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Secondary aphonia significantly affects the quality of life of the laryngectomy patient despite the excellent success of the operation. Vocal rehabilitation often does not achieve the desired results, given the innumerable prognostic variables. Tracheo-oesophageal speech is considered the standard gold method of voice restoration, but a possible spasm of pharyngo-oesophageal segment is the prominent cause of rehabilitation failure. However, the phenomenon is difficult to identify and underestimated, and diagnostic methods are inquisitive or expensive. To propose a phonatory and swallowing evaluation essay of pharynx-oesophageal segment disorders, we conducted a retrospective study from 2012 to 2017 by selecting 6 patients who underwent total laryngectomy and voice prosthesis implantation that suffered from aphonia after surgery. All patients underwent dynamic phonation videofluoroscopy and plexus bath control test with lidocaine hydrochloride. All patients were then referred for treatment with neurotoxin blocker. In all cases, the analysed patients presented an air-trapping phenomenon with the formation of a spasmodic block upstream of an interrupted aerial column. The control test with lidocaine hydrochloride resulted in a transient improvement in speech performance. The neurotoxin block therapy subsequently performed ultimately led to an improvement in the patient's rehabilitation process with a recovery of the phonatory performance. We describe the new use of a barium bolus as a diagnostic tool for identifying neopharynx disorders. Appropriately selected patients with pharynx-oesophageal segment disorders could benefit from a neurotoxin-blocking treatment to improve oesophageal speech.
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Laringe Artificial , Qualidade de Vida , Humanos , Laringectomia , Fonação , Estudos Retrospectivos , Voz EsofágicaRESUMO
Psychogenic Aphonia - Succesfull Multiprofessional Treatment of a 13-Year-Old Girl - A Case Report Psychogenic aphonia is a rather rare disorder with a point prevalence of 0.4 %. It appears more frequently in females than in males. There are only few reports in the scientific literature about children affected by psychogenic aphonia. The diagnostical and therapeutical approach must be multimodal. The case reported here describes a 13 year-old girl with a psychogenic aphonia, the course of her illness und the efforts of treatment until full recovery of voice and speech.
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Afonia , Voz , Adolescente , Afonia/psicologia , Afonia/terapia , Criança , Feminino , Humanos , MasculinoRESUMO
Isolated thyroid rupture and hematoma are rare following blunt neck injury and can lead to airway compromise and the need for emergency management. We report a 23-year-old male patient who presented with neck swelling and aphonia following a road traffic accident. Contrast-enhanced CT scan showed laceration and hematoma involving left thyroid lobe. The patient underwent left hemithyroidectomy and accomplished complete recovery. A high index of suspicion for thyroid rupture must be maintained when patients presented with voice changes or respiratory distress.
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BACKGROUND: There are 215 families of plants that contain insoluble needle-shaped calcium oxalate crystals on the surface of their tissues. Upon mucosal contact, injury can cause extreme pain, soft-tissue swelling, salivation, dysphagia, and even aphonia. This presentation can resemble angioedema or anaphylaxis. CASE REPORT: A 55-year-old Asian female presented to the emergency department complaining of oral pain, swelling, and numbness. Her family reported that she began to experience sharp pain of the tongue and lips immediately after eating "elephant root." Physical examination revealed a patient sitting in an upright position, leaning forward with pooling secretions. She had few lingual petechiae, a subtle diffuse erythema, and mild edema of the lower lip. Due to pain, she was unable to speak and swallow. Her vitals remained within normal limits. The patient was taking lisinopril for hypertension. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Injury by calcium oxalate crystals is a relatively common occurrence that will present to the emergency department. Although most exposures are benign, patients can develop critical illness, requiring emergent therapies and airway management. Due to the nature of presentation, exposure can easily be misdiagnosed as anaphylaxis or hereditary and drug-induced angioedema. Severe pain and the temporal relationship to plant ingestion distinguish insoluble calcium oxalate crystal exposure from these alternative causes of angioedema. There is minimal evidence-based data evaluating treatment of these injuries. Standard treatment regimen includes a local anesthetic, corticosteroids, opioids, and antihistaminergic agents. Given the relative low cost, ease of administration, and benign adverse effect profile, sodium bicarbonate rinse may have a role as an adjunct therapy, however, research is needed.
