGSSS emerged, namely, cataracts, peripheral neuropathy, and hearing loss. Growth hormone deficiency has not (yet) manifested. We present her clinical features and particularly highlight her skeletal findings, which confirm the presence of a primary SEMD skeletal dysplasia in a growing list of mitochondrial-related disorders including CAGSSS, CODAS, EVEN-PLUS, and X-linked SEMD-MR syndromes.

PMID: 28328135 [PubMed - in process]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2o85gC9
via IFTTT

Supporting a Youth with Cerebellar Ataxia into Adolescence.

Supporting a Youth with Cerebellar Ataxia into Adolescence.

J Dev Behav Pediatr. 2017 Mar 17;:

Authors: Meneses V, Gonzalez-Castillo Z, Edgar VB, Augustyn M

Abstract
CASE: Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia.At age 2, Zoe saw a neurologist and brain MRI revealed cerebellar atrophy. She recently saw a geneticist and genetic studies are pending. Parents report receiving "little" information regarding prognosis; through their own research, they read about individuals having similar symptoms in adulthood, with a degenerative pattern. They worry that Zoe is "still very young and we do not know what her future will be like."Despite ongoing speech and feeding challenges, the parents report difficulty finding a speech and language therapist in their area. Zoe does see an otolaryngologist for frequent otitis media and hearing loss and an ophthalmologist for vision problems. Still, she continues to fall further behind in school. Furthermore, she is intensely afraid of falling at school and has few friends, resulting in the family being at a loss regarding "what to do about school."She lives with both parents and 2 healthy older sisters. Her mother has Crohn's disease and has been unable to work. Her maternal aunt is close to Zoe and has hypothyroidism. Her father works as an insurance agent and resources have been "tight." Zoe's mother describes "making" Zoe go out to the movies, "otherwise she just stays home." Zoe usually needs assistance to walk in public, to keep from stumbling. Parents share that simply being in a public place or meeting a new physician may trigger emesis. Zoe does enjoy interacting with neighborhood children and says she wants to be "normal," wear nail polish, and date. She seeks independence, often refusing to use her wheelchair. Parents feel she requires more intensive occupational and physical therapy.On examination, she is very slender with hypertelorism and nystagmus. Holding an emesis bag, she gags intermittently, producing clear secretions. She has a notable tremor and walks slightly stooped with wide-based gait. Her few words demonstrate articulation differences and cognitive expression characteristic of a younger child. She wears light make-up and age-appropriate clothes. She asks, "When can I go home?"At the end of the visit, parents share their worry that Zoe is "so young and we do not know anything, what to expect, or what to tell her." As the family's new medical home, they ask you to weigh in on what to do next to best support her? Where do you begin?

PMID: 28323747 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXH1Xh
via IFTTT

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Am J Med Genet A. 2017 Mar 21;:

Authors: Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L

Abstract
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in COL27A1 (c.3556-2A>G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non-progressive sensorineural hearing loss not reported previously. The variant segregated in the family in an autosomal recessive manner and we show that the variant alters mRNA splicing. Furthermore, relative quantitative analysis revealed a marked reduction in gene expression in the proposita compared to healthy controls. Segregation analysis of heterozygous variants, related to hearing loss, identified by whole exome sequencing in the child (ILDR1: c.1159T>C, SYNE4: c.313G>C, and GPR98: c.18746T>G) excluded them from being responsible for the hearing loss in the proposita. In addition, the products of these genes are not interacting in the same pathway and have only been reported to cause deafness in an autosomal recessive manner. Therefore, we conclude that the novel splice-site variant identified in COL27A1 is the most likely cause for Steel syndrome in this family and that the hearing loss is part of this syndrome's phenotype.

PMID: 28322503 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXFgJG
via IFTTT

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Am J Med Genet A. 2017 Mar 21;:

Authors: Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC

Abstract
STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c.651G>A (p.Trp217X; NM_152274), in FAM58A in the proband, mother, and maternal half-sister. This pedigree represents the 11-13th patients described with STAR syndrome and the third instance of familial inheritance. To our knowledge, this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome.

