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PURPOSE: Observational study to determine if the voice-related self-concept as measured via the Fragebogen zur Erfassung des Stimmlichen Selbstkonzepts FESS (questionnaire for the assessment of the voice self-concept) can be improved through in-patient voice therapy. METHODS: 234 female and 80 male patients that underwent an intensive 3- to 4-week in-patient voice treatment due to varying types of dysphonia. After imputation of missing items but not missing questionnaires, 255 patients were eligible for FESS evaluation, 313 for VHI-12 evaluation. The German questionnaire for the assessment of the voice self-concept (FESS) and the German 12-item short-form of the Voice Handicap Index (VHI-12) were administered at the beginning and at the end of the hospital stay. Before-after comparisons are made visually and via t test. RESULTS: The Voice Handicap was significantly reduced, demonstrating the effectiveness of the administered therapy. Of the three scales of the FESS, the relationship with one's own voice and the awareness of the use of one's own voice was increased and thus improved. The connection between voice and emotional changes decreased significantly but only slightly. CONCLUSION: Conservative voice rehabilitation can not only reduce the voice handicap, but also improve the voice self-concept and the results can be measured.
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Disfonía , Voz , Tratamiento Conservador , Evaluación de la Discapacidad , Disfonía/etiología , Disfonía/terapia , Femenino , Humanos , Masculino , Autoimagen , Índice de Severidad de la Enfermedad , Encuestas y CuestionariosRESUMEN
Purpose The Vocal Tract Discomfort Scale (VTD Scale) is a self-rating questionnaire investigating physical symptoms in the larynx associated with vocal pathology. The aim of this work was to investigate the reliability, validity, sensitivity, and specificity of the first German version and to provide normative data with thresholds for pathology and a scaling scheme. Study Design A retrospective multicenter study was performed. Method A total of 571 participants (409 female and 162 male), with a mean age of 47.2 years, were recruited at three German centers; of these, there were 447 participants with voice disorder and 124 vocally healthy participants. The clinical examination consisted of patient history, visual laryngeal examination, acoustic and aerodynamic assessment, perceptual analysis by the Grading-Roughness-Breathiness-Asthenia-Strain Scale, and subjective evaluation using the VTD Scale and the Voice Handicap Index (VHI). Statistics included group comparisons (t test and analysis of variance), Pearson correlation coefficient (between VTD Scale and VHI), and Cronbach's alpha to assess validity and reliability. Analysis of receiver operating characteristics was performed to examine VTD Scale's discriminatory ability and provide a cutoff score. Additionally, percentiles were applied to provide VTD Scale ranges. Results There were highly significant differences between healthy participants and participants with voice disorder regarding the total score and both subscales of the VTD Scale. Internal consistency was excellent (α = .928). We found moderate, positive correlation between the VTD Scale and VHI (ρ = .596, p < .001). Receiver operating characteristics analysis showed an area under the curve of 0.876 (p < .001, 95% confidence interval [0.846, 0.906]). VTD Scale ranges were no (score: 0-13), mild (score: 14-26), moderate (score: 27-40), and severe (score: 41-96) disorder. Conclusions Results confirm an excellent reliability and validity of the German VTD Scale. It provides additional and independent diagnostic information and is a useful instrument to complement voice assessment. The scaling into four severity subgroups allows the tool to be used for screening patients and considers a transferral to a voice specialist.
