Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia.

A female infant born at 38 weeks and 2 days via induced vaginal delivery was admitted to the neonatal intensive care unit for respiratory distress soon after birth. Noted to have aphonia on examination, the patient underwent direct laryngoscopy and was diagnosed with an anterior glottic web and subglottic stenosis. The patient underwent a genetic workup including whole exome sequencing which resulted in a diagnosis of a FREM1-associated disorder. Congenital glottic webs and subglottic stenoses have not been previously described as clinical manifestations of FREM1-associated disorders.

Wavelet packet transform and multilayer perceptron to identify voices with a mild degree of vocal deviation / Transformada Wavelet packet y Perceptrón Multicapa para identificación de voces con grado leve de desvío vocal

Introduction. Laryngeal disorders are characterized by a change in the vibratory pattern of the vocal folds. This disorder may have an organic origin described by anatomical fold modification, or a functional origin caused by vocal abuse or misuse. The most common diagnostic methods are performed by invasive imaging features that cause patient discomfort. In addition, mild voice deviations do not stop the in-dividual from using their voices, which makes it difficult to identify the problem and increases the possibility of complications. Aim. For those reasons, the goal of the present paper was to develop a noninvasive alternative for the identification of voices with a mild degree of vocal deviation ap-plying the Wavelet Packet Transform (WPT) and Multilayer Perceptron (MLP), an Artificial Neural Network (ANN). Methods. A dataset of 74 audio files were used. Shannon energy and entropy mea-sures were extracted using the Daubechies 2 and Symlet 2 families and then the processing step was performed with the MLP ANN. Results. The Symlet 2 family was more efficient in its generalization, obtaining 99.75% and 99.56% accuracy by using Shannon energy and entropy measures, re-spectively. The Daubechies 2 family, however, obtained lower accuracy rates: 91.17% and 70.01%, respectively. Conclusion. The combination of WPT and MLP presented high accuracy for the identification of voices with a mild degree of vocal deviation

ntroducción. Los trastornos laríngeos se caracterizan por un cambio en el patrón vibratorio de los pliegues vocales. Este trastorno puede tener un origen orgánico, descrito como la modificación anatómica de los pliegues vocales, o de origen fun-cional, provocado por abuso o mal uso de la voz. Los métodos de diagnóstico más comunes se realizan mediante procedimientos invasivos que causan malestar al pa-ciente. Además, los desvíos vocales de grado leve no impiden que el individuo utilice la voz, lo que dificulta la identificación del problema y aumenta la posibilidad de complicaciones futuras.Objetivo. Por esas razones, el objetivo de esta investigación es desarrollar una he-rramienta alternativa, no invasiva para la identificación de voces con grado leve de desvío vocal aplicando Transformada Wavelet Packet (WPT) y la red neuronal artifi-cial del tipo Perceptrón Mutlicapa (PMC). Métodos. Fue utilizado un banco de datos con 78 voces. Fueron extraídas las me-didas de energía y entropía de Shannon usando las familias Daubechies 2 y Symlet 2 para después aplicar la red neuronal PMC. Resultados. La familia Symlet 2 fue más eficiente en su generalización, obteniendo un 99.75% y un 99.56% de precisión mediante el uso de medidas de energía y en-tropía de Shannon, respectivamente. La familia Daubechies 2, sin embargo, obtuvo menores índices de precisión: 91.17% y 70.01%, respectivamente. Conclusión. La combinación de WPT y PMC presentó alta precisión para la iden-tificación de voces con grado leve de desvío vocal

Denegación de incapacidad versus ineptitud laboral / Denial of disability versus inability to meet essential job functions

El retorno al trabajo tras una baja médica prolongada comporta una valoración tanto de la capacidad laboral como de la aptitud para el trabajo. Nos encontramos con una trabajadora auxiliar administrativa con lesión congénita en cuerdas vocales, a quien se le deniega la incapacidad permanente total. Es valorada en el reconocimiento médico tras ausencia prolongada resultando apta con limitaciones. Tras la revisión de la evaluación de riesgos de su puesto y de todos los compatibles con su categoría profesional se procede a despido objetivo por ineptitud sobrevenida. La valoración de la capacidad/incapacidad laboral debe ser una valoración multidisciplinar, contemplando de forma integrada el diagnóstico, el tratamiento, la evolución, la perspectiva preventiva y la laboral

The return to work process following a prolonged medical leave includes an assessment of both work capacity and ability to meet essential job functions. We present the case of an administrative assistant with a congenital vocal cord injury who was denied total permanent disability. The initial fitness for duty examination after her prolonged absence resulted in a determination of fitness, but with limitations. After performing a risk assessment and review of the essential job functions of her occupation, she was dismissed based on inability to meet the essential demands of the job. Assessments of work capacity/disability must be multidisciplinary, integrating the diagnosis, treatment, course of the illness, and conducted from both a preventive and work perspective

Dexmedetomidine-assisted drug interviews: an observation in psychiatric setting.

