OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Παρασκευή 7 Απριλίου 2017
Efficacy of Voice Therapy for Patients With Early Unilateral Adductor Vocal Fold Paralysis
Source:Journal of Voice
Author(s): Ya-Chuan Kao, Shen-Hwa Chen, Yu-Tsai Wang, Pen-Yuan Chu, Ching-Ting Tan, Wan-Zu Diana Chang
ObjectivesAlthough a variety of therapeutic techniques have been suggested for patients with unilateral adductor vocal fold paralysis (UAVFP), they were not aimed specifically at determining the efficacy of early intervention for these patients. The purposes of this study are to explore a protocol of voice therapy and to investigate its efficacy in voice therapy for patients with early UAVFP. A 12-week planned voice therapy protocol, including vocal function exercise, hard attack, and resonance voice therapy, was given to 10 patients within 6 months of initial diagnosis. Additionally, nine patients diagnosed with UAVFP within 6 months served as controls.MethodsMultidimensional evaluations of voice function were obtained for statistical analyses.ResultsCompared to a control group, the experimental group receiving voice therapy exhibited significant improvement in the following: (1) glottal closure; (2) voice quality of grade, breathiness, monotone, and resonance; (3) acoustic measurements of jitter, shimmer, and noise-to-harmonic ratio; (4) aerodynamics measurements of maximum phonation time, phonation threshold pressure, and phonation quotient; and (5) Voice Handicap Index of functional subscale.ConclusionThis prospective study established an effective protocol of early intervention of voice therapy in patients with UAVFP and demonstrated its efficacy in data on laryngeal physiology, voice quality, voice stability, voice efficiency, and communication function.
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Correlation of Iranian Voice Quality of Life Profile (IVQLP) to VHI-30 and VRQOL: Construct Validity Evidence
Source:Journal of Voice
Author(s): Ali Dehqan, Ronald C. Scherer, Fariba Yadegari
ObjectivesAn important domain in health-related quality of life evaluations is quality of life perceptions due to having a voice disorder. The purpose of the current study was (1) to examine the correlation of the Iranian Voice Quality of Life Profile (IVQLP) with the Voice-Related Quality of Life (VRQOL) and Voice Handicap Index-30 (VHI-30) for establishing the construct convergent validity of the IVQLP, and (2) to examine the correlation between VRQOL and VHI-30.MethodsStudy sample consisted of 150 patients, 91 male and 59 female, diagnosed with muscle tension dysphonia, benign organic disorders such as polyps and nodules, and unilateral vocal fold paralysis. In total, 150 patients aged 46.53 ± 13.84 years completed the IVQLP and Persian versions of the VHI and VRQOL.ResultsThe results showed that Spearman rank-order correlation coefficient between the results of the VHI and IVQLP questionnaires was 0.90 (P < 0.001). The correlation coefficient between VRQOL and IVQLP was −0.88. (P < 0.001) The Spearman correlation between VHI and VRQOL was −0.94. (P < 0.001)ConclusionsThe current study showed that the IVQLP has good construct validity, and it can evaluate quality of life in Iranian dysphonic patients based on their culture. Also, the VHI-30 and VRQOL correlation was very high.
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Does Even Low-Grade Dysphonia Warrant Voice Center Referral?
Source:Journal of Voice
Author(s): Resha S. Soni, Barbara Ebersole, Nausheen Jamal
ObjectiveData regarding the referral of dysphonic patients to specialty voice clinics are limited. The objective of this study is to examine the relationship between low perceptual dysphonia severity and subtle laryngeal findings to discern if this can help guide referral.Study DesignThis is a retrospective chart review.MethodsThe charts of 94 patients presenting with a primary complaint of hoarseness to a single laryngologist over a 1-year period at a tertiary care, interdisciplinary voice center were analyzed. Patients were stratified by clinician perceptual rating of dysphonia severity using the overall Grade score from the GRBAS (grade, roughness, breathiness, asthenia, strain) scale, and this was compared to their laryngeal findings on stroboscopy.ResultsForty-one patients had a Grade score of 0 or 1, of whom 85% had relatively subtle findings on stroboscopy, including vocal fold paresis, muscle tension dysphonia, and spasmodic dysphonia.ConclusionPatients with a primary complaint of hoarseness but absent or only mild perceptual dysphonia may have subtle or occult laryngeal findings that may be easily missed. These patients may benefit from early referral to a specialty voice center.
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Congratulations to 3rd year JDP-LCD student Erin Smolak!