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Trastornos de la Voz , Calidad de la Voz , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Trastornos de la Voz/diagnósticoRESUMEN
BACKGROUND: Studies from primarily English-speaking countries have shown that specific language impairments can lead to disadvantages in educational and professional development. Corresponding studies for Germany have not been published. This study surveys the educational and language outcomes of adolescents and young adults who were treated in an inpatient setting during childhood. MATERIALS AND METHODS: A total of 193 young adults who had received inpatient treatment between 1998 and 2005 at the Department of Communication Disorders of the Department of Otorhinolaryngology, Head, and Neck Surgery (ENT) of the Mainz University Medical Center were assessed. The cohort was contacted by telephone and interviewed about aspects of their educational and language development using a specially developed questionnaire. It was possible to include 70 participants in the study. RESULTS: Almost half (48.6%; nâ¯= 34) of the participants had attended a regular elementary school and 50% (nâ¯= 35) attended a special school with a focus on speech-language development (others: 1.4%, nâ¯= 1). Regarding school-leaving qualifications, 31.5% (nâ¯= 22) finished school with an Abitur/Fachabitur (high-school-level certificate), 33% (nâ¯= 23) with a Realschulabschluss (secondary school certificate), 30% (nâ¯= 21) with a Hauptschulabschluss (lower secondary certificate), and 4% (nâ¯= 3) with a special school certificate. Only one participant left school without a qualification. Of the interviewed participants, 71% (nâ¯= 50) do not feel any speech language limitations anymore. CONCLUSION: The results indicate a positive educational and language development of children with SLI after inpatient treatment in Germany. Over 90% of the participants finished school with a regular certification and most of them do not feel any speech and language limitations anymore.
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Trastornos del Desarrollo del Lenguaje , Trastorno Específico del Lenguaje , Adolescente , Niño , Humanos , Pacientes Internos , Desarrollo del Lenguaje , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos del Desarrollo del Lenguaje/epidemiología , Trastornos del Desarrollo del Lenguaje/terapia , Logopedia , Adulto JovenRESUMEN
Surgical and nonsurgical management options for head and neck cancer frequently lead to impaired swallowing. Swallowing outcome can be assessed using subjective measures like inventories or applying clinical assessments concerning food selection, eating duration or the necessity of a percutaneous endoscopic gastrostomy (PEG) and instrumental assessments like fiberoptic endoscopic evaluation of swallowing (FEES).The objective of this study was to investigate the outcomes of an in-patient rehabilitation in patients with dysphagia after the treatment of head and neck cancer. At the begin and after completion of this treatment 219 participants (138 male) aged 62.8â±â10.2 years completed the German version of the Eating Assessment Tool (EAT-10). Integrating anamnestic and clinical assessment data a rating following the Bogenhausener Dysphagiescore (BODS) was conducted at both times.Swallowing function improved significantly in both assessments, but both parameters were only moderately correlated. Improvements in both parameters were not correlated.Both dimensions of dysphagia, expert assessment and subjective measures should be used complementary.
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Trastornos de Deglución , Neoplasias de Cabeza y Cuello , Anciano , Deglución , Trastornos de Deglución/etiología , Trastornos de Deglución/terapia , Endoscopía , Neoplasias de Cabeza y Cuello/terapia , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: The objective is to produce a short instrument for measuring the subjectively experienced articulation handicap, i.e. the extent to which physical, functional, and emotional handicaps caused by a physical deficit are subjectively experienced. METHODS: The items for the short instrument were selected from the 30 items of the Articulation Handicap Index (AHI) by removing items on the basis of item-total correlations using data from 113 cancer survivors. Reliability and validity of the sum score of the corresponding item selection were used for determining the optimal item selection. This optimal item selection was compared with the AHI in an RCT with patients undergoing phoniatric routine diagnostics. RESULTS: With only 12 items left, the measurement instrument was still as reliable and valid as the AHI. With less than 12 items, reliability and validity decreased. In the RCT between the AHI (n = 41) and the 12-item selection (n = 40), reliability and validity of both instruments were the same, but processing times differed (AHI; 3.84 min; 12-item selection: 2.02 min). CONCLUSION: The 12-item selection, further referred to as the Articulation Handicap Scale with 12 items (AHS-12), provides nearly as much information as the original AHI.
