An audiological perspective on ''Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?"

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Epidemiologic, Imaging, Audiologic, Clinical, Surgical, and Prognostic Issues in Common Cavity Deformity: A Narrative Review

Importance:Common cavity deformity is a rare congenital inner ear malformation associated with profound hearing loss and attributed to an early developmental arrest of the cochlear-vestibular structures. This narrative review highlights the need to identify reliable indicators of hearing rehabilitation outcome. Observations:Despite its relatively simple definition, common cavity deformity varies widely in morphologic features, presence of cochlear nerve fibers and remnants of Corti organ, and outcome after cochlear or brainstem implant. Conclusions and Relevance:Cochlear implant has been shown to be a valid option for common cavity deformity, but its outcome remains variable and poor. Identification of specific neuroradiologic, audiologic, and neurophysiologic prognostic features; tailoring of the surgical approach; and standardization of outcome measures are needed to optimize the management of common cavity deformity and hearing rehabilitation after implant

Impianto cocleare in bambini con disturbi dello spettro autistico (DSA): risultati e caratteristiche di fitting.

Scopo dello studio è stato la valutazione a lungo termine delle abilità percettive ed espressive del linguaggio e le caratteristiche del fitting di un gruppo di bambini con ipoacusia grave/profonda, diagnosticati con disturbi dello spettro autistico (DSA), portatori di impianto cocleare (IC). Materiali e metodi: Lo studio osservazionale multicentrico ha incluso 22 bambini con DSA e sordità neurosensoriale profonda. Sono stati raccolti i dati riguardanti la diagnosi di sordità , la diagnosi di DSA, il timing e la compliance all’IC. La percezione uditiva e le abilità linguistiche a 2 anni, 5 anni e 10 anni di follow up sono state riportate utilizzando le Categories of Auditory Performance (CAP) e le Categories of Language (CL). Sono stati inoltre raccolti i parametri elettroacustici dell’IC. Risultati: Il controllo delle abilità percettive ed espressive a lungo termine ha evidenziato un punteggio CAP estremamente variabile. Solo il 22% dei bambini aveva raggiunto un livello equivalente alla comprensione di frasi comuni (CAP 5), o era in grado di sostenere una conversazione (CAP 6) senza la lettura labiale. Nella maggior parte dei bambini (72,7%) il punteggio CL equivaleva all’uso di una vocalizzazione indifferenziata (CL 1) o all’uso di poche parole isolate (CL 2), mentre solo il 18,2% aveva raggiunto il livello più alto di abilità linguistiche. I punteggi di CAP e CL erano significativamente correlati con la gravità dei sintomi di DSA. Le caratteristiche elettroacustiche dell’IC non erano correlate alla soglia uditiva o all’ età all'impianto, mentre erano correlate alla gravità dei DSA. Il 13,6% (3) dei bambini con una forma grave di DSA avevano un utilizzo parziale ed incostante dell’IC. Conclusioni: Il presente studio vuole essere un contributo mirato a fornire una maggiore comprensione dei parametri e delle caratteristiche di fitting che si correlano con la gravità dei disturbi di DSA, tale da supportare le procedure cliniche di regolazione dell'impianto cocleare

Cochlear implantation in children with Autism Spectrum Disorder (ASD): outcomes and implant fitting characteristics

Background: Little is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed with Autism Spectrum Disorder (ASD). The aim of the study was to evaluate a group of ASD CCI users in order to describe their ASD clinical features and CCI outcomes; report on the average electrical charge requirements; and evaluate the possible correlations between electrical and psychophysical outcomes with ASD characteristics. Materials and Methods: A multicentre observational study of 22 ASD children implanted in four cochlear implant (CI) centres. Data concerning profound SHL diagnosis, ASD diagnosis, CI timing and CI compliance were collected. Sound Field (SF) was assessed through repeated behavioural measurements. Categories of Auditory Perception (CAP) and Categories of Language (CL) were used to evaluate speech perception and language skills at short (≤2 yrs), medium (5 yrs) and long term (>10 yrs) follow-up. Fitting parameters such as comfortable thresholds, pulse-width (pw, µsec) and clinical units converted into units of charge/phase were collected. The diagnosis of ASD was acquired by the referral neuropsychiatric department and severity was assessed through the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and the Childhood Autism Rating Scale (CARS). Results: At the final follow-up session the median SF threshold for CI outcomes was 30 dB HL (min 15 – max 60). CAP score was extremely variable: 45.5 % showed no improvement over time and only 22% of children reached CAP scores of 5-7. CL 45.5% showed no improvement over time and score was 1-2 in the majority of ASD children (72.7%), while only 18.2% reached the highest level of language skills. There were no statistically significant differences at each follow-up between subjects with or without comorbidities. CAP and CL were inversely correlated with DSM-V A and B domains, corresponding to lower speech and language scores in children with more severe ASD symptoms, and maintained their correlation at mid and long follow-ups whilst controlling for age at CI. Electrical charge requirements did not correlate with SF or age at implant but did inversely correlate with ASD severity. With regards to CI compliance: only 13.6% children (3) with severe DSM-V A/B levels and CARS score were partial/intermittent users. Conclusion: The present study is a targeted contribution to the current literature to support clinical procedures for CI fitting and audiological follow-up in children with ASD. The findings indicate that the outcomes of CI use and the fitting procedures are both influenced by the severity of the ASD symptoms rather than the demographic variables or associated disorders

Salivary glands abnormalities in oculo-auriculo-vertebral spectrum

BACKGROUND:Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS:Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS:All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p 0.6). CONCLUSIONS:Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment

Brazilian Flora 2020: Leveraging the power of a collaborative scientific network

International audienceThe shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiversity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxonomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world's known plant species than any other country. Despite that, Flora Brasiliensis, concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world's most biodiverse countries. We further identify collection gaps and summarize future goals that extend beyond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still unequally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the country. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora