Hearing loss in beta-thalassaemia: An Italian multicentre case-control study.

BACKGROUND: Despite numerous studies, the true scenario of hearing loss in beta-thalassaemia remains rather nebulous. MATERIALS AND METHODS: Pure tone audiometry, chelation therapy, demographics and laboratory data of 376 patients (mean age 38.5 ± 16.6 years, 204 females, 66 non-transfusion-dependent) and 139 healthy controls (mean age 37.6 ± 17.7 years, 81 females) were collected. RESULTS: Patient and control groups did not differ for age (p = 0.59) or sex (p = 0.44). Hypoacusis rate was higher in patients (26.6% vs. 7.2%; p < 0.00001), correlated with male sex (32.6% in males vs. 21.8% in females; p = 0.01) and it was sensorineural in 79/100. Hypoacusis rate correlated with increasing age (p = 0.0006) but not with phenotype (13/66 non-transfusion-dependent vs. 87/310 transfusion-dependent patients; p = 0.16). Sensorineural-notch prevalence rate did not differ between patients (11.4%) and controls (12.2%); it correlated with age (p = 0.01) but not with patients' sex or phenotype. Among adult patients without chelation therapy, the sensorineural hypoacusis rate was non-significantly lower compared to chelation-treated patients while it was significantly higher compared to controls (p = 0.003). CONCLUSIONS: Sensorineural hypoacusis rate is high in beta-thalassaemia (about 21%) and it increases with age and in males while disease severity or chelation treatment seems to be less relevant. The meaning of sensorineural-notch in beta-thalassaemia appears questionable.

Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N-sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53-year-old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss. Clinical exome sequencing identified biallelic missense variants in SGSH, and biochemical assays showed complete deficiency of sulfamidase activity and increased urinary glycosaminoglycan excretion. Reverse phenotyping revealed left ventricle pseudo-hypertrophy, hepatosplenomegaly, bilateral deep white matter hyperintensities upon brain MRI, and decreased cortical metabolic activity by PET-CT. On neuropsychological testing, the proband presented only partial and isolated verbal memory deficits. This case illustrates the power of unbiased, comprehensive genetic testing for the diagnosis of challenging mild or atypical forms of MPS IIIA.

Perceptual, aerodynamic and acoustic outcomes of surgical technique for sulcus vocalis patients: A systematic review and meta analysis.

BACKGROUND: Sulcus Vocalis (SV) is a voice disorder characterized by the parallel invagination of the vocal fold epithelium that adheres to the vocal ligament. This condition disrupts the vibratory function, leading to glottal incompetence, hoarseness, and vocal impairment. Despite various proposed surgical techniques, a standardized treatment approach remains elusive. METHODS: We conducted a comprehensive search across PubMed/Medline, Embase, Web of Science, Scholar, and the Cochrane Library for studies on SV treatment. The inclusion criteria comprised original studies comparing pre- and post-treatment vocal outcomes in SV patients, published in English. We excluded case reports, reviews, studies without continuous data, and patients with vocal scar/atrophy. RESULTS: Fifteen observational studies were included (361 patients, 53.73 % male, average age 41.64 years). 80 % of these studies employed self-reported outcomes, while 81.25 % analyzed acoustic/aerodynamic data. The follow-up period varied from 4 to 44 months. All techniques significantly improved Voice Handicap Index (VHI) scores (p < 0.001). Dissective and combined techniques exhibited greater reductions in VHI-30/10 (p < 0.001). Maximum Phonation Time (MPT) improved significantly across all techniques (p < 0.001), with dissective techniques demonstrating superior MPT outcomes (p < 0.001). Jitter improved significantly for dissective and injective techniques (p < 0.001), as did Shimmer for all techniques (p < 0.001). Notably, combined techniques displayed the most significant reductions (p < 0.001). CONCLUSIONS: Surgical treatments significantly improve subjective, aerodynamic, and acoustic outcomes in SV patients. Dissective and combined dissective/injective techniques appear to yield better perceptual and phonatory outcomes compared to injective techniques alone. Further research is necessary to establish the optimal treatment approach for SV.

Italian Speech-Language Pathologists and Telerehabilitation for Voice Disorders: A Survey on Satisfaction, Effectiveness, Limits, and Future Prospects.