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Emociones , Calidad de la Voz , Humanos , Psicometría , Calidad de Vida , Reproducibilidad de los Resultados , Encuestas y CuestionariosRESUMEN
BACKGROUND: In Germany, about 5 million people of all ages suffer from dysphagia. Due to demographic change and improved medical care, the incidence of swallowing disorders is expected to increase. Dysphagia is associated with an increased morbidity and mortality and leads to a considerable financial burden on the health systems. The two most common causes of dysphagia are neurological disorders and head and neck cancer. Diagnostics and therapy have developed continuously over the past decades. In particular, the flexible endoscopic evaluation of swallowing (FEES) has become an established part of dysphagia diagnostics. RESULTS: The certificate "Diagnostics and Therapy of Oropharyngeal Dysphagia, incl. FEES" was developed by the German Society for Phoniatrics and Pedaudiology (DGPP) and the German Society for Otolaryngology, Head and Neck Surgery (DGHNO KHC) in cooperation with the German Professional Association for Phoniatrics and Pedaudiology and the German Professional Association of Otolaryngologists.It consists of three parts: the modules (A, B and C), the indirect supervision and a practical examination. Structure, detailed contents and requirements for obtaining the certificate are described in the following article. The qualification of the lecturers and auditors are also defined. CONCLUSION: The systematic training serves the quality assurance and establishment of standards in the diagnostics and therapy of oropharyngeal dysphagia in the area of phoniatrics and ear, nose and throat medicine.
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Trastornos de Deglución , Curriculum , Deglución , Alemania , Humanos , OtolaringologíaRESUMEN
OBJECTIVES: Many studies examining early bilingualism in migrant populations focus on the development of the first language. As language acquisition is closely related to the hearing development, there is a critical need to investigate language development in hearing-impaired children being raised bilingually who were fitted with cochlear implants and/or hearing aids. Therefore, this research project aimed to study the linguistic development of hearing-impaired children being raised with German as a second language who were provided with hearing aids or cochlear implants. Further, the language development of these children is compared with that of hearing-impaired children being raised in a monolingual environment and with normal-hearing children being raised bilingually. METHODS: In this prospective study, we analyzed data from 95 typically developing children with hearing loss (43 bilingual and 52 monolingual) aged 3;0 to 10;11 (years; months) on four language measures in German: receptive vocabulary, productive vocabulary, receptive grammar, productive grammar (sentence repetition). Additionally, 30 bilingual children with normal hearing were included in this study. RESULTS: 44 children were provided with hearing aids in both ears; 34 used cochlear implants bilaterally and 17 were fitted bimodally. Statistical analysis showed that bilingual hearing-impaired children scored significantly poorer than monolingual hearing-impaired children. CONCLUSION: Hearing-impaired children being raised bilingually should have speech and language examinations on a regular basis. An examination of both languages would be desirable in order to be able to fully assess speech and language acquisition.
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Pérdida Auditiva/fisiopatología , Trastornos del Desarrollo del Lenguaje/etiología , Desarrollo del Lenguaje , Multilingüismo , Habla/fisiología , Audiometría/métodos , Niño , Preescolar , Implantación Coclear , Implantes Cocleares/estadística & datos numéricos , Femenino , Alemania , Audición , Audífonos/estadística & datos numéricos , Pérdida Auditiva/rehabilitación , Humanos , Lenguaje , Trastornos del Desarrollo del Lenguaje/epidemiología , Pruebas del Lenguaje/estadística & datos numéricos , Masculino , Personas con Deficiencia Auditiva/rehabilitación , Estudios Prospectivos , Percepción del HablaRESUMEN
Purpose: The present trial investigated the D.E.L.P.H.I.N. (Deblockierungsimpuls, Entspannung, Logopädie, Phonetik, Hör-Wahrnehmungstraining, Intensität, nasaler Schwingungsakzent) speech treatment for children and adolescents who stutter, an approach using fluency shaping with an intensive time schedule and group sessions. Methods: Participants were 42 male and 14 female persons who stuttered with a median age of 13.0 years. Participants and their parents completed the strength and difficulties questionnaire at the beginning of the therapy and 1 year later. Participants completed the Speech Questionnaire, an instrument to measure the impact of stuttering, twice before and twice after completing the therapy. The stuttering rate and mean length of the three longest stuttering events were studied four times in videos of interviews, reading texts and three telephone calls. Outcomes are reported for the 56 children and young adults who stuttered and who completed D.E.L.P.H.I.N. The main analysis was performed using linear mixed models. Results: Quality of life as measured in the Strength and Difficulties Questionnaire (SDQ) - filled in by the participants/their parents - increased significantly from before the start of the therapy to 1 year after completion of the therapy. The subjective rating of the impact of stuttering also improved significantly. The stuttering rate and mean length of the longest stuttering event decreased significantly for all three modes from pre-treatment to 12 months post-treatment. Conclusions: After D.E.L.P.H.I.N., a significant improvement of the relevant endpoints quality of life, impact of stuttering, and severity of stuttering is observed.
