Articles de revues sur le sujet « Vocal folds/abnormalities »

AbstractFew studies have described laryngological evaluation of patients with amyotrophic lateral sclerosis. We assessed the laryngological abnormalities of 35 such patients (24 bulbar onset and 11 limb onset). In nine limb onset patients, we discovered signs of early vagal nerve dysfunction, prior to any clinical presentation of bulbar failure. However, in all bulbar onset patients studied, we noticed changes in the uni/bilateral position of the vocal folds and in the voice quality.

Three-dimensional reconstruction of medical images has emerged as an important visualization tool for studying complex anatomy. These tools have found important applications in neurology and plastic surgery using computed tomography (CT) and magnetic resonance imaging (MRI) data. However, CT and MRI do not sufficiently delineate lesions of the pediatric airway. Inspection through the rod lens telescope remains the standard diagnostic method. A video recording of an endoscopic procedure is essentially a sequence of two-dimensional images captured as the telescope traverses the airway lumen. Using digitized endoscopic video recordings and computer graphics reconstruction techniques, we have developed a preliminary three-dimensional modeling system for the pediatric airway. A series of normal and abnormal telescopic airway examinations were video recorded. Serial sections were obtained by digitizing the video images at uniform intervals as the scope traversed the airway lumen between the vocal folds and the carina. The digitized images were calibrated and used to reconstruct the airway lumen in three dimensions. Classifying airway abnormalities according to the minimal cross-sectional area or with descriptive terms can be subjective and dependent on the endoscopist's observational skills. We hope that this preliminary work will lead to more precise and understandable methods for representing complex airway lesions.

Introduction: Benign vocal fold lesions reduce the efficiency of sound production. Reports of dysphonia cases caused by vocal principles in Indonesia are still very limited. This study aimed to determine incidence and prevalence of benign vocal fold lesions, namely vocal cord nodules, cysts, and polyps.Methods: A descriptive retrospective study was conducted using patient’s medical record of Ear, Nose, and Throat (ENT) Outpatient Unit. Dysphonia patients with benign vocal cord abnormalities were identified. The data analyzed using descriptive analytic.Results: There were 20 patients with benign vocal fold lesions, consisting of 13 patients (65%) with nodules, 3 patients (15%) with polyps, and 4 patients (20%) with cysts. The ratio of male and female patients was 1: 1. Most patients belonged to age group of 20-59 years (12 patients; 60%). In term of occupation, most patients belonged to group III, which is a group of workers who are not professional voice users (12 patients; 60%). Most vocal fold lesions were found in the 1/3 of bilateral anterior (17 patients; 85%). Most therapy was non-operative in 13 patients (65%). Conclusion: Benign vocal fold lesions, including vocal cord nodules, polyps, and cysts, are found in all patients with dysphonic complaints. The prevalence of dysphonia symptoms is quite high every year, but only a small portion are diagnosed with benign vocal cord lesion.

Laryngologists have long recognized that assessment of the mucosal wave is an important part of laryngeal evaluation. This is the first report of a noninvasive measurement of vocal fold displacement velocity in an in vivo canine model. a newly developed calibrating endoscopic instrument capable of measuring distances on the vocal fold surface is described. Displacement velocity was determined in three dogs and compared to physiologic measures in the in vivo phonation model. The results indicate that the calculated displacement velocity is linearly proportional to traveling wave velocity and fundamental frequency. Because traveling wave velocity has been shown to reflect vocal fold stiffness, this method may advance the usefulness of stroboscopy for the study of mucosal wave abnormalities.

Telescopic laryngoscopic examination was performed at the bedside after extubation in 29 consecutive surgical intensive care unit patients who required endotracheal intubation for more than 16 hours. The examinations were documented with a portable video recording system. The majority of patients exhibited evidence of acute endolaryngeal trauma. Vocal fold ulceration and vocal fold motion abnormalities were the most common lesions. Patients with abnormal larynges were followed up after discharge from the intensive care unit. Most of the identified injuries resolved without intervention. However, silent aspiration was identified frequently in patients with vocal fold paresis and was thought to be a significant factor in postoperative pulmonary complications. Early identification of significant laryngeal trauma and/or vocal fold paresis in critically ill patients is important for both postoperative pulmonary care and voice rehabilitation. This pilot study demonstrated that documentation of the laryngeal examination is feasible in critically ill patients in an intensive care unit setting.

