RESUMO
PURPOSE: The main aim of this systematic review was to investigate the possible association between hearing loss [and/or history of otitis media with effusion (OME)] and learning difficulties in children. Secondary aims were to: (i) investigate if deaf and hard of hearing (DHH) children with learning difficulties might show different clinical and neuropsychological features compared with those with other neurodevelopmental disorders; (ii) identify possible predictors of learning difficulty in DHH children. METHODS: A review was conducted of the scientific literature reported by Pubmed, Cochrane and Scopus databases. The following inclusion criteria were used: (i) studies published after 2000; (ii) studies conducted considering subjects with age < 18 years; (iii) studies considering patients who showed both learning difficulties and hearing loss and/or episodes of OME; (iv) articles written in English. The exclusion criteria were: (i) presence in the studied cohort of any other proven comorbidities, other than hearing loss and/or OME; (ii) non-original studies. RESULTS: A total of 924 studies were identified. Four were reviewed after applying the above criteria. From their analysis it emerged that: (i) children with hearing loss who had undergone a diagnostic and rehabilitation program before 6 months of age had better levels of K readiness and language and literacy skills compared to those who had undergone it after 6 months; (ii) higher frequency of episodes of OME and the presence of a conductive hearing loss during the period of language acquisition was associated to lower scores in reading skills; (iii) reading difficulties found in subjects with hearing loss had similar characteristics to those with language difficulties. CONCLUSIONS: There is a dearth of information about this topic. Further investigations are therefore necessary on children of various ages with hearing loss to disclose learning difficulties in reading and writing abilities using current diagnostic tools.
Assuntos
Perda Auditiva , Deficiências da Aprendizagem , Humanos , Criança , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/etiologia , Perda Auditiva/etiologia , Adolescente , Otite Média com Derrame/complicações , Otite Média com Derrame/diagnóstico , Masculino , Pré-Escolar , FemininoRESUMO
BACKGROUND: The diagnosis of amyotrophic lateral sclerosis (ALS) is primarily clinical, supported by the electromyographic examination to reveal signs of lower motor neuron damage. Identifying reliable markers of upper motor neuron (UMN) involvement is challenging. On this regard, the role of transcranial magnetic stimulation-induced motor-evoked potentials (TMS-MEPs), and its relationship with UMN burden, is still under investigation. OBJECTIVE: To evaluate the ability of TMS-MEPs in delineating the neurophysiological UMN damage, and to determine the relationship between TMS-MEPs and [18F]FDG-PET measures of neural dysfunction. METHODS: We retrospectively selected 13 ALS patients who underwent, during the diagnostic process, the TMS-MEPs and [18F]FDG-PET scans. Demographic and clinical data were collected. For the MEP evaluation, we considered normal MEP, absent MEP, or significantly increased central-motor-conduction-time. For [18F]FDG-PET, we conducted voxel-wise analyses, both at single-subject and group levels, exploring hypometabolism and hypermetabolism patterns in comparison with a large dataset of healthy controls (HC). RESULTS: Based on TMS-MEPs, we identified 4/13 patients with normal MEP in all limbs (GROUP-NO), while 9/13 had an abnormal MEP in at least one limb (GROUP-AB). Despite the [18F]FDG-PET single-subject analysis revealed heterogenous expression of regional hypo- and hyper-metabolism patterns in the patients, the group-level analysis revealed a common hypometabolism, involving the precentral gyrus and the supplementary motor area, the paracentral lobule and the anterior cingulate cortex in the GROUP-AB. Moreover, exclusively for the GROUP-AB compared with HC, a relative hypermetabolism was observed in the right cerebellum, right inferior and middle temporal gyrus. The GROUP-NO showed no specific cluster of hypo- and hyper-metabolism compared to HC. CONCLUSION: This study showed altered brain metabolism only in the ALS group with abnormal MEPs, suggesting an association between the two biomarkers in defining the UMN damage.
Assuntos
Esclerose Lateral Amiotrófica , Encéfalo , Potencial Evocado Motor , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons , Estimulação Magnética Transcraniana , Humanos , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Esclerose Lateral Amiotrófica/metabolismo , Esclerose Lateral Amiotrófica/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons/métodos , Estimulação Magnética Transcraniana/métodos , Idoso , Estudos Retrospectivos , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Potencial Evocado Motor/fisiologia , Adulto , Índice de Gravidade de DoençaRESUMO
PURPOSE: In early glottic squamous cell carcinoma, similar results have been described in terms of disease control between transoral laser microsurgery (TLM) and radiation therapy (RT). During the past two decades, several studies compared subjective vocal outcomes of exclusive RT with those of TLM, showing a trend towards improving results for TLM over time. However, the objective differences in terms of spectro-acoustic voice parameters between exclusive RT and TLM have been less frequently investigated. The aim of this systematic review with meta-analysis was to evaluate voice quality after TLM and RT treatment for early glottic carcinoma, based on acoustic analysis parameters including jitter, shimmer, noise to harmonic ratio, fundamental frequency and maximum phonation time. MATERIAL AND METHODS: A search of the English published literature was conducted on the Pubmed, Scopus and Cochrane databases following PRISMA guidelines. RESULTS: A total of 441 titles were retrieved from the search. After full-text screening and application of inclusion/exclusion criteria, 12 articles were included. We found no significant differences between TLM and RT treatment in the considered acoustic analysis parameters, except for Shimmer, with more favorable values reported in the RT group. CONCLUSIONS: Considering the spread of the disease and expecting an improvement in long-term survival over time, well-designed and multicentric studies involving larger populations with a long-term follow up are mandatory to better assess objective voice outcomes in terms of spectro-acoustic voice parameters.
Assuntos
Glote , Neoplasias Laríngeas , Terapia a Laser , Microcirurgia , Qualidade da Voz , Humanos , Neoplasias Laríngeas/cirurgia , Neoplasias Laríngeas/radioterapia , Neoplasias Laríngeas/patologia , Microcirurgia/métodos , Glote/cirurgia , Terapia a Laser/métodos , Estadiamento de Neoplasias , Resultado do Tratamento , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células Escamosas/radioterapia , Carcinoma de Células Escamosas/patologia , Acústica da Fala , MasculinoRESUMO
GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. The aim of this study was to investigate the clinical and audiological features of a cohort of subjects with different GJB2/GJB6 gene mutation profiles from a tertiary referral center in Northeastern Italy. We considered 57 patients with GJB2/GJB6 mutations presenting with congenital, non-syndromic SNHL, mainly coming from the Veneto region (Italy). The samples were screened for mutations in exons 1 and 2 of the GJB2 gene and for the GJB6 gene deletion del (GJB6-D13S1830). Free-field and air-conduction frequency-specific thresholds and the pure-tone average (PTA) were considered in the statistical analysis. Five patients (8.87%) had connexin gene mutations in simple heterozygosis, 15 (26.31%) in compound heterozygosis, 34 (59.64%) in homozygosis, and 3 (5.26%) with digenic patterns. The frequency-specific air-conduction thresholds showed significantly different mean values across the different genotypes (Roy's largest-root test, p = 0.0473). Despite the evidence already available on genetic SNHL, many new insights are to be expected. Further large-scale prospective studies including different populations are necessary to confirm these preliminary findings about the clinical and audiological features of patients with different GJB2/GJB6 gene mutation patterns.