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Conducta del Adolescente , Conducta Infantil , Logopedia/métodos , Habla , Tartamudeo/terapia , Calidad de la Voz , Adolescente , Adulto , Factores de Edad , Niño , Costo de Enfermedad , Femenino , Alemania , Humanos , Masculino , Calidad de Vida , Medición de la Producción del Habla , Tartamudeo/diagnóstico , Tartamudeo/fisiopatología , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento , Grabación en Video , Adulto JovenRESUMEN
INTRODUCTION: The introduction of neonatal hearing screening and the increasingly early age at which children can receive a cochlear implant has intensified the need for a validated questionnaire to assess the speech production of children aged 0â18. Such a questionnaire has been created, the LittlEARS® Early Speech Production Questionnaire (LEESPQ). This study aimed to validate a second, revised edition of the LEESPQ. METHODS AND MATERIALS: Questionnaires were returned for 362 children with normal hearing. Completed questionnaires were analysed to determine if the LEESPQ is reliable, prognostically accurate, internally consistent, and if gender or multilingualism affects total scores. RESULTS: Total scores correlated positively with age. The LEESPQ is reliable, accurate, and consistent, and independent of gender or lingual status. A norm curve was created. DISCUSSION: This second version of the LEESPQ is a valid tool to assess the speech production development of children with normal hearing, aged 0â18, regardless of their gender. As such, the LEESPQ may be a useful tool to monitor the development of paediatric hearing device users. CONCLUSION: The second version of the LEESPQ is a valid instrument for assessing early speech production of children aged 0â18 months.
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Desarrollo del Lenguaje , Habla/fisiología , Encuestas y Cuestionarios , Femenino , Alemania , Humanos , Lactante , Recién Nacido , Masculino , Valores de ReferenciaRESUMEN
Objective Since many years it has been conjectured that tracheotomy/tracheostomy interferes with swallowing and leads to a higher risk of aspiration. The aim of this review was to contribute to the discussion whether there is a causal relationship between tracheotomy/tracheostomy and dysphagia or only a chronological concomitance. Material and Methods Citations for this review rest upon a research in PubMed data base of the National Center for Biotechnology Information (NCBI). Results Effects of tracheostomy/tracheotomy as well as effects of different cannulas on motoric and sensory aspects of deglutition have been reviewed. Most papers focused on aspiration. Reported data were extremely heterogeneous. Finally no causal relationship between tracheotomy and dysphagia could be demonstrated. Conclusions Tracheo(s)tomized patients require a special awareness in respect to concomitant dysphagia. However, swallowing problems are considered to be primarily caused rather by underlying diseases than by the existence of the tracheostomy itself.