Laryngeal web is a rare entity, constituting 5% of all congenital laryngeal lesions, with a reported incidence of 1 in 10,000.1 It usually presents with stridor in childhood, but can be discovered in asymptomatic adults under anesthesia and is associated with failed intubations.2 We present the case of a newborn with stridor and respiratory distress due to laryngeal web. CASE REPORT A 47-day-old boy was referred to our institution for stridor. He was spontaneously born term at 40 3/7 weeks gestational age to a 26-year-old G2P2 (2002). Birth weight was 3104 grams and maturity testing at 39 weeks was appropriate for gestational age. Prenatal and perinatal history was unremarkable. Upon delivery with an initial Apgar score of 5 becoming 6, inspiratory stridor and impending respiratory failure prompted intubation. Post-intubation chest x-ray revealed minimal lung disease and the baby was extubated after 24 hours. Six hours after extubation, stridor was noted again and the baby was reintubated. A chest x-ray showed atelectasis and the baby was managed as a case of pulmonary hypertension. He was weaned from ventilatory support and continuous positive airway pressure (CPAP) was commenced on day 15. Lavage feeding was started on day 18 and 7-day empiric antibiotics were completed. However, stridor and respiratory distress persisted, and the baby was reintubated and recommitted to a mechanical ventilator. Laryngomalacia was suspected, a tracheostomy was recommended and the baby was referred to our institution for further work-up and management. Our admitting impression was a term baby boy with pneumonia, and laryngomalacia versus tracheomalacia. Upon arrival at our institution, chest x-ray showed hazy and reticular opacities at the posterobasal segment of both lower lung lobes, more on the right, and interpreted as bilateral pneumonia. Ampicillin and Cefotaxime were started, and gram stain, culture and sensitivity of endotracheal secretions resulted in moderate growth of S. marscescens and light growth of K. pneumonia, both resistant to Ampicillin. Antibiotics were shifted to Gentamycin and Ceftazidime, given for 10 days. During this time, the baby was also exhibiting myoclonic upper extremity movements but was subsequently cleared for seizures or other structural brain pathology by Neurology. Our plan for airway evaluation was initial flexible endoscopy followed by bronchoscopy if extubation was tolerated. The possibility of a tracheostomy was considered if extubation would not be tolerated. Flexible endoscopy revealed patent nasal airways with no demonstrable nasal obstruction or structural abnormalities. The endotracheal and orogastric tubes were visualized entering the trachea and esophagus respectively. (Figure 1) There was pooling of secretions in the hypopharyngeal area, but no visible masses or lesions. After extubation, a soft tissue band was visualized traversing the right and left true vocal cords posteriorly, consistent with an interarytenoid web. (Figure 2) A space between this band and the interarytenoid area corresponded to the site where the ET tube had passed. The arytenoid mucosa also appeared swollen and edematous. The epiglottis was normal. There was vocal fold motion with incomplete glottic closure, but the full extent of glottic opening and closing could not be assessed due to the band. Because of decreasing oxygenation and episodes of desaturation, the baby was reintubated and a tracheostomy was performed. The baby was weaned off the ventilator a week later, and transferred out of intensive care to a regular room where he tolerated room air. Clotrimazole that had been given for light growth of S. maltophilia obtained intraoperatively was shifted to Levofloxacin and the last dose was given after 7 days. His postoperative course was unremarkable, and he was discharged with a tracheostomy and nasogastric tube, with suck and swallow therapy for eventual oral feeding. Regular monitoring and routine tracheotomy care with periodic tube changes and endoscopic surveillance of the web and signs of reflux are scheduled. DISCUSSION The most likely conditions for stridor presenting at birth are congenital structural anomalies like laryngomalacia (60%), vocal cord paralysis (15-20%), congenital subglottic stenosis (15%), laryngeal web (5%), or subglottic hematoma (1.5%).1,2,3 The larynx develops from the endodermal lining and the adjacent mesenchyme of the foregut between the fourth and sixth branchial arches. The arytenoid swelling is formed at the cranial end of the laryngotracheal tube by the proliferation of the mesenchymal tissue (derived from neural crest cells). It grows towards the tongue and forms the primordial glottis. As it grows further, it changes the primordial glottis into a T-shaped laryngeal inlet.4 Congenital laryngeal webs are uncommon, constituting 5% of all congenital laryngeal lesions; their incidence has been estimated at approximately 1 in 10,000 births.4 They are due to incomplete recanalization of the laryngotracheal tube during the third month of gestation, leading to different degrees of laryngeal webs. The most common site of development is at the level of the vocal folds anteriorly, although they may occur in the posterior interarytenoid or in the subglottic or supraglottic area.5 Diagnosis may be made via flexible or rigid laryngoscopy, or airway films if subglottic or cricoid pathology is present.4 Most congenital webs present at birth or in the first few months of life. Symptoms range from mild dysphonia to significant airway obstruction, depending on the size of the web. Hoarseness, croup, and dysphagia are some other symptoms. A third of children with laryngeal webs have anomalies of the respiratory tract, most commonly subglottic stenosis. When congenital in origin, this may be associated with various syndromes like Di-George syndrome, velocardiofacial (Shprintzen) syndrome, conotruncal anomaly face syndrome.6,7 Laryngeal webs may be classified according to airway obstruction. A T1 web is uniform in thickness with no subglottic extension, has true vocal cords clearly visible in the web, usually has no airway obstruction, and hoarseness as the only usual presenting sign. A T2 web is slightly thicker, with a significantly thicker anterior component, and may have minimal subglottic involvement, and a usually husky voice. A T3 web is thick with a solid anterior portion that extends into the subglottis, the true vocal cords are not well delineated, and there is marked vocal dysfunction, with a weak and whispery voice. A T4 web is uniformly thick and extends into the subglottic area with resulting subglottic stenosis. Respiratory obstruction is severe, and the patient is almost always aphonic.4,7 Webs may also be classified according to location, whether anterior, posterior (interarytenoid), subglottic, or supraglottc.4 Our patient had a type 1, interarytenoid laryngeal web. About 75-90% of laryngeal webs are located anteriorly and extend toward the arytenoids. Occasionally, a minor web will not be diagnosed until the child is older and undergoes evaluation for chronic hoarseness.1 It may vary in thickness, and the boundary is the vocal process.5 Posterior webs may present with apparent bilateral vocal cord paralysis, especially if an interarytenoid web in the posterior larynx limits vocal fold abduction. This type of congenital web is rare and often necessitates a tracheotomy in the early years of life. Stridor is the major presenting clinical feature (as in our case), but patients can also present with obstructive cyanosis at birth or episodes of apnea.2 Asymptomatic patients do not require treatment. Treatment depends on the severity of airway obstruction, and may be single or multi-staged. If a patient presents with difficulty breathing, the airway must first be secured. This can be done through endotracheal intubation, which can be converted into a tracheostomy if prolonged intubation is expected.6 Long-term tracheotomy with observation for eventual decannulation after 3 to 5 years may be practiced. Surgical division can be achieved using laryngeal knives, microscissors, galvanocautery or radiofrequency. However, these are frequently unsuccessful as vocal cords re-adhere in the area where the web was separated.4,8 Surgical correction results in two opposing surfaces with denuded epithelium that tend to heal together and reform a web. To prevent re-adhesion, a keel, stent or probe may be positioned between the two raw edges. Steroid injections or mitomycin may also diminish re-adhesion.2 Extensive webs often require arytenoidectomy or even open laryngeal reconstruction to correct subglottic stenosis. This can be done with a costal graft, a posterior cricoid split, or a T-tube.9 Given that our patient has a type 1 laryngeal web with a thin band, some may suggest that we observe the patient for 3-5 years in the hope that it might be outgrown.3 Others would divide or excise the web.3,4 However, the course of healing in our pediatric patient may be different compared to adults. If we perform outright division, there could be a higher risk of re-adhesion. Moreover, the presence of reflux (swollen arytenoids) may hasten the recurrence of the web or contribute to development of another laryngeal pathology like laryngomalacia.3 We are not aware of any definite treatment protocol that applies to our patient. As such, our current plan is serial monitoring to determine when he will be a good candidate for surgery. At the very least, we want to see a resolution of signs of reflux that may increase the risk of recurrence post surgery. We have yet to determine our final plan for surgical intervention and the optimal timing for it, and are open to receiving your comments.

Although many quantitative parameters have been devised to describe abnormalities in vocal fold vibration, little is known about the priority of these parameters. We conducted a prospective study using high-speed digital imaging to elucidate disease-specific key parameters (KPs) to characterize the vocal fold vibrations of individual voice disorders. From 304 patients with various voice disorders and 46 normal speakers, high-speed digital imaging of a sustained phonation at a comfortable pitch and loudness was recorded and parameters from visual-perceptual rating, laryngotopography, digital kymography, and glottal area waveform were calculated. Multivariate analysis was then applied to these parameters to elucidate the KPs to explain each voice disorder in comparison to normal subjects. Four key parameters were statistically significant for all laryngeal diseases. However, the coefficient of determination (R2) was very low (0.29). Vocal fold paralysis (8 KPs, R2 = 0.76), sulcus vocalis (4 KPs, R2 = 0.74), vocal fold scarring (1 KP, R2 = 0.68), vocal fold atrophy (6 KPs, R2 = 0.53), and laryngeal cancer (1 KP, R2 = 0.52) showed moderate-to-high R2 values. The results identified different KPs for each voice disorder; thus, disease-specific analysis is a reasonable approach.