Drug-assisted interviews are an effective tool in the management of various psychiatric illnesses where psychopharmacological, as well as routine psychological interventions, do not prove beneficial. These have most commonly been done by using barbiturates and benzodiazepines that have given favourable results for a long time. However, they carry the risk of respiratory depression and difficulty in maintaining the plane of sedation where the patient is amenable to interviewing. In our experience of drug-assisted interviews with two patients we used intravenous dexmedetomidine, which is being used in anaesthesia practice for conscious sedation or sedation in the intensive care unit. We found dexmedetomidine to be superior to thiopentone in achieving a level of conscious sedation where the patients were amenable for an interview, with no significant adverse events and faster post-anaesthetic recovery.

Impact of syllable stress and phonetic context on the distribution of intermittent aphonia.

The occurrence of intermittent aphonia, perceived as sudden interruptions of voicing in connected speech, often reflects high stiffness of the vocal fold mucosa as part of a voice disorder. This retrospective study aimed to investigate the overarching hypothesis that the aphonic instances in voices with intermittent aphonia are not totally randomly appearing, but related to syllable stress and phonetic context. Recordings of 31 dysphonic patients with intermittent aphonia reading a standard text were analyzed perceptually. All vowels of the text were labelled and categorized with regard to syllable stress and character of the phoneme preceding the vowel. The occurrence of aphonic instances within each syllable category was analyzed. Four different hypotheses were formulated and analyzed by the non-parametric Wilcoxon's signed-ranks test. The results showed a significantly higher occurrence of aphonic instances in unstressed syllables as opposed to stressed, in vowels following an unvoiced phoneme as opposed to a voiced, and in vowels following two or more unvoiced phonemes as opposed to one unvoiced phoneme. No significant difference was found between vowels following aspirated stops [p], [t], [k] as opposed to unaspirated stops [b], [d], [g]. The findings support the theory that both physiological and functional aspects may contribute to the phenomenon of intermittent aphonia.

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

BACKGROUND: Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. METHODS: Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed. RESULTS: Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified. CONCLUSION: These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.

Membrana laríngea congénita / Congenital laryngeal membrane

La membrana laríngea congénita es una malformación infrecuente de las vías aéreas. La clínica que produce depende del grado de obstrucción que produzca en dichas vías. Debe tenerse en consideración al realizar el diagnóstico diferencial de la dificultad respiratoria del recién nacido. El tratamiento dependerá asimismo del grado de obstrucción de la vía respiratoria. Se describe el caso de una lactante de dos semanas de vida que presenta afonía desde el nacimiento y dificultad respiratoria en el curso de infecciones de las vías aéreas superiores. Mediante laringoscopia directa, se realiza el diagnóstico de membrana laríngea congénita. El tratamiento realizado consiste en varias intervenciones de vaporización con láser de dióxido de carbono (AU)

Congenital laryngeal membrane is a rare malformation of the airways. The symptoms depend on the degree of obstruction that triggers in these pathways. It must be taken into consideration in the differential diagnosis of the newborn respiratory distress. The treatment depends on the degree of airway obstruction. We report the case of an infant 2 weeks old with aphonia from birth and respiratory distress with upper airways infections. She is diagnosed of congenital laryngeal membrane by direct laryngoscopy. The treatment is performed with lasser (AU)

[Psychogenic aphonia. A challenging diagnosis?]. / Psychogene Aphonie. Eine schwierige Diagnose?

BACKGROUND: Based on clinical experience in the treatment of psychogenic aphonic patients, the study aimed to analyse the time interval between symptom onset and diagnosis using concrete data and to identify the cause of delayed diagnosis. PATIENTS AND METHODS: The medical records of 14 patients (all female) with psychogenic aphonia first diagnosed at the ENT department of the Saarland University Clinic were evaluated in a retrospective study. RESULTS: The time interval between symptom onset and the diagnosis of psychogenic aphonia ranged from 1 to 32 weeks, with a mean time interval of 9 weeks. In addition to all patients consulting an ENT specialist, additional diagnostic procedures (primarily imaging) were performed in 6 of 14 patients before the correct diagnosis was made. In all, 13 patients had previously undergone some form of therapy, 11 of these receiving antibiotic treatment. CONCLUSIONS: The study confirms that unnecessary instrument-based"over-diagnosis", as well as ineffective treatment attempts lead to significant delays in the diagnosis of psychogenic aphonia and hence delays in the initiation of causal treatment.