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Trastornos de Deglución/diagnóstico , Trastornos de Deglución/etiología , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/etiología , Traqueotomía , Animales , Diagnóstico Diferencial , Modelos Animales de Enfermedad , Humanos , Factores de RiesgoRESUMEN
OBJECTIVE: Universal Newborn Hearing Screening programs, now instituted throughout the German-speaking countries, allow hearing loss to be detected and treated much earlier than ever before. With this earlier detection, arises the need for tools fit for assessing the very early speech and language production development of today's younger (0-18 month old) children. We have created the LittlEARS® Early Speech Production Questionnaire, with the aim of meeting this need. METHODS: 600 questionnaires of the pilot version of the LittlEARS® Early Speech Production Questionnaire were distributed to parents via pediatricians' practices, day care centers, and personal contact. The completed questionnaires were statistically analyzed to determine their reliability, predictive accuracy, internal consistency, and to what extent gender or unilingualism influenced a child's score. Further, a norm curve was generated to plot the children's increased expected speech production ability with age. RESULTS: Analysis of the data from the 352/600 returned questionnaires revealed that scores on LittlEARS® Early Speech Production Questionnaire correlate positively with a child's age, with older children scoring higher than do younger children. Further, the questionnaire has a high measuring reliability, high predictability, high unidemensionality of scale, and is not significantly gender or uni-/multilingually biased. A norm curve for expected development with age was created. CONCLUSIONS: The LittlEARS® Early Speech Production Questionnaire (LEESPQ) is a valid tool for assessing the most important milestones in very early development of speech and language production of German language children with normal hearing aged 0-18 months old. The questionnaire is a potentially useful tool for long-term infant screening and follow-up testing and for children with normal hearing and those who would benefit from or use hearing devices.
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Desarrollo del Lenguaje , Habla , Encuestas y Cuestionarios , Factores de Edad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Padres , Reproducibilidad de los Resultados , Factores Sexuales , Trastornos del Habla/diagnósticoRESUMEN
Structural, neurological and muscular diseases can lead to impairments of articulation. These impairments can severely impact social life. To judge health status comprehensively, this impact must be adequately quantified. For this purpose, the articulation handicap index (AHI) has been developed. Psychometric analyses referring to this index are presented here. The AHI was completed by 113 patients who had undergone treatment of tumours of the head or neck. The patients also gave a general self-assessment of their impairments due to articulation problems. Furthermore, tumour size, tumour location and kind of therapy were recorded. Missing data were analysed and replaced by multiple imputation. Internal structure was investigated using principal component analysis (PCA); reliability using Cronbach's alpha. Validity was investigated by analysing the relationship between AHI and general self-assessment of impairments. Moreover, the relationships with tumour size, tumour location and kind of therapy were analysed. Only 0.12 % of the answers to the AHI were missing. The Scree test performed with the PCA results suggested one-dimensionality with the first component explaining 49.6 % of the item variance. Cronbach's alpha was 0.96. Kendall's tau between the AHI sum score and the general self-assessment was 0.69. The intervals of AHI sum scores for the self-assessment categories were determined with 0-13 for no, 14-44 for mild, 46-76 for moderate, and 77-120 for severe impairment. The AHI sum score did not systematically relate to tumour size, tumour location or kind of therapy. The results are evidence for high acceptance, reliability and validity.
