November 3, 2017 – AuD Open House for Prospective Students

The Doctor of Audiology program is hosting an open house for prospective students on Friday, November 3, 2017, at the SDSU and UCSD campuses.

Space is limited – Don’t miss this opportunity to learn more about the AuD program and the application process.

• See the AuD Open House event details>>

 

 

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November 3, 2017 – AuD Open House for Prospective Students

The Doctor of Audiology program is hosting an open house for prospective students on Friday, November 3, 2017, at the SDSU and UCSD campuses.

Space is limited – Don’t miss this opportunity to learn more about the AuD program and the application process.

• See the AuD Open House event details>>

 

 

from #Audiology via ola Kala on Inoreader http://ift.tt/2uLUS5Z
via IFTTT

November 3, 2017 – AuD Open House for Prospective Students

The Doctor of Audiology program is hosting an open house for prospective students on Friday, November 3, 2017, at the SDSU and UCSD campuses.

Space is limited – Don’t miss this opportunity to learn more about the AuD program and the application process.

• See the AuD Open House event details>>

 

 

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Acoustic Trauma Symptoms

Please note: the following information does not constitute professional medical advice, and is provided for general informational purposes only. Please speak to your doctor if you have tinnitus.

 

An Overview of Acoustic Trauma

Acoustic trauma is a condition that occurs as the result of being exposed to loud noise. It can occur regardless of whether one is exposed to a very loud noise one time or exposed to lower noises over a long period of time. The inner and middle ear are protected by the eardrum. The eardrum also transmits vibrations to the brain.Acoustic trauma changes the way that the eardrum handles the vibrations. This can cause hearing loss.

Risk Factors for Developing Acoustic Trauma

Anyone who is frequently exposed to loud noise can develop acoustic trauma. This includes people who work in gun ranges, people who attend concerts and people who work in or near areas. Additionally, people who do not wear the proper protective ear equipment are more likely to develop acoustic trauma.

Acoustic trauma is most likely to develop after one is exposed to noise that is above 85 decibels. A passing diesel truck is an example of something that has a noise level of 85 decibels.

Acoustic Trauma Symptoms

Hearing loss is one of the most common acoustic trauma symptoms. Many people will have problems hearing sounds with a higher frequency. As the hearing loss worsens, they may have problems hearing at lower frequencies. Tinnitus is another one of the acoustic trauma symptoms.

Tinnitus causes a person to hear a constant ringing or buzzing sound. People who have mild to moderate tinnitus may not even notice that they have the condition. It is important to note that tinnitus can be caused by a variety of things such as changes to the blood vessels and drug use. However, it is often a sign of acoustic trauma.

How to Diagnose Acoustic Trauma

Your doctor will ask you a variety of questions about your hearing in order to diagnose this condition. Your doctor can also use audiometry to diagnose acoustic trauma. This is a test where a person is exposed to sounds with varying tones and loudness in order to determine how well one hears.

How to Treat Diagnose Acoustic Trauma

Medications can be used to treat acoustic trauma. Oral steroid medications are often recommended. Ear protection will need to be used in order to prevent acoustic trauma from getting worse. If a person has severe hearing loss, then they may need to wear hearing aids. Cochlear implants, which are electronic hearing devices, may also be recommended.

 

 

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Do the Hard Things First: A Randomized Controlled Trial Testing the Effects of Exemplar Selection on Generalization Following Therapy for Grammatical Morphology

Purpose

Complexity-based approaches to treatment have been gaining popularity in domains such as phonology and aphasia but have not yet been tested in child morphological acquisition. In this study, we examined whether beginning treatment with easier-to-inflect (easy first) or harder-to-inflect (hard first) verbs led to greater progress in the production of regular past-tense –ed by children with developmental language disorder.

