Τετάρτη 14 Σεπτεμβρίου 2016

Neural Representation of Interaural Time Differences in Humans—an Objective Measure that Matches Behavioural Performance

Abstract

Humans, and many other species, exploit small differences in the timing of sounds at the two ears (interaural time difference, ITD) to locate their source and to enhance their detection in background noise. Despite their importance in everyday listening tasks, however, the neural representation of ITDs in human listeners remains poorly understood, and few studies have assessed ITD sensitivity to a similar resolution to that reported perceptually. Here, we report an objective measure of ITD sensitivity in electroencephalography (EEG) signals to abrupt modulations in the interaural phase of amplitude-modulated low-frequency tones. Specifically, we measured following responses to amplitude-modulated sinusoidal signals (520-Hz carrier) in which the stimulus phase at each ear was manipulated to produce discrete interaural phase modulations at minima in the modulation cycle—interaural phase modulation following responses (IPM-FRs). The depth of the interaural phase modulation (IPM) was defined by the sign and the magnitude of the interaural phase difference (IPD) transition which was symmetric around zero. Seven IPM depths were assessed over the range of ±22 ° to ±157 °, corresponding to ITDs largely within the range experienced by human listeners under natural listening conditions (120 to 841 μs). The magnitude of the IPM-FR was maximal for IPM depths in the range of ±67.6 ° to ±112.6 ° and correlated well with performance in a behavioural experiment in which listeners were required to discriminate sounds containing IPMs from those with only static IPDs. The IPM-FR provides a sensitive measure of binaural processing in the human brain and has a potential to assess temporal binaural processing.



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It takes two: The role of family-centered practices in communication intervention

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Publication date: Available online 14 September 2016
Source:Revista de Logopedia, Foniatría y Audiología
Author(s): Marilyn Espe-Sherwindt, Ana Maria Serrano
Based on an ever-growing body of research, family-centered practices are a recommended, evidence-based principle of early childhood intervention provided by speech-language pathologists and audiologists, as well as by all other disciplines involved in providing supports and services to young children with delays and disabilities and their families. Despite this, research also suggests that (1) the concept of family-centered practices is often misunderstood, and (2) a gap continues to exist between recommended and the actual use of family-centered practices across all disciplines. In this article, we describe the evidence behind family-centered practices, how and why family-centered practices have become a key aspect of evidence-based early childhood communication intervention, and the defining characteristics and components of family-centered practices. In order to accomplish this goal the authors did an extensive research review of the literature. As a result of findings from the studies revised, the role of the SLP in early childhood intervention is calling for a shift from direct work with an individual child to teaching, supporting, and building the capacity of the child's communication partners, with the ultimate goal of the child becoming more successful in how he/she participates and communicates in interactions and routines throughout the day and within natural contexts. These recommendations have been incorporated by important scientific and professional organizations such as the American Speech-Language-Hearing Association in their guidelines for providing early evidence-based communication intervention. Concluding we underlined the importance of viewing family centered practices as a capacity-building endeavor required for quality EI practices.



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Comparing Measures of Voice Quality From Sustained Phonation and Continuous Speech

Purpose
The question of what type of utterance—a sustained vowel or continuous speech—is best for voice quality analysis has been extensively studied but with equivocal results. This study examines whether previously reported differences derive from the articulatory and prosodic factors occurring in continuous speech versus sustained phonation.
Method
Speakers with voice disorders sustained vowels and read sentences. Vowel samples were excerpted from the steadiest portion of each vowel in the sentences. In addition to sustained and excerpted vowels, a 3rd set of stimuli was created by shortening sustained vowel productions to match the duration of vowels excerpted from continuous speech. Acoustic measures were made on the stimuli, and listeners judged the severity of vocal quality deviation.
Results
Sustained vowels and those extracted from continuous speech contain essentially the same acoustic and perceptual information about vocal quality deviation.
Conclusions
Perceived and/or measured differences between continuous speech and sustained vowels derive largely from voice source variability across segmental and prosodic contexts and not from variations in vocal fold vibration in the quasisteady portion of the vowels. Approaches to voice quality assessment by using continuous speech samples average across utterances and may not adequately quantify the variability they are intended to assess.

