Search Results (31)

Background: A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral–motor dysfunctions. Objective: This study aims to investigate the effectiveness of speech and language intervention in addressing the multifaceted challenges of CdCS, including speech and language impairments, feeding difficulties, and social communication deficits. Methods: A narrative review was conducted to synthesize existing studies from the last 35 years on therapeutic interventions for individuals with CdCS. This review focused on interventions targeting speech, language, and swallowing therapy. Comprehensive searches were performed in the PubMed and Scopus databases using descriptors such as “Cri du Chat”, “swallowing disorders”, “speech disorders”, “speech and language disorders”, and “speech and language therapy.” From the identified records, 40 peer-reviewed English-language publications that addressed speech, language, and swallowing interventions were selected based on relevance and inclusion criteria. Data extraction was performed independently by four reviewers, working in two teams. Any disagreements between the teams were resolved through discussion with an independent researcher to ensure reliability and minimize bias. Results: The findings demonstrate that speech and language therapy (SLT) significantly enhances speech clarity, articulation, and oral–motor coordination. Augmentative communication systems effectively bridge gaps in nonverbal communication, fostering improved social interaction. Specific interventions reduce aspiration risks and improve feeding safety, enhancing the overall quality of life. Early multidisciplinary approaches and tailored therapeutic strategies are key to maximizing the benefits of SLT. Conclusions: SLT is crucial for improving communication, swallowing, and social integration in individuals with CdCS. Regular early intervention involving individualized programs and family participation is recommended to achieve optimal outcomes. Further research is needed to evaluate long-term effects and develop cultural and technologically adaptable therapies. Full article

Recurrent laryngeal nerve palsy remains a significant complication following minimally invasive esophagectomy for esophageal cancer. Despite advancements in surgical techniques and lymphadenectomy precision, the incidence of recurrent laryngeal nerve palsy has not been improved. Recurrent laryngeal nerve palsy predominantly affects the left side and may lead to unilateral or bilateral vocal cord paralysis, resulting in hoarseness, dysphagia, and an increased risk of aspiration pneumonia. While most cases of recurrent laryngeal nerve palsy are temporary and resolve within 6 to 12 months, some patients may experience permanent nerve dysfunction, severely impacting their quality of life. Prevention strategies, such as nerve integrity monitoring, robotic-assisted minimally invasive esophagectomy, and advanced dissection techniques, aim to minimize nerve injury, though their effectiveness varies. The management of recurrent laryngeal nerve palsy includes voice and swallowing rehabilitation, reinnervation techniques, and, in severe cases, surgical interventions such as thyroplasty and intracordal injection. As recurrent laryngeal nerve palsy can lead to significant postoperative respiratory complications, a multidisciplinary approach involving surgical precision, early detection, and comprehensive rehabilitation is crucial to improving patient outcomes and minimizing long-term morbidity in minimally invasive esophagectomy. This review article aims to inform esophageal surgeons and other clinicians about strategies for the prevention and management of recurrent laryngeal nerve palsy in esophagectomy. Full article

Background: Hyperthyroidism, characterized by excessive thyroid hormone production, presents in diverse clinical forms, including overt and subclinical disease. Accurate and timely diagnosis is critical to prevent complications such as cardiac dysfunction, osteoporosis, and thyroid storm. Objective: To provide a comprehensive review of the clinical presentation, diagnostic methods, and management strategies for hyperthyroidism, focusing on current practices, advancements, and challenges in treatment. Methods: This review synthesizes findings from peer-reviewed literature on the diagnosis and management of hyperthyroidism. Results: Thyroid function tests (TFTs) are the cornerstone of hyperthyroidism diagnosis, with suppressed TSH levels and elevated T3 and/or T4 levels confirming overt disease. Thyroid receptor antibodies (TRAb) are critical for diagnosing autoimmune hyperthyroidism and predicting relapse risk. Iodine scintigraphy is utilized in specific cases, such as suspected toxic adenoma or multinodular goiter. Management strategies include beta-blockers for symptomatic relief, though side effects such as bradycardia and fatigue may occur. Antithyroid medications, including methimazole and propylthiouracil, inhibit hormone synthesis, with remission more likely in patients with low TRAb levels and small goiters. Definitive treatments include radioactive iodine therapy (RAI), which effectively reduces thyroid activity but often results in hypothyroidism, and thyroidectomy, a surgical option for large goiters or malignancy, with potential complications like hypocalcemia and recurrent laryngeal nerve injury. Conclusions: The management of hyperthyroidism necessitates a personalized approach integrating diagnostic precision, emerging innovations, and patient-centered care. Full article