Method

Eighteen children with developmental language disorder (ages 4–10) participated in a randomized controlled trial (easy first, N = 10, hard first, N = 8). Verbs were selected on the basis of frequency, phonological complexity, and telicity (i.e., the completedness of the event). Progress was measured by the duration of therapy, number of verb lists trained to criterion, and pre/post gains in accuracy for trained and untrained verbs on structured probes.

Results

The hard-first group made greater gains in accuracy on both trained and untrained verbs but did not have fewer therapy visits or train to criterion on more verb lists than the easy-first group. Treatment fidelity, average recasts per session, and verbs learned did not differ across conditions.

Conclusion

When targeting grammatical morphemes, it may be most efficient for clinicians to select harder rather than easier exemplars of the target.

from #Audiology via xlomafota13 on Inoreader http://article/doi/10.1044/2017_JSLHR-L-17-0001/2648949/Do-the-Hard-Things-First-A-Randomized-Controlled
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Dialect Variation of Copula and Auxiliary Verb BE: African American English–Speaking Children With and Without Gullah/Geechee Heritage

Purpose

We compared copula and auxiliary verb BE use by African American English–speaking children with and without a creole heritage, using Gullah/Geechee as the creole criterion, to determine if differences exist, the nature of the differences, and the impact of the differences on interpretations of ability.

Method

Data came from 38 children, aged 5 to 6 years (19 with Gullah/Geechee and 19 without Gullah/Geechee heritage). All were developing language typically, with groups matched on gender, maternal education, and, when possible, test scores. The children's productions of BE were elicited using a screener, probes, and language samples.

Results

Although many similarities were documented, the 2 groups' BE systems differed in 3 ways: use of unique forms (i.e., də), unique use of shared forms (i.e., BEEN), and rates of use of shared forms (e.g., am, is, was/were, was for were). Although most noticeable in the language samples, differences surfaced across tasks and showed the potential to affect interpretations of ability.

Conclusions

Dialect variation that is tied to children's creole heritage exists, involves 3 types of variation, and potentially affects interpretations of ability. Effects of a heritage language and different types of variation should be considered in research and clinical endeavors with African American English–speaking children.

from #Audiology via xlomafota13 on Inoreader http://article/doi/10.1044/2017_JSLHR-L-16-0120/2648948/Dialect-Variation-of-Copula-and-Auxiliary-Verb-BE
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Do the Hard Things First: A Randomized Controlled Trial Testing the Effects of Exemplar Selection on Generalization Following Therapy for Grammatical Morphology

Purpose

Complexity-based approaches to treatment have been gaining popularity in domains such as phonology and aphasia but have not yet been tested in child morphological acquisition. In this study, we examined whether beginning treatment with easier-to-inflect (easy first) or harder-to-inflect (hard first) verbs led to greater progress in the production of regular past-tense –ed by children with developmental language disorder.

Method

Eighteen children with developmental language disorder (ages 4–10) participated in a randomized controlled trial (easy first, N = 10, hard first, N = 8). Verbs were selected on the basis of frequency, phonological complexity, and telicity (i.e., the completedness of the event). Progress was measured by the duration of therapy, number of verb lists trained to criterion, and pre/post gains in accuracy for trained and untrained verbs on structured probes.

Results

The hard-first group made greater gains in accuracy on both trained and untrained verbs but did not have fewer therapy visits or train to criterion on more verb lists than the easy-first group. Treatment fidelity, average recasts per session, and verbs learned did not differ across conditions.

Conclusion

When targeting grammatical morphemes, it may be most efficient for clinicians to select harder rather than easier exemplars of the target.

from #Audiology via ola Kala on Inoreader http://article/doi/10.1044/2017_JSLHR-L-17-0001/2648949/Do-the-Hard-Things-First-A-Randomized-Controlled
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Dialect Variation of Copula and Auxiliary Verb BE: African American English–Speaking Children With and Without Gullah/Geechee Heritage

Purpose

We compared copula and auxiliary verb BE use by African American English–speaking children with and without a creole heritage, using Gullah/Geechee as the creole criterion, to determine if differences exist, the nature of the differences, and the impact of the differences on interpretations of ability.