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It takes two: The role of family-centered practices in communication intervention

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Publication date: Available online 14 September 2016
Source:Revista de Logopedia, Foniatría y Audiología
Author(s): Marilyn Espe-Sherwindt, Ana Maria Serrano
Based on an ever-growing body of research, family-centered practices are a recommended, evidence-based principle of early childhood intervention provided by speech-language pathologists and audiologists, as well as by all other disciplines involved in providing supports and services to young children with delays and disabilities and their families. Despite this, research also suggests that (1) the concept of family-centered practices is often misunderstood, and (2) a gap continues to exist between recommended and the actual use of family-centered practices across all disciplines. In this article, we describe the evidence behind family-centered practices, how and why family-centered practices have become a key aspect of evidence-based early childhood communication intervention, and the defining characteristics and components of family-centered practices. In order to accomplish this goal the authors did an extensive research review of the literature. As a result of findings from the studies revised, the role of the SLP in early childhood intervention is calling for a shift from direct work with an individual child to teaching, supporting, and building the capacity of the child's communication partners, with the ultimate goal of the child becoming more successful in how he/she participates and communicates in interactions and routines throughout the day and within natural contexts. These recommendations have been incorporated by important scientific and professional organizations such as the American Speech-Language-Hearing Association in their guidelines for providing early evidence-based communication intervention. Concluding we underlined the importance of viewing family centered practices as a capacity-building endeavor required for quality EI practices.



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It takes two: The role of family-centered practices in communication intervention

alertIcon.gif

Publication date: Available online 14 September 2016
Source:Revista de Logopedia, Foniatría y Audiología
Author(s): Marilyn Espe-Sherwindt, Ana Maria Serrano
Based on an ever-growing body of research, family-centered practices are a recommended, evidence-based principle of early childhood intervention provided by speech-language pathologists and audiologists, as well as by all other disciplines involved in providing supports and services to young children with delays and disabilities and their families. Despite this, research also suggests that (1) the concept of family-centered practices is often misunderstood, and (2) a gap continues to exist between recommended and the actual use of family-centered practices across all disciplines. In this article, we describe the evidence behind family-centered practices, how and why family-centered practices have become a key aspect of evidence-based early childhood communication intervention, and the defining characteristics and components of family-centered practices. In order to accomplish this goal the authors did an extensive research review of the literature. As a result of findings from the studies revised, the role of the SLP in early childhood intervention is calling for a shift from direct work with an individual child to teaching, supporting, and building the capacity of the child's communication partners, with the ultimate goal of the child becoming more successful in how he/she participates and communicates in interactions and routines throughout the day and within natural contexts. These recommendations have been incorporated by important scientific and professional organizations such as the American Speech-Language-Hearing Association in their guidelines for providing early evidence-based communication intervention. Concluding we underlined the importance of viewing family centered practices as a capacity-building endeavor required for quality EI practices.



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Comparing Measures of Voice Quality From Sustained Phonation and Continuous Speech

Purpose
The question of what type of utterance—a sustained vowel or continuous speech—is best for voice quality analysis has been extensively studied but with equivocal results. This study examines whether previously reported differences derive from the articulatory and prosodic factors occurring in continuous speech versus sustained phonation.
Method
Speakers with voice disorders sustained vowels and read sentences. Vowel samples were excerpted from the steadiest portion of each vowel in the sentences. In addition to sustained and excerpted vowels, a 3rd set of stimuli was created by shortening sustained vowel productions to match the duration of vowels excerpted from continuous speech. Acoustic measures were made on the stimuli, and listeners judged the severity of vocal quality deviation.
Results
Sustained vowels and those extracted from continuous speech contain essentially the same acoustic and perceptual information about vocal quality deviation.
Conclusions
Perceived and/or measured differences between continuous speech and sustained vowels derive largely from voice source variability across segmental and prosodic contexts and not from variations in vocal fold vibration in the quasisteady portion of the vowels. Approaches to voice quality assessment by using continuous speech samples average across utterances and may not adequately quantify the variability they are intended to assess.

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Comparing Measures of Voice Quality From Sustained Phonation and Continuous Speech

Purpose
The question of what type of utterance—a sustained vowel or continuous speech—is best for voice quality analysis has been extensively studied but with equivocal results. This study examines whether previously reported differences derive from the articulatory and prosodic factors occurring in continuous speech versus sustained phonation.
Method
Speakers with voice disorders sustained vowels and read sentences. Vowel samples were excerpted from the steadiest portion of each vowel in the sentences. In addition to sustained and excerpted vowels, a 3rd set of stimuli was created by shortening sustained vowel productions to match the duration of vowels excerpted from continuous speech. Acoustic measures were made on the stimuli, and listeners judged the severity of vocal quality deviation.
Results
Sustained vowels and those extracted from continuous speech contain essentially the same acoustic and perceptual information about vocal quality deviation.
Conclusions
Perceived and/or measured differences between continuous speech and sustained vowels derive largely from voice source variability across segmental and prosodic contexts and not from variations in vocal fold vibration in the quasisteady portion of the vowels. Approaches to voice quality assessment by using continuous speech samples average across utterances and may not adequately quantify the variability they are intended to assess.