Introduction: The aim of this study was to evaluate the distribution of virtual voice therapy during the coronavirus disease 2019 (COVID-19) lockdown in Italy via the collection of opinions of speech-language pathologists (SLPs). Methods: All SLPs who regularly carried out their professional activity in public hospitals, private hospitals, or private practices in Italy were asked to fill out an online survey consisting of two sections: (1) demographic information (age, gender, work setting, seniority, working time, and regular use of virtual voice therapy) and (2) opinions regarding telerehabilitation (motivation, personal satisfaction, effectiveness, and future needs and uses). Results: A total of 299 SLPs (mean age 39.1 ± 12.4 years) completed the survey. Overall, a regular use of virtual voice therapy was declared by 31.1% (93/299) of SLPs, with the highest prevalence for SLPs working in fully private facilities (46.7%; p < 0.001). Among all respondents, 25.4% had a highly positive opinion on the possible use of virtual voice therapy, even in nonemergency situations, and 55.8% planned to maintain this rehabilitation modality in the future. Discussion: Italian SLPs, regardless of age, had a positive impact with the new telerehabilitation practices. Investments in training and updating SLPs through specific courses would help to break down the strong barriers to telepractice acceptance, such as lack of familiarity with new technologies and lack of adequate preparation. Virtual voice therapy, which had never been experienced in such a way in Italy before the COVID-19 pandemic, promises to be a valuable future addition to the current traditional rehabilitation approaches.

Evaluation of tinnitus in patients with Temporomandibular Disorders through Axis II of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) and the Tinnitus Handicap Inventory (THI).

BACKGROUND: Tinnitus is a quite common and bothersome disorder that results in a perceived sound or noise, without an external origin, often causing notable psychological distress. Some interconnections between tinnitus, bodily pain perception, and psychological well-being were previously reported, thus the relationships between tinnitus and temporomandibular joint (TMJ)-related muscle issues, resulting in somatosensory tinnitus, must be deeply investigated. This study aims to assess the prevalence of tinnitus in patients with temporomandibular disorders (TMD) and to examine the correlation between tinnitus and scales assessing the severity of TMD as well as psychological-related parameters. MATERIALS AND METHODS: In this cross-sectional study, a total of 37 adults with TMD symptoms were enrolled. Diagnostic data were collected using the Axis II of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) and the Tinnitus Handicap Inventory (THI) questionnaire. Statistical analysis included descriptive assessments and significance was set at p < .05. RESULTS: Individuals with tinnitus and TMD reported a significantly higher number of body pain areas, indicating a link between tinnitus and increased bodily pain perception. Tinnitus did not significantly impact TMJ-related functions. Significantly higher levels of psychological distress were observed in individuals with tinnitus, as evidenced by elevated scores in depression, generalised anxiety and somatic symptoms. CONCLUSION: Tinnitus is a complex condition with significant effects on health and well-being, requiring an interdisciplinary approach for effective evaluation and care. The study provides deep insights into the prevalence of tinnitus in TMD patients, underscoring the need for comprehensive treatment strategies addressing both TMD and tinnitus.

The Revised Reflux Symptom Index (R-RSI): Development, Internal and External Validation Study.

INTRODUCTION: This study proposes a revised version of the Reflux Symptom Index (R-RSI), a seventeen-item questionnaire that was revised to increase the suspicion of laryngopharyngeal reflux disease (LPRD). METHODS: Internal validation involved 213 participants, comprising 160 subjects without a previous LPRD diagnosis and 53 subjects with a self-reported previous diagnosis of LPRD with or without gastroesophageal reflux disease (GERD). Test-retest reliability and internal consistency were calculated. For the external validation, 56 patients (independent from the previous cohort) were enrolled to explore the R-RSI screening properties and determine a cutoff using 24-h MII-pH as the gold standard. RESULTS: R-RSI test-retest reliability was high, both for the total score (ICC: 0.970) and for each item (ranging from 0.876 to 0.980). Cronbach's alpha was 0.910, indicating excellent internal consistency of the questionnaire. Participants with a previous self-reported diagnosis scored significantly higher (mean 24.94 ± 7.4; median 26, IQR 20-29) than those without a previous diagnosis (mean 4.66 ± 5.3; median 4, IQR 1-6) (p value <0.0001). Participants with both previous LPRD and GERD diagnoses had higher scores (27.20 ± 7.8) compared to those with only LPRD (21.77 ± 5.5) (p value = 0.003). Using 24-h MII-pH diagnosis as a gold standard, the optimal R-RSI cutoff point was determined to be 18, with a sensitivity of 84.5% and a specificity of 81.8%, positive predictive value of 95%, and negative predictive value of 60%. CONCLUSIONS: Our results suggest that the R-RSI may be useful to suspect LPRD, with or without GERD. The R-RSI is a self-administered patient-reported outcome questionnaire that demonstrates excellent reliability and high screening properties. Employing a cutoff of ≥18 in the R-RSI can assist in diagnosing and monitoring LPRD.

