Laryngeal features in Lipoid proteinosis: a systematic review and meta-analysis of individual participant data.

PURPOSE: Lipoid proteinosis (LP) or Urbach-Wiethe disease (OMIM 247100) is a rare syndrome characterised by early vocal folds infiltration and subsequent multi-organ involvement. LP is often unrecognised and its associated hoarseness is overlooked. The main objective of the study was to investigate hoarseness in LP and implement a diagnosis among otolaryngologists. METHODS: PubMed/MEDLINE and OMIM databases were systematically searched. Authors concentrated the search on published articles starting from the discovery of the pathogenesis of LP by Hamada et al. in 2002. Only cases in which a diagnosis was reported both clinically and through biopsy and/or genetic molecular testing were included. Characteristics of the LP cases were extracted from each included study. Results were obtained through Generalized Estimating Equations. RESULTS: The search strategy yielded 217 articles, of which 74 (34.1%) met the selection criteria. A total of 154 cases were included. Hoarseness was described in all LP cases and clearly stated as the onset symptom in 68.8%. The onset was on average at 19 months of age (CI: 3.00-20.00), while the mean age at diagnosis was 15 years (CI: 10.00-30.00). Therefore, the diagnostic delay amounted to 13.42 years (CI: 8.00-23.83). Hoarseness alone was responsible for an LP diagnosis in only 14.3% of cases. In 43.5% of cases, genetic analysis of the ECM1 gene was performed and exon 6 was the most frequently altered portion. CONCLUSION: Analysing the largest number of published cases, the study underlined that hoarseness is the key symptom for diagnosing LP since early childhood, though frequently overlooked.

Italian validation of the Hearing Handicap Inventory for Elderly - Screening version (HHIE-S-It).

Objective: Validate the Italian version of the Hearing Handicap Inventory for Elderly - Screening version (HHIE-S-It). Methods: After translation, psychometric properties and attributes were analysed by administering the HHIE-S-It to 167 elderly outpatients together with the Psychological General Well-Being Index (PGWBI). Results: The Cronbach's α coefficient was 0.908 for the total score, and 0.832 and 0.816 for its two subscales. Significant test-retest reliability was observed (p < 0.001). Moderate to high correlations were found between HHIE-S-It and pure tone average in the better ear (p < 0.001). The ANOVA test confirmed the significant difference in HHIE-S-It scores across groups according to the degree of hearing loss (p < 0.001). Only very low and low significant correlations were observed between HHIE-S-It and PGWBI. The criterion HHIE-S-It > 11 was observed as the best cut-off with highest sensitivity (86.4%), specificity (72.4%), positive predictive value (52.8%), negative predictive value (93.7%) and likelihood ratios (3.12 and 0.19). Conclusions: Since the HHIE-S-It presented acceptable psychometric properties, its adoption is justified for both clinical and research purposes. Acceptable diagnostic attributes allow its use as a screening tool for age-related hearing loss.

The International Standard Set of Outcome Measures for the Assessment of Hearing in People with Osteogenesis Imperfecta.

OBJECTIVE: The aim is to recommend a minimum standard set of clinician-reported outcome measures (CROMs) and patient-reported outcome measures (PROMs) on hearing for people with osteogenesis imperfecta (OI). This project is part of the larger "Key4OI" project initiated by the "Care4BrittleBones foundation" of which the goal is to improve quality of life of people with OI. Key4OI provides a standard set of outcome measures and covers a large set of domains affecting the well-being of people with OI. METHODS: An international team of experts in OI, comprising specialists in audiological science, medical specialists, and an expert patient representative, used a modified Delphi consensus process to select CROMs and PROMs to evaluate hearing problems in people with OI. In addition, focus groups of people with OI identified key consequences of their hearing loss. These criteria were matched to categories of preselected questionnaires to select a PROM that matched their specific hearing-related concerns best. RESULTS: Consensus on PROMs for adults and CROMs for adults and children was reached. The focus of the CROMs was on specific audiological outcome measures and standardized follow-up. CONCLUSIONS: This project resulted in a clear consensus statement for standardization of hearing-related PROMs and CROMs and follow-up management of patients with OI. This standardization of outcome measurements will facilitate comparability of research and easier international cooperation in OI and hearing loss. Furthermore, it can improve standard of care in people with OI and hearing loss by incorporating the recommendations into care pathways.

Listening comprehension in profoundly deaf children with cochlear implants: the role of auditory perception and foundational linguistic and cognitive skills.

PURPOSE: The aim of the study was to investigate the listening comprehension (LC) skills in deaf and hard of hearing children (DHH) using cochlear implants (CI). Besides, personal and audiological variables that could influence the levels of competence reached were analyzed. METHODS: Thirty-four children using CI were enrolled. LC skills were assessed through the standardized Italian test "Comprensione Orale-Test e Trattamento" (CO-TT). A univariate analysis was conducted to compare LC with gender, listening mode (unilateral or bilateral), maternal level of education and family income. A bivariate analysis was performed to search possible connections between children's performances and their individual characteristics, audiological conditions, and language levels. Finally, a multivariate analysis was performed using a stepwise hierarchical linear regression model which included all variables whose p value resulted ≤ 0.05. RESULTS: Twenty-one children using CI (61.8%) showed adequate performances in terms of chronological age, while 13 (38.2%) showed difficulties in LC. Maternal level of education, age at diagnosis and non-verbal cognitive level accounted for 43% of the observed variance. Auditory attention skills explained an additional 15% of variance. Morphosyntactic comprehension added a further 12% of variance. CONCLUSION: CI can really help many DHH children to reach adequate LC skills, but in some cases difficulties remain. Factors influencing LC need to be early investigated and considered when planning an appropriate rehabilitative intervention.

Progression of Oropharyngeal Dysphagia in Amyotrophic Lateral Sclerosis: A Retrospective Cohort Study.

Little is known regarding the optimal timing of dysphagia assessment and PEG indication in amyotrophic lateral sclerosis (ALS). The study aims to investigate the progression of dysphagia in a cohort of ALS patients and to analyse whether there are variables linked to a faster progression of dysphagia and faster indication of PEG placement. A retrospective cohort study in 108 individuals with ALS. Fiberoptic endoscopic evaluation of swallowing was performed 6 monthly until PEG indication or death. Dysphagia severity and PEG indication were assessed using Penetration Aspiration Scale. Progression Index (PI) analysed the risk of disease progression (fast/slow) in relation to dysphagia onset and PEG indication. Patients were grouped based on ALS onset and PI. Person-time incidence rates were computed considering dysphagia onset and PEG indication from ALS symptoms during the entire observation period and have been reported as monthly and 6-month rates. Cox regression survival analysis assessed dysphagia and PEG risk factors depending on onset. Person-time incidence rates of dysphagia progression and PEG risk were increased based on type of ALS onset and PI. Patients with a fast progressing disease and with bulbar onset (BO) show statistically significant increased risk of dysphagia (BO 178.10% hazard ratio (HR) = 2.781 P < 0.01; fast 181.10% HR 2.811 P < 0.01). Regarding PEG risk, fast patients and patients with BO had a statistically significant increased risk (fast 147.40% HR 2.474 P < 0.01, BO 165.40% HR 2.654 P < 0.01). Fast PI predicts the likelihood of faster progression of dysphagia and PEG indication and should be included in multidisciplinary assessments and considered in the design of future guidelines regarding dysphagia management in ALS patients.Level of Evidence Level IV.