Erin
Erin successfully competed in the preliminary, semi-finals, and final rounds of the UC San Diego Grad Slam Competition with her talk, “Out of the Mouths of Babes: Child Language and the Economy”. Erin placed third and we very proud of her accomplishments!
Congratulations, Erin!
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Congratulations to 3rd year JDP-LCD student Erin Smolak!
Erin
Erin successfully competed in the preliminary, semi-finals, and final rounds of the UC San Diego Grad Slam Competition with her talk, “Out of the Mouths of Babes: Child Language and the Economy”. Erin placed third and we very proud of her accomplishments!
Congratulations, Erin!
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Congratulations to 3rd year JDP-LCD student Erin Smolak!
Erin
Erin successfully competed in the preliminary, semi-finals, and final rounds of the UC San Diego Grad Slam Competition with her talk, “Out of the Mouths of Babes: Child Language and the Economy”. Erin placed third and we very proud of her accomplishments!
Congratulations, Erin!
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Evaluation of Cochlear Duct Length Computations Using Synchrotron Radiation Phase-Contrast Imaging.
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Microsurgery for Recurrent Vestibular Schwannoma After Previous Gross Total Resection.
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Are Cervical Collars a Necessary Postprocedure Restriction in Patients With Benign Paroxysmal Positional Vertigo Treated With Particle Repositioning Maneuvers?.
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Pilot Electroacoustic Analyses of a Sample of Direct-to-Consumer Amplification Products.
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Word Learning Deficits in Children With Dyslexia
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Processing of Acoustic Cues in Lexical-Tone Identification by Pediatric Cochlear-Implant Recipients
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Word Learning Deficits in Children With Dyslexia
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Processing of Acoustic Cues in Lexical-Tone Identification by Pediatric Cochlear-Implant Recipients
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Word Learning Deficits in Children With Dyslexia
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Processing of Acoustic Cues in Lexical-Tone Identification by Pediatric Cochlear-Implant Recipients
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Outstanding students Valeria Garcia and Heidi Mattison name Tracy Love and Sonja Pruitt as their most influential faculty members!
SLHS Outstanding undergraduate student Valeria Garcia chose Tracy Love as her most influential faculty.
SLHS Outstanding graduate (MA) student Heidi Mattison chose Sonja Pruitt as her most influential faculty.
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Outstanding students Valeria Garcia and Heidi Mattison name Tracy Love and Sonja Pruitt as their most influential faculty members!
SLHS Outstanding undergraduate student Valeria Garcia chose Tracy Love as her most influential faculty.
SLHS Outstanding graduate (MA) student Heidi Mattison chose Sonja Pruitt as her most influential faculty.
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Outstanding students Valeria Garcia and Heidi Mattison name Tracy Love and Sonja Pruitt as their most influential faculty members!
SLHS Outstanding undergraduate student Valeria Garcia chose Tracy Love as her most influential faculty.
SLHS Outstanding graduate (MA) student Heidi Mattison chose Sonja Pruitt as her most influential faculty.
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Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Related Articles |
Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Int Arch Otorhinolaryngol. 2017 Apr;21(2):191-194
Authors: Corvera Behar G, García de la Cruz MA
Abstract
Introduction Benign paroxysmal positional vertigo is a generally benign condition that responds to repositioning maneuvers and frequently resolves spontaneously. However, for some patients it can become a disabling condition in which surgery must be considered. Two different surgical techniques exist, singular neurectomy and posterior semicircular canal occlusion. Objective The objective of this study is to review the current status of singular nerve section and posterior semicircular canal occlusion as treatments for intractable benign paroxysmal positional vertigo, and to determine if there are published data available that favors one over the other. Data Sources MEDLINE and OLDMEDLINE databases of the National Library of Medicine. Data Synthesis Four studies regarding singular neurectomy and 14 reports on semicircular canal occlusion were analyzed. Both techniques are reported to provide similar symptomatic benefit, with low risk of hearing loss and balance impairment. However, anatomical and clinical studies of singular neurectomy show it to be a more challenging technique, and considering that it is indicated in a very small number of cases, it may be difficult to master. Conclusions Both singular neurectomy and semicircular canal occlusion can be safe and effective in those few patients that require surgery for intractable positional vertigo. Although semicircular canal occlusion requires a postauricular transmastoid approach, it is ultimately easier to learn and perform adequately, and thus may be considered the best alternative.
PMID: 28382130 [PubMed - in process]
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Investigation of the speech results of posterior pharyngeal wall augmentation with fat grafting for treatment of velopharyngeal insufficiency.
Related Articles |
Investigation of the speech results of posterior pharyngeal wall augmentation with fat grafting for treatment of velopharyngeal insufficiency.