Cross-cultural adaption and translation of the voice handicap index into Norwegian.

AIMS: To examine the psychometric properties of a Norwegian translation of the Voice Handicap Index (VHI) and test its ability to discriminate between patients and controls. Abbreviated versions of VHI were also studied. METHOD: Following standard translation, 126 healthy subjects and 126 patients with laryngeal disease answered the Norwegian translation of the VHI-30 [hereafter, VHI-30(N)]. RESULTS: The VHI(N) showed a high Cronbach α. Control/patient scores were as follows: Emotional (E): 0.88/0.90; Functional (F): 0.77/0.91; Physical (P): 0.86/0.83, and total: 0.93/0.94. One three-level question where the subjects rated the level of voice disease correlated well with the VHI(N) scores. The 90th (95th) percentile of the control score was 18 (33), whereas the mean ± SEM patient score was 52.3 ± 2.04 of a maximum of 120 points. Differences between patient and control groups were significant for all questions on the VHI(N). Receiver operating characteristic analyses demonstrate that the F, P, E and total VHI scores discriminated very well between patients and controls. This was also the case when the abbreviated scales were analyzed as published by Nawka et al. [Folia Phoniatr Logop 2009;61:37-48] and Rosen et al. [Laryngoscope 2004;114:1549-1556]. CONCLUSION: This Norwegian version of the VHI questionnaire seems to be psychometrically sound.

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and duplicated halluces. Their facial morphology was unusual: thick eyebrows, ptosis, full eyelashes, long palpebral fissures, downslanting palpebral fissures, small mouth, and low-set, posteriorly rotated ears. This phenotype does not meet the diagnostic criteria of any known entity. Because of parental consanguinity, absence of manifestations in parents, and occurrence in sibs of opposite sex, an autosomal recessive pattern of inheritance is likely.

Brain activity in aphonia after a coughing episode: different brain activity in healthy whispering and pathological aphonic conditions.

A 48-year-old woman visited the authors' clinic because of aphonia. Laryngeal fiberscopic examination indicated laryngitis and bronchitis, and the authors recognized glottal incompetence when she tried to phonate. The authors performed a functional magnetic resonance imaging (f-MRI) study on the patient's first visit to their clinic and a second study 35 days after the first visit (30 days after the bronchitis and coughing had completely resolved). The brain activity shown on f-MRI differed markedly in the ordinary speaking and whispering phonation modes at the second visit. This suggests that whispering and pathological aphonia result from completely different brain activity, at least in this specific patient.

[Hysterical mutism]. / Le mutisme hystérique.

BACKGROUND: Conversion disorders comprise many clinical pictures, including hysterical mutism. Hysterical mutism has emerged as a clinical entity that remains difficult to diagnose, and whose treatment is poorly codified. Hysterical mutism is a disorder of the vocal function without changing the integrity of the body, resulting in loss of voice. Identified at all times, hysterical mutism entered the medical field in the late nineteenth century, under the direction of Jean-Martin Charcot (Salpêtrière School). Since then, although the disorder has emerged as a clinical entity, it remains little known. METHOD: A systematic review of the literature. We performed electronic literatures search of relevant studies using Medline, SUDOC, and BIUM. Search terms used were mutism, functional aphonia, conversion disorder, hysteria. RESULTS: The epidemiology of hysterical mutism is difficult to assess. The first limitation is the lack of consensensual diagnostic criteria. An estimate of its frequency may be advanced through registries consultation of otolaryngology-head and neck surgery. Through a literature review, emerges a rare disorder, about 5% of functional dysphonia. The sex-ratio is in favour of women. Regarding age of onset of disorder, functional aphonia mainly concerns adults with an average around the age of 30-40 years. The onset of the disorder typically involves a sudden onset and a recent stressful event. The duration of the disorder is difficult to specify. It appears that this dysfunction is rapidly reversible and that the majority of patients are in remission of this disorder within three months. The recurrence of dysfunction seems to be frequent. The existence of psychiatric comorbidity did not appear to be the rule. The natural history of this disorder is not known making it tricky to evaluate the efficiency of therapeutic approaches. CONCLUSION: Today the term hysterical mutism does not appear as an entity in either international classification. It belongs to the category of conversion disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR). Identified as a medical entity described by the school of the Salpêtrière, this disorder has raised little interest. The medicalization of the condition remains difficult because of the importance of stigma associated with it, which contributes to the rejection rather than support of patients with mutism. To better understand this disorder and improve the care of patients who suffer, renewed interest is warranted.