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Oxalato de Cálcio/intoxicação , Doenças Transmitidas por Alimentos/diagnóstico , Mucosa Bucal/lesões , Anafilaxia/diagnóstico , Angioedema/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
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.
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Afonia/diagnóstico , Fonética , Acústica da Fala , Medida da Produção da Fala , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatística como AssuntoRESUMO
OBJECTIVE: The main purpose of this study was to retrospectively evaluate the efficiency of DoctorVox voice therapy in psychogenic dysphonia or aphonia patients, and to share the mid- to long-term results of the method. METHODS: The study was carried out on patients who underwent DoctorVox voice therapy for psychogenic dysphonia or aphonia between January 2015 and September 2019. The evaluation methods used were: the Voice Handicap Index-10; the grade, roughness, breathiness, asthenia and strain ('GRBAS') scale; and videolaryngostroboscopy recordings. RESULTS: The mean Voice Handicap Index-10 values of the patients were 30.91 ± 2.97 before treatment, 8.14 ± 3.82 after treatment, and 3.36 ± 1.78 in the final follow-up examination. The grade, roughness, breathiness, asthenia and strain scale scores were: 9 ± 0.67 pre-treatment, 0.78 ± 0.80 post-treatment, and 0.57 ± 0.64 at the final follow up. CONCLUSION: DoctorVox voice therapy seems to be an efficient treatment method for psychogenic dysphonia or aphonia; it helps develop phonatory muscle functions, using multidimensional biofeedback mechanisms, and increases the patients' therapy adherence.
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Disfonia , Humanos , Disfonia/diagnóstico , Afonia , Estudos Retrospectivos , Astenia , Qualidade da VozRESUMO
We describe an unusual case of post-operative conversion aphonia in a pediatric patient. It indicates the importance of discussing its presentation, and amplifies the need for emotional support in the immediate post-operative period for young patients with heightened anxiety. Laryngoscope, 133:1737-1738, 2023.
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Afonia , Transtorno Conversivo , Humanos , Criança , Transtorno Conversivo/complicações , Transtorno Conversivo/psicologia , Transtornos de Ansiedade/complicaçõesRESUMO
Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management strategies range from endoscopic division using cold instruments to open surgery for severe webbing. In endoscopic surgery, the need for tubeless anesthesia and spontaneous breathing is fundamental for obtaining the best surgical outcome. Here, we describe the case of a 4-month-old female patient affected by a type II glottic web according to Cohen, who was treated by simple endoscopic division in spontaneous breathing.
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Anestesia , Procedimentos de Cirurgia Plástica , Humanos , Lactente , Feminino , Prega Vocal/cirurgia , Endoscopia , Glote/anormalidades , Glote/cirurgiaRESUMO
A 33-year-old woman admitted to our hospital for further examination of severe non-productive cough lasting for about two months. Her symptom did not ameliorate by treatments including long acting ß2 agonists. She had a medical history of drug allergy to non-steroidal anti-inflammatory drugs. At the initial visit, she could not speak at all and communicated with us in writing. Chest auscultation revealed no wheezes, rhonchi and other crackles. Laboratory findings showed a mild eosinophilia with normal total and specific serum immunoglobulin E. The results of an electrocardiogram, a chest X-ray and a chest CT were unremarkable. A fractional exhaled nitric oxide value was within normal limit. Based on these observations, a diagnosis of atopic cough (AC) was suspected, and we started treatment with a histamine H1 receptor antagonist (H1-RA). She had become able to speak again in association with complete disappearance of cough by eight-weeks after treatment initiation, and her symptoms did not recur even after cessation of treatment. By the confirmation of remarkable clinical improvement in response to a H1-RA, a diagnosis of AC was made. To the best of our knowledge, this is the first report of an AC patient who presented severe cough with aphonia. J. Med. Invest. 70 : 281-284, February, 2023.
