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Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included. Also, patients were previously screened for variants in the GJB2 gene and for duplications/deletions in the GJB6 gene. Causative variants in 11 different genes were identified in 15 (21.1%) out of 71 probands, 5 of which had associated syndromes. In 6 other patients (8.5%), presumptive causative variants were identified in MYO15A, TMIE, TBC1D24, SPMX, GJB3, PCDH15, and CDH23 genes, uncovering a potential case of digenic Usher syndrome. The study was inconclusive in 20 probands (28.2%), in 19 due to lack of segregation analysis and in one due to uncertain phenotype-genotype matching. In the remaining 30 patients (42.3%) no potentially causative variants were identified. The diagnostic yield did not significantly vary according to the age of hearing-impairment onset. As the first study on the application of NGS technologies in SNHL based on a Portuguese cohort, our results may contribute to characterize the spectrum of variants related to SNHL in the Portuguese population. Additionally, the present study provides new insights into the contribution of MYO3A, TECTA, EDNRB, TBC1D24, and GJB3 genes to SNHL. For the significant number of undiagnosed patients, reanalysis of WES data - either for a broader gene panel or in a non-targeted approach - may be considered.

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This study aimed to contribute to the adaptation of the Self-Monitoring Scale for a Portuguese sample and the examination of the possibility of reducing the scale's length. Considering the psychometric inconsistency of the scale reported in the literature, several analysis criteria to identify the number of factors to be retained were considered. The study included 791 Portuguese men and women aged 17 to 61 years. Data analysis included descriptive statistics, confirmatory factor analysis to assess construct validity, Cronbach's alpha to assess internal consistency, and fit indices (based on IRT). The results indicate a two-dimensional structure with a reduction to 9 items, which shows good values for validity and fit. This study proposes a reduced version of the self-monitoring scale for a Portuguese sample, considering that the use of this method is valuable to identify how individuals differ in the way they present themselves in social situations. (AU)

Este estudo tem como objetivo contribuir para a adaptação da Self-Monitoring Scale numa amostra Portuguesa e análise da possibilidade de reduzir o tamanho da escala. Além disso, e considerando a inconsistência psicométrica da escala relatada na literatura, foram considerados vários critérios de análise para identificar o número de fatores a reter. O estudo abrangeu 791 homens e mulheres Portugueses com idades entre os 17 e os 61 anos. A análise dos dados incluiu estatística descritiva, validade de construto (Análise Fatorial Confirmatória), consistência interna e índice de ajustamento (TRI). Os resultados apontam para uma estrutura bidimensional com uma redução para 9 itens, mostrando bons valores de validade e ajustamento. Este estudo propõe uma versão reduzida da escala de self-monitoramento para uma amostra Portuguesa, considerando que a utilização deste método é uma mais-valia para identificar como os indivíduos diferem na forma como se apresentam em situações sociais. (AU)

Este estudio tiene como objetivo contribuir a la adaptación de la Self-Monitoring Scale en una muestra portuguesa y analizar la posibilidad de reducir el tamaño de la escala. Además, teniendo en cuenta la inconsistencia psicométrica de la escala reportada en la literatura, se consideraron varios criterios de análisis para identificar el número de factores a retener. El estudio incluyó a 791 hombres y mujeres portugueses de entre 17 y 61 años. El análisis de los datos incluyó estadística descriptiva, validez del constructo (Análisis Factorial Confirmatorio), consistencia interna e índice de ajuste (TRI). Los resultados apuntan a una estructura bidimensional con una reducción a 9 ítems, mostrando buenos índices de validez y ajuste. Este estudio propone una versión reducida de la escala de automonitoramento para una muestra portuguesa, mientras que el uso de este método es particularmente valioso para identificar cómo los individuos se diferencian en la forma en que se presentan en situaciones sociales. (AU)

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OBJECTIVE: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. METHODS: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. RESULTS: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03-3.68) and 1 homozygous (95% Confidence Interval 0.01-1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03-3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11-12.8) were heterozygous and 7 (95% Confidence Interval 3.61-15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13-8.31) and 2 homozygous (95% Confidence Interval 0.13-8.31). CONCLUSION: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.

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