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Trastornos de la Articulación/psicología , Encuestas y Cuestionarios , Adulto , Anciano , Trastornos de la Articulación/etiología , Femenino , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/terapia , Estado de Salud , Humanos , Masculino , Persona de Mediana Edad , Análisis de Componente Principal , Psicometría , Calidad de Vida/psicología , Reproducibilidad de los Resultados , Autoevaluación (Psicología) , Pruebas de Articulación del HablaRESUMEN
OBJECTIVE: PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the first proband described in 2009 (proband 2). DESIGN: Proband 1 was sequenced using a custom-designed next generation sequencing panel consisting of 151 deafness genes. Bioinformatics analysis and filtering disclosed two PDZD7 sequence variants (c.1648C>T, p.Q550* and c.2107del, p.S703Vfs*20). Segregation testing followed in the family. For both probands, audiograms were collected and analyzed for progressive hearing loss and detailed ophthalmic evaluations were performed including electroretinography. RESULTS: Proband 1 demonstrated a prelingual, nonsyndromic, sensorineural hearing loss that progressed in the higher frequencies between 4 and 9 years old. PDZD7 segregation analysis confirmed biallelic inheritance (compound heterozygosity). Mutation analysis determined the c.1648C>T mutation as novel and reported the c.2107del deletion as rs397516633 with a calculated minor allele frequency of 0.000018. Clinical evaluation spanning well over a decade in proband 2 disclosed bilateral, nonprogressive hearing loss. Both probands showed healthy retinas, excluding Usher syndrome-like changes in the eye. CONCLUSIONS: PDZD7 is confirmed as a bona fide autosomal recessive nonsyndromic hearing loss gene. In both probands, there was no evidence of impaired vision or ophthalmic pathology. As the current understanding of PDZD7 mutations bridge Mendelian and complex phenotypes, the authors recommend careful variant interpretation, since PDZD7 is one of many genes associated with both Usher syndrome and autosomal recessive nonsyndromic hearing loss. Additional reports are required for understanding the complete phenotypic spectrum of this gene, including the possibility of high-frequency progression, as well as noise-induced hearing loss susceptibility in adult carriers. This report rules out all forms of Usher syndrome with an onset before 12 and 15 years old in probands 1 and 2, respectively. However, due to the young ages of the probands, this report is uninformative regarding older patients.
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Proteínas Portadoras/genética , Pérdida Auditiva Sensorineural/genética , Adolescente , Alelos , Audiometría de Tonos Puros , Niño , Potenciales Evocados Auditivos del Tronco Encefálico , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Masculino , Mutación , Emisiones Otoacústicas Espontáneas , Análisis de Secuencia de ADNRESUMEN
The aims of the present multi-center study were to investigate the extent of mental health problems in adolescents with a hearing loss and cochlear implants (CIs) in comparison to normal hearing (NH) peers and to investigate possible relations between the extent of mental health problems of young CI users and hearing variables, such as age at implantation, or functional gain of CI. The survey included 140 adolescents with CI (mean age = 14.7, SD = 1.5 years) and 140 NH adolescents (mean age = 14.8, SD = 1.4 years), their parents and teachers. Participants were matched by age, gender and social background. Within the CI group, 35 adolescents were identified as "risk cases" due to possible and manifest additional handicaps, and 11 adolescents were non-classifiable. Mental health problems were assessed with the Strengths and Difficulties Questionnaire (SDQ) in the versions "Self," "Parent," and "Teacher." The CI group showed significantly more "Peer Problems" than the NH group. When the CI group was split into a "risk-group" (35 "risk cases" and 11 non-classifiable persons) and a "non-risk group" (n = 94), increased peer problems were perceived in both CI subgroups by adolescents themselves. However, no further differences between the CI non-risk group and the NH group were observed in any rater. The CI risk-group showed significantly more hyperactivity compared to the NH group and more hyperactivity and conduct problems compared to the CI non-risk group. Cluster analyses confirmed that there were significantly more adolescents with high problems in the CI risk-group compared to the CI non-risk group and the NH group. Adolescents with CI, who were able to understand speech in noise had significantly less difficulties compared to constricted CI users. Parents, teachers, and clinicians should be aware that CI users with additionally special needs may have mental health problems. However, peer problems were also experienced by CI adolescents without additional handicaps.