J Craniomaxillofac Surg. 2017 Mar 06;:
Authors: Dinsever Eliküçük Ç, Kulak Kayıkcı ME, Esen Aydınlı F, Çalış M, Özgür FF, Öztürk M, Günaydın RÖ
Abstract
PURPOSE: The purpose of this study was to evaluate the speech results of posterior pharyngeal wall augmentation (PPWA) with fat grafting both in the early and late postoperative period, and to clarify the impact of the procedure concomitant with speech therapy.
MATERIALS AND METHODS: This is a prospective case-control study. The study involved 87 cleft palate ± cleft lip patients with velopharyngeal insufficiency (VPI) who has been treated with PPWA. Patients were separated into two groups according to age; the first group consisted of 49 pediatric participants between 6 and 12 years of age and the second group consisted of 38 adolescent participants between 13 and 18 years of age. Preoperative velopharyngeal function and articulation were compared postoperatively at the following time points: the 3rd month, 12th month, 18th month and 24th month. The velopharyngeal function was evaluated with regards to the velopharyngeal closure type and velopharyngeal closure amount, by using the pediatric flexible nasoendoscopy and the nasometer methods. In the nasometer evaluation, nasalance sores were measured by using nonsense syllables and meaningful sentences. The Ankara Articulation Test (AAT) (Ege et al., 2004) was used to detect compensatory articulation products secondary to VPI. Consonant production error types and frequencies were determined according the guidelines stated in the study of Hardin-Jones et al. (2009). These were Pharyngeal Fricatives - Posterior Nasal Fricatives/Stop Production, Glottal Stop Production, Middorsum Palatal Stop Production, Nasal Frictional Production, Posterior Nasal Frictional Production/Phoneme Specific Nasal Emission, use of Nasal Consonants for Oral Consonants, and Replacement of Trills. All the participants received concurrent speech therapy four times, twice in the post-operative period between 1 and 3 months and twice between 3 and 6 months.
RESULTS: PPWA improved the speech performance from the 18th month to 24th month of the postoperative period. AAT assessment of the first group after 24 months comparing the post-PPWA with the preoperative data showed a highly significant decrease with regard to compensatory production errors and hypernasality; however, in the second group, the same comparison revealed a highly significant decrease in regard to the degree of hypernasality and a significant difference in terms of glottal articulation and pharyngealization of fricatives. A circular closure pattern was observed in 17 individuals with cleft palate at a rate of 70.6%.
CONCLUSION: PPWA with concurrent speech therapy is an acceptable surgical method to correct VPI and to improve speech performance.
PMID: 28381372 [PubMed - as supplied by publisher]
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Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Related Articles |
Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Int Arch Otorhinolaryngol. 2017 Apr;21(2):191-194
Authors: Corvera Behar G, García de la Cruz MA
Abstract
Introduction Benign paroxysmal positional vertigo is a generally benign condition that responds to repositioning maneuvers and frequently resolves spontaneously. However, for some patients it can become a disabling condition in which surgery must be considered. Two different surgical techniques exist, singular neurectomy and posterior semicircular canal occlusion. Objective The objective of this study is to review the current status of singular nerve section and posterior semicircular canal occlusion as treatments for intractable benign paroxysmal positional vertigo, and to determine if there are published data available that favors one over the other. Data Sources MEDLINE and OLDMEDLINE databases of the National Library of Medicine. Data Synthesis Four studies regarding singular neurectomy and 14 reports on semicircular canal occlusion were analyzed. Both techniques are reported to provide similar symptomatic benefit, with low risk of hearing loss and balance impairment. However, anatomical and clinical studies of singular neurectomy show it to be a more challenging technique, and considering that it is indicated in a very small number of cases, it may be difficult to master. Conclusions Both singular neurectomy and semicircular canal occlusion can be safe and effective in those few patients that require surgery for intractable positional vertigo. Although semicircular canal occlusion requires a postauricular transmastoid approach, it is ultimately easier to learn and perform adequately, and thus may be considered the best alternative.
PMID: 28382130 [PubMed - in process]
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Investigation of the speech results of posterior pharyngeal wall augmentation with fat grafting for treatment of velopharyngeal insufficiency.
Related Articles |
Investigation of the speech results of posterior pharyngeal wall augmentation with fat grafting for treatment of velopharyngeal insufficiency.