Development of a New Self-Assessment Tool for Laryngopharyngeal Reflux Screening in Singers (SVHI-12-LPR).

INTRODUCTION: The present study aimed to develop a new tool for the evaluation of singers with self-reported symptoms suggestive of laryngopharyngeal reflux (LPR) (the SVHI-12-LPR), by correlating RSI with SVHI in a population sample of 163 subjects (both professional and amateur singers), evaluated also by videolaryngostroboscopy. This study was a cross-sectional, double-observational study. METHODS: RSI and SVHI were administered to 159 singers (amateurs, singing students, and professional singers). All subjects underwent videolaryngostroboscopy to objectively identify four subgroups: normal subjects (41.5%), subjects with organic lesions occupying the glottic space (17.6%), subjects with functional dysphonia (18.2%), and subjects presenting solely signs suggestive of LPR (22.6%). Using the validated RSI threshold, 33.9% of participants presented an RSI total score >13, suggestive of LPR. RESULTS: Subjects with a suspected diagnosis of LPR at videolaryngostroboscopy presented a mean RSI significantly higher than other subgroups (p < 0.001). Moreover, the SVHI-36 score did not statistically differ between pathological subgroups. A significant positive relationship was observed between RSI and SVHI total score (Spearman's rank correlation coefficient [ρ] = 0.474, p < 0.001). 12 SVHI items (items 1, 2, 4, 5, 6, 7, 12, 20, 24, 25, 26, 30) showed a significant association with RSI pathology classification. Statistical analysis demonstrated for the 12 selected items (SVHI-12-LPR) acceptable specificity (0.691) and sensibility (0.833) for the suspected diagnosis of LPR with a cut-off of 15. CONCLUSIONS: From the SVHI-36, 12 items were extracted that correlated with the specific impact that LPR has on the singer's voice (SVHI-12-LPR), as evaluated by RSI and videolaryngostroboscopy. Such questionnaire represents a new tool that could be applied to singers with symptoms suggestive of LPR to select which patients would benefit from a further phoniatric and videolaryngostroboscopic evaluation.

A structural equation model to examine the clinical features of mild-to-moderate COVID-19: A multicenter Italian study.

The purpose of this study was to evaluate the clinical features of mild-to-moderate coronavirus disease 2019 (COVID-19) in a sample of Italian patients and to investigate the occurrence of smell and taste disorders. Infected individuals with suspected (clinical diagnosis) or laboratory-confirmed COVID-19 infection were recruited. Patients completed a survey-based questionnaire with the aim of assessing their epidemiological and clinical characteristics, general otorhinolaryngological symptoms, and smell and taste disorders. A total of 294 patients with mild-to-moderate COVID-19 completed the survey (147 females). The most prevalent general symptoms included fever, myalgia, cough, and headache. A total of 70.4% and 59.2% of patients reported smell and taste disorders, respectively. A significant association between the two above-mentioned disorders was found (rs: 0.412; P < .001). Smell disorders occurred before the other symptoms in 11.6% of patients and was not significantly associated with nasal obstruction or rhinorrhea. Interestingly, our statistical analysis did not show any significant difference, either for general symptoms or otorhinolaryngological features, between the clinical diagnosis group and the laboratory-confirmed diagnosis (polymerase chain reaction) group. The structural equation model confirmed significant standardized paths (P < .05) between general symptoms, comorbidities, and general otorhinolaryngological complaints in the absence of a significant correlation between these elements and smell and taste alterations. The prevalence of smell and taste disorders in mild-to-moderate Italian COVID-19 patients is significant both in suspected and laboratory-confirmed cases and reveals a strong correlation between these clinical signs regardless of the presence of general or otorhinolaryngological symptoms, such as nasal obstruction or rhinorrhea.

Sleep medicine in otolaryngology units: an international survey.