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BACKGROUND: People with aphasia experience a pronounced decrease in quality of life (QoL). Beyond that identity negotiation is hindered, which is crucial for QoL. Biographic-narrative approaches use life story telling to support identity (re)development after disruptive events like stroke. Because of the language deficits inherent in aphasia such 'talk-based' approaches have to be modified for an optimal use. AIMS: To evaluate an adapted interdisciplinary biographic-narrative intervention using quantitative measures of health-related quality of life (HRQL) and mood. Additionally, semi-structured interviews were conducted to gain a deeper understanding of identity development processes in people with aphasia. METHODS & PROCEDURES: Twenty-seven participants with various types of chronic aphasia were enrolled. The biographic narrative intervention consisted of five face-to-face in-depth interviews and seven group sessions conducted over 10 weeks in a mixed-method design with pre- and post-tests and a follow-up assessment 3 months post-intervention. For quantitative evaluation the Aachen Life Quality Inventory (ALQI), the Satisfaction with Life Scale (SWLS) and the Visual Analog Mood Scales (VAMS) were used. Semi-structured interviews were conducted post-treatment, including questions concerning the participants' experiences with the intervention and identity change. Results were analysed using interpretative principles from Grounded Theory. OUTCOMES & RESULTS: For all 27 participants, we found significant and stable growth in HRQL. Self-reported states of mood also improved. As expected, overall cognitively based life satisfaction did not change. The interviews revealed two main categories: 'evaluation of the face-to-face interviews' and 'evaluation of the group sessions'. Further analysis found four overlapping main themes which were identified as identity issues: agency, control, disease concept and doing things. CONCLUSIONS & IMPLICATIONS: Our quantitative and qualitative results demonstrated the benefits associated with the biographic-narrative intervention. The participants' sense of self changed through the approach. The findings provide foundations for future work using biographic narrative interventions to influence QoL and identity renegotiation in people with aphasia.
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Afasia/psicología , Afasia/rehabilitación , Terapia del Lenguaje , Narración , Negociación , Satisfacción del Paciente , Calidad de Vida/psicología , Identificación Social , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular/psicología , Adulto , Anciano , Afasia/diagnóstico , Conducta Cooperativa , Femenino , Alemania , Procesos de Grupo , Humanos , Comunicación Interdisciplinaria , Entrevista Psicológica , Masculino , Persona de Mediana Edad , Accidente Cerebrovascular/diagnósticoRESUMEN
OBJECTIVE: To compare the real-world verbal communication performance of children provided with cochlear implants (CIs) with their peers with hearing aids (HAs). STUDY DESIGN: Cross-sectional study in university tertiary referral centers and at hearing aid dispensers. METHODS: Verbal communication performance was assessed by the Functioning after Pediatric Cochlear Implantation (FAPCI) instrument. The FAPCI was administered to 38 parents of children using CIs and 62 parents of children with HAs. According to the WHO classification, children with HAs were categorized into three groups (mild-moderate-severe hearing loss). Analysis of variance (ANOVA) was performed on the FAPCI scores, with study group, hearing age (i.e., device experience), and age at hearing intervention as sources of variation. RESULTS: ANOVA showed that hearing age and study group significantly contribute to the FAPCI outcome. In all study groups except the children with mild hearing loss, FAPCI scores increased alongside growing experience with the devices. Children with mild hearing loss using HAs showed higher scores than those with severe hearing loss or implanted children. There were no significant differences between the children with CIs and the children with moderate or severe hearing loss using HAs. CONCLUSION: Real-world verbal communication abilities of children with CIs are similar to those of children with moderate-to-severe hearing loss using amplification. Because hearing age significantly influences performance, children with moderate-to-severe hearing loss using HAs and implanted children catch up with children with mild hearing loss at a hearing age of approximately 3 years.
