Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.

Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility. Objective To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender. Methods We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years - 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR. Results Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III. Conclusion Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

Universal neonatal hearing screening before and during the COVID-19 pandemic.

OBJECTIVE: To verify the frequency of risk factors for hearing loss in newborns and their possible associations with universal neonatal hearing screening results before and during the COVID-19 pandemic. METHODS: Historical cohort study with data analysis of newborns attended in a reference hearing health service of the Unified Health System (SUS) between January 2017 and December 2021. RESULTS: Those born in 2020 and 2021 were 91% less likely to fail the screening than those born in 2017, 2018, and 2019; therefore, they had a lower percentage of referrals for a retest. There was a decrease in congenital syphilis (1.00%), decrease in HIV (0.95%), and an increase in toxoplasmosis (0.58%) and increase in rubella cases in 2021 in relation to 2017. Syphilis had lower frequency rates during the COVID-19 pandemic (2020-2021). CONCLUSION: Newborns born in the pandemic year compared to those born pre-pandemic showed a reduction in the presence of two risk indicators for hearing loss and, consequently, a lower chance of failing the UNHS and a lower percentage of referral for retest.

Self-reported hearing loss and cognitive impairment: a cross-sectional analysis of the EpiFloripa Aging study.

This study aimed to investigate the association between self-reported hearing loss and cognitive impairment in older adults in a city in Southern Brazil. In this cross-sectional, population-based cohort study of older adults, data were collected in the third wave of the EpiFloripa Aging study (2017/2019), which had been performed since 2009 in the city of Florianópolis, Santa Catarina State. Cognitive impairment was the dependent variable analyzed by the Mini-Mental State Examination (MMSE), and self-reported hearing loss, which was included in the cohort only in the last wave, was the main exposure variable. Logistic regression analyses were conducted, considering the study design and sample weights. Data from 1,335 older adults were evaluated. The prevalence was 20.5% for cognitive impairment and 10.7% for hearing loss. Older adults with hearing loss were 2.66 (95%CI: 1.08-6.54) times more likely to have cognitive impairment than older adults without hearing loss. The association between hearing loss and cognitive impairment highlights the need to integrate the early identification of these problems into primary care, as both are risk factors for healthy aging and potentially preventable and/or treatable conditions.

Self-reported hearing loss and cognitive impairment: a cross-sectional analysis of the EpiFloripa Aging study / Perda auditiva autorreferida e comprometimento cognitivo: análise transversal do estudo EpiFloripa Idoso / Pérdida auditiva autorreportada y deterioro cognitivo: análisis transversal del estudio EpiFloripa Anciano

This study aimed to investigate the association between self-reported hearing loss and cognitive impairment in older adults in a city in Southern Brazil. In this cross-sectional, population-based cohort study of older adults, data were collected in the third wave of the EpiFloripa Aging study (2017/2019), which had been performed since 2009 in the city of Florianópolis, Santa Catarina State. Cognitive impairment was the dependent variable analyzed by the Mini-Mental State Examination (MMSE), and self-reported hearing loss, which was included in the cohort only in the last wave, was the main exposure variable. Logistic regression analyses were conducted, considering the study design and sample weights. Data from 1,335 older adults were evaluated. The prevalence was 20.5% for cognitive impairment and 10.7% for hearing loss. Older adults with hearing loss were 2.66 (95%CI: 1.08-6.54) times more likely to have cognitive impairment than older adults without hearing loss. The association between hearing loss and cognitive impairment highlights the need to integrate the early identification of these problems into primary care, as both are risk factors for healthy aging and potentially preventable and/or treatable conditions.