Method

Data came from 38 children, aged 5 to 6 years (19 with Gullah/Geechee and 19 without Gullah/Geechee heritage). All were developing language typically, with groups matched on gender, maternal education, and, when possible, test scores. The children's productions of BE were elicited using a screener, probes, and language samples.

Results

Although many similarities were documented, the 2 groups' BE systems differed in 3 ways: use of unique forms (i.e., də), unique use of shared forms (i.e., BEEN), and rates of use of shared forms (e.g., am, is, was/were, was for were). Although most noticeable in the language samples, differences surfaced across tasks and showed the potential to affect interpretations of ability.

Conclusions

Dialect variation that is tied to children's creole heritage exists, involves 3 types of variation, and potentially affects interpretations of ability. Effects of a heritage language and different types of variation should be considered in research and clinical endeavors with African American English–speaking children.

from #Audiology via ola Kala on Inoreader http://article/doi/10.1044/2017_JSLHR-L-16-0120/2648948/Dialect-Variation-of-Copula-and-Auxiliary-Verb-BE
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Do the Hard Things First: A Randomized Controlled Trial Testing the Effects of Exemplar Selection on Generalization Following Therapy for Grammatical Morphology

Purpose

Complexity-based approaches to treatment have been gaining popularity in domains such as phonology and aphasia but have not yet been tested in child morphological acquisition. In this study, we examined whether beginning treatment with easier-to-inflect (easy first) or harder-to-inflect (hard first) verbs led to greater progress in the production of regular past-tense –ed by children with developmental language disorder.

Method

Eighteen children with developmental language disorder (ages 4–10) participated in a randomized controlled trial (easy first, N = 10, hard first, N = 8). Verbs were selected on the basis of frequency, phonological complexity, and telicity (i.e., the completedness of the event). Progress was measured by the duration of therapy, number of verb lists trained to criterion, and pre/post gains in accuracy for trained and untrained verbs on structured probes.

Results

The hard-first group made greater gains in accuracy on both trained and untrained verbs but did not have fewer therapy visits or train to criterion on more verb lists than the easy-first group. Treatment fidelity, average recasts per session, and verbs learned did not differ across conditions.

Conclusion

When targeting grammatical morphemes, it may be most efficient for clinicians to select harder rather than easier exemplars of the target.

from #Audiology via ola Kala on Inoreader http://article/doi/10.1044/2017_JSLHR-L-17-0001/2648949/Do-the-Hard-Things-First-A-Randomized-Controlled
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Dialect Variation of Copula and Auxiliary Verb BE: African American English–Speaking Children With and Without Gullah/Geechee Heritage

Purpose

We compared copula and auxiliary verb BE use by African American English–speaking children with and without a creole heritage, using Gullah/Geechee as the creole criterion, to determine if differences exist, the nature of the differences, and the impact of the differences on interpretations of ability.

Method

Data came from 38 children, aged 5 to 6 years (19 with Gullah/Geechee and 19 without Gullah/Geechee heritage). All were developing language typically, with groups matched on gender, maternal education, and, when possible, test scores. The children's productions of BE were elicited using a screener, probes, and language samples.

Results

Although many similarities were documented, the 2 groups' BE systems differed in 3 ways: use of unique forms (i.e., də), unique use of shared forms (i.e., BEEN), and rates of use of shared forms (e.g., am, is, was/were, was for were). Although most noticeable in the language samples, differences surfaced across tasks and showed the potential to affect interpretations of ability.