PURPOSE: No study to date has described the overall landscape of sleep disorders management and training in otolaryngology departments of different countries. The aim of our study was to investigate and compare settings, diagnostic and therapeutic approaches and training programmes. METHODS: An international online survey was developed with the collaboration of the YO-IFOS (Young Otolaryngologists-International Federation of Otorhinolaryngological Societies) to assess the current practice of otolaryngologists in the management of sleep disorders. The survey also included a session dedicated to training. RESULTS: A total of 126 otolaryngologists completed the survey. The larger part of responses was collected from Central/South America and Europe. The majority of responders from South/Central America (97%) declared to be certified as sleep specialist while 49% of Europeans stated the opposite. Of responders 83% perform a drug-induced sleep endoscopy (DISE) before planning a possible surgical intervention. Soft palate and base of tongue interventions were the most common procedure, respectively performed in 94% and 79% of the cases. Residents were allowed to perform soft palate surgery in 77% of the cases. Upper airway stimulation (26% vs 10%), trans-oral robotic surgery (36% vs 11%) and radiofrequency of the base of the tongue (58% vs 25%) were preferred more frequently by European responders. The highest caseloads of soft palate surgery and bi-maxillary advancement were registered in the academic institutions. CONCLUSION: Significant concordance and few interesting divergences in diagnosis and treatment of sleep disorders were observed between nationalities and types of institution. Economic resources might have played a significant role in the therapeutic choice. Trainees' lack of exposure to certain interventions and to a sufficient caseload appeared to be the main burden to overcome.

Olfactory and gustatory dysfunctions as a clinical presentation of mild-to-moderate forms of the coronavirus disease (COVID-19): a multicenter European study.

OBJECTIVE: To investigate the occurrence of olfactory and gustatory dysfunctions in patients with laboratory-confirmed COVID-19 infection. METHODS: Patients with laboratory-confirmed COVID-19 infection were recruited from 12 European hospitals. The following epidemiological and clinical outcomes have been studied: age, sex, ethnicity, comorbidities, and general and otolaryngological symptoms. Patients completed olfactory and gustatory questionnaires based on the smell and taste component of the National Health and Nutrition Examination Survey, and the short version of the Questionnaire of Olfactory Disorders-Negative Statements (sQOD-NS). RESULTS: A total of 417 mild-to-moderate COVID-19 patients completed the study (263 females). The most prevalent general symptoms consisted of cough, myalgia, and loss of appetite. Face pain and nasal obstruction were the most disease-related otolaryngological symptoms. 85.6% and 88.0% of patients reported olfactory and gustatory dysfunctions, respectively. There was a significant association between both disorders (p < 0.001). Olfactory dysfunction (OD) appeared before the other symptoms in 11.8% of cases. The sQO-NS scores were significantly lower in patients with anosmia compared with normosmic or hyposmic individuals (p = 0.001). Among the 18.2% of patients without nasal obstruction or rhinorrhea, 79.7% were hyposmic or anosmic. The early olfactory recovery rate was 44.0%. Females were significantly more affected by olfactory and gustatory dysfunctions than males (p = 0.001). CONCLUSION: Olfactory and gustatory disorders are prevalent symptoms in European COVID-19 patients, who may not have nasal symptoms. The sudden anosmia or ageusia need to be recognized by the international scientific community as important symptoms of the COVID-19 infection.

Development of scores assessing the refluxogenic potential of diet of patients with laryngopharyngeal reflux.

OBJECTIVE: To develop clinical tools assessing the refluxogenic potential of foods and beverages (F&B) consumed by patients with laryngopharyngeal reflux (LPR). METHODS: European experts of the LPR Study group of the Young-Otolaryngologists of the International Federation of Oto-rhino-laryngological societies were invited to identify the components of Western European F&B that would be associated with the development of LPR. Based on the list generated by experts, four authors conducted a systematic review to identify the F&B involved in the development of esophageal sphincter and motility dysfunctions, both mechanisms involved in the development of gastroesophageal reflux disease and LPR. Regarding the F&B components and the characteristics identified as important in the development of reflux, experts developed three rational scores for the assessment of the refluxogenic potential of F&B, a dish, or the overall diet of the patient. RESULTS: Twenty-six European experts participated to the study and identified the following components of F&B as important in the development of LPR: pH; lipid, carbohydrate, protein composition; fiber composition of vegetables; alcohol degree; caffeine/theine composition; and high osmolality of beverage. A total of 72 relevant studies have contributed to identifying the Western European F&B that are highly susceptible to be involved in the development of reflux. The F&B characteristics were considered for developing a Refluxogenic Diet Score (REDS), allowing a categorization of F&B into five categories ranging from 1 (low refluxogenic F&B) to 5 (high refluxogenic F&B). From REDS, experts developed the Refluxogenic Score of a Dish (RESDI) and the Global Refluxogenic Diet Score (GRES), which allow the assessment of the refluxogenic potential of dish and the overall diet of the LPR patient, respectively. CONCLUSION: REDS, RESDI and GRES are proposed as objective scores for assessing the refluxogenic potential of F&B composing a dish or the overall diet of LPR patients. Future studies are needed to study the correlation between these scores and the development of LPR according to impedance-pH study.