PMID: 28322501 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXCEeL
via IFTTT

Mitochondrial mutations in maternally inherited hearing loss.

Mitochondrial mutations in maternally inherited hearing loss.

BMC Med Genet. 2017 Mar 20;18(1):32

Authors: Mutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T

Abstract
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL.
METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL. Sequencing of additional mtDNA regions was performed for five subjects meeting the clinical criteria, but the screening results were negative.
RESULTS: Among the nine cases meeting the five clinical criteria detailed above, three had the m.1555A > G mutation in MTRNR1, one had a m.3243A > G mutation in MTTL1, and one case had a m.7511T > C mutation in MTTS1. In the family with the m.7511T > C mutation, penetrance of SNHL among maternally related subjects was 9/17 (53%). The age at onset varied from birth (congenital) to adulthood. Hearing levels varied from normal to moderately impaired, unlike previously reported subjects with this mutation, where some maternal family members presented with profound SNHL. Family members with the m.7511T > C mutation and SNHL did not exhibit any specific clinical characteristics distinct from those of other individuals with SNHL and different mtDNA mutations. Among the 136 probands who did not meet the criteria detailed above, one case had the m.1555A > G mutation, and three cases had the m.3243A > G mutation.
CONCLUSIONS: Since five of nine probands with the clinical criteria used in this study had mtDNA mutations, these criteria may be helpful for identification of candidate patients likely to have mtDNA mutations.

PMID: 28320335 [PubMed - in process]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2nqzSSa
via IFTTT

Early childhood otitis media and later school performance - A prospective cohort study of associations.

http:--linkinghub.elsevier.com-ihub-imag

Early childhood otitis media and later school performance - A prospective cohort study of associations.

Int J Pediatr Otorhinolaryngol. 2017 Mar;94:87-94

Authors: Fougner V, Kørvel-Hanquist A, Koch A, Dammeyer J, Niclasen J, Lous J, Homøe P

Abstract
INTRODUCTION: Otitis media (OM) is a common disease in childhood and hearing loss (HL) is the most common complication. Prolonged HL may lead to language delay and cognitive difficulties. However, the consequences of HL due to OM are not fully understood. The aim of this study was to determine the possible association between number of OM episodes in childhood and self-rated school performance controlling for potential confounders.
METHODS: Prospectively gathered systematic interview data on OM episodes in early childhood and school performance at 11 years of age were obtained from The Danish National Birth Cohort, involving >100,000 individual pregnancies and their offspring. We defined four exposure groups (0, 1-3, 4-6 and ≥7 OM episodes) and assessed general school performance, mathematics and literacy. Possible confounders were recognized à priori and associations were determined using proportional odds regression.
RESULTS: Out of 94,745 successful pregnancies, 35,946 children without malformations and their parents completed a questionnaire at age 11 years. No associations were observed between number of OM episodes and school performance, even in children with ≥7 OM episodes.
CONCLUSION: This national birth-cohort study did not support the hypothesis that the number of OM episodes in childhood is associated with reduced self-reported school performance in children at 11 years of age.

PMID: 28167020 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXFcti
via IFTTT

Childhood hearing loss; a need for primary health care.

Childhood hearing loss; a need for primary health care.

Int J Pediatr Otorhinolaryngol. 2017 Mar;94:117-120

Authors: Ogunkeyede SA, Adebola SO, Salman A, Lasisi AO

Abstract
INTRODUCTION: Essential health care for children is the care of the ear.
METHODS: A cross-sectional descriptive study of 155 children with hearing loss.
RESULTS: A total of 155 pupils with hearing impairment and their parents were interviewed; 77(49.7%) males and 78(50.3%) females, age ranged from 6 to 15years (mean 9.11 ± 2.5 years). None of the participants had neonatal hearing screening. Parents detected the hearing loss at a mean age of 2.3 ± 1.1years. Initial care was given by community health workers and general medical practitioners, only 21 participants had otolaryngological consultation and none had audiological rehabilitation. Barriers to accessing services were financial constraints, poor awareness and non-availability of otolaryngological service for the hearing impaired in the communities.
CONCLUSION: Hearing impaired children in Nigeria have poor access to ear care. There is a need to create awareness of otological services and incorporate ear-care into the primary health care.