Conclusions

Dialect variation that is tied to children's creole heritage exists, involves 3 types of variation, and potentially affects interpretations of ability. Effects of a heritage language and different types of variation should be considered in research and clinical endeavors with African American English–speaking children.

from #Audiology via ola Kala on Inoreader http://article/doi/10.1044/2017_JSLHR-L-16-0120/2648948/Dialect-Variation-of-Copula-and-Auxiliary-Verb-BE
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Comparison of lower limb muscle strength between diabetic neuropathic and healthy subjects using OpenSim

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Alessandra Scarton, Ilse Jonkers, Annamaria Guiotto, Fabiola Spolaor, Gabriella Guarneri, Angelo Avogaro, Claudio Cobelli, Zimi Sawacha
Diabetes neuropathy and vasculopathy are the two major complications of diabetes mellitus, leading to diabetic foot disease, of which the worst consequences are plantar ulcers and amputations. Motor impairments like joint stiffness and loss of balance are distinctive effects of diabetes and they have been extensively explored. However, while altered muscle function has been also assessed through experimentally measured surface electromyography, little is known about muscle forces. The objective of this study was to estimate muscle forces in subjects with diabetes and to use these data to identify differences with respect to a population of healthy subjects matched for age and BMI. This was obtained by generating musculoskeletal models of 10 diabetic and 10 control subjects in OpenSim starting from experimentally recorded data. Dynamic simulations of motion were run and hence muscle forces calculated. Student T test (p<0.05) was used to compare joints kinematics, kinetics and muscle forces between the two populations. Significant changes were observed between lower limb muscle forces and activation of diabetic and healthy subjects, as well as between joints kinematics and kinetics. In particular muscles related to foot movements proved to be stronger in the healthy population. The typical ankle rigidity of the diabetic population was confirmed by a lower range of motion registered at the ankle plantar/flexion angle associated with weaker dorsal-plantar flexor muscles. The information provided by this methodology can help planning specific training programs aiming at augmenting muscle strength and joints mobility, and they can also improve the evaluation of the potential benefits.



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In vivo mechanical behaviour of the anterior cruciate ligament: A study of six daily and high impact activities

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Elisa Roldán, Neil D. Reeves, Glen Cooper, Kirstie Andrews
The anterior cruciate ligament (ACL) plays a key role in the stability of the knee joint restricting the rotation and anterior tibial translation. However, there is a lack of knowledge of the in vivo ACL mechanical behaviour during high impact manoeuvres. The motion of 12 young participants with healthy knees was captured while they performed the following activities: walking, running, cross-over cutting, sidestep cutting, jumping and jumping with one leg. The in vivo ACL length and strain were estimated using experimental kinematic data and three degree of freedom (DOF) knee model. The in vivo ACL tensile forces were determined with a well-established force/strain relationship obtained through ACL tensile tests. Statistical regression models between ACL length with respect to angles for each activity have been performed in order to better understand the ACL failure mechanisms. The maximum ACL tensile force was observed during jumping vertically at maximum effort with two legs (1.076±0.113 N/BW). Surprisingly, the peak tensile ACL force for all subjects during crossover cutting (0.715±0.2647 N/BW) was lower than during walking (0.774±0.064 N/BW). Regression coefficients for crossover cutting indicated that excessive knee rotation and abduction angles contribute more significantly to the ACL elongation than in activities such as walking or running. These findings suggested that the ACL is subjected to multidirectional loading; further studies will be performed to investigate torsion, tensile and shear force on the ligament.



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Comparison of lower limb muscle strength between diabetic neuropathic and healthy subjects using OpenSim