Objectives: To evaluate the precise objective fluoroscopic abnormalities in persons with dysphagia following anterior cervical spine surgery (ACSS). Methods: 129 patients with dysphagia after ACSS were age and sex matched to 129 healthy controls. All individuals underwent videofluoroscopic swallow study (VFSS). VFSS parameters abstracted included upper esophageal sphincter (UES) opening, penetration aspiration scale (PAS), and pharyngeal constriction ratio (PCR). Other data collected included patient-reported outcome measures of voice and swallowing, number of levels fused, type of plate, vocal fold immobility, time from surgery to VFSS, and revision surgery status. Results: The mean age of the entire cohort was 63 (SD ± 11) years. The mean number of levels fused was 2.2 (±0.9). 11.6% (15/129) were revision surgeries. The mean time from ACSS to VFSS was 58.3 months (±63.2). The majority of patients (72.9%) had anterior cervical discectomy and fusion (ACDF). For persons with dysphagia after ACSS, 7.8% (10/129) had endoscopic evidence of vocal fold immobility. The mean UES opening was 0.84 (±0.23) cm for patients after ACSS and 0.86 (±0.22) cm for controls ( P > .0125). Mean PCR was 0.12 (±0.12) for persons after ACSS and 0.08 (±0.08) for controls, indicating significant post-surgical pharyngeal weakness ( P < .0125). The median PAS was 1 (IQR 1) for persons after ACSS as well as for controls. For ACSS patients, PCR had a weak correlation with EAT-10 ( P < .0125). Conclusion: Chronic swallowing dysfunction after ACSS appears to be secondary to pharyngeal weakness and not diminished UES opening, the presence of aspiration, vocal fold immobility, or ACSS instrumentation factors. Level of Evidence: 3b

Objective. To recognize intrathoracic abnormalities, including expansion or rupture of aortic aneurysms, as a source of acute onset vocal fold immobility.Methods. A case report and review of the literature.Results. An 85-year-old female with prior history of an aortic aneurysm presented to a tertiary care facility with sudden onset hoarseness. On laryngoscopy, the left vocal fold was immobile in the paramedian position. A CT scan obtained that day revealed a new, large hematoma surrounding the upper descending aortic stent graft consistent with an acute contained ruptured aortic aneurysm. She was referred to the emergency department for evaluation and treatment by vascular surgery. She was counseled regarding surgical options and ultimately decided not to pursue further treatment. Her vocal fold immobility was subsequently treated via office-based injection medialization two weeks after presentation and again 5 months after the initial injection which dramatically improved her voice. Follow-up CT scan at 8 months demonstrated a reduction of the hematoma. The left vocal cord remains immobile to date.Conclusion. Ortner’s syndrome, or cardiovocal syndrome, is hoarseness secondary to left recurrent laryngeal nerve palsy caused by cardiovascular pathology. It is a rare condition and, while typically presenting gradually, may also present with acute symptomatology.

The laryngeal video stroboscope is an important instrument for physicians to analyze abnormalities and diseases in the glottal area. Stroboscope has been widely used around the world. However, without quantized indices, physicians can only make subjective judgment on glottal images. We designed a new laser projection marking module and applied it onto the laryngeal video stroboscope to provide scale conversion reference parameters for glottal imaging and to convert the physiological parameters of glottis. Image processing technology was used to segment the important image regions of interest. Information of the glottis was quantified, and the vocal fold image segmentation system was completed to assist clinical diagnosis and increase accuracy. Regarding image processing, histogram equalization was used to enhance glottis image contrast. The center weighted median filters image noise while retaining the texture of the glottal image. Statistical threshold determination was used for automatic segmentation of a glottal image. As the glottis image contains saliva and light spots, which are classified as the noise of the image, noise was eliminated by erosion, expansion, disconnection, and closure techniques to highlight the vocal area. We also used image processing to automatically identify an image of vocal fold region in order to quantify information from the glottal image, such as glottal area, vocal fold perimeter, vocal fold length, glottal width, and vocal fold angle. The quantized glottis image database was created to assist physicians in diagnosing glottis diseases more objectively.

Introduction: The prevalence of voice abnormalities in children born prematurely has been reported to be as high as 58%. Few studies have examined these abnormalities with laryngoscopic or videostroboscopic findings and characterized their laryngeal pathologies. Objective: To review voice abnormalities in patients with a history of prematurity and characterize the etiology of their voice problems. A secondary objective is to see if there is a correlation between the findings and the patient’s intubation and surgical history. Methods: A retrospective chart review was conducted of all preterm patients seen in voice clinic at a tertiary pediatric hospital. Demographic data, diagnoses, and office laryngoscopies were reviewed as well as any speech therapy evaluations and/or medical and surgical treatments. Results: Fifty-seven patients were included. Mean age at presentation was 5.1 (±4.3) years. Mean gestational age was 27.8 (±3.7) weeks. Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) perceptual evaluations included a mean overall dysphonia severity of 46.6 (±24.2). Patients who had undergone prolonged intubation (⩾28 days) in the NICU or had prolonged NICU stays (>12 weeks) had significantly higher overall dysphonia severity scores. Thirty-three patients with vocal fold hypo- or immobility had significantly greater voice deviance in breathiness, loudness, and overall severity compared to those without vocal fold immobility. Of all patients, 35% were recommended surgical intervention and 49% voice therapy. Conclusion: Intubation greater than 28 days and prolonged NICU stays are associated with more severe dysphonia in premature patients. There should be a low threshold for clinical evaluation of dysphonia in this unique patient population.

Dear Sir, I greatly enjoyed reading the paper by David and Lim on “Congenital Bilateral Vocal Fold Paralysis”1 and complement the authors on their excellent surgical outcome. They also very appropriately underscored the primacy of careful clinical assessment over costly investigations, particularly in an environment of scarce resources. We have previously reported on the MRI findings in 23 children with bilateral vocal fold dysfunction (BVFD) as an isolated abnormality that was present at birth. We found MRI abnormalities in 35%, but these were all non-specific.2 This study indicated that MRI was of research and clinical value, but did not identify any major CNS structural abnormalities in this patient group. However, the case reported by David and Lim involved the delayed onset of symptoms at 2 years of age that may have increased over the next 3 years. This acquired and possibly progressive disease process differs from that of congenital BVFD. The likelihood of Arnold-Chiari malformation or another significant structural CNS abnormality being present would appear to be higher when symptoms of BVFD are acquired later in life compared to when they are present at birth. Anecdotally, I have been involved with a case of acquired BVFD presenting at a similar age where the underlying cause was found to be a posterior fossa tumour. The 3 year history of symptoms in the child in the case report would very likely preclude this diagnosis, but certainly another CNS cause needs to be considered to explain the development of delayed-onset brainstem dysfunction, and this would require MRI. Robert Berkowitz Department of Otolaryngology Royal Children’s Hospital Melbourne, Australia

The laryngeal pathophysiology underlying the speech disorder in idiopathic Parkinson disease (IPD) was addressed in this electromyographic study of laryngeal muscle activity. This muscle activity was examined during voice onset and offset gestures in 6 persons in the early stages of IPD who were not receiving medication. The purpose was to determine (a) if impaired voice onset and offset control for speech and vocal fold bowing were related to abnormalities in laryngeal muscle activity in the nonmedicated state and (b) if these attributes change with levodopa. Blinded listeners rated the IPD participants' voice onset and offset control before and after levodopa was administered. In the nonmedi-cated state, the IPD participants' vocal fold bowing was examined on nasoendo-scopy, and laryngeal muscle activity levels were compared with normal research volunteers. The IPD participants were then administered a therapeutic dose of levodopa, and changes in laryngeal muscle activity for voice onset and offset gestures were measured during the same session. Significant differences were found between IPD participants in the nonmedicated state:those with higher levels of muscle activation had vocal fold bowing and greater impairment in voice onset and offset control for speech. Similarly, following levodopa administration, those with thyroarytenoid muscle activity reductions had greater improvements in voice onset and offset control for speech. In this study, voice onset and offset control ifficulties and vocal fold bowing were associated with increased levels of aryngeal muscle activity in the absence of medication.