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Tosse , Antagonistas dos Receptores Histamínicos H1 , Adulto , Feminino , Humanos , Afonia/complicações , Afonia/tratamento farmacológico , Tosse/tratamento farmacológico , Tosse/etiologia , Antagonistas dos Receptores Histamínicos H1/uso terapêuticoRESUMO
Subarachnoid block with local anesthetic agents is a well-established anesthesia technique among pregnant females for labor analgesia and cesarian delivery. Although it is considered a reliable and safe technique for both mothers and fetuses, unexpected high or low levels of block may occur due to accidental injection of these agents into different meningeal spaces other than intended. Hypotension, bradycardia, headache, and failed anesthesia are common complications of spinal anesthesia. Though rare, neurological complications like aphonia, dysphagia, and tingling sensation have also been reported. The article reports a case of a 22-year-old primigravida who sustained transient aphonia following intrathecal administration of bupivacaine for an emergency cesarian section for meconium-stained liquor with fetal distress. There were no other neurological manifestations or features suggestive of high spinal block. The sensory level of the block was fixed to T6 with hemodynamic stability throughout aphasia with an episode of hypotension preceding aphonia. Aphonia commenced 9 min after the spinal anesthesia continued for a total duration of 15 min. Neurological examination, relevant investigations, and consultations were done to make a diagnosis. Thus, it is important to be aware of the possible neurological complications associated with spinal anesthesia.
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Complete subglottic stenosis is often managed with surgical resection. However, involvement of the high subglottis can limit candidacy for open resection, and there are few treatment options for these patients. We refined an endoscopic approach that evolved into a tracheal rendezvous technique with T-tube placement as an alternative to open surgical resection. Here, we present our series, technique, and outcomes. A retrospective review was performed to identify patients who underwent endoscopic management of complete high subglottic stenosis at the University of California San Diego. The surgical technique was initially a two-step staged procedure and was subsequently revised to a single-stage procedure with stenosis ablation, dilation, and insertion of a T-tube, which was completed in one day. Patients were seen at regular follow-up intervals for reassessment. Five patients were identified with complete stenosis not amenable to surgical resection. The average age of the cohort was 44.8 years. The etiology of stenosis in all patients was related to prolonged intubation and tracheostomy, and the average length of stenosis was 19.6 mm. Stenosis resection was accomplished via laser ablation and balloon dilation, and the average T-tube length was 50.3 mm. All patients were discharged on postoperative day one. Two patients developed airway crusting within the T-tube and required emergency department visits. Decannulation was attempted in three patients, although failed in two. Tracheal rendezvous is a safe and effective procedure for patients with grade IV subglottic stenosis. This provides a feasible endoscopic alternative to patients who are not candidates for open surgical resection, ye are motivated to have phonatory capacity.
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OBJECTIVE: In order to correct the varying vocal fold positions to meet the various clinical requirements in patients with bilateral vocal fold immobility, we present pertinent surgical methods to treat them. MATERIALS AND METHODS: From 2005 to 2020, 115 patients diagnosed with bilateral vocal fold immobility were addressed for ventilation in 89 patients and for phonation in 26 patients. In the ventilation surgery group, all the neurogenic subjects received mere suture lateralization (SL) procedures and the mechanical ones underwent arytenoid release (AR) plus SL procedures if the cricoarytenoid joint fixation (CAJF) could be confirmed before operation. In the phonation group, neurogenic subjects received nonsurgical treatment and the mechanical ones underwent AR plus arytenoid adduction (AA) procedure. The decannulation rate and respiratory comfort rate for each subgroup will be calculated and the phonatory tests were conducted. RESULTS: In the ventilation group, 55% (49/89) of subjects received related surgeries. Mere SL offered 40 successful decannulation or respiratory comfort in 42 neurogenic subjects (95.2%). The single episode rate was high as 95%. An AR plus SL procedure also obtained 100% of decannulation or respiratory comfort with a single episode of surgical procedure if the CAJF could be confirmed preoperatively. In the phonation group, 15% (4/26) of subjects received appropriate surgeries. Single AR plus AA procedures also led to 100% (4/4) of the appropriate candidates serviceable sound. CONCLUSION: SL procedure keeping intact laryngeal mucosa usually offered permanent glottis enlarging effect or decannulation with a single episode of procedure. The use of arytenoid release for CAJF has led to remarkable advances in the ultimate surgical outcomes of both the ventilation and phonation in terms of decreasing revision surgeries. LEVELS OF EVIDENCE: level 4.