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Alessandra Scarton, Ilse Jonkers, Annamaria Guiotto, Fabiola Spolaor, Gabriella Guarneri, Angelo Avogaro, Claudio Cobelli, Zimi Sawacha
Diabetes neuropathy and vasculopathy are the two major complications of diabetes mellitus, leading to diabetic foot disease, of which the worst consequences are plantar ulcers and amputations. Motor impairments like joint stiffness and loss of balance are distinctive effects of diabetes and they have been extensively explored. However, while altered muscle function has been also assessed through experimentally measured surface electromyography, little is known about muscle forces. The objective of this study was to estimate muscle forces in subjects with diabetes and to use these data to identify differences with respect to a population of healthy subjects matched for age and BMI. This was obtained by generating musculoskeletal models of 10 diabetic and 10 control subjects in OpenSim starting from experimentally recorded data. Dynamic simulations of motion were run and hence muscle forces calculated. Student T test (p<0.05) was used to compare joints kinematics, kinetics and muscle forces between the two populations. Significant changes were observed between lower limb muscle forces and activation of diabetic and healthy subjects, as well as between joints kinematics and kinetics. In particular muscles related to foot movements proved to be stronger in the healthy population. The typical ankle rigidity of the diabetic population was confirmed by a lower range of motion registered at the ankle plantar/flexion angle associated with weaker dorsal-plantar flexor muscles. The information provided by this methodology can help planning specific training programs aiming at augmenting muscle strength and joints mobility, and they can also improve the evaluation of the potential benefits.



from #Audiology via ola Kala on Inoreader http://ift.tt/2wxecWS
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In vivo mechanical behaviour of the anterior cruciate ligament: A study of six daily and high impact activities

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Elisa Roldán, Neil D. Reeves, Glen Cooper, Kirstie Andrews
The anterior cruciate ligament (ACL) plays a key role in the stability of the knee joint restricting the rotation and anterior tibial translation. However, there is a lack of knowledge of the in vivo ACL mechanical behaviour during high impact manoeuvres. The motion of 12 young participants with healthy knees was captured while they performed the following activities: walking, running, cross-over cutting, sidestep cutting, jumping and jumping with one leg. The in vivo ACL length and strain were estimated using experimental kinematic data and three degree of freedom (DOF) knee model. The in vivo ACL tensile forces were determined with a well-established force/strain relationship obtained through ACL tensile tests. Statistical regression models between ACL length with respect to angles for each activity have been performed in order to better understand the ACL failure mechanisms. The maximum ACL tensile force was observed during jumping vertically at maximum effort with two legs (1.076±0.113 N/BW). Surprisingly, the peak tensile ACL force for all subjects during crossover cutting (0.715±0.2647 N/BW) was lower than during walking (0.774±0.064 N/BW). Regression coefficients for crossover cutting indicated that excessive knee rotation and abduction angles contribute more significantly to the ACL elongation than in activities such as walking or running. These findings suggested that the ACL is subjected to multidirectional loading; further studies will be performed to investigate torsion, tensile and shear force on the ligament.



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via IFTTT

Comparison of lower limb muscle strength between diabetic neuropathic and healthy subjects using OpenSim

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Alessandra Scarton, Ilse Jonkers, Annamaria Guiotto, Fabiola Spolaor, Gabriella Guarneri, Angelo Avogaro, Claudio Cobelli, Zimi Sawacha
Diabetes neuropathy and vasculopathy are the two major complications of diabetes mellitus, leading to diabetic foot disease, of which the worst consequences are plantar ulcers and amputations. Motor impairments like joint stiffness and loss of balance are distinctive effects of diabetes and they have been extensively explored. However, while altered muscle function has been also assessed through experimentally measured surface electromyography, little is known about muscle forces. The objective of this study was to estimate muscle forces in subjects with diabetes and to use these data to identify differences with respect to a population of healthy subjects matched for age and BMI. This was obtained by generating musculoskeletal models of 10 diabetic and 10 control subjects in OpenSim starting from experimentally recorded data. Dynamic simulations of motion were run and hence muscle forces calculated. Student T test (p<0.05) was used to compare joints kinematics, kinetics and muscle forces between the two populations. Significant changes were observed between lower limb muscle forces and activation of diabetic and healthy subjects, as well as between joints kinematics and kinetics. In particular muscles related to foot movements proved to be stronger in the healthy population. The typical ankle rigidity of the diabetic population was confirmed by a lower range of motion registered at the ankle plantar/flexion angle associated with weaker dorsal-plantar flexor muscles. The information provided by this methodology can help planning specific training programs aiming at augmenting muscle strength and joints mobility, and they can also improve the evaluation of the potential benefits.