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Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

by Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500–1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434) and the total numbers of cases associated with at least one mutation was 44.07% (316/717). Among these, we were able to diagnose 212 (30%) patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8%) had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall) were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

by Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset. Results were compared using Fisher’s exact test (DNA Stata). Altogether 754 new DNA variants were identified, an increase of 25%, predominantly in people of European background. Of the 1168 COL4A5 variants, 504 (43%) were missense mutations, 273 (23%) splicing variants, 73 (6%) nonsense mutations, 169 (14%) short deletions and 76 (7%) complex or large deletions. Only 135 of the 432 Gly residues in the collagenous sequence were substituted (31%), which means that fewer than 10% of all possible variants have been identified. Both missense and nonsense mutations in COL4A5 were not randomly distributed but more common at the 70 CpG sequences (p−41 and pAla substitutions were underrepresented in all three genes (pCOL4A5 (24.4 ±7.8 years), COL4A3 (23.3 ± 9.3) and COL4A4 (25.4 ± 10.3) (COL4A5 and COL4A3, p = 0.45; COL4A5 and COL4A4, p = 0.55; COL4A3 and COL4A4, p = 0.41). For COL4A5, renal failure occurred sooner with non-missense than missense variants (pCOL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non-missense variants (p = 0.08, and p = 0.01 respectively). Thus DNA variant characteristics that predict age at renal failure appeared to be the same for all three Alport genes. Founder mutations (with the pathogenic variant in at least 5 apparently- unrelated individuals) were not necessarily associated with a milder phenotype. This study illustrates the benefits when routine diagnostic laboratories share and analyse their data.

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Higher-order auditory areas in congenital deafness: top-down interactions and corticocortical decoupling

Publication date: Available online 13 September 2016
Source:Hearing Research
Author(s): Dr. Andrej Kral, Prasandhya A. Yusuf, Rüdiger Land
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the integration of top-down and bottom-up information flow. Studies in humans suggest more deficits in higher-order than in primary cortical areas in congenital deafness. That opens up the question how well neurons in higher-order areas can be activated by the input through the deprived auditory pathway after restoration of hearing with cochlear implants. Further it is unclear whether their interconnections to lower order areas are impaired by absence of hearing. Corticocortical anatomical fiber tracts and general auditory responsiveness in both primary and higher-order areas are generally preserved in absence of auditory experience. However, the existing data suggest a dichotomy between preservation of anatomical cortical connectivity in congenital deafness and functional deficits in corticocortical coupling. Further, cross-modal reorganization observed in congenital deafness in specific cortical areas appears to be established by functional synaptic changes and rests on anatomically preserved, genetically-predetermined and molecularly patterned circuitry connecting the sensory systems. Current data indicate a reduced corticocortical functional coupling between cortical auditory areas in congenital deafness. These observations may also contribute to a better understanding of corticocortical functions in physiological conditions.



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Higher-order auditory areas in congenital deafness: top-down interactions and corticocortical decoupling

Publication date: Available online 13 September 2016
Source:Hearing Research
Author(s): Dr. Andrej Kral, Prasandhya A. Yusuf, Rüdiger Land
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the integration of top-down and bottom-up information flow. Studies in humans suggest more deficits in higher-order than in primary cortical areas in congenital deafness. That opens up the question how well neurons in higher-order areas can be activated by the input through the deprived auditory pathway after restoration of hearing with cochlear implants. Further it is unclear whether their interconnections to lower order areas are impaired by absence of hearing. Corticocortical anatomical fiber tracts and general auditory responsiveness in both primary and higher-order areas are generally preserved in absence of auditory experience. However, the existing data suggest a dichotomy between preservation of anatomical cortical connectivity in congenital deafness and functional deficits in corticocortical coupling. Further, cross-modal reorganization observed in congenital deafness in specific cortical areas appears to be established by functional synaptic changes and rests on anatomically preserved, genetically-predetermined and molecularly patterned circuitry connecting the sensory systems. Current data indicate a reduced corticocortical functional coupling between cortical auditory areas in congenital deafness. These observations may also contribute to a better understanding of corticocortical functions in physiological conditions.



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Higher-order auditory areas in congenital deafness: top-down interactions and corticocortical decoupling

Publication date: Available online 13 September 2016
Source:Hearing Research
Author(s): Dr. Andrej Kral, Prasandhya A. Yusuf, Rüdiger Land
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the integration of top-down and bottom-up information flow. Studies in humans suggest more deficits in higher-order than in primary cortical areas in congenital deafness. That opens up the question how well neurons in higher-order areas can be activated by the input through the deprived auditory pathway after restoration of hearing with cochlear implants. Further it is unclear whether their interconnections to lower order areas are impaired by absence of hearing. Corticocortical anatomical fiber tracts and general auditory responsiveness in both primary and higher-order areas are generally preserved in absence of auditory experience. However, the existing data suggest a dichotomy between preservation of anatomical cortical connectivity in congenital deafness and functional deficits in corticocortical coupling. Further, cross-modal reorganization observed in congenital deafness in specific cortical areas appears to be established by functional synaptic changes and rests on anatomically preserved, genetically-predetermined and molecularly patterned circuitry connecting the sensory systems. Current data indicate a reduced corticocortical functional coupling between cortical auditory areas in congenital deafness. These observations may also contribute to a better understanding of corticocortical functions in physiological conditions.