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Implantes Cocleares , Comunicación , Audífonos , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Pérdida Auditiva/cirugía , Pérdida Auditiva/terapia , Humanos , Lactante , Masculino , Desempeño Psicomotor , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
OBJECTIVE: Tonsillar hypertrophy caused by the progressive accumulation of partially degraded glycosaminoglycans (GAGs) within the cells is a typical symptom in patients with mucopolysaccharidoses (MPS). We studied the tissue of adenoids and tonsils of patients suffering from MPS with special regard to characteristic morphological features serving as possible markers for diagnosis. METHODS: Adenoids of 87 patients and tonsils of 4 patients with MPS (2 patients with MPS I, 7 MPS II, 5 MPS IV and 10 MPS VI and 63 controls) and controls were examined. Examinations were repeated in a blinded manner by two pathologists. RESULTS: The key feature observed was a subepithelial "clearing" on scanning magnification, induced by perivascular accumulation of histiocytoid cell forms. Similar agglomerates could sometimes be found at the base of lymphoid follicles. In the blinded assessment a specificity of 92% (100% for adenoids) and a sensitivity of 100% were achieved. The inter-observer-consistency was 92% (100% for adenoids). In tonsillectomy specimens marked subepithelilal fibrosis can lead to a false-negative evaluation. CONCLUSIONS: Qualified histological examination could be an option for early diagnosis of MPS.
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Tonsila Faríngea/patología , Mucopolisacaridosis/patología , Tonsila Palatina/patología , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Hipertrofia/patología , Lactante , Masculino , Mucopolisacaridosis/cirugía , Sensibilidad y EspecificidadRESUMEN
PURPOSE: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. METHODS: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. RESULTS: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic hearing loss and 1.4 in controls. By next-generation sequencing alone, 12 of 23 (52%) probands were diagnosed with monogenic forms of nonsyndromic hearing loss; one individual displayed a DNA sequence mutation together with a microdeletion. Two (9%) probands have Usher syndrome. In the undiagnosed individuals (10/23; 43%) we detected a significant enrichment of potentially pathogenic variants as compared to controls. CONCLUSION: Next-generation sequencing combined with microarrays provides the diagnosis for approximately half of the GJB2 mutation-negative individuals. Usher syndrome was found to be more frequent in the study cohort than anticipated. The conditions in a proportion of individuals with nonsyndromic hearing loss, particularly in the undiagnosed group, may have been caused or modified by an accumulation of unfavorable variants across multiple genes.
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Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Mutación , Análisis de Secuencia de ADN , Adolescente , Adulto , Audiometría , Secuencia de Bases , Niño , Preescolar , Estudios de Cohortes , Conexina 26 , Conexinas/genética , ADN/genética , Sordera/genética , Salud de la Familia , Femenino , Eliminación de Gen , Dosificación de Gen , Predisposición Genética a la Enfermedad , Variación Genética , Homocigoto , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Resultado del Tratamiento , Adulto JovenRESUMEN
The mucopolysaccharidoses are a group of lysosomal disorders characterized by abnormal accumulation of glycosaminoglycans within cell lysosomes leading to a variety of signs and symptoms including alterations in speech and voice production. These changes were analysed in 44 patients with mucopolysaccharidosis (MPS) types I, II, and VI using standardized protocols. Compared to healthy individuals the diadochokinetic rate for the fast repetition of syllables was slower and more irregular, the voice-onset time for the voiceless consonant /p/ was shorter, and most patients had a hoarse voice. The fundamental frequency (F0) of sustained spoken vowels was in the normal range for most women and children with MPS, but adult males with MPS had a higher F0 than healthy men.
Asunto(s)
Mucopolisacaridosis/complicaciones , Acústica del Lenguaje , Trastornos de la Voz/etiología , Calidad de la Voz , Acústica , Adolescente , Adulto , Audiometría de Tonos Puros , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Ronquera/etiología , Ronquera/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Mucopolisacaridosis/diagnóstico , Fonación , Factores Sexuales , Medición de la Producción del Habla , Factores de Tiempo , Trastornos de la Voz/diagnóstico , Trastornos de la Voz/fisiopatología , Adulto JovenRESUMEN
BACKGROUND: We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. METHODS AND RESULTS: Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder. CONCLUSIONS: Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.