from #Audiology via xlomafota13 on Inoreader http://ift.tt/2wxecWS
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In vivo mechanical behaviour of the anterior cruciate ligament: A study of six daily and high impact activities

Publication date: October 2017
Source:Gait & Posture, Volume 58
Author(s): Elisa Roldán, Neil D. Reeves, Glen Cooper, Kirstie Andrews
The anterior cruciate ligament (ACL) plays a key role in the stability of the knee joint restricting the rotation and anterior tibial translation. However, there is a lack of knowledge of the in vivo ACL mechanical behaviour during high impact manoeuvres. The motion of 12 young participants with healthy knees was captured while they performed the following activities: walking, running, cross-over cutting, sidestep cutting, jumping and jumping with one leg. The in vivo ACL length and strain were estimated using experimental kinematic data and three degree of freedom (DOF) knee model. The in vivo ACL tensile forces were determined with a well-established force/strain relationship obtained through ACL tensile tests. Statistical regression models between ACL length with respect to angles for each activity have been performed in order to better understand the ACL failure mechanisms. The maximum ACL tensile force was observed during jumping vertically at maximum effort with two legs (1.076±0.113 N/BW). Surprisingly, the peak tensile ACL force for all subjects during crossover cutting (0.715±0.2647 N/BW) was lower than during walking (0.774±0.064 N/BW). Regression coefficients for crossover cutting indicated that excessive knee rotation and abduction angles contribute more significantly to the ACL elongation than in activities such as walking or running. These findings suggested that the ACL is subjected to multidirectional loading; further studies will be performed to investigate torsion, tensile and shear force on the ligament.



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Reliability and Validity of Speech Evaluation in Adductor Spasmodic Dysphonia

Publication date: Available online 9 August 2017
Source:Journal of Voice
Author(s): Saori Yanagida, Noriko Nishizawa, Ryusaku Hashimoto, Kenji Mizoguchi, Hiromitsu Hatakeyama, Akihiro Homma, Satoshi Fukuda
ObjectivesThe aim of this study was to evaluate speech in patients with adductor spasmodic dysphonia (ADSD) by perceptual evaluations and acoustic measures, and to examine the reliability and validity of these measures.MethodsTwenty-four patients with ADSD and 24 healthy volunteers were included in the study. Speech materials consisted of three sentences constructed from serial voiced syllables to elicit abductor voice breaks. Three otolaryngologists rated the degree of voice symptoms using a visual analog scale (VAS). VAS sheets with five 100-mm horizontal lines were given to each rater. The ends of the lines were labeled normal vs severe, and the five lines were labeled as overall severity of each of the four speech symptoms (strangulation, interruption, tremor and strained speech). Nine words were selected for acoustic analysis, and abnormal acoustic events were classified into one of the three categories. To evaluate the intra- and inter-rater and intermeasurer reliabilities of the VAS scores or acoustic measures, Pearson r correlations were calculated. To examine the validity of perceptual evaluations and acoustic measures, the sensitivity and the specificity were calculated.ResultsPearson r correlation coefficients for overall severity showed the highest intra- and inter-rater reliabilities. For acoustic events, the intrameasurer reliabilities were r = .645 (frequency shifts), r = .969 (aperiodic segments), and r = 1.0 (phonation breaks), and the intermeasurer reliability ranged from r = .102 to r = 1.0. Perceptual evaluation showed high sensitivity (91.7%) and specificity (100%), whereas acoustic analysis showed low sensitivity (70.8%) and high specificity (100%).ConclusionBoth perceptual evaluation and acoustic measures alone were found likely to overlook patients with true ADSD.