Immunocompromised patients with hematologic diseases may experience life-threatening infections with rather uncommon manifestations. Laryngitis has been described as a potential infection in such vulnerable patients and may result in major complications, ranging from impending airway obstruction to total laryngeal necrosis. Immediate laryngoscopy is of paramount importance, as it provides quantification of laryngeal edema and evidence of necrosis. Documentation of the causative pathogen is usually feasible through tissue culture. In the literature, 14 cases of necrotizing laryngitis have already been published. Here, we present the case of a 38-year-old male with a recent diagnosis of multiple myeloma, who received the first cycle of therapy a few days before admission. The patient presented with neutropenic fever, diarrhea, and multiple organ dysfunction. His course was complicated with hemophagocytic lymphohistiocytosis and stridor. A diagnosis of necrotizing laryngitis attributed to Acinetobacter baumannii invasion of the larynx was established. This manuscript highlights that the management of patients with hematologic disease and necrotizing laryngitis should be coordinated in highly specialized centers and clinicians should have a high level of clinical suspicion and act promptly. Full article

Dysfunctional breathing (DB) describes a respiratory condition that is mainly characterized by abnormal breathing patterns, affecting both children and adults, often leading to intermittent or chronic complaints and influencing physiological, psychological, and social aspects. Some symptoms include breathlessness; dizziness; palpitations; and anxiety, while its classification lies in breathing pattern disorders and upper airway involvement. Its prevalence among the pediatric population varies with a female overrepresentation, while the existence of comorbidities in DB, such as asthma, gastro-esophageal reflux, nasal diseases, and anxiety/depression, frequently leads to misdiagnosis or underdiagnosis and complicates therapeutic approaches. The basic diagnostic tools involve a detailed history, physical examination, and procedures such as structured light plethysmography, cardiopulmonary exercise testing, and laryngoscopy when a laryngeal obstruction is present. The management of DB presumes a multidimensional approach encompassing breathing retraining, disease-specific advice through speech and language therapy in the presence of laryngeal obstruction, psychotherapy for fostering self-efficacy, and surgical therapy in a structural abnormality. The current review was developed to provide a summary of classifications of DB and epidemiological data concerning the pediatric population, comorbidities, diagnostic tools, and therapeutic approaches to enhance the comprehension and management of DB in children. Full article

Tracheostomy decannulation leaves an iatrogenic passage in the upper airways. Inadequate sealing leads to pulmonary dysfunction and reduced voice quality. This study aimed to investigate the feasibility and impact of intratracheal tracheostomy sealing on laryngeal airflow and voice quality immediately after decannulation (ClinicalTrials.gov: NCT06138093). Fifteen adult, tracheostomized, intensive care unit patients were included from our hospital. A temporary, silicone-based sealing disc was inserted in the tracheostomy wound immediately after decannulation. Spirometry with measurement of forced vital capacity (FVC), forced expiratory volume in the first second (FEV₁), and peak expiratory flow (PEF) were performed as measures of airway flow. Voice recordings were assessed using an equal appearing interval scale from 1 to 5. Median FVC, FEV₁, PEF, and voice quality score with interquartile range (IQR) was 883 (510–1910) vs. 1260 (1005–1723) mL (p < 0.001), 790 (465–1255) vs. 870 (617–1297) mL (p < 0.001), 103 (55–211) vs. 107 (62–173) mL (p = 0.720), and 2 (1–2.5) vs. 4 (3–5) points (p < 0.001), respectively, with open tracheostomy vs. after sealing the tracheostomy with the intratracheal sealing disc. This feasibility study showed that tracheostomy sealing with the intratracheal disc was safe and led to immediate improvements in FVC, FEV₁, and voice quality. Full article