J Craniomaxillofac Surg. 2017 Mar 06;:
Authors: Dinsever Eliküçük Ç, Kulak Kayıkcı ME, Esen Aydınlı F, Çalış M, Özgür FF, Öztürk M, Günaydın RÖ
Abstract
PURPOSE: The purpose of this study was to evaluate the speech results of posterior pharyngeal wall augmentation (PPWA) with fat grafting both in the early and late postoperative period, and to clarify the impact of the procedure concomitant with speech therapy.
MATERIALS AND METHODS: This is a prospective case-control study. The study involved 87 cleft palate ± cleft lip patients with velopharyngeal insufficiency (VPI) who has been treated with PPWA. Patients were separated into two groups according to age; the first group consisted of 49 pediatric participants between 6 and 12 years of age and the second group consisted of 38 adolescent participants between 13 and 18 years of age. Preoperative velopharyngeal function and articulation were compared postoperatively at the following time points: the 3rd month, 12th month, 18th month and 24th month. The velopharyngeal function was evaluated with regards to the velopharyngeal closure type and velopharyngeal closure amount, by using the pediatric flexible nasoendoscopy and the nasometer methods. In the nasometer evaluation, nasalance sores were measured by using nonsense syllables and meaningful sentences. The Ankara Articulation Test (AAT) (Ege et al., 2004) was used to detect compensatory articulation products secondary to VPI. Consonant production error types and frequencies were determined according the guidelines stated in the study of Hardin-Jones et al. (2009). These were Pharyngeal Fricatives - Posterior Nasal Fricatives/Stop Production, Glottal Stop Production, Middorsum Palatal Stop Production, Nasal Frictional Production, Posterior Nasal Frictional Production/Phoneme Specific Nasal Emission, use of Nasal Consonants for Oral Consonants, and Replacement of Trills. All the participants received concurrent speech therapy four times, twice in the post-operative period between 1 and 3 months and twice between 3 and 6 months.
RESULTS: PPWA improved the speech performance from the 18th month to 24th month of the postoperative period. AAT assessment of the first group after 24 months comparing the post-PPWA with the preoperative data showed a highly significant decrease with regard to compensatory production errors and hypernasality; however, in the second group, the same comparison revealed a highly significant decrease in regard to the degree of hypernasality and a significant difference in terms of glottal articulation and pharyngealization of fricatives. A circular closure pattern was observed in 17 individuals with cleft palate at a rate of 70.6%.
CONCLUSION: PPWA with concurrent speech therapy is an acceptable surgical method to correct VPI and to improve speech performance.
PMID: 28381372 [PubMed - as supplied by publisher]
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Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study.
Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study.
JAMA Pediatr. 2017 Apr 03;:
Authors: Global Burden of Disease Child and Adolescent Health Collaboration, Kassebaum N, Kyu HH, Zoeckler L, Olsen HE, Thomas K, Pinho C, Bhutta ZA, Dandona L, Ferrari A, Ghiwot TT, Hay SI, Kinfu Y, Liang X, Lopez A, Malta DC, Mokdad AH, Naghavi M, Patton GC, Salomon J, Sartorius B, Topor-Madry R, Vollset SE, Werdecker A, Whiteford HA, Abate KH, Abbas K, Abreha Damtew S, Ahmed MB, Akseer N, Al-Raddadi R, Alemayohu MA, Altirkawi K, Abajobir AA, Amare AT, Antonio CA, Arnlov J, Artaman A, Asayesh H, Avokpaho EF, Awasthi A, Ayala Quintanilla BP, Bacha U, Balem D, Barac A, Bärnighausen TW, Baye E, Bedi N, Bensenor IM, Berhane A, Bernabe E, Bernal OA, Beyene AS, Biadgilign S, Bikbov B, Boyce CA, Brazinova A, Hailu GB, Carter A, Castañeda-Orjuela CA, Catalá-López F, Charlson FJ, Chitheer AA, Choi JJ, Ciobanu LG, Crump J, Dandona R, Dellavalle RP, Deribew A, deVeber G, Dicker D, Betsu BB, Ding EL, Dubey M, Endries AY, Erskine HE, Faraon EJ, Faro A, Farzadfar F, Fernandes JC, Fijabi DO, Fitzmaurice C, Fleming TD, Flor LS, Foreman KJ, Franklin RC, Fraser MS, Frostad JJ, Fullman N, Gebregergs GB, Gebru AA, Geleijnse JM, Gibney KB, Gidey Yihdego M, Ginawi IA, Gishu MD, Gizachew TA, Glaser E, Gold AL, Goldberg E, Gona P, Goto A, Gugnani HC, Jiang G, Gupta R, Tesfay FH, Hankey GJ, Havmoeller R, Hijar M, Horino M, Hosgood