PMID: 28167001 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mvEvLs
via IFTTT

Linking hearing impairment, employment and education.

Linking hearing impairment, employment and education.

Public Health. 2016 Dec;141:130-135

Authors: Garramiola-Bilbao I, Rodríguez-Álvarez A

Abstract
OBJECTIVE: To analyse the impact that hearing impairment and other relevant variables have on the education and employment situation of those affected by it in the Principality of Asturias, Spain.
METHODS: To achieve this objective, two discrete choice models (probit) are presented. The first one associates, among other variables, hearing impairment with the individual's employment status and in the second model, an ordered multinomial probit model is used to analyse, among other variables, how the impairment affects the individual's level of studies.
RESULTS: Although the levels of statistical significance are low, the model's estimates appear to indicate that hearing impairment in Spain increases the probability of being unemployed by 18.4% (P = 0.09). Additionally, the people suffering from such a disability are, compared with the rest of the population, 10.2% (P = 0.05) more likely to have only completed elementary studies without pursuing any further education.
CONCLUSIONS: If an individual is able to reach a level of secondary or higher education thus enabling a future incorporation to the work place, a benefit is obviously generated for both the individual as well as society (which has additionally incurred an investment in human capital). In this regard, encouraging the education of hearing-impaired students would profit both the individual (who receives an early integration as a child), which may contribute positively to family and social factors, as well as society who have incurred the investment. Therefore, our result could indicate that programmes created to support individuals with this type of disability represent an increase of welfare both individually and socially.

PMID: 27931988 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXsrPD
via IFTTT

Evaluation of cochlear functions in children with Familial Mediterranean Fever.

Evaluation of cochlear functions in children with Familial Mediterranean Fever.

Int J Pediatr Otorhinolaryngol. 2016 Aug;87:139-42

Authors: Lordoglu B, Acar B, Yazilitas F, Ozlu SG, Senel S

Abstract
OBJECTIVES: To evaluate cochlear functions in patients with Familial Mediterranean Fever in relation to the disease severity score and treatment duration.
METHODS: 50 patients (4-18 years) who had been followed-up with the diagnosis of FMF and regularly receiving appropriate colchicine treatment and 39 healthy controls were included in the study. All the patients and controls were evaluated by audiologic evaluation, including high-frequency pure-tone audiometry and distortion product otoacoustic emission tests (DPOAE). The disease severity was determined by scoring system developed by Pras et al.
RESULTS: Fifty patients (52% female, 48% male; mean age12.2 ± 4.1 years) and 39 controls (58.9% female, 41.1% male, mean age 11.1 ± 3.4 years) were enrolled the study. The pure tone average of FMF patients was significantly higher than that of the control group at 500, 4000, and 8000 Hz frequencies. The patients' DPOAE signal values at 6 kHz, 8 kHz frequencies and SNR values at 8 kHz were significantly higher than control group. The patients' audiometry and DPOAE results were compared with the disease severity scores. Pure tone average was significantly higher in severe and moderate patient groups compared to the mild patient group at 2000 Hz frequency. DPOAE signal values showed statistically significant differences between the patient severity scores at 1.4 and 2.8 kHz frequencies. The mean colchicine treatment duration was found to be 5.1 ± 3.7 years. There were significant differences at 250 and 500 Hz frequencies when patients' audiometry results were compared with the treatment periods.
CONCLUSIONS: FMF affects cochlear functions particularly at high frequencies.

PMID: 27368461 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mvOiBl
via IFTTT

Prevalence of 2.2 per mille of significant hearing loss at school age suggests rescreening after NHS.

Prevalence of 2.2 per mille of significant hearing loss at school age suggests rescreening after NHS.