Patients with neurodegenerative disorders (NDDs) often experience functional dysphagia, which may involve dysfunction in a specific phase of swallowing or in the entire process. This review outlines the approach to dysphagia in the setting of NDDs. Distinguishing the etiology of dysphagia can be difficult, and it is important to always look out for signs pointing to NDD as the cause. Thorough diagnostic work-up is essential, and it includes a comprehensive history and physical examination, alongside swallowing function tests, such as fiberoptic endoscopic evaluation of swallowing, videofluoroscopic swallowing study, and high-resolution manometry. Management requires a multidisciplinary approach with a treatment plan tailored to each patient. This involves dietary guidance, swallowing rehabilitation, and surgery in cases in which improvement with rehabilitation is inadequate. Surgery may involve altering certain pharyngolaryngeal structures to facilitate swallowing and reduce the risk of aspiration (swallowing improvement surgery) or separating the airway and digestive tract while sacrificing laryngeal function, with the main goal of preventing aspiration (aspiration prevention surgery). Proper management stems from recognizing the impact of these disorders on swallowing and consistently finding ways to improve the quality of life of patients. Full article

Changes in pharyngeal and upper-esophageal-sphincter (UES) motor dynamics contribute to swallowing dysfunction. Children with type 1 laryngeal clefts can present with swallowing dysfunction and associated symptoms which may persist even after the initial endoscopic intervention. This study sought to characterize pharyngeal and esophageal motor function in children with type 1 laryngeal clefts who had persistent presenting symptoms after their initial therapeutic intervention. We retrospectively analyzed high-resolution esophageal manometry studies of children ≤ 18 years old with type 1 laryngeal clefts who had an esophageal manometry study performed for persistent symptoms after an initial repair. A total of 16 children were found to have significantly increased UES resting pressure, UES pre- and post-swallow maximum pressures, and duration of UES contraction during swallows in comparison to nine age-matched controls of children without pharyngeal anatomical abnormalities. There was no difference between UES residual pressures or pharyngeal dynamics between the two groups. UES resting and residual pressures did not correlate with VFFS in penetration and aspiration scores of children with type 1 laryngeal clefts status post repair. Our study is the first to identify specific changes in UES motor function in patients with type 1 laryngeal cleft post initial repair. Full article

Surgical access to the cervicothoracic junction (CTJ) is challenging. The aim of this study was to assess technical feasibility, early morbidity, and outcome in patients undergoing anterior access to the CTJ via partial sternotomy. Consecutive cases with CTJ pathology treated via anterior access and partial sternotomy at a single academic center from 2017 to 2022 were retrospectively reviewed. Clinical data, perioperative imaging, and outcome were assessed with regards to the aims of the study. A total of eight cases were analyzed: four (50%) bone metastases, one (12.5%) traumatic instable fracture (B3-AO-Fracture), one (12.5%) thoracic disc herniation with spinal cord compression, and two (25%) infectious pathologic fractures from tuberculosis and spondylodiscitis. The median age was 49.9 years (range: 22–74 y), with a 75% male preponderance. The median Spinal Instability Neoplastic Score (SINS) was 14.5 (IQR: 5; range: 9–16), indicating a high degree of instability in treated cases. Four cases (50%) underwent additional posterior instrumentation. All surgical procedures were performed uneventfully, with no intraoperative complications. The median length of hospital stay was 11.5 days (IQR: 9; range: 6–20), including a median of 1 day in an intensive care unit (ICU). Two cases developed postoperative dysphagia related to stretching and temporary dysfunction of the recurrent laryngeal nerve. Both cases completely recovered at 3 months follow-up. No in-hospital mortality was observed. The radiological outcome was unremarkable in all cases, with no case of implant failure. One case died due to the underlying disease during follow-up. The median follow-up was 2.6 months (IQR: 23.8; range: 1–45.7 months). Our series indicates that the anterior approach to the cervicothoracic junction and upper thoracic spine via partial sternotomy can be considered an effective option for treatment of anterior spinal pathologies, exhibiting a reasonable safety profile. Careful case selection is essential to adequately balance clinical benefits and surgical invasiveness for these procedures. Full article