HD, Hu G, Jacobsen KH, Jakovljevic MB, Jayaraman SP, Jha V, Jibat T, Johnson CO, Jonas J, Kasaeian A, Kawakami N, Keiyoro PN, Khalil I, Khang YH, Khubchandani J, Ahmad Kiadaliri AA, Kieling C, Kim D, Kissoon N, Knibbs LD, Koyanagi A, Krohn KJ, Kuate Defo B, Kucuk Bicer B, Kulikoff R, Kumar GA, Lal DK, Lam HY, Larson HJ, Larsson A, Laryea DO, Leung J, Lim SS, Lo LT, Lo WD, Looker KJ, Lotufo PA, Magdy Abd H, El Razek, Malekzadeh R, Markos Shifti D, Mazidi M, Meaney PA, Meles KG, Memiah P, Mendoza W, Abera Mengistie M, Mengistu GW, Mensah GA, Miller TR, Mock C, Mohammadi A, Mohammed S, Monasta L, Mueller U, Nagata C, Naheed A, Nguyen G, Nguyen QL, Nsoesie E, Oh IH, Okoro A, Olusanya JO, Olusanya BO, Ortiz A, Paudel D, Pereira DM, Perico N, Petzold M, Phillips MR, Polanczyk GV, Pourmalek F, Qorbani M, Rafay A, Rahimi-Movaghar V, Rahman M, Rai RK, Ram U, Rankin Z, Remuzzi G, Renzaho AM, Roba HS, Rojas-Rueda D, Ronfani L, Sagar R, Sanabria JR, Kedir Mohammed MS, Santos IS, Satpathy M, Sawhney M, Schöttker B, Schwebel DC, Scott JG, Sepanlou SG, Shaheen A, Shaikh MA, She J, Shiri R, Shiue I, Sigfusdottir ID, Singh J, Slipakit N, Smith A, Sreeramareddy C, Stanaway JD, Stein DJ, Steiner C, Sufiyan MB, Swaminathan S, Tabarés-Seisdedos R, Tabb KM, Tadese F, Tavakkoli M, Taye B, Teeple S, Tegegne TK, Temam Shifa G, Terkawi AS, Thomas B, Thomson AJ, Tobe-Gai R, Tonelli M, Tran BX, Troeger C, Ukwaja KN, Uthman O, Vasankari T, Venketasubramanian N, Vlassov VV, Weiderpass E, Weintraub R, Gebrehiwot SW, Westerman R, Williams HC, Wolfe CD, Woodbrook R, Yano Y, Yonemoto N, Yoon SJ, Younis MZ, Yu C, Zaki ME, Zegeye EA, Zuhlke LJ, Murray CJ, Vos T
Abstract
Importance: Comprehensive and timely monitoring of disease burden in all age groups, including children and adolescents, is essential for improving population health.
Objective: To quantify and describe levels and trends of mortality and nonfatal health outcomes among children and adolescents from 1990 to 2015 to provide a framework for policy discussion.
Evidence Review: Cause-specific mortality and nonfatal health outcomes were analyzed for 195 countries and territories by age group, sex, and year from 1990 to 2015 using standardized approaches for data processing and statistical modeling, with subsequent analysis of the findings to describe levels and trends across geography and time among children and adolescents 19 years or younger. A composite indicator of income, education, and fertility was developed (Socio-demographic Index [SDI]) for each geographic unit and year, which evaluates the historical association between SDI and health loss.
Findings: Global child and adolescent mortality decreased from 14.18 million (95% uncertainty interval [UI], 14.09 million to 14.28 million) deaths in 1990 to 7.26 million (95% UI, 7.14 million to 7.39 million) deaths in 2015, but progress has been unevenly distributed. Countries with a lower SDI had a larger proportion of mortality burden (75%) in 2015 than was the case in 1990 (61%). Most deaths in 2015 occurred in South Asia and sub-Saharan Africa. Global trends were driven by reductions in mortality owing to infectious, nutritional, and neonatal disorders, which in the aggregate led to a relative increase in the importance of noncommunicable diseases and injuries in explaining global disease burden. The absolute burden of disability in children and adolescents increased 4.3% (95% UI, 3.1%-5.6%) from 1990 to 2015, with much of the increase owing to population growth and improved survival for children and adolescents to older ages. Other than infectious conditions, many top causes of disability are associated with long-term sequelae of conditions present at birth (eg, neonatal disorders, congenital birth defects, and hemoglobinopathies) and complications of a variety of infections and nutritional deficiencies. Anemia, developmental intellectual disability, hearing loss, epilepsy, and vision loss are important contributors to childhood disability that can arise from multiple causes. Maternal and reproductive health remains a key cause of disease burden in adolescent females, especially in lower-SDI countries. In low-SDI countries, mortality is the primary driver of health loss for children and adolescents, whereas disability predominates in higher-SDI locations; the specific pattern of epidemiological transition varies across diseases and injuries.