Int J Pediatr Otorhinolaryngol. 2016 Aug;87:121-5

Authors: Holzinger D, Weishaupt A, Fellinger P, Beitel C, Fellinger J

Abstract
OBJECTIVES: The study aims to determine the prevalence of different degrees of significant hearing loss in a complete sample of Austrian school-age children born between 1997 and 2001 living in the federal state of Carinthia and to evaluate the role of Newborn Hearing Screening (NHS) in the identification of later hearing loss.
METHODS: In Carinthia, all school-age children with significant hearing loss (mean pure tone average in the better ear above 40 dB) are registered by the Department of Education. From five complete birth cohorts from 1997 to 2001 (n = 28.171) all the children with sensorineural hearing loss (n = 61, mean age 10.5, age range 7.5-13.6 years) were assessed for their hearing threshold and level of cognitive functioning. Socio-demographic data, including information about NHS and amplification with hearing devices, were collected from parents and teachers using structured interviews.
RESULTS: 2.2 children per thousand (49.2% male) were found to be affected by significant bilateral hearing loss at school age, with 36.1% of them having a moderate hearing loss, 34.4% severe, and 29.5% profound. Fourteen children (23.0%) used cochlear implants. Their mean nonverbal IQ was 93.4 (SD 23.1), including 13.1% of children with intellectual disabilities (IQ < 70). Of those who had undergone NHS (85.2%), 50.0% had passed the screening according to parents' reports.
CONCLUSIONS: A rate of significant hearing loss in school-age children was observed which was twice the rate found in newborns. Ongoing awareness of late-onset hearing loss to improve identification and hearing screening at school entry are recommended.

PMID: 27368457 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2mXs2MY
via IFTTT

Knowledge and attitude (KA) survey regarding infant hearing loss in Karnataka, India.

Knowledge and attitude (KA) survey regarding infant hearing loss in Karnataka, India.

Int J Pediatr Otorhinolaryngol. 2016 Jun;85:1-4

Authors: Ravi R, Yerraguntla K, Gunjawate DR, Rajashekhar B, Lewis LE, Guddattu V

Abstract
INTRODUCTION: The support provided and the decisions taken by mothers determine the success of Universal Newborn Hearing Screening (UNHS). Attempts at exploring the existing knowledge-attitude among mothers is crucial to create/modify the existing screening programs. The present study attempts to explore the knowledge and attitude toward infant hearing loss (HL) among mothers of newborns in the Indian state of Karnataka.
METHOD: A cross-sectional survey was conducted among 219 mothers of newborns in Karnataka, India. The questionnaire was framed from existing literature and consisted of 19 questions assessing knowledge and attitude toward infant HL to be rated on a three-point scale (no, not sure, yes). Descriptive statistics and Cronbach's α were used to analyze the data.
RESULTS: Mothers exhibited good knowledge of risk factors; noise (70.3%) and ear discharge (54.3%). More than 75% agreed that treatment for HL is available and that these children can attend school. The questions of superstitions and cultural beliefs yielded mixed responses. A large number of mothers expressed desire to have their children tested at birth (84.9%) and were concerned about their children's hearing (87.7%). Yet only 54.3% stated that they would allow their children to wear hearing aids.
SUMMARY AND CONCLUSION: The present study is an attempt to understand the knowledge and attitude of mothers toward infant HL in Karnataka and facilitate identification of potential areas of less knowledge as a reference for endeavors of enhancement. It further highlights the need for implementing public awareness programs to improve knowledge and attitude of mothers toward infant HL for better implementation of UNHS.

PMID: 27240486 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2o87AJx
via IFTTT

Acoustic startle modification as a tool for evaluating auditory function of the mouse: Progress, pitfalls, and potential.

Acoustic startle modification as a tool for evaluating auditory function of the mouse: Progress, pitfalls, and potential.