Este estudo teve como objetivo investigar a associação entre perda auditiva autorreferida e comprometimento cognitivo em idosos de uma cidade do sul do Brasil. Trata-se de um estudo transversal de coorte de base populacional com idosos. Os dados foram coletados na terceira onda do estudo EpiFloripa Idoso (2017/2019), realizado desde 2009 na cidade de Florianópolis, Santa Catarina. A variável dependente comprometimento cognitivo foi analisada pelo Mini-Exame do Estado Mental (MEEM), sendo a principal variável de exposição a perda auditiva (autorreferida), incluída na coorte apenas na última onda. Foram realizadas análises de regressão logística levando em consideração o desenho do estudo e os pesos amostrais. Foram avaliados dados de 1.335 idosos. A prevalência de comprometimento cognitivo foi de 20,5% e de perda auditiva, 10,7%. Idosos com perda auditiva tem 2,66 (IC95%: 1,08-6,54) vezes mais chances de ter comprometimento cognitivo quando comparados a idosos sem perda auditiva. A associação encontrada entre perda auditiva e comprometimento cognitivo é um alerta quanto à necessidade de integrar a identificação precoce desses problemas na atenção primária, pois ambas as dimensões analisadas são fatores de risco para o envelhecimento saudável e potencialmente evitáveis e/ou tratáveis.

Este estudio tuvo como objetivo investigar la asociación entre la pérdida auditiva autorreportada y el deterioro cognitivo en personas mayores de una ciudad del sur de Brasil. Se trata de un estudio transversal de cohorte de base poblacional con personas mayores. Los datos se recabaron de la tercera ola del estudio EpiFloripa Anciano (2017/2019), realizado desde 2009 en la ciudad de Florianópolis, Santa Catarina. La variable dependiente deterioro cognitivo se analizó mediante el Miniexamen del Estado Mental (MEEM), y tuvo como principal variable de exposición la pérdida auditiva (autorreportada), incluida en la cohorte solo en la última ola. Se realizaron análisis de regresión logística teniendo en cuenta el diseño del estudio y los pesos de la muestra. Se evaluaron datos de 1.335 personas mayores. La prevalencia de deterioro cognitivo fue del 20,5%; y la de pérdida auditiva, del 10,7%. Las personas mayores con pérdida auditiva tienen 2,66 (IC95%: 1,08-6,54) veces más probabilidades de tener deterioro cognitivo en comparación con las personas mayores sin pérdida auditiva. La asociación encontrada entre pérdida auditiva y deterioro cognitivo llama la atención para la importancia de identificar precozmente estos problemas en la atención primaria, ya que ambas dimensiones analizadas son los factores de riesgo para un envejecimiento saludable y potencialmente prevenible y/o tratable.

Primary Health Care as a guide for assistance to infants at risk of neurodevelopmental disorders. / Atenção Básica como ordenadora do cuidado ao bebê de risco para alterações do neurodesenvolvimento.

Purpose Characterize infants at risk of neurodevelopmental disorders according to sociodemographic and health profiles and describe their monitoring in Basic Health Units (UBS) under different management models. Methods Data were collected from medical records of infants at risk of neurodevelopmental disorders in the west region of the city of Sao Paulo from August 2013 to February 2014 (phase 1 - characterization; phase 2 - monitoring). Results Of the 225 individuals assessed in the first phase of the study, 51.1% were female and 7.11% were twins. Adolescent (45.2%), brown (50.56%), single (46.09%), complete primary education (47.60%) mothers were predominant. The mean number of prenatal visits was 7.12. Most mothers had vaginal delivery (62.22%) at mean gestational age of 37.05 weeks. Mean Apgar scores at the 1st and 5th minutes were 7.13 and 8.80, respectively. Mean weight at birth was 2597.21g., with 50.22% of newborns weighting ≤2500g. In its second phase, the study describes and compares the follow-up of 55 infants according to the UBS management model: 28 in UBS/"Estratégia Saúde da Família" (UBS/ESF) and 27 in traditional UBS (UBS/T). UBS/ESF presented higher mean of consultations (p=0.006). Longer interval between consultations was observed at UBS/T. No records of development milestones were found in 56% of the sample. Growth measures were better registered at UBS/ESF. In both management models, the number of consultations was smaller and the interval between them was shorter than those recommended by the Brazilian Ministry of Health. Conclusion According to the recommended guidelines of the "Rede Cegonha" public policy, gaps in the monitoring of infants at risk of neurodevelopmental disorders are still observed.

