Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology

Abstract Objectives The aim was to describe the spectrum of inner ear malformations in CHARGE syndrome and propose a Computed Tomography (CT) detailed scan evaluation methodology. The secondary aim was to correlate the CT findings with hearing thresholds. Methods Twenty ears of ten patients diagnosed with CHARGE syndrome were subjected to CT analysis focusing on the inner ear and internal acoustic canal. The protocol used is presented in detail. ASSR results were analyzed and correlated with inner ear malformations. Results Cochlear hypoplasia type III was the most common malformation found in 12 ears (60%). Cochlear hypoplasia type II, aplasia with a dilated vestibule, and rudimentary otocyst were also identified. In 20%, no cochlear anomaly was found. The lateral Semicircular Canal (SCC) absence affected 100% of ears, the absence of the posterior SCC 95%, and the superior SCC 65%. Better development of cochlea structures and IAC correlated significantly with the lower hearing thresholds. Conclusion This study demonstrated that rudimentary SCC or a complete absence of these SCCs was universally observed in all patients diagnosed with CHARGE syndrome. This finding supports the idea that inner ear anomalies are a hallmark feature of the CHARGE, contributing to its distinct clinical profile. The presence of inner ear malformations has substantial clinical implications. Audiological assessments are crucial for CHARGE syndrome, as hearing loss is common. Early detection of these malformations can guide appropriate interventions, such as hearing aids or cochlear implants, which may significantly improve developmental outcomes and communication for affected individuals. Recognizing inner ear malformations as a diagnostic criterion presents implications beyond clinical diagnosis. A better understanding of these malformations can advance the knowledge of CHARGE pathophysiology. It may also help guide future research into targeted therapies to mitigate the impact of inner ear anomalies on hearing and balance function. Level of evidence: 4.

Cochlear implantation in autistic children with profound sensorineural hearing loss / Implante coclear em crianças autistas com perda auditiva neurossensorial profunda

Abstract Introduction Cochlear implants have become the method of choice for the treatment of severe-to-profound hearing loss in both children and adults. Its benefits are well documented in the pediatric and adult population. Also deaf children with additional needs, including autism, have been covered by this treatment. Objective The aim of this study was to assess the benefits from cochlear implantation in deafened children with autism as the only additional disability. Methods This study analyzes data of six children. The follow-up time was at least 43 months. The following data were analyzed: medical history, reaction to music and sound, Ling's six sounds test, onomatopoeic word test, reaction to spoken child's name, response to requests, questionnaire given to parents, sound processor fitting sessions and data. Results After cochlear implantation each child presented other communication skills. In some children, the symptoms of speech understanding were observed. No increased hyperactivity associated with daily use cochlear implant was observed. The study showed that in autistic children the perception is very important for a child's sense of security and makes contact with parents easier. Conclusion Our study showed that oral communication is not likely to be a realistic goal in children with cochlear implants and autism. The implantation results showed benefits that varied among those children. The traditional methods of evaluating the results of cochlear implantation in children with autism are usually insufficient to fully assess the functional benefits. These benefits should be assessed in a more comprehensive manner taking into account the limitations of communication resulting from the essence of autism. It is important that we share knowledge about these complex children with cochlear implants.

Resumo Introdução Os implantes Cocleares tornaram-se o metodo de escolha para o tratamento da perda auditiva severa a profunda em crianças e adultos. Seus beneficios estao bem documentados nas populaçoes pediatrica e adulta. Tambem as crianças surdas com necessidades adicionais, incluindo autismo, tem sido incluidas nesse tratamento. Objetivo O objetivo desse estudo foi avaliar os beneficios do implante coclear em crianças surdas com autismo como unica deficiencia adicional. Método Esse estudo analisa os dados de seis crianças. O tempo de seguimento foi de pelo menos 43 meses. Foram analisados os seguintes dados: historico medico, a reaçao a musica e ao som, teste dos seis sons de Ling, teste de palavra onomatopaica, reaçao ao nome falado da criança, resposta a pedidos, questionario aplicado aos pais, sessoes de ajustes e dados do processador de som. Resultados Apos o implante coclear, cada criança apresentou outras habilidades de comunicaçao. Em algumas crianças, foram observados sinais de compreensao da fala. Nao foi observado aumento de hiperatividade associada com o uso diario de implante coclear. O estudo mostrou que em crianças autistas a percepçao e muito importante para a sensaçao de segurança da criança e torna o contato com os pais mais facil. Conclusão Nosso estudo mostrou que a comunicaçao oral nao e uma meta realistica provavel em crianças com implantes cocleares e autismo. Os resultados do implante mostraram beneficios variaveis entre as crianças. Os metodos tradicionais de avaliaçao dos resultados do implante coclear em crianças com autismo sao geralmente insuficientes para avaliar plenamente os beneficios funcionais. Esses beneficios devem ser avaliados de forma mais abrangente, tendo em conta as limitaçoes de comunicaçao resultantes da essencia do autismo. E importante que compartilhemos conhecimentos sobre essas complexas crianças com implantes cocleares.