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Auditory-Perceptual Evaluation of Dysphonia: A Comparison Between Narrow and Broad Terminology Systems

Publication date: Available online 9 August 2017
Source:Journal of Voice
Author(s): Jenny Iwarsson, Anne Bingen-Jakobsen, Ditte Søbæk Johansen, Inge Ernst Kølle, Solveig Gunvor Pedersen, Stine Løvind Thorsen, Niels Reinholt Petersen
ObjectiveIn auditory-perceptual voice analysis, a multiparameter approach and a more reductionist approach may be compared with narrow and broad phonetic transcription and used interchangeably, depending on the purpose. The aim of this study was to investigate the perspectives of a translation of the terminology used in the multiparameter Danish Dysphonia Assessment (DDA) approach into the five-parameter GRBAS system.MethodsVoice samples illustrating type and grade of the voice qualities included in DDA were rated by five speech language pathologists using the GRBAS system with the aim of estimating inter- and intrarater reliability. The same samples were then rated using the DDA terminology.ResultsBoth inter- and intrarater reliability were found to be very high for the GRBAS parameters grade, rough, and breathy, but somewhat lower for asthenic and strained. Further, strong and clear associations were found between the DDA and GRBAS rating for grade, rough, breathy, and strained, whereas the relation between DDA ratings and asthenic was weaker and less clear.ConclusionThe data strongly support that the DDA system can be translated into the GRBAS system for auditory-perceptual voice analysis. The consensus discussion prior to the listening test is believed to have contributed to the high degree of inter- and intrarater reliability. We suggest for future use of the GRBAS system that rater reliability for asthenic and strained can increase, if these parameters are defined as behavioral terms and antagonists, reflecting muscular hypo- and hyperfunction.



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A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

Related Articles

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

Sci Rep. 2017 Aug 08;7(1):7551

Authors: Lin YH, Lin YH, Lu YC, Liu TC, Chen CY, Hsu CJ, Chen PL, Wu CC

Abstract
Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous with more than 35 genes identified to date. Using a massively parallel sequencing panel targeting 159 deafness genes, we identified a novel missense variant of POU4F3 (c.982A>G, p.Lys328Glu) which co-segregated with the deafness phenotype in a three-generation Taiwanese family with ADNSHL. This variant could be classified as a "pathogenic variant" according to the American College of Medical Genetics and Genomics guidelines. We then performed subcellular localization experiments and confirmed that p.Lys328Glu compromised transportation of POU4F3 from the cytoplasm to the nucleus. POU3F4 p.Lys328Glu was located within a bipartite nuclear localization signal (NLS), and was the first missense variant in bipartite NLS of POU4F3 validated in functional studies. These findings expanded the mutation spectrum of POU4F3 and provided insight into the pathogenesis associated with aberrant POU4F3 localization.

PMID: 28790396 [PubMed - in process]

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Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.

Related Articles

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.

Indian J Ophthalmol. 2016 Nov;64(11):856-859

Authors: Imamoglu S, Kaya V, Imamoglu EY, Gok K

Abstract
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall-Stickler phenotype based on clinical and radiological findings. Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.

PMID: 27958215 [PubMed - indexed for MEDLINE]

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Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

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Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

Neuropsychology. 2017 Mar;31(3):292-303

Authors: Walker LA, Bourque P, Smith AM, Warman Chardon J

Abstract
OBJECTIVE: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN.
METHOD: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging.
RESULTS: At baseline, 2 individuals demonstrated cognitive profiles with executive difficulties in some areas consistent with frontal-system dysfunction behaviorally and on standardized testing. The third individual was further in the disease course and exhibited more globally impaired cognition consistent with a diagnosis of dementia.
CONCLUSIONS: This family demonstrated progressive neurodegeneration beginning with isolated areas of executive dysfunction and leading to globally impaired cognition and dementia. Cognitive decline occurred in parallel with neurological deterioration. The cognitive profile is similar to case reports of other individuals with an allelic neurological phenotype, Hereditary Sensory Autonomic Neuropathy 1E, also caused by DNMT1 mutations. (PsycINFO Database Record

PMID: 27869457 [PubMed - indexed for MEDLINE]

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