Neurosci Biobehav Rev. 2017 Mar 18;:

Authors: Lauer AM, Behrens D, Klump G

Abstract
Acoustic startle response (ASR) modification procedures, especially prepulse inhibition (PPI), are increasingly used as behavioral measures of auditory processing and sensorimotor gating in rodents due to their perceived ease of implementation and short testing times. In practice, ASR and PPI procedures are extremely variable across animals, experimental setups, and studies, and the interpretation of results is subject to numerous caveats and confounding influences. We review considerations for modification of the ASR using acoustic stimuli, and we compare the sensitivity of PPI procedures to more traditional operant psychoacoustic techniques. We also discuss non-auditory variables that must be considered. We conclude that ASR and PPI measures cannot substitute for traditional operant techniques due to their low sensitivity. Additionally, a substantial amount of pilot testing must be performed to properly optimize an ASR modification experiment, negating any time benefit over operant conditioning. Nevertheless, there are some circumstances where ASR measures may be the only option for assessing auditory behavior, such as when testing mouse strains with early-onset hearing loss or learning impairments.

PMID: 28327385 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/2mXzkAn
via IFTTT

Do patients with Ménière's disease have attacks of syncope?

Do patients with Ménière's disease have attacks of syncope?

J Neurol. 2017 Mar 20;:

Authors: Pyykkö I, Manchaiah V, Zou J, Levo H, Kentala E

Abstract
The aim of the present study was to evaluate the prevalence and associated factors for syncope among patients with Ménière's disease (MD). An attack of syncope was defined as a sudden and transient loss of consciousness, which subsides spontaneously and without a localizing neurological deficit. The study used an across-sectional survey design. Information from a database consisting of 961 individuals was collected from the Finnish Ménière Association. The data contained case histories, general health-related quality of life (HRQoL), and impact measurements of the complaints. In the current study sample, syncope occurred in 12.3% of the patients with MD. It was more prevalent among elderly persons and among those with a longer duration of MD. Syncope was significantly associated with disturbances of otolith function reflected as Tumarkin attacks, gait and balance problems, environmental change of pressure, and physical strain. It was also associated with visual blurring; in fact, patients with otolith dysfunction in MD often experience visual field changes. It was also associated with headache, but not with migraine. Syncope was experienced as frightening and HRQoL was significantly worsened. The patient had higher anxiety scores, and suffered more from fatigue. The results demonstrate that neurally mediated syncope occurs in patients with an advanced form of MD who suffer from Tumarkin attacks due to failure in otolith function. The mechanism seems to be triggered through the vestibular sympathetic reflex when the otolith system fails due to disrupted utricular otolithic membrane mediate erroneous positional information from the otolith organ to the vasomotor centres in the brain stem and medulla.

PMID: 28321563 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/2nqzUcK
via IFTTT

Mitochondrial mutations in maternally inherited hearing loss.

Mitochondrial mutations in maternally inherited hearing loss.

BMC Med Genet. 2017 Mar 20;18(1):32

Authors: Mutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T

PMID: 28320335 [PubMed - in process]

from #Audiology via ola Kala on Inoreader http://ift.tt/2nqzSSa
via IFTTT

Acoustic startle modification as a tool for evaluating auditory function of the mouse: Progress, pitfalls, and potential.

Acoustic startle modification as a tool for evaluating auditory function of the mouse: Progress, pitfalls, and potential.

Neurosci Biobehav Rev. 2017 Mar 18;:

Authors: Lauer AM, Behrens D, Klump G

PMID: 28327385 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/2mXzkAn
via IFTTT

Do patients with Ménière's disease have attacks of syncope?

Do patients with Ménière's disease have attacks of syncope?

J Neurol. 2017 Mar 20;:

Authors: Pyykkö I, Manchaiah V, Zou J, Levo H, Kentala E

PMID: 28321563 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/2nqzUcK
via IFTTT

Mitochondrial mutations in maternally inherited hearing loss.

Mitochondrial mutations in maternally inherited hearing loss.

BMC Med Genet. 2017 Mar 20;18(1):32

Authors: Mutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T

PMID: 28320335 [PubMed - in process]

from #Audiology via ola Kala on Inoreader http://ift.tt/2nqzSSa
via IFTTT

Πληροφορίες

Πέμπτη 23 Μαρτίου 2017

Abstract