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Neural Circuits and Fear Conditioning

The processing of auditory input involves a complex neural network involving multiple regions of the brain. In particular, the amygdala has been noted as an integrative center in memory, decision making, and emotional response to auditory stimuli.



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Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Appl Clin Genet. 2016;9:141-6

Authors: Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD

Abstract
Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population. Of note, the degree of hearing loss associated with this phenotype ranged from mild to moderately severe, with two of the four siblings not known to have hearing loss until they were genotyped and underwent pure tone audiometry and auditory brainstem response testing. The phenotypic variability along with the auditory neuropathy/dys-synchrony, which allows for the production of otoacoustic emissions, supports that nonsyndromic hearing loss caused by OTOF mutations may be much more common in the Ashkenazi Jewish population than currently appreciated due to a lack of diagnosis.

PMID: 27621663 [PubMed]



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Parental perceptions and understanding of information provision, management options and factors influencing the decision-making process in the treatment of children with glue ear.

Parental perceptions and understanding of information provision, management options and factors influencing the decision-making process in the treatment of children with glue ear.

Int J Pediatr Otorhinolaryngol. 2016 Oct;89:6-12

Authors: Gkiousias V, Butler CC, Shepherd V, Kilgour JM, Waldron CA, Thomas-Jones E, Francis N

Abstract
OBJECTIVES: Otitis media with effusion (OME) is a common cause of hearing loss and possible developmental delay in children, and there are a range of 'preference sensitive' treatment options. We aimed to evaluate the attitudes and beliefs of parents of affected children to treatment options including watchful-waiting, hearing aids, grommets, and, oral steroids with the intention of developing our understanding of decision-making and the factors influencing it, sources of parental information, and satisfaction with information provision.
DESIGN: We recruited a convenience sample of twelve parents of eleven children with OME at a single ENT department of a teaching hospital into a qualitative research study. The children of the parents interviewed had already been recruited into the Oral Steroids for the Resolution of Otitis Media with effusion In Children (OSTRICH) study. Semi structured interviews were audio recorded, transcribed and then coded using an inductive, thematic approach.
RESULTS: Parents were satisfied with the verbal provision of information during the treatment consultation, although many were keen to receive supplementary printed information. Discussion with family and friends helped the decision-making process, whereas insufficient information and a paternalistic approach were viewed as obstacles. Parents were particularly influenced by the following: the immediacy of the treatment option effect, perceived efficacy, perceived risks and adverse effects, social implications (especially with hearing aids) and past personal and informant experience.
CONCLUSIONS: Parents appreciate clinicians tailoring information provision to parents' information needs and preferred format. Clinicians should also elicit parental attitudes towards the different management options for OME and the factors influencing their decisions, in order to optimise shared-decision making and ultimately provide a better standard of clinical care.

PMID: 27619020 [PubMed - in process]



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Microdeletion 8q22.2-q22.3 in a 40-year-old male.

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

Microdeletion 8q22.2-q22.3 in a 40-year-old male.

Eur J Med Genet. 2015 Nov;58(11):569-72

Authors: Sinajon P, Gofine T, Ingram J, So J

Abstract
BACKGROUND: Interstitial deletions at chromosome 8q22.2-q22.3 have been rarely reported in the literature. To date, six patients have been described in the literature with deletions varying in size from 1.36 Mb to 6.44 Mb. These patients range in age from early childhood to early adulthood. The interstitial deletion phenotype has been described to involve moderate to severe intellectual disability, seizures and a distinct facial phenotype. We report on a 40-year-old male with a 3.351 Mb deletion at chromosome 8q22.2-q22.3 who presents with moderate intellectual disability, autism spectrum disorder, childhood seizure disorder, congenital heart defect and hearing loss. He is the oldest known patient to date.
METHODS: Array comparative genomic hybridization (aCGH) was performed on DNA extracted from peripheral blood.
CONCLUSION: This is the first report of an individual with chromosome 8q22.2-q22.3 interstitial deletion associated with congenital heart disease and hearing loss. Haploinsufficiency of the GRHL2 gene contained within the microdeletion is proposed as a candidate genetic mechanism for this patient's hearing loss.

PMID: 26455667 [PubMed - indexed for MEDLINE]



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