Conclusions and Relevance: Consistent international attention and investment have led to sustained improvements in causes of health loss among children and adolescents in many countries, although progress has been uneven. The persistence of infectious diseases in some countries, coupled with ongoing epidemiologic transition to injuries and noncommunicable diseases, require all countries to carefully evaluate and implement appropriate strategies to maximize the health of their children and adolescents and for the international community to carefully consider which elements of child and adolescent health should be monitored.
PMID: 28384795 [PubMed - as supplied by publisher]
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Superior Canal Dehiscence Syndrome Affecting 3 Families.
Superior Canal Dehiscence Syndrome Affecting 3 Families.
JAMA Otolaryngol Head Neck Surg. 2017 Apr 06;:
Authors: Heidenreich KD, Kileny PR, Ahmed S, El-Kashlan HK, Melendez TL, Basura GJ, Lesperance MM
Abstract
Importance: Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown.
Objective: To describe 7 cases of SCDS across 3 families.
Design, Setting, and Participants: This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence.
Interventions: Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings.
Main Outcomes and Measures: The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence.
Results: A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0.
Conclusions and Relevance: Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology. Symptomatic first-degree relatives of patients diagnosed with SCDS should be offered evaluation to improve detection of this disorder.
PMID: 28384775 [PubMed - as supplied by publisher]
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Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.
Sci Rep. 2017 Apr 06;7:45973
Authors: Jung J, Lee JS, Cho KJ, Yu S, Yoon JH, Yung Gee H, Choi JY
Abstract
Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profound non-syndromic hearing loss (NSHL) without familial history were analyzed using Sanger sequencing. Genetic analysis of individuals without mutations in SLC26A4 and GJB2 was performed by whole exome sequencing (WES). Bi-allelic mutations in SLC26A4 and GJB2 were identified in 12 and 3 subjects, respectively. Of the 13 individuals without mutations in SLC26A4 and GJB2, 2 and 1 carried compound heterozygous mutations in MYO15A and CDH23, respectively. Thus, 64.3% (18/28) of individuals with NSHL were determined to be genetically predisposed. Individuals with sporadic severe-to-profound NSHL were found to mostly exhibit an autosomal recessive inheritance pattern. Novel causative candidate genes for NSHL were identified by analysis of WES data of 10 families without mutations in known causative genes. Bi-allelic mutations predisposing to NSHL were identified in 64.3% of subjects with sporadic severe-to-profound NSHL. Given that several causative genes for NSHL are still unidentified, genetic inheritance of sporadic congenital hearing loss could be more common than that indicated by our results.
PMID: 28383030 [PubMed - in process]
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Use of Baby Isao Simulator and Standardized Parents in Hearing Screening and Parent Counseling Education.
Related Articles |
Use of Baby Isao Simulator and Standardized Parents in Hearing Screening and Parent Counseling Education.
Am J Audiol. 2016 Sep 01;25(3):211-23
Authors: Alanazi AA, Nicholson N, Atcherson SR, Franklin C, Anders M, Nagaraj N, Franklin J, Highley P
Abstract
PURPOSE: The primary purpose of this study was to test the effect of the combined use of trained standardized parents and a baby simulator on students' hearing screening and parental counseling knowledge and skills.
METHOD: A one-group pretest-posttest quasi-experimental study design was used to assess self-ratings of confidence in knowledge and skills and satisfaction of the educational experience with standardized parents and a baby simulator. The mean age of the 14 audiology students participating in this study was 24.79 years (SD = 1.58). Participants completed a pre- and postevent questionnaire in which they rated their level of confidence for specific knowledge and skills. Six students (2 students in each scenario) volunteered to participate in the infant hearing screening and counseling scenarios, whereas others participated as observers. All participants participated in the briefing and debriefing sessions immediately before and after each of 3 scenarios. After the last scenario, participants were asked to complete a satisfaction survey of their learning experience using simulation and standardized parents.
RESULTS: Overall, the pre- and post-simulation event questionnaire revealed a significant improvement in the participants' self-rated confidence levels regarding knowledge and skills. The mean difference between pre- and postevent scores was 0.52 (p < .01). The mean satisfaction level was 4.71 (range = 3.91-5.00; SD = 0.30) based on a Likert scale, where 1 = not satisfied and 5 = very satisfied.