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Doenças da Laringe , Paralisia das Pregas Vocais , Humanos , Prega Vocal/cirurgia , Paralisia das Pregas Vocais/diagnóstico , Paralisia das Pregas Vocais/cirurgia , Glote , Fonação , Cartilagem Aritenoide/cirurgiaRESUMO
OBJECTIVE: Surgical procedures that render patients acutely aphonic can cause them to experience significant anxiety and distress. We queried patient perceptions after tracheostomy or laryngectomy and investigated whether introducing augmentative technology was associated with improvement in patient-reported outcomes. METHODS: Participants included hospitalized patients who acutely lost the ability to speak due to tracheostomy or total laryngectomy from April 2018 to December 2019. We distributed questions regarding the patient communication experience and relevant questions from the validated V-RQOL questionnaire (Voice-Related Quality of Life). Patients were offered a tablet with the electronic communication application Verbally. Pre- and postintervention groups were compared with chi-square analyses. RESULTS: Surveys were completed by 35 patients (n = 18, preintervention; n = 17, postintervention). Prior to using augmentative technology, 89% of patients who were aphonic reported difficulty communicating, specifically noting breathing or suctioning (56%), treatment and discharge plans (78%), or immediate needs, such as pain and using the bathroom (39%). Communication difficulties caused anxiety (55%), depression (44%), or frustration (62%), and 92% of patients were interested in using an electronic communication device. Patients reported less trouble communicating after the intervention versus before (53% vs 89%, P = .03), including less difficulty communicating about treatment or discharge plans (35% vs 78%, P < .01). V-RQOL scores were unchanged. DISCUSSION: Acute loss of phonation arising from surgery can be highly distressing for patients, and use of augmentative technology may alleviate some of these challenges by improving communication. Further studies are needed to identify what additional strategies may improve overall well-being. IMPLICATIONS FOR PRACTICE: Electronic communication devices may benefit patients with acute aphonia.
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Laringectomia , Qualidade de Vida , Humanos , Laringectomia/efeitos adversos , Traqueostomia/efeitos adversos , Qualidade da Voz , Comunicação , TecnologiaRESUMO
A non-recurrent laryngeal nerve (NRLN) is a common anatomical modification with an occurrence rate ranging from 0.5% to 0.7% in surgical procedures related to thyroid pathology [1]. In this condition cervical vagus nerve reaches the larynx directly, increasing the likelihood of vocal cord palsy. Non-RLN injury can be reduced by anticipating it and identifying it early. This case report describes how a non-recurrent inferior laryngeal nerve was discovered intraoperatively during systemic dissection, averting intra-operative nerve injury. A 40-year-old female reported to the department of Otorhinolaryngology and Head and Neck Surgery Outpatient Clinic for a nodular tumor in her neck that has been increasing for the previous five years. The colloid multi-nodular thyroid of the right lobe was confirmed by a fine needle aspiration cytology (FNAC). The patient was lined up for a surgical procedure requiring resection of the right lobe of the thyroid. A non-recurrent right inferior laryngeal nerve was discovered during surgery. The operation and recovery went smoothly, and there was no change in his voice in subsequent follow-ups. For those who are related to this professional line, this presentation provides a summary of what a non-recurrent laryngeal nerve looks like during surgery. This is critical for anyone undergoing diagnostic and surgical procedures which demand to be invasive in the region involving the neck and upper thorax, as it lowers the risk of iatrogenic nerve injury. A solitary trauma of this nerve can induce irreversible hoarseness, whereas a multilateral lesion might result in aphonia and potentially deadly dysphonia.
