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Hearing Disorders: HELP
Articles by Angelo Selicorni
Based on 4 articles published since 2010
(Why 4 articles?)

Between 2010 and 2020, Angelo Selicorni wrote the following 4 articles about Hearing Disorders.
+ Citations + Abstracts
1 Article Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. 2016

Mariani, Milena / Decimi, Valentina / Bettini, Laura Rachele / Maitz, Silvia / Gervasini, Cristina / Masciadri, Maura / Ajmone, Paola / Kullman, Gaia / Dinelli, Marco / Panceri, Roberto / Cereda, Anna / Selicorni, Angelo. · ·Am J Med Genet C Semin Med Genet · Pubmed #27164219.

ABSTRACT: Cornelia de Lange syndrome (CdLS) is a rare genetic condition related to mutation of various cohesion complex related genes. Its natural history is quite well characterized as regard pediatric age. Relatively little information is available regarding the evolution of the disease in young-adult age. In medical literature, only one specific study has been published on this topic. We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young-adult age. Other medical features that should be considered in the medical follow-up are tendency to overweight/frank obesity, constipation, discrepancy of limbs' length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched for in evaluating a patient showing such a disorder. Finally, recommendations for medical follow-up in adult age are discussed. © 2016 Wiley Periodicals, Inc.

2 Article Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome. 2014

Marchisio, Paola / Selicorni, Angelo / Bianchini, Sonia / Milani, Donatella / Baggi, Elena / Cerutti, Marta / Larizza, Lidia / Principi, Nicola / Esposito, Susanna. ·Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address: paola.marchisio@unimi.it. · Pediatric Clinic, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy. · Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. · Genetic Unit, Università degli Studi di Milano, San Paolo Hospital, Milan, Italy. ·Int J Pediatr Otorhinolaryngol · Pubmed #24774220.

ABSTRACT: OBJECTIVE: Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype. METHODS: The study involved 44 pediatric patients aged 1-18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological examination. The presence of NIPBL and SMC1 mutations was also evaluated. RESULTS: According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38.6%) were severe. Thirty-eight children (86%) had OME. Eight children had normal hearing, including one (12.5%) with a severe phenotype. Bilateral sensorineural hearing loss (SNHL) was diagnosed in 10 children (22.7%): the degree of HL was severe in 8 (80%), all with a severe phenotype. Conductive hearing loss (CHL) was present in 26 patients (59.1%), of whom 8 (30.8%) had a severe phenotype. A severe phenotype was more prevalent among the patients with moderate to severe HL (10/16, 62.5%) than among those with slight/mild HL or normal hearing (7/28, 25.0% p=0.013). NIPBL mutations were detected in 22 patients (50%): 13 (59.1%) with truncating mutations, four (18.2%) with missense mutations, and five (22.7%) with splicing mutations. The frequency of NIPBL truncating mutations was similar in the children with SNHL and those with CHL, whereas this kind of mutation was not found in children with normal hearing. CONCLUSION: Together with SNHL, CHL is an important cause of HL in children with CdLS, and can be associated with a severe phenotype. Moreover, CHL can be associated with NIPBL mutations, particularly truncating mutations. These results highlight the importance of the early identification of audiological problems in children with CdLS and their precise genetic characterization.

3 Article Audiological follow-up of 24 patients affected by Williams syndrome. 2013

Barozzi, Stefania / Soi, Daniela / Spreafico, Emanuela / Borghi, Anna / Comiotto, Elisabetta / Gagliardi, Chiara / Selicorni, Angelo / Forti, Stella / Cesarani, Antonio / Brambilla, Daniele. ·Audiology Unit, Dip. Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via Pace 9, 20122 Milano, Italy. Electronic address: stefania.barozzi@unimi.it. ·Eur J Med Genet · Pubmed #23886711.

ABSTRACT: Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in most patients.

4 Article Audiological findings in Williams syndrome: a study of 69 patients. 2012

Barozzi, Stefania / Soi, Daniela / Comiotto, Elisabetta / Borghi, Anna / Gavioli, Chiara / Spreafico, Emanuela / Gagliardi, Chiara / Selicorni, Angelo / Forti, Stella / Ambrosetti, Umberto / Cesarani, Antonio / Brambilla, Daniele. ·Audiologic Unit, Department of Specialized Surgical Sciences, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. stefania.barozzi@unimi.it ·Am J Med Genet A · Pubmed #22411878.

ABSTRACT: The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15 dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15 dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.