AbstractIntroduction:Vocal fold paralysis can be an early warning sign of serious extra-laryngeal pathology. Even if imaging investigations show no pathology, there is always concern about the emergence of new pathology in the future. There is currently no consensus on the best follow-up protocol for vocal fold paralysis patients with no abnormalities on investigation.Methods:Systematic review, using an Ovid and Medline database search of papers written in the English language and published in the last 20 years.Results:Eight relevant studies were identified. Not all of them were directly comparable. A narrative review of the studies is presented and conclusions are drawn.Conclusion:Current diagnostic modalities are sufficiently reliable and sensitive to diagnose any significant existing extra-laryngeal pathology. Thus, once initial investigation (including computed tomography) has concluded, no further follow up is necessary.

Phonomicrosurgery in performing artists has historically been approached with great trepidation, and vocal outcome data are sparse. The vocal liability of surgically disturbing the superficial lamina propria (SLP) and epithelium must be balanced with the inherent detrimental vocal effect of the lesion(s). A prospective investigation was performed on 185 performing artists who underwent phonomicrosurgical resection of 365 lesions: 201 nodules, 71 polyps, 66 varices and ectasias, 13 cysts, 8 keratotic lesions. 2 granulomas, 2 Reinke's edema, and 2 papillomas. Nearly all patients with SLP lesions reported improvement in their postsurgical vocal function. This subjective result was supported by objective acoustic and aerodynamic measures. All postsurgical objective vocal function measures fell within normal limits, including a few that displayed presurgical abnormalities. However, given the relative insensitivity of standard objective measures to assess higher-level vocal performance-related factors, it is even more noteworthy that 8 of 24 objective measures displayed statistically significant postsurgical improvements in vocal function. Such changes in objective measures mostly reflect overall enhancement in the efficiency of voice production. Phonomicrosurgical resection of vocal fold lesions in performing artists is enjoying an expanding role because of a variety of improvements in diagnostic assessment, surgical instrumentation and techniques, and specialized rehabilitation. Most of these lesions are the result of phonotrauma and arise within the SLP. Successful management depends on prudent patient selection and counseling, ultraprecise technique, and vigorous vocal rehabilitation. Furthermore, an understanding of the vocal function and dysfunction of this high-performance population provides all otolaryngologists who manage laryngeal problems with valuable information that they can extrapolate for use in their practices.

Medialization laryngoplasty has become a routine procedure for cases of unilateral vocal fold paralysis. In certain clinical situations, it may become desirable to reverse the procedure and remove the implant. This process was studied experimentally in eight dogs in a chronic model of induced canine phonation. A silicone polymer implant was inserted to medialize one normal vocal fold for a period of 1 month, after which it was removed. Motion of the cricoarytenoid (CA) joint and induced phonation were studied weekly while the implant was in place, and for another month following implant removal. Significant abnormalities were found even with this relatively short period of implantation. With the implant in place, impairment of CA joint mobility was found in seven of the eight dogs, precluding phonation. A dense fibrous capsule rapidly developed around the implant, making its removal technically difficult. Following implant removal, a gradual return to normal function was found in only three of the eight dogs. One of the animals had evidence of neural injury, while four had intact neural function but impaired mobility or fixation of the CA joint. Medialization laryngoplasty should not be considered a reversible procedure. The clinical implications of these findings are discussed.

Objective To determine the incidence and significance of asymmetric hypermetabolic laryngeal findings on positron emission tomography–computed tomography (PET-CT) in patients with unilateral true vocal fold (TVF) motion abnormalities. Study Design Retrospective cohort. Setting Single-center tertiary care institution. Subjects and Methods The medical records of patients with unilateral TVF motion abnormalities were reviewed. The incidence of normal and asymmetric hypermetabolic laryngeal findings was calculated in patients who underwent PET-CT and laryngeal examination, operative laryngoscopy with biopsy, or injection medialization laryngoplasty. Results A total of 135 patients with unilateral TVF motion abnormalities underwent PET-CT. After exclusion of patients who completed new or surveillance imaging for a laryngeal neoplasm (n = 27), asymmetric hypermetabolic findings in the larynx were noted in 21 (19%) cases: 13 (12%) on the contralateral side of the impaired TVF, 8 (7%) on the ipsilateral side. Two (25%) patients with ipsilateral hypermetabolism had concerning subsequent fiberoptic laryngeal examinations prompting operative biopsy. There was no evidence of inflammatory or neoplastic disease in all patients with contralateral hypermetabolic findings. Fifteen patients completed PET-CT scans after injection medialization procedures; 6 (40%) displayed avidity ipsilateral to the side of the injection. The median time from injection to scan was 27 days, as opposed to 193 days in the unremarkable scans ( P = .011). Conclusion Contralateral hypermetabolism in patients with unilateral TVF motion abnormalities may represent a false-positive finding. Ipsilateral hypermetabolic uptake without recent fold instrumentation warrants prompt diagnostic evaluation.

The novel coronavirus disease (COVID-19), caused by the SARS-CoV-2 virus, has quickly become a global pandemic since its initial outbreak in China in late 2019. Institutions are faced with the challenge of upholding the standard of care while maintaining safety for health care personnel and patients. Due to the common performance of aerosol-generating endoscopic procedures in the upper respiratory tract, otolaryngologists are at uniquely high risk for potential infection. When possible, alternative diagnostic and treatment strategies should be pursued. For patients suspected of having functional laryngeal abnormalities, transcervical laryngeal ultrasound provides a rapid and noninvasive evaluation of vocal fold motion to inform decisions about safety of feeding, airway, and progression of care.

Coccidioidomycosis is a predominantly pulmonary disease caused by species of Coccidioides, a fungus endemic to the American Southwest. Most cases involve exclusively pulmonary manifestations while less than one percent present with disseminated infection, usually with meningeal or skin involvement. In this case, a patient with a history of odynophagia, sore throat, productive cough, weight loss, and abnormalities on chest radiograph presented with sepsis and diabetic ketoacidosis. During admission, the patient underwent bronchoscopy with resulting tissue and bronchoalveolar lavage samples positive for Coccidioides immitis, later supported by confirmatory serum studies. This case illustrates a rare presentation of vocal fold involvement without direct invasion from a continuous site and highlights the importance of a high index of suspicion for disseminated coccidioidomycosis with prompt antifungal treatment in order to avoid the very high morbidity and mortality in such cases.

AbstractObjectiveWe report our experience in developing a paediatric voice clinic within a tertiary otolaryngology department and describe the emerging role of this specialized clinic.MaterialsCurrently our referral base is divided between other otolaryngologists within our department who require voice assessment as part of the pre- or post-operative management of laryngeal disorders (e.g. cysts, webs, vocal fold palsies, laryngo-tracheal reconstruction) and other professionals within our hospital who require characterisation of voice within the broader task of defining medical conditions in which voice abnormalities exist (e.g. mucopolysaccharidoses, functional dysphonias).MethodsThe patients were assessed by a team consisting of a paediatric laryngologist and a speech and language therapist. Each patient underwent a perceptual voice assessment and qualitative voice assessment using electrolaryngography. Direct visualisation was attempted and methods of and suitability for, such examination are discussed.ResultsOur experience is reviewed and guidelines for the establishment of a paediatric voice clinic are presented.