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.

The Relationship between Socioeconomic Status and Narrative Abilities in a Group of Italian Normally Developing Children.

OBJECTIVE: Only limited and conflicting information is available regarding the relationship between socioeconomic status (SES) and narrative abilities. Besides, the role fathers' SES plays in the development of their children's narrative abilities has never been investigated. The aim of this study was to analyze the relationship between fathers' and mothers' SES and narrative abilities of their children assessed with the Italian version of the Bus Story Test (I-BST). SUBJECTS AND METHODS: A total of 505 normally developing Italian children were enrolled in the study. Information regarding parents' educational level and employment was collected for each child. Narrative abilities were evaluated using the I-BST. The relationships between parents' employment, educational level, and I-BST scores were analyzed by univariate and multivariate regression analysis. RESULTS: In univariate analysis, both fathers' and mothers' education and employment were associated with most I-BST subscale scores, especially when higher educational and employment levels were contrasted with the lowest educational and employment levels. In multiple regression analysis, significant associations were found only between the fathers' working status and educational level and I-BST subscale scores. CONCLUSIONS: Parental education and employment might impact narrative abilities of children. When both fathers' and mothers' SES variables are considered together, only fathers' education and working status seemed to be associated with I-BST scores.

Complications with Fiberoptic Endoscopic Evaluation of Swallowing in 2,820 Examinations.

OBJECTIVE: To perform a retrospective evaluation of the incidence of complications and adverse events during fiberoptic endoscopic evaluation of swallowing (FEES) in 2,820 examinations. PATIENTS AND METHODS: Subjects included in- and outpatients at Pisa University Hospital referred for FEES by other physicians due to dysphagia symptoms. Neurologic diseases were the most commonly diagnosed conditions in the patients tested (48.3%). Informed consent was obtained from all subjects. RESULTS: Our study showed minor side effects (discomfort, occasional gagging and vomiting) and a few complications [three cases of anterior epistaxis (0.1%), one case of posterior epistaxis (0.04%), three cases of vasovagal syncope (0.1%) and two cases of laryngospasm (0.07%)]. These cases of laryngospasm occurred in patients with amyotrophic lateral sclerosis (ALS) and spontaneously resolved after some difficulty. CONCLUSIONS: Our study confirms the published data regarding the safety of FEES and the incidence of complications with this procedure, but also highlights that in neurologic patients with neurodegenerative diseases such as ALS, laryngospasm is more likely to occur as a severe complication. The overall risk of FEES is minimal, but it is recommended that clinicians be well trained in recognising the signs and symptoms of adverse reactions and be ready to take appropriate action if these occur.

Earliest videofluoromanometric pharyngeal signs of dysphagia in ALS patients.

The aim of this study was to find whether there are manometric pharyngeal changes that may have diagnostic and prognostic relevance in the amyotrophic lateral sclerosis (ALS) patient who does not show changes in contrast-medium oropharyngeal transit in a videofluoroscopic swallowing study. Ten ALS patients, with an ALS Severity Scale Score of at least 7, no need to change dietary habit, no aspiration and/or penetration, and no other changes in contrast-medium oropharyngeal transit, were collected from our institution's database of videofluoromanometric swallowing studies. They were included in the study together with a group of 11 healthy volunteers. For each subject, 12 manometric items-7 for the pharyngeal phase and 5 for UES functionality-were evaluated. Statistically significant differences between the ALS patients and the healthy volunteers were found for pharyngeal contraction time of the upper region (median = 1,120, range = 880-1,420 vs. median = 970, range = 800-1,140), pharyngeal contraction time of the intermediate region (median = 1140, range = 960-1,360 vs. median = 770, range = 280-1,180), pharyngeal contraction time of the lower region (median = 1,320, range = 920-1,760 vs. median = 800, range = 620-1,780), and residual pressure after the relaxation of the UES (median = 2.2, range = -20.2 to 27.8 vs. median = -5.7, range = -2.9 to 8.4). A videofluoromanometric swallowing study may show an increase in the pharyngeal contraction time and in residual pressure after relaxation of the UES in ALS patients without videofluoroscopic changes in contrast-medium oropharyngeal transit.