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INTRODUCTION AND IMPORTANCE: Conversion aphonia is a rare disease characterized by total loss of voice. It is more commonly reported in females than males, and its diagnosis is based on a comprehensive patient's clinical history, and assessment of vocal cords and other laryngeal structures using Fiberoptic laryngoscopy. Early diagnosis and phonation have a significant role in the treatment. CASE PRESENTATION: A 12-year-old medically free male patient with unremarkable medical history and normal physical, social, cognitive and emotional developmental milestones presented to the otorhinolaryngology clinic with a sudden loss of voice for a duration of 3 days with absence of other associated symptoms. A comprehensive clinical history and general examination were within normal limits, and fiberoptic laryngoscopy revealed a normal-looking laryngeal structure with intact bilateral mobile vocal cords. A diagnosis of psychogenic aphonia was the most likely cause, so speech therapy concurrent with psychotherapy was the mainstay of treatment. Improvement of the patient condition noticed and he restored his speech 4 weeks after initiation of his treatment. CLINICAL DISCUSSION: Psychogenic Aphonia is rare disorder with female predominance and younger age onset when it is compared to males. It is also known as functional neurological symptom disorder (FND) as it is not explained by underlying medical or neurological factors. It is often preceded by psychological trauma or stressors. Diagnosis of Psychogenic Aphonia is challenging and it is often missed and delayed. Accordingly, the delay in diagnosis may significantly affect the ultimate outcome for affected patients. Speech therapy concurrent with psychotherapy represents the mainstay of treatment. CONCLUSION: Being rare disorder, early recognition and diagnosis of conversion disorder with aphonia is crucial. Applying diagnostic criteria which is introduced by American Psychiatric Association in The Diagnostic and Statistical Manual of Mental Disorders (DSM) facilitate the diagnosis. Multidisciplinary approach in management of affected patients ensures better outcome.
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Even though the absence of the body prevents sure conclusions, the death of Alexander the Great remains a hot topic of retrospective diagnosis. Due to the serious mishandling of ancient sources, the scientific literature had Alexander dying of every possible natural cause. In previous works, the hypothesis that typhoid fever killed Alexander was proposed, based on the presence of the remittent fever typical of this disease in the narrations of Plutarch and Arrian. Here we provide additional evidence for the presence of stupor, the second distinctive symptom of typhoid fever. In fact, based on the authority of Caelius Aurelianus and Galen, we demonstrate that the word á¼φωνος, used to describe the last moments of Alexander, is a technical word of the lexicon of the pathology of Hippocrates. Used by him, the word defines a group of diseases sharing a serious depression of consciousness and motility. The association of stupor with the remittent fever strengthens the typhoid fever hypothesis.
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Afonia/história , Mundo Grego/história , Estupor/história , Febre Tifoide/história , Pessoas Famosas , História Antiga , Malária/classificação , Malária/históriaRESUMO
IMPORTANCE: Prior studies have evaluated various populations at increased risk of voice impairment. However, minimal data is available for military Drill Instructors, a population known to have significant vocal demands. OBJECTIVE: The purpose of this study was to determine the prevalence of subjective, perceptual, and objective dysphonia in this population and to evaluate contributing factors and impact on job performance. DESIGN: Cross-sectional analysis. SETTING: United States Marine Corps base (Marine Corps Recruit Depot, San Diego, California). PARTICIPANTS: Active US Marine Corps Drill Instructors. INTERVENTIONS: A survey was administered investigating subjective measures of dysphonia and its impact on occupational function. Standardized voice samples were recorded for objective and perceptual voice analysis. MAIN OUTCOMES AND MEASURES: Prevalence of subjective (Voice Handicap Index-10 and Glottal Function Index scores), perceptual (CAPE-V score), and acoustic (Cepstral-spectral index of dysphonia) measures of dysphonia. RESULTS: Subjective dysphonia was present in 47.7% by the Voice Handicap Index-10 and 70.2% by the Glottal Function Index. 51% of subjects reported periods of aphonia, while 47% reported voice problems limiting job function in the month prior to being surveyed. The Cepstral-Spectral Index of Dysphonia Mean was abnormal in 95.3% and CAPE-V overall severity score was abnormal in 94%. There was significant improvement in subjective, perceptual, and acoustic voice outcomes as the amount of time since last training cycle (ie, relative voice rest) and as experience as a Drill Instructor increased, however the VHI-10 was the only measure that normalized. CONCLUSION AND RELEVANCE: There is a very high prevalence of self-reported dysphonia in Drill Instructors, with near-universal prevalence of some degree of objectively and perceptually-rated dysphonia. Nearly half of those surveyed reported that dysphonia limited their job performance. Relative voice rest and experience seem to mitigate severity, but normal ratings were rare. While objective and perceptually-rated dysphonia are persistent and highly prevalent, it does not necessarily translate into a perceived impairment in this population. For these reasons and considering the importance of extraordinary vocal function in this occupation, Drill Instructors appear to be in dire need of proper voice care to both maximize job performance and mitigate long-term voice-related problems.