OBJECTIVES/HYPOTHESIS: To determine the incidence of voice disturbance as a presenting symptom of amyotrophic lateral sclerosis (ALS) and describe laryngologic features of ALS. STUDY DESIGN: Retrospective review. METHODS: Records of patients with voice disturbance at a voice center and ALS patients at a neurology clinic were reviewed from January 1998 to March 2003. RESULTS: 15 of 1759 patients with voice disturbance were later diagnosed with ALS. Of 220 ALS patients presenting to neurology clinic, 44 had bulbar symptoms and 19 had initially presented to an otolaryngologist. Dysarthria, dysphagia, tongue fasciculation, and incomplete vocal fold closure were common findings. Neuromuscular disease was missed in 8 of 19 ALS patients seen by an otolaryngologist. CONCLUSIONS: Although otolaryngologists rarely encounter undiagnosed ALS patients, a significant portion of bulbar ALS patients are initially evaluated by otolaryngologists. SIGNIFICANCE: Vigilance for neuromuscular abnormalities on otolaryngologic exam is important in patients who present with dysarthria, dysphonia, or dysphagia. EBM rating: C.

Use of rigid direct larygnoscopy (RDL) in the investigation of stridor in children is well recognized. This study presents awake flexible fibre-optic laryngoscopy (FFL) as the first line in investigation of children, under six months of age, who present with stridor without any associated respiratory distress. Using the per oral approach the procedures were conducted either in the out-patient department or in the ward. No anaesthesia, local or general, nor sedation was used. Of the 20 cases included in the study, in 16 (80 per cent) cases a working diagnosis was reached on awake FFL. Eleven had laryngomalacia, two subglottic stenosis, one glottic web and two were normal. Only four (20 per cent) cases needed RDL to reach a definitive diagnosis. There were no problems with the maintenance of the airway during the procedure. It is particularly useful in the diagnosis of functional abnormalities of the larynx, such as laryngomalacia and vocal fold palsies. Awake FFL using the per oral approach is a safe and reliable technique for reaching a working diagnosis in approximately 80 per cent of cases.

Objective: Hemi-laryngopharyngeal spasm (HeLPS) has recently been described in the neurosurgical literature as a cause of intermittent laryngopharyngeal spasm and cough due to vascular compression of the vagus nerve at the cerebellopontine angle. We present the diagnostic criteria for this syndrome. Methods: A retrospective chart review of six patients with HeLPS and three patients misdiagnosed with this condition are presented. All patients were diagnosed and treated at a tertiary care academic centre from July 2013 to July 2017. Results: Patients with HeLPS had five defining characteristics: 1) All patients had symptoms of episodic laryngopharyngeal spasm and coughing. Patients were asymptomatic between episodes and were refractory to speech therapy and reflux management. 2) Laryngoscopy showed hyperactive twitching of the ipsilateral vocal fold in two of the six patients. No other inter-episodic abnormalities were seen. 3) Botulinum toxin A injections into the thyroarytenoid muscle on the affected ipsilateral side reduced laryngopharyngeal spasms. Botulinum toxin injection in the contralateral thyroarytenoid muscle did not improve laryngopharyngeal spasm. 4) Magnetic resonance imaging revealed ipsilateral neurovascular compression of the vagus nerve rootlets by the posterior inferior cerebellar artery. 5) Microvascular decompression (MVD) surgery of the ipsilateral vagus nerve resolved all symptoms (follow-up 2-4 years). Conclusion: The diagnostic criteria for hemi-laryngopharyngeal spasm (HeLPS) are proposed. Otolaryngology recognition of this new clinical entity may lead to a surgical cure and avoid the unnecessary therapies associated with misdiagnosis. Level of Evidence: 4

Abstract Aim of work This is a cross sectional case control study to asses vocal folds abnormalities and voice analysis in asthmatic children to detect subclinical changes and to correlate them with their various clinical and functional grading and level of control. Methods the study included 48 asthmatic children (34 males and 14 females ) regularly attending Pediatric chest Clinic, Ain Shams university for follow up.Their median age was 7.8 years ± 2.15 IQR. A 12 age and sex matched healthy children were chosen as control group. For all patients and control the following were done: history taking,General and chest examination, Spirometry Pulmonary functions(FEV1,FVC,), videolaryngoscopy (VLS)and Multidimensional voice analysis (MDVA) . Results VideoLaryngoscopy (VLS) of asthmatic patients showed different abnormalities in 26 cases ( 54.2% ).eg Phonatory west 1mm from the middle line(4 cases), Bilateral vocal folds nodules (4 cases), Bilateral thickening of both vocal folds(3 cases), Vocal fold cyst.(4 cases). Asthmatic children with abnormal finding in (VLS) had a statistical significant lower values of FEV1 and MMEF with higher percentage of poor asthma control. Voice analysis showed impairment of voice acoustics in asthmatic children with significant difference between asthmatic and control as regards voice analysis data with significant higher jitter and shimmer dB (measure of voice amplitude and detector of early hoarseness of voice) . Conclusion Asthmatic patients may have an associated Laryngeal or vocal folds abnormalities which are considered a comorbid condition and one of the causes of poor asthma control. Voice analysis may help in detection of subclinical hoarseness of voice which may be sequelae of chronic cough or side effects of inhaled steroids.

Presbylarynx refers to age-related structural changes of the vocal folds that include muscle atrophy, reduced neuromuscular control, loss of superficial lamina propria layer, and reduced pliability. The changes result in thin and bowed vocal folds, increased vocal effort requirements, breathy voice, change in habitual pitch, and strain. The primary treatment options are voice therapy focused on strengthening breath support and the intrinsic muscles of the larynx, and optimization of resonance; injection augmentation of the vocal folds; and type I thyroplasty. Functional dysphonia is defined as change in voice quality in the absence of structural or neurological abnormalities of the larynx. Muscle tension dysphonia (MTD) is a subtype of functional voice disorders and involves laryngeal muscle tension imbalance due to excessive or dysregulated activation resulting often in strained or breathy voice. MTD can be divided into primary (psychological etiology or vocal misuse) and secondary (compensatory for organic laryngeal pathology). The mainstay of treatment for MTD is voice therapy, along with medical or surgical treatment of the underlying vocal pathology in secondary MTD. Mutational falsetto, or puberphonia, is a functional voice disorder where a high-pitched, pre-adolescent voice fails to transition to the lower pitch of adulthood. This review contains 5 figures, 7 tables, 4 videos and 10 references Key Words: Presbylarynx, Injection augmentation, Type I thyroplasty, Primary muscle tension dysphonia, Secondary muscle tension dysphonia, Muscle tension patterns, Manual circumlaryngeal therapy, Functional dysphonia, Mutational falsetto