A large multi-institutional case series of laryngeal cancer (LC) T4a was carried out, including 134 cases treated with open partial horizontal laryngectomies (OPHL) +/− post-operative radiation therapy (PORT). The goal was to understand better whether OPHL can be included among the viable options in selected pT4a LC patients who refuse a standard approach, represented by total laryngectomy (TL) + PORT. All 134 patients underwent OPHL type I (supraglottic), II (supracricoid), or III (supratracheal), according to the European Laryngological Society Classification. Comparing clinical and pathological stages showed pT up-staging in 105 cases (78.4%) and pN up-staging in 19 patients (11.4%). Five-year data on overall survival, disease-specific survival, disease-free survival, freedom from laryngectomy, and laryngo-esophageal dysfunction-free survival (rate of patients surviving without a local recurrence or requiring total laryngectomy and without a feeding tube or a tracheostomy) were, respectively, 82.1%, 89.8%, 75.7%, 89.7%, and 78.3%. Overall, complications were observed in 22 cases (16.4%). Sequelae were observed in 28 patients (20.9%). No patients died during the postoperative period. This large series highlights the good onco-functional results of low-volume pT4a laryngeal tumors, with minimal or absent cartilage destruction, treated with OPHLs. The level of standardization of the indication for OPHL should allow consideration of OPHL as a valid therapeutic option in cases where the patient refuses total laryngectomy or non-surgical protocols with concomitant chemo-radiotherapy. Full article

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach. Full article

Intraoperative neuromonitoring (IONM) of the recurrent laryngeal nerve (RLN) has been shown in adults to minimize nerve palsy after thyroid surgery, but only few studies on its efficacy in a pediatric population have been reported. We conducted a retrospective study on patients operated for thyroid lesions from 2016 to 2022. The analyzed population was divided in two groups: patients treated from 2016 to 2020, when the identification of the RLN was performed without IONM (Group A); and patients treated since 2021, when IONM was implemented in every surgical procedure on the thyroid (Group B). Intraoperative Neurophysiological Monitoring was performed by using corticobulbar motor-evoked potentials and continuous electromyography. Twentyfive children underwent thyroid resection, 19 (76%) of which due to thyroid carcinoma. Each patient’s recurrent nerve was identified; IONM was used in 13 patients. In Group A, one temporary nerve palsy was identified postoperatively (8.3%), while in group B one nerve dysfunction occurred (7.7%). No statistically significant difference was found between the two groups in terms of post-operative RLN palsy. No surgical complication due to the use of IONM was reported. In children and teenagers, intraoperative neuromonitoring of the recurrent laryngeal nerve is a safe and accurate method, minimizing the risk of nerve damage. Full article

In this cross-sectional study, we compared voice tone and activities relating to the laryngeal muscle between unilateral vocal fold paralysis (UVFP) patients with and without cricothyroid (CT) muscle dysfunction to define how CT dysfunction affects language tone. Eighty-eight female surgery-related UVFP patients were recruited and received acoustic voice analysis and laryngeal electromyography (LEMG) when the patient was producing the four Mandarin tones. The statistical analysis was compared between UVFP patients with (CT+ group, 17 patients) and without CT muscle (CT− group, 71 patients) involvement. When producing Mandarin Tone 2, the voice tone in the CT+ group had smaller rise range (p = 0.007), lower rise rate (p = 0.002), and lower fundamental frequency (F0) at the offset point of the voice (p = 0.023). When producing Mandarin Tone 4, the voice tone in the CT+ group had smaller drop range (p = 0.019), lower drop rate (p = 0.005), and lower F0 at voice onset (p = 0.025). The CT+ group had significantly lower CT muscle activity when producing the four Mandarin tones. In conclusion, CT dysfunction causes a limitation of high-rising tone in Tone 2 and high-falling tone in Tone 4, a property that dramatically limits the tonal characteristics in Mandarin, a tonal language. This limitation could further impair the patient’s communication ability. Full article