Atenção Básica como ordenadora do cuidado ao bebê de risco para alterações do neurodesenvolvimento / Primary Health Care as a guide for assistance to infants at risk of neurodevelopmental disorders

RESUMO Objetivo Caracterizar bebês de risco quanto ao perfil sociodemográfico e de saúde e descrever o acompanhamento de parte destes nas Unidades Básicas de Saúde (UBS), segundo diferentes modelos de gestão. Método Levantamento de dados de prontuários dos bebês de risco nascidos na região Oeste da cidade de São Paulo entre agosto de 2013 e fevereiro de 2014 em duas etapas (1 - caracterização; 2 - acompanhamento do desenvolvimento). Resultados Dos 225 indivíduos incluídos na primeira etapa, 51,1% eram do gênero feminino e 7,11% eram gemelares. Predominaram mães adolescentes (45,2%), pardas (50,56%), com ensino fundamental completo (47,60%) e solteiras (46,09%). A média de consultas pré-natais foi de 7,12. A maioria teve parto vaginal (62,21%) com idade gestacional média de 37,05 semanas. A média do Apgar foi de 7,13 no 1º minuto e 8,80 no 5º minuto. O peso médio ao nascimento foi de 2597,21 g, com 50,22% apresentando peso ≤2500g. Na segunda etapa, descreveu-se e comparou-se o acompanhamento do desenvolvimento de 55 bebês, segundo o modelo de gestão das UBS (28 em UBS/Estratégia Saúde da Família [ESF] e 27 em UBS tradicional). As UBS/ESF apresentaram maior média de consultas (p=0,006). Houve maior intervalo entre consultas nas UBS tradicionais. Da amostra, 56% não apresentaram registros referentes aos marcos de desenvolvimento. As medidas de crescimento foram registradas em maior número nas UBS/ESF. Para ambos, o número de consultas e o intervalo entre estas foram menores que o preconizado pelo Ministério da Saúde. Conclusão Ainda existem lacunas no acompanhamento ao bebê de risco, segundo as diretrizes preconizadas na Rede Cegonha.

ABSTRACT Purpose Characterize infants at risk of neurodevelopmental disorders according to sociodemographic and health profiles and describe their monitoring in Basic Health Units (UBS) under different management models. Methods Data were collected from medical records of infants at risk of neurodevelopmental disorders in the west region of the city of Sao Paulo from August 2013 to February 2014 (phase 1 - characterization; phase 2 - monitoring). Results Of the 225 individuals assessed in the first phase of the study, 51.1% were female and 7.11% were twins. Adolescent (45.2%), brown (50.56%), single (46.09%), complete primary education (47.60%) mothers were predominant. The mean number of prenatal visits was 7.12. Most mothers had vaginal delivery (62.22%) at mean gestational age of 37.05 weeks. Mean Apgar scores at the 1st and 5th minutes were 7.13 and 8.80, respectively. Mean weight at birth was 2597.21g., with 50.22% of newborns weighting ≤2500g. In its second phase, the study describes and compares the follow-up of 55 infants according to the UBS management model: 28 in UBS/"Estratégia Saúde da Família" (UBS/ESF) and 27 in traditional UBS (UBS/T). UBS/ESF presented higher mean of consultations (p=0.006). Longer interval between consultations was observed at UBS/T. No records of development milestones were found in 56% of the sample. Growth measures were better registered at UBS/ESF. In both management models, the number of consultations was smaller and the interval between them was shorter than those recommended by the Brazilian Ministry of Health. Conclusion According to the recommended guidelines of the "Rede Cegonha" public policy, gaps in the monitoring of infants at risk of neurodevelopmental disorders are still observed.