Upper airway endoscopy at rest has been the diagnostic method of choice for equine upper respiratory tract (URT) conditions. Development of high-speed treadmill endoscopy improved the sensitivity of URT endoscopy by allowing observation of the horse’s nasopharynx and larynx during exercise. However, treadmill exercise may not always accurately represent the horse’s normal exercise as track surface, rider, tack and environmental variables are altered. Recently, the development of dynamic overground endoscopy (DOE) has addressed some of these shortcomings. A retrospective study was undertaken to describe the URT abnormalities detected during DOE in racehorses presenting with poor performance and/or abnormal respiratory noise. Patient records of Thoroughbred racehorses undergoing DOE from November 2011 to August 2012 were reviewed. Data collected included signalment, primary complaint, distance exercised, maximum speed and dynamic airway abnormalities detected. Fifty-two horses underwent DOE for investigation of poor performance and/or abnormal respiratory noise. The main abnormalities detected included axial deviation of the aryepiglottic folds (40%), vocal cord collapse (35%), abnormal arytenoid function (33%) and dorsal displacement of the soft palate (25%). A total of 40 horses were diagnosed with one or more abnormalities of the URT (77%). Fifteen horses (29%) had a single abnormality and 25 horses (48%) had multiple abnormalities. This study showed that DOE is a useful technique for investigating dynamic disorders of the URT in racehorses in South Africa. The total number and type of dynamic pathological conditions were comparable with those identified in similar populations in other geographical locations.

Arytenoid dislocation and subluxations commonly are reduced surgically using Holinger and straight Miller-3 laryngoscopes. We present a case of arytenoid cartilage subluxation returned to good position using a 28-Jackson dilator. A 66-year-old man was diagnosed previously with right vocal fold paresis and left vocal fold paralysis following a motor vehicle accident that required a 14-day intubation and tracheotomy maintained for 3 weeks. Evaluation by strobovideolaryngoscopy 3 months following the accident showed severe left vocal fold hypomotility and arytenoid height disparity; laryngeal electromyography showed only mild-to-moderate decreased recruitment in laryngeal muscles. No abnormalities were appreciated on neck computed tomography. Upon palpation of both arytenoid cartilages in the operating room, the left joint was found to be subluxed anteriorly and immobile. A 28-Jackson dilator was used to mobilize and reduce the left arytenoid cartilage, and steroid was injected into the cricothyroid joint. Increased mobility was obtained in the operating room and the patient reported significant improvement in his voice. Six months later, we saw improvement in arytenoid height disparity and left vocal fold movement, better glottic closure, and voice handicap index was improved. A 28-Jackson dilator can be used to manipulate the cricoarytenoid joint without trauma to the vocal process.