CONCLUSIONS: The results of this novel educational activity demonstrate the value of using infant hearing screening and parental counseling simulation sessions to enhance student learning. In addition, this study demonstrates the use of simulation and standardized parents as an important pedagogical tool for audiology students. Students experienced a high level of satisfaction with the learning experience.
PMID: 27653494 [PubMed - indexed for MEDLINE]
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GeneReviews(®)
GeneReviews(®)
Book. 1993
Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K
Abstract
CLINICAL CHARACTERISTICS: FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and global developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant global developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days - 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.
DIAGNOSIS/TESTING: The diagnosis of FBXL4-related mtDNA depletion syndrome is established in a proband by identification of biallelic pathogenic variants in FBXL4 on molecular genetic testing.
MANAGEMENT: Treatment of manifestations: Management is best provided by a multidisciplinary team including neurology, nutrition, clinical genetics/metabolism, and developmental pediatrics. Other specialties may be involved as needed. To date no definite treatment is available; thus, treatment is mainly supportive: assuring adequate nutrition and standard treatment of neurologic complications including developmental delay/intellectual disability, seizures, cardiac complications, eye involvement, and hearing loss. Administration of cofactors and antioxidants, used in mitochondrial disorders with (generally) limited evidence of benefit, may be considered. Surveillance: No surveillance guidelines have been published. The treating physician should decide about the frequency of follow up of eyes, hearing, heart, feeding difficulties, liver, neurologic complications, and neutropenia based on the patient’s findings.
GENETIC COUNSELING: FBXL4-related mtDNA depletion syndrome is inherited in an autosomal recessive manner. When both parents are heterozygous carriers, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier (heterozygote), and a 25% chance of being unaffected and not a carrier. Once the FBXL4 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic diagnosis are possible.
PMID: 28383868
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Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Related Articles |
Surgical Treatment for Recurrent Benign Paroxysmal Positional Vertigo.
Int Arch Otorhinolaryngol. 2017 Apr;21(2):191-194
Authors: Corvera Behar G, García de la Cruz MA
Abstract
Introduction Benign paroxysmal positional vertigo is a generally benign condition that responds to repositioning maneuvers and frequently resolves spontaneously. However, for some patients it can become a disabling condition in which surgery must be considered. Two different surgical techniques exist, singular neurectomy and posterior semicircular canal occlusion. Objective The objective of this study is to review the current status of singular nerve section and posterior semicircular canal occlusion as treatments for intractable benign paroxysmal positional vertigo, and to determine if there are published data available that favors one over the other. Data Sources MEDLINE and OLDMEDLINE databases of the National Library of Medicine. Data Synthesis Four studies regarding singular neurectomy and 14 reports on semicircular canal occlusion were analyzed. Both techniques are reported to provide similar symptomatic benefit, with low risk of hearing loss and balance impairment. However, anatomical and clinical studies of singular neurectomy show it to be a more challenging technique, and considering that it is indicated in a very small number of cases, it may be difficult to master. Conclusions Both singular neurectomy and semicircular canal occlusion can be safe and effective in those few patients that require surgery for intractable positional vertigo. Although semicircular canal occlusion requires a postauricular transmastoid approach, it is ultimately easier to learn and perform adequately, and thus may be considered the best alternative.
PMID: 28382130 [PubMed - in process]
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Reproducibility of the Balance Evaluation Systems Test (BESTest) and the Mini-BESTest in school-aged children
Source:Gait & Posture
Author(s): R. Dewar, A.P. Claus, K. Tucker, R. Ware, L.M. Johnston
This study evaluated the intra-rater, inter-rater and test-retest reproducibility of the Full-BESTest and Mini-BESTest when assessing postural control in children. Thirty-four children aged 7-17 years participated in intra-rater and inter-rater evaluation, and 22 children repeated assessment six weeks later for evaluation of test-retest reliability. Postural control was assessed using the Full Balance Evaluation Systems Test (Full-BESTest) and the short-form Mini-BESTest. Intra-rater, inter-rater and test-retest reproducibility were examined using video assessment. Test-retest reproducibility was also assessed in real-time. Reproducibility was examined by agreement and reliability statistics. Agreement was calculated using percentage of agreement, Limits of Agreement and Smallest Detectable Change. Reliability was calculated using Intra-class Correlation Coefficients. Results showed that the reliability of Total Scores was excellent for the Full-BESTest for all conditions (all ICCs>0.82), whereas the Mini-BESTest ranged from fair to excellent (ICC=0.56 to 0.86). Percentage of Domain Scores with good-excellent reliability (ICCs>0.60) was slightly higher for the Full-BESTest (66%) compared to the Mini-BESTest (59%). Smallest Detectable Change scores were good to excellent for the Full-BESTest (2% to 6%) and for the Mini-BESTest (5% to 10%) relative to total test scores. Both the Full-BESTest and Mini-BESTest can discriminate postural control abilities within and between days in school-aged children. The Full-BESTest has slightly better reproducibility and a broader range of items, which could be the most useful version for treatment planning. We propose minor modifications are recommended to improve reproducibility for children, and indicate the modified version by the title Kids-BESTest. Future psychometric research is recommended for specific paediatric clinical populations.