The aim of this study was to evaluate the diagnostic accuracy of a neuromonitoring protocol—the Abu Dhabi Neural Mapping protocol (ADNM)—using a new device, Nim-Vital™, during minimally invasive thyroidectomy in the early identification of non-recurrent laryngeal nerve (n-RLN) problems and the preservation of its function. Method: Patients with thyroid disorders that required thyroid resection, who were admitted to the Department of Surgery at Burjeel Hospital, Abu Dhabi, between January and July 2022, were included in the study. The data were extracted from a prospective database and were analyzed retrospectively. All nerves at risk were identified and exposed at seven precisely defined anatomical points, with strict adherence to the intraoperative technical steps of neuromonitoring. These were sequentially applied to the vagal nerve (VN), the superior laryngeal nerve (SLN), and the recurrent laryngeal nerve (RLN). In the next step after the creation of the skin-platysma flap, the strap muscle’s lateral border was moved from the medial limb of the sternocleidomastoid without using any electrical device and without any manipulation of the thyroid gland. The VN was exposed in the carotid sheath and then stimulated using a monopolar probe at a precisely defined point above the clavicle, using anatomical landmarks. Results: In total, 136 women with a mean age of 40 years (range 18–74) and 36 men with a mean age of 42 (range 21–66), demonstrating 270 nerves at risk, were included in the analysis. Indications for surgery were malignancy in 70 cases, toxic goiter/Graves in 23 cases, retrosternal goiter in 21, and symptomatic multinodular goiter in 64 cases. Of these, 100 patients received a total thyroidectomy, 46 received a right lobectomy, and 24 received a left lobectomy only. For a total thyroidectomy, the median skin-to-skin surgery duration was 52 min (range 24–104 min) and the median hospital stay was 2 days (range 1–4 days). In 4 cases (4/146; 2.74%) the pre-dissection stimulation of the vagal nerve (VN1) at the ADNM’s precisely defined point did not create any signal or proper EMG-curve that indicated the existence of the non-RLN. Proximal dissection of the right VN at a precisely defined point by the ADNM’s level of incisura of the larynx created a positive signal. The separation point of the right non-RLN from the VN was discovered in all four patients. The postoperative video-laryngoscopy confirmed bilateral mobile vocal cords in all cases. Conclusions: Following the ADNM protocol during thyroid surgery minimizes the risk of a non-laryngeal nerve injury and prevents voice dysfunction. Full article

Objective: To investigate post-acute laryngeal injuries and dysfunctions (PLID) in coronavirus disease 2019 (COVID-19) patients. Methods: Three independent investigators performed a systematic review of the literature studying PLID in patients with a history of COVID-19. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement. Epidemiological, clinical, hospitalization features, laryngeal diseases, and voice outcomes were extracted from the included papers. Results: Eight papers met our inclusion criteria (393 patients) corresponding to five uncontrolled prospective and three retrospective studies. The most prevalent PLID were vocal fold dysmotility (65%), vocal fold edema (35%), muscle tension dysphonia (21%), and laryngopharyngeal reflux (24%). Posterior glottic stenosis (12%), granuloma (14%), and posterior glottic diastasis (12%) were the most common injuries. Most patients with PLID were obese and had a history of intensive care unit hospitalization, and orotracheal intubation. The delay between the discharge and the laryngology office consultation ranged from 51 to 122 days. The mean duration of intubation ranged from 10 to 34 days. Seventy-eight (49%) intubated patients were in the prone position. The proportion of patients requiring surgical treatment ranged from 39% to 70% (mean = 48%). There was an important heterogeneity between studies about inclusion, exclusion criteria, and outcomes. Conclusions: COVID-19 appeared to be associated with PLID, especially in patients with a history of intubation. However, future controlled studies are needed to evaluate if intubated COVID-19 patients reported more frequently PLID than patients who were intubated for other conditions. Full article