There are days when having a child with Down syndrome can mean losing all hope of being an ordinary mother: a mother with run of the mill concerns, a mother with run of the mill routines. I know. I’ve had such days. I’ve also found that sharing these feelings with other mothers, even those who have a child with a disability, isn’t always easy. Or straightforward. In part I believe my difficulty sharing my experience with other mothers is because the motherhood issues surrounding the birth of a child with Down syndrome are qualitatively different to those experienced by mothers who give birth to children with other disabilities. Disabilities such as autism or cerebral palsy. The mother who has a child with autism or cerebral palsy is usually viewed as a victim - as having had no choice – of life having dealt her a cruel blow. There are after all no prenatal tests that can currently pick up these defects. That she may not see herself as a victim or her child as a victim often goes unreported, instead in the eyes of the popular media to give birth to a child with a disability is seen as a personal tragedy – a story of suffering and endurance. In other words disability is to be avoided if at all possible and women are expected to take advantage of the advances in reproductive medicine – to choose a genetically correct pregnancy – thus improving their lives and the lives of their offspring. Within this context it is not surprising then that the mother of a child with Down syndrome is likely to be seen as having brought the suffering on herself – of having had choices – tests such as amniocentesis and CVS – but of having failed to take control, failed to prevent the suffering of her child. But how informative are tests such as pre-implantation diagnosis, CVS or amniocentesis? How meaningful? More importantly, how safe is it to assume lives are being improved? Could it be, for example, that some lives are now harder rather than easier? As one mother who has grappled with the issues surrounding prenatal testing and disability I would like to share with you our family’s experience and hopefully illuminate some of the more complex and troubling issues these technological advances have the capacity to create. Fraser’s Pregnancy I fell pregnant with Fraser in 1995 at the age of thirty-seven. I was already the mother of a fifteen-month old and just as I had during his pregnancy – I took the routine maternal serum alpha-fetoprotein blood screen for chromosomal abnormalities at sixteen weeks. It showed I was at high risk of having a child with Down syndrome. However as I’d had a similarly high-risk reading in my first pregnancy I wasn’t particularly worried. The risk with Fraser appeared slightly higher, but other than knowing we would have to find time to see the genetic counsellor again, I didn’t dwell on it. As it happened Christopher and I sat in the same office with the same counsellor and once again listened to the risks. A normal foetus, as you both know, has 46 chromosomes in each cell. But given your high AFP reading Fiona, there is a significant risk that instead of 46 there could be 47 chromosomes in each cell. Each cell could be carrying an extra copy of chromosome 21. And as you both know, she continued her voice deepening; Trisomy 21 is associated with mild to severe intellectual disability. It also increases the risk of childhood leukaemia; certain cardiac disorders and is associated with other genetic disorders such as Hirschsprung’s disease. We listened and just as we’d done the first time – decided to have a coffee in the hospital café. This time for some reason the tone was different, this time we could feel the high-octane spiel, feel the pressure pound through our bodies, pulsate through our veins – we should take the test, we should take the test, we should take the test. We were, were we not, intelligent, well-educated and responsible human beings? Surely we could understand the need to invade, the need to extract a sample of amniotic fluid? Surely there were no ifs and buts this time? Surely we realised we had been very lucky with our first pregnancy; surely we understood the need for certainty; for reliable and accurate information this time? We did and we didn’t. We knew for example, that even if we ruled out the possibility of Down syndrome there was no guarantee our baby would be normal. We’d done our research. We knew that of all the children born with an intellectual disability only twenty five percent have a parentally detectable chromosomal disorder such as Down syndrome. In other words, the majority of mothers who give birth to a child with an intellectual disability will have received perfectly normal, utterly reassuring amniocentesis results. They will have put themselves at risk and will have been rewarded with good results. They will have been expecting a baby they could cherish, a baby they could feel proud of – a baby they could love. Our Decision Should we relent this time? Should we accept the professional advice? We talked and we talked. We knew if we agreed to the amniocentesis it would only rule out Down syndrome – or a less common chromosomal disorder such as Trisomy 18 or Trisomy 13. But little else. Four thousand other known birth defects would still remain. Defects such as attention deficit disorder, cleft lip, cleft palate, clubfoot, congenital cardiac disorder, cystic fibrosis, epilepsy, ... would not magically disappear by agreeing to the test. Neither would the possibility of giving birth to a child with autism or cerebral palsy. Or a child with vision, hearing or speech impairment. Neurological problems, skin problems or behavioural difficulties... We were however strongly aware the drive to have a normal child was expected of us. That we were making our decision at a time when social and economic imperatives dictated that we should want the best. The best partner, the best career, the best house ... the best baby. I had already agreed to a blood test and an ultrasound, so why not an amniocentesis? Why stop now? Why not proceed with a test most women over the age of thirty-five consider essential? What was wrong with me? Put simply, the test didn’t engage me. It seemed too specific. Too focused. Plus there was also a far larger obstacle. I knew if I agreed to the test and the words chromosomal disorder were to appear – a certain set of assumptions, an as yet unspoken trajectory would swiftly emerge. And I wasn’t sure I would be able to follow its course. Beyond the Test I knew if the test results came back positive I would be expected to terminate immediately. To abort my affected foetus. The fact I could find it difficult to fall pregnant again after the termination or that any future foetus may also be affected by a birth defect would make little difference. Out the four thousand known birth defects it would be considered imperative not to proceed with this particular one. And following on from that logic it would be assumed that the how – the business of termination – would be of little importance to me given the perceived gravity of the situation. I would want to solve the problem by removing it. No matter what. Before the procedure (as it would be referred to) the staff would want to reassure me, would want to comfort me – and in soothing voices tell me that yes; yes of course this procedure is in your best interests. You and your baby shouldn’t be made to suffer, not now or ever. You’re doing the right thing, they would reassure me, you are. But what would be left as unsaid would be the unavoidable realities of termination. On the elected day, during what would be the twenty-second week of my pregnancy, I would have to consent to the induction of labour. Simultaneously, I would also be expected to consent to a foetal intra-cardiac injection of potassium chloride to ensure the delivery of a dead baby. I would be advised to give birth to a dead baby because it would be considered better if I didn’t hear the baby cry. Better if I didn’t see the tiny creature breathe. Or try to breathe. The staff would also prefer I consent, would prefer I minimised everyone else’s distress. Then after the event I would be left alone. Left alone to my own devices. Left alone with no baby. I would be promised a tiny set of foot and handprints as a memento of my once vibrant pregnancy. And expected to be grateful, to be thankful, for the successful elimination of a pending disaster. But while I knew the staff would mean well, would believe they were doing the right thing for me, I knew it wasn’t the road for me. That I just couldn’t do it. We spent considerably longer in the hospital café the second time. And even though we tried to keep things light, we were both subdued. Both tense. My risk of having a baby with Down syndrome had come back as 1:120. Yes it was slightly higher than my first pregnancy (1:150), but did it mean anything? Our conversation was full of bumps and long winding trails. My Sister’s Experience of Disability Perhaps the prospect of having a child with Down syndrome didn’t terrify me because my sister had a disability. Not that we ever really referred to it as such, it was only ever Alison’s epilepsy. And although it was uncontrollable for most of her childhood, my mother tried to make her life as normal as possible. She was allowed to ride a bike, climb trees and swim. But it wasn’t easy for my mother because even though she wanted my sister to live a normal life there were no support services. Only a somewhat pessimistic neurologist. No one made the link between my sister’s declining school performance and her epilepsy. That she would lose the thread of a conversation because of a brief petit mal, a brief moment when she wouldn’t know what was going on. Or that repeated grand mal seizures took away her capacity for abstract thought and made her more and more concrete in her thinking. But despite the lack of support my mother worked long and hard to bring up a daughter who could hold down a full time job and live independently. She refused to let her use her epilepsy as an excuse. So much so that even today I still find it difficult to say my sister had a disability. I didn’t grow up with the word and my sister herself rarely used it to describe herself. Not surprisingly she went into the field herself working at first as a residential worker in a special school for disabled children and later as a rehabilitation counsellor for the Royal Blind Society. Premature Babies I couldn’t understand why a baby with Down syndrome was something to be avoided at all costs while a baby who was born prematurely and likely to emerge from the labour-intensive incubator process with severe life-long disabilities was cherished, welcomed and saved no matter what the expense. Other than being normal to begin with – where was the difference? Perhaps it was the possibility the premature baby might emerge unscathed. That hope remained. That there was a real possibility the intense and expensive process of saving the baby might not cause any damage. Whereas with Down syndrome the damage was done. The damage was known. I don’t know. Perhaps even with Down syndrome I felt there could be hope. Hope that the child might only be mildly intellectually disabled. Might not experience any of the serious medical complications. And that new and innovative treatments would be discovered in their lifetime. I just couldn’t accept the conventional wisdom. Couldn’t accept the need to test. And after approaching the decision from this angle, that angle and every other angle we could think of we both felt there was little more to say. And returned to our genetic counsellor. The Pressure to Conform Welcome back, she smiled. I’d like to introduce you to Dr M. I nodded politely in the doctor’s direction while immediately trying to discern if Christopher felt as caught off guard as I did. You’ll be pleased to know Dr M can perform the test today, she informed us. Dr M nodded and reached out to shake my hand. It’s a bit of a squeeze, she told me, but I can fit you in at around four. And don’t worry; she reassured me, that’s what we’re here for. I was shocked the heavy artillery had been called in. The pressure to conform, the pressure to say yes had been dramatically heightened by the presence of a doctor in the room. I could also sense the