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Reproducibility of the Balance Evaluation Systems Test (BESTest) and the Mini-BESTest in school-aged children
Source:Gait & Posture
Author(s): R. Dewar, A.P. Claus, K. Tucker, R. Ware, L.M. Johnston
This study evaluated the intra-rater, inter-rater and test-retest reproducibility of the Full-BESTest and Mini-BESTest when assessing postural control in children. Thirty-four children aged 7-17 years participated in intra-rater and inter-rater evaluation, and 22 children repeated assessment six weeks later for evaluation of test-retest reliability. Postural control was assessed using the Full Balance Evaluation Systems Test (Full-BESTest) and the short-form Mini-BESTest. Intra-rater, inter-rater and test-retest reproducibility were examined using video assessment. Test-retest reproducibility was also assessed in real-time. Reproducibility was examined by agreement and reliability statistics. Agreement was calculated using percentage of agreement, Limits of Agreement and Smallest Detectable Change. Reliability was calculated using Intra-class Correlation Coefficients. Results showed that the reliability of Total Scores was excellent for the Full-BESTest for all conditions (all ICCs>0.82), whereas the Mini-BESTest ranged from fair to excellent (ICC=0.56 to 0.86). Percentage of Domain Scores with good-excellent reliability (ICCs>0.60) was slightly higher for the Full-BESTest (66%) compared to the Mini-BESTest (59%). Smallest Detectable Change scores were good to excellent for the Full-BESTest (2% to 6%) and for the Mini-BESTest (5% to 10%) relative to total test scores. Both the Full-BESTest and Mini-BESTest can discriminate postural control abilities within and between days in school-aged children. The Full-BESTest has slightly better reproducibility and a broader range of items, which could be the most useful version for treatment planning. We propose minor modifications are recommended to improve reproducibility for children, and indicate the modified version by the title Kids-BESTest. Future psychometric research is recommended for specific paediatric clinical populations.
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Reproducibility of the Balance Evaluation Systems Test (BESTest) and the Mini-BESTest in school-aged children
Source:Gait & Posture
Author(s): R. Dewar, A.P. Claus, K. Tucker, R. Ware, L.M. Johnston
This study evaluated the intra-rater, inter-rater and test-retest reproducibility of the Full-BESTest and Mini-BESTest when assessing postural control in children. Thirty-four children aged 7-17 years participated in intra-rater and inter-rater evaluation, and 22 children repeated assessment six weeks later for evaluation of test-retest reliability. Postural control was assessed using the Full Balance Evaluation Systems Test (Full-BESTest) and the short-form Mini-BESTest. Intra-rater, inter-rater and test-retest reproducibility were examined using video assessment. Test-retest reproducibility was also assessed in real-time. Reproducibility was examined by agreement and reliability statistics. Agreement was calculated using percentage of agreement, Limits of Agreement and Smallest Detectable Change. Reliability was calculated using Intra-class Correlation Coefficients. Results showed that the reliability of Total Scores was excellent for the Full-BESTest for all conditions (all ICCs>0.82), whereas the Mini-BESTest ranged from fair to excellent (ICC=0.56 to 0.86). Percentage of Domain Scores with good-excellent reliability (ICCs>0.60) was slightly higher for the Full-BESTest (66%) compared to the Mini-BESTest (59%). Smallest Detectable Change scores were good to excellent for the Full-BESTest (2% to 6%) and for the Mini-BESTest (5% to 10%) relative to total test scores. Both the Full-BESTest and Mini-BESTest can discriminate postural control abilities within and between days in school-aged children. The Full-BESTest has slightly better reproducibility and a broader range of items, which could be the most useful version for treatment planning. We propose minor modifications are recommended to improve reproducibility for children, and indicate the modified version by the title Kids-BESTest. Future psychometric research is recommended for specific paediatric clinical populations.
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