Afonia com etiologia desconhecida: relato de caso / Aphonia with unknown etiology: a case report

Introdução: A afonia de conversão é definida como a perda total da voz, é uma doença rara que acomete frequentemente as mulheres. O diagnóstico é clínico, pois não há alterações nas estruturas laríngeas. Objetivo: Descrever um caso de afonia de conversão, atendida em um hospital público no Centro-Oeste do Brasil. Relato do Caso: Paciente de 32 anos, sexo feminino, com queixa de afonia há dois dias, sem outros sintomas aparentes. Os exames não revelaram alterações nas estruturas laríngeas e/ou extralaríngeas. As etapas do atendimento foram descritas desde a consulta inicial até a recuperação da paciente. Comentários Finais: É importante considerar os aspectos psicoemocionais que envolvem os pacientes com alterações vocais, uma vez que os mesmos podem originar ou alterar os sintomas e comprometer o prognóstico da doença.

Introduction: The conversion aphonia is defined as the total loss of voice, is a rare disease that often affects women. The diagnosis is clinical, because there are no changes in the laryngeal structures. Objective: To describe a case of conversion aphonia, seen in a public hospital in the Midwest of Brazil. Case Report: Patient 32 years old female, complaining of hoarseness for two days without other apparent symptoms. The examinations revealed no changes in the laryngeal structures and / or extra laryngeal. Stages of care have been described since the initial consultation to the recovery of the patient. Final Comments: It is important to consider the psycho-emotional aspects involving patients with voice disorders since they may cause or modify the symptoms and affect the prognosis.

Sulcus vocalis in monozygotic twins.

Sulcus vocalis is the presence of a groove extending along the vibratory surface of a vocal fold and may result in dysphonia. Depending on the level of severity, this condition may require treatment involving complicated surgical techniques. Cases of sulcus vocalis are classified as physiological, vergeture, or pouch type. A clear explanation of the etiology has not been established, and the currently proposed congenital origin, as described in the literature, remains controversial. This paper presents findings from monozygotic twin sisters with bilateral sulcus vocalis; these patients had similar morphologies, vibratory characteristics, and vocal quality measurements, which support the theory of a congenital etiology.

Arytenoid adduction to treat impaired adduction of the vocal fold due to rheumatoid arthritis.

Rheumatoid arthritis (RA) is a chronic inflammatory disease affecting the synovial membrane and causing joint damage and bone destruction. The symptoms of cricoarytenoid joint (CJ) arthritis often include hoarseness, and a sense of pharyngeal fullness in the throat. Sometimes, in cases with bilateral CJ involvement, an urgent tracheostomy might be required for acute airway obstruction. In this report, we describe a woman suffering from aphonia due to hampered adduction of the vocal fold which was caused by RA with unilateral CJ involvement. Arytenoid adduction surgery on the affected side was performed. She retrieved a normal voice immediately after the surgery.

[Diagnosis and treatment and prevention of iatrogenic functional aphonia].

OBJECTIVE: To discuss the diagnosis, treatment and prevention of iatrogenic functional aphonia. METHODS: Twenty three patients who either lost their voice or only could whisper after surgery in other hospitals were included in this study as the first group, history was well collected and laryngostroboscopy performed. All cases were confirmed as iatrogenic functional aphonia patients and received phonation therapy. In another group of patients who received vocal cord surgery in our hospital from 2003 to 2005, speaking was restricted while not prohibited after surgery, voice quality was closely observed, and 1028 cases were included. RESULTS: All 23 cases of functional aphonia were cured with phonation therapy. No iatrogenic functional aphonia occurred in the second group of patients. CONCLUSIONS: The iatrogenic functional aphonia can be caused by post operative mistreatment and could be cured with phonation therapy, and it is preventable if speaking is not strictly prohibited after surgery.

[Management and therapy in functional aphonia: analysis of 500 cases]. / Postepowanie i leczenie w afonii psychogennej: analiza 500 przypadków.

INTRODUCTION: The article reviews current opinions on etiopathogenesis and management of functional total loss of the ability to produce loud voice. Psychogenic aphonia refers to involuntary whispering despite a basically normal larynx. MATERIAL AND METHODS: [corrected] The longitudinal study was carried out on 500 patients treated for psychogenic aphonia during 32 years (1972-2004). Of the facilitating techniques, the following were useful for phoniatric therapy: relaxation and respiration, gargle, chewing, pushing, inhalation phonation, masking, phonetic exercises. RESULTS: During the first day of vocal exercises the voice return to 410 patients (82%). The others required carrying on vocal therapy. CONCLUSIONS: The basic importance of phoniatric therapy is recovering the voice during the first day of vocal exercises. Sometimes the aphonic patient profits most from symptomatic voice therapy concurrent with psychotherapy.