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Disfonia , Militares , Estudos Transversais , Disfonia/diagnóstico , Disfonia/epidemiologia , Humanos , Prevalência , Índice de Gravidade de Doença , Acústica da Fala , Qualidade da VozRESUMO
OBJECTIVES: The aim of this study was to define the clinical features of psychogenic voice disorder (PVD) and explore the treatment efficiency of voice therapy and psychological evaluation. METHOD: Fifty-eight patients who received treatment following the PVD diagnosis and had no organic or other functional voice disorders were assessed retrospectively based on laryngoscopic examinations and subjective and objective assessments. Epidemiological characteristics, accompanying organic and psychological disorders, preferred methods of treatment, and previous treatment outcomes were examined for each patient. A comparison was made based on voice disorders and responses to treatment between patients who received psychotherapy and patients who did not. RESULTS: Participants in this study comprised 58 patients, 10 male and 48 female. Voice therapy was applied in all patients, 54 (93.1%) of whom had improvement in their voice. Although all patients were advised to undergo psychological assessment, only 60.3% (35/58) of them underwent psychological assessment. No statistically significant difference was found between patients who did receive psychological support concerning their treatment responses and patients who did not. Relapse occurred in 14.7% (5/34) of the patients who applied for psychological assessment and in 50% (10/20) of those who did not. There was a statistically significant difference in relapse rates, which was higher among patients who did not receive psychological support (P < 0.005). CONCLUSION: Voice therapy is an efficient treatment method for PVD. However, in the long-term follow-up, relapse of the disease is observed to be higher among patients who failed to follow up on the recommendation for psychological assessment.
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Transtorno Conversivo/terapia , Testes Psicológicos , Distúrbios da Voz/terapia , Qualidade da Voz , Treinamento da Voz , Adolescente , Adulto , Idoso , Transtorno Conversivo/diagnóstico , Transtorno Conversivo/fisiopatologia , Transtorno Conversivo/psicologia , Diagnóstico Diferencial , Emoções , Feminino , Humanos , Laringoscopia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Recidiva , Estudos Retrospectivos , Estroboscopia , Fatores de Tempo , Resultado do Tratamento , Gravação em Vídeo , Distúrbios da Voz/diagnóstico , Distúrbios da Voz/fisiopatologia , Distúrbios da Voz/psicologia , Adulto JovemRESUMO
The source of the human voice is obscured from view. The development of the laryngoscope in the late 1850s provided the potential to see the action of the vocal folds during speaking for the first time. This new instrument materially contributed to the understanding of vocal fold neuroanatomy, neurophysiology, and neuropathology. The laryngoscope led to elaborated understanding of disorders that previously were determined by changes in sound. The objective of this paper is to detail the consequences of this novel visualization of the larynx, and to trace how it aided in the development of understanding of the movements of the vocal folds. This is demonstrated through an examination of the activities and practices of a group of London clinicians in the second half of the nineteenth century.
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Laringoscópios/história , Laringe/diagnóstico por imagem , Laringe/fisiologia , Neuroanatomia/história , Neuropatologia/história , Neurofisiologia/história , Prega Vocal/diagnóstico por imagem , Prega Vocal/fisiologia , História do Século XIX , Humanos , Neuroanatomia/instrumentação , Neuropatologia/instrumentação , Neurofisiologia/instrumentação , Reino UnidoRESUMO
Worster-Drought syndrome is a congenital, pseudobulbar paresis. There is no identified molecular etiology despite familial cases reported. The authors report a boy who was diagnosed with Worster-Drought syndrome due to longstanding drooling, dysphagia, and impaired tongue movement. Magnetic resonance imaging of the brain was unrevealing. At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. Results from neuropsychological testing at 14 years old were consistent with a diagnosis of intellectual disability and revealed nonverbal reasoning skills at a 5-year-old level with relative sparing of his receptive vocabulary and visual attention. Compared to prior testing at 9 years old, his receptive language improved from a 6-year-old to an 8.5-year-old level. The authors report LINS mutations associated with Worster-Drought syndrome. This highlights that despite severe and persistent aphonia, receptive language improvements can be observed within the context of intellectual disability.