two women wanted to talk to me alone. That they wanted to talk woman to woman, that they thought if they could get me on my own I would agree, I would understand. That it must be the male who was the stumbling block. The problem. But I could also tell they were unsure; Christopher was after all a doctor, a member of the medical profession, one of them. Surely, they reasoned, surely he must understand why I must take the test. I didn’t want to talk to them alone. In part, because I felt the decision was as much Christopher’s as it was mine. Perhaps a little more mine, but one I wanted to make together. And much to their dismay I declined both the talk and the amniocentesis. Well, if you change your mind we’re here the counsellor reassured me. I nodded and as I left I made a point of looking each woman in the eye while shaking her hand firmly. Thank you, but no thank you, I reassured them. I wanted the baby I’d felt kick. I wanted him or her no matter what. After that day the whole issue pretty much faded, in part because soon after I developed a heart problem, a tachycardia and was fairly restricted in what I could do. I worried about the baby but more because of the medication I had to take rather than any genetic issue to do with its well being. The Birth Despite my heart condition the birth went well. And I was able to labour naturally with little intervention. I knew however, that all was not right. My first glimmer of recognition happened as I was giving birth to Fraser. He didn't push against me, he didn't thrust apart the walls of my birth canal, didn’t cause me to feel as though I was about to splinter. He was soft and floppy. Yet while I can tell you I knew something was wrong, knew instinctively – at another level I didn't have a clue. So I waited. Waited for his Apgar score. Waited to hear what the standard assessment of newborn viability would reveal. How the individual scores for activity (muscle tone), pulse (heart rate), grimace (reflex response), appearance (colour) and respiration (breathing) would add up. I knew the purpose of the Apgar test was to determine quickly whether or not Fraser needed immediate medical care – with scores below 3 generally regarded as critically low, 4 to 6 fairly low, and over 7 generally normal. Fraser scored 8 immediately after birth and 9 five minutes later. His markers of viability were fine. However all was not fine and within minutes he received a tentative diagnosis – whispers and murmurs placing a virtual sticker on his forehead. Whispers and murmurs immediately setting him apart from the normal neonate. Whispers and murmurs of concern. He was not a baby they wanted anything to do with – an experience they wanted anything to do with. In a very matter of fact voice the midwife asked me if I had had an amniocentesis. I said no, and thankfully because I was still feeling the effects of the gas, the bluntness and insensitivity of her question didn't hit me. To tell the truth it didn't hit me until years later. At the time it registered as a negative and intrusive question – certainly not the sort you want to be answering moments after giving birth – in the midst of a time that should be about the celebration of a new life. And while I can remember how much I disliked the tenor of her voice, disliked the objectifying of my son, I too had already begun a process of defining, of recognising. I had already noted he was floppy and too red. But I guess the real moment of recognition came when he was handed to me and as a way of making conversation I suggested to Christopher our baby had downsy little eyes. At the time Christopher didn’t respond. And I remember feeling slightly miffed. But it wasn’t until years later that I realised his silence had been not because he hadn’t wanted to chat but because at that moment he’d let his dread, fear and sadness of what I was suggesting go straight over my head. Unconsciously though – even then – I knew my son had Down syndrome, but I couldn't take it in, couldn't feel my way there, I needed time. But time is rarely an option in hospital and the paediatrician (who we knew from the birth of our first son) was paged immediately. Disability and the Medical Paradigm From the perspective of the medical staff I was holding a neonate who was displaying some of the 50 signs and symptoms suggestive of Trisomy 21. Of Down syndrome. I too could see them as I remembered bits and pieces from my 1970s nursing text Whaley and Wong. Remembered a list that now seems so de-personalised, so harsh and objectifying. Flat faceSmall headFlat bridge of the noseSmaller than normal, low-set noseSmall mouth, causing the tongue to stick out and look unusually largeUpward slanting eyesExtra folds of skin at the inside corner of each eyeRounded cheeksSmall, misshapened earsSmall, wide handsA deep crease across the center of each palmA malformed fifth fingerA wide space between the big and second toesUnusual creases on the soles of the feetOverly-flexible joints (as in people who are double-jointed)Shorter than normal height Christopher and I awaited the arrival of the paediatrician without the benefits of privacy, only able to guess at what the other was thinking. We only had the briefest of moments alone when they transferred me to my room and Christopher was able to tell me that the staff thought our son had what I had blurted out. I remember being totally devastated and searching his face, trying to gauge how he felt. But there was no time for us to talk because as soon as he had uttered the words Down syndrome the paediatrician entered the room and it was immediately apparent he perceived our birth outcome a disaster. You’re both professionals he said, you both know what we are thinking. But he couldn’t bring himself to say the words, say Down syndrome, and instead went on about the need for chromosomal testing and the likelihood of a positive result. The gist, the message about our son was that while he would walk, might even talk, he would never cook, never understand danger and never live independently, never, never, never... Fraser was only an hour or so old and he’d already been judged, already been found wanting. Creating Fraser’s Cultural Identity The staff wanted me to accept his diagnosis and prognosis. I on the other hand wanted to de-medicalise the way in which his existence was being shaped. I didn’t want to know right then and there about the disability services to which I would be entitled, the possible medical complications I might face. And in a small attempt to create a different kind of space, a social space that could afford my son an identity that wasn’t focused on his genetic make-up, I requested it not be assumed by the staff that he had Down syndrome until the results of the blood tests were known – knowing full well they wouldn’t be available until after I’d left hospital. Over the next few days Fraser had to spend some time in the neonatal intensive care unit because of an unrelated medical problem. His initial redness turning out to be a symptom of polycythemia (too many red blood cells). And in many ways this helped me to become his mother – to concentrate on looking after him in the same way you would any sick baby. Yet while I was deeply confident I was also deeply ashamed. Deeply ashamed I had given birth to a baby with a flaw, a defect. And processing the emotions was made doubly difficult because I felt many people thought I should have had prenatal testing – that it was my choice to have Fraser and therefore my fault, my problem. Fortunately however these feelings of dejection were equally matched by a passionate belief he belonged in our family, and that if he could belong and be included in our lives then there was no reason why he couldn’t be included in the lives of others. How Prenatal Testing Shapes Our Lives It is now twelve years since I gave birth to Fraser yet even today talking about our lives can still mean having to talk about the test – having to explain why I didn’t agree to an amniocentesis. Usually this is fairly straightforward, and fairly painless, but not always. Women have and still do openly challenge my decision. Why didn’t I take control? Aren’t I a feminist? What sort of a message do I think I am sending to younger women? Initially, I wasn’t able to fathom how anyone could perceive the issue as being so simple – take test, no Down syndrome. And it wasn’t until I saw the film Gattaca in 1997 that I began to understand how it could seem such a straightforward issue. Gattaca explores a world in which genetic discrimination has been taken to its logical conclusion – a world in which babies are screened at birth and labeled as either valids or in-valids according to their DNA status. Valids have every opportunity open to them while in-valids can only do menial work. It is a culture in which pre-implantation screening and prenatal testing are considered givens. Essential. And to challenge such discrimination foolish – however in the film the main character Vincent does just that and despite his in-valid status and its inherent obstacles he achieves his dream of becoming an astronaut. The film is essentially a thriller – Vincent at all times at risk of his true DNA status being revealed. The fear and loathing of imperfection is palpable. For me the tone of the film was a revelation and for the first time I could see my decision through the eyes of others. Feel the shock and horror of what must appear an irrational and irresponsible decision. Understand how if I am not either religious or anti-abortion – my objection must seem all the more strange. The film made it clear to me that if you don’t question the genes as destiny paradigm, the disability as suffering paradigm then you probably won’t think to question the prenatal tests are routine and essential paradigm. That you will simply accept the conventional medical wisdom – that certain genetic configurations are not only avoidable, but best avoided. Paradoxically, this understanding has made mothering Fraser, including Fraser easier and more enjoyable. Because I understand the grounds on which he was to have been excluded and how out of tune I am with the conventional thinking surrounding pregnancy and disability – I am so much freer to mother and to feel proud of my son. I Would Like to Share with You What Fraser Can Do He canget dressed (as long as the clothes are already turned the right side out and have no buttons!) understand most of what mum and dad sayplay with his brothers on the computermake a cup of coffee for mumfasten his own seatbeltwait in the car line with his brothersswim in the surf and catch waves on his boogie boardcompete in the school swimming carnivaldraw for hours at a time (you can see his art if you click here) Heis the first child with Down syndrome to attend his schoolloves the Simpsons, Futurama and Star Wars begs mum or dad to take him to the DVD store on the weekendsloves sausages, Coke and salmon rissottoenjoys life is always in the now Having fun with Photo Booth His brothers Aidan and Harrison Brotherly Love – a photo taken by Persia (right) and exhibited in Local Eyes. It also appeared in The Fitz Files (Sun-Herald 30 Mar. 2008) What Excites Me Today as a Mother I love that there is now hope. That there is not just hope of a new test, a reliable non-invasive prenatal test, but hope regarding novel treatments – of medications that may assist children with Down syndrome with speech and memory. And an increasingly vocal minority who want to talk about how including children in mainstream schools enhances their development, how children with Down syndrome can, can, can … like Persia and Tyler for example. That perhaps in the not too distant future there will be a change in the way Down syndrome is perceived – that if Fraser can, if our family can – then perhaps mothering a child with Down syndrome will be considered culturally acceptable. That the nexus between genetics and destiny will be weakened in the sense of needing to choose one foetus over another, but strengthened by using genetic understandings to enhance and assist the lives of all individuals no matter what their genetic make-up. And perhaps one day Down syndrome will be considered a condition with which you can conceive. Can imagine. Can live. And not an experience to be avoided at all costs.