Prevalence and causes of visual impairment in a Brazilian population: The Botucatu Eye Study

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

Muscular, functional and orthodontic changes in pre school children with enlarged adenoids and tonsils

Introduction: Hypertrophy of the adenoids and palatine tonsils is the second most frequent cause of upper respiratory obstruction and, consequently, mouth breathing in children. Prolonged mouth breathing leads to muscular and postural alterations which, in turn, cause dentosketetal changes. Objective: the aim of this study was to determine muscular, functional and dentoskeletal alterations in children aged 3-6 years. Materials and methods: Seventy-three children, including 44 with tonsil hypertrophy and 29 controls, were submitted to otorhinolaryngologic, speech pathologic and orthodontic assessment. Results: Otorhinolaryngologic evaluation revealed a higher incidence of nasal obstruction, snoring, mouth breathing, apneas, nocturnal hypersalivation, itchy nose, repeated tonsillitis and bruxism in children with tonsils hypertrophy. Speech pathologic assessment showed a higher incidence of open lip and lower tongue position, and of hypotonia of the upper and lower lips, tongue and buccinator muscle in these children, accompanied by important impairment in mastication and deglutition. Orthodontic evaluation demonstrated a higher incidence of lower mandible position in relation to the cranial base, a reduction in lower posterior facial height, transverse atresia of the palate, and a dolicofacial pattern. Conclusion: Postural and functional alterations anticipate dentoskeletal changes, except for the facial pattern. Postural alterations and the skeletal pattern seem to play an important role in infant dentofacial growth. (C) 2003 Elsevier B.V. Ireland Ltd. All rights reserved.

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Alterations of cell-mediated immune response in children with febrile seizures

The aim of the present investigation was to study the distribution of T-cell subsets in peripheral blood defined by monoclonal antibodies and by the lymphocyte proliferative response to phytohemagglutinin (PHA) in 30 children with febrile seizures and in 14 age-matched control subjects. Frequent respiratory, urinary and dermatologic infections were observed in 22 patients. The immunologic parameters showed that 64% of the patients presented an increased number of CD8+ cells and a low helper/suppressor ratio was observed in 60% of the patients. In addition, the proliferative response of lymphocytes to PHA was impaired in the patients It was observed the presence of inhibitory activity on lymphocyte function in the plasma of 33% of children with febrile seizures. These results suggest that patients with febrile seizures have an impairment of cellular immunity that may be connected with this epileptic syndrome and explain the infections observed.

Characterization of language disorders in children with lead poisoning

Background: lead poisoning can have a negative impact on the neuropsychological functions, including language, due to the damage it causes to the developthent of the Central Nervous System. Aim: to verify the occurrence of language disorders in children who suffered from led poisoning and to verify the correlation between the lead concentration level in the blood and the language disorders presented by the children. Method: language evaluation of 20 preschoolers, with lead concentration level in the blood above 10μg/dl. Results: 13 children presented language impairment involving only phonology or more than one language subsystem. The statistical analysis indicated that no correlation exists between the severity of the language impairment and the concentration levels of lead. Conclusion: the number of children with language impairment indicates lead poisoning as a risk factor for the present alterations, even though other risk factors for language disorders were found and the absence of correlation between the investigated variables.

Ventricular systolic reserve in asymptomatic children previously treated with low doses of anthracyclines: A longitudinal, prospective exercise echocardiography study

Background: The time course of mild cardiotoxicity induced by anthracycline remains unknown. The aim of this study was to evaluate the long-term evolution of decreased myocardial reserve in children previously treated with a cumulative dose of anthracycline up to 100mg/m 2. Patients and Methods: Twenty-seven asymptomatic cancer survival patients (25 with lymphoblastic leukemia), in continuous remission and off treatment for >12 months with no alterations in conventional echocardiograms were evaluated by exercise echocardiography at 37±15.4 months (T1) and 101±24 months (T2) after finishing treatment (ADRIA group). This group was compared with 25 healthy individuals (control group) similar to the ADRIA group with respect to age and body surface area (BSA). All individuals underwent treadmill exercise testing according to Bruce protocol. Echocardiograms were performed before and immediately after exercise. Results: The groups were similar regarding cardiac structure and left ventricular (LV) systolic function at rest at T1 and T2. The growth of LV posterior wall thickness related to BSA was lower in the ADRIA group at T2. Post exercise, smaller LV ejection indexes and attenuated changes in the afterload in ADRIA group were observed at T1 and T2. Conclusion: The decreased systolic reserve induced by a low dose of anthracycline in asymptomatic children and adolescents remains unaffected over a 5-year period, suggesting that positive outcomes in chronic cardiotoxicity would be expected in patients with mild impairment after anthracycline treatment. © 2011 Wiley Periodicals, Inc.

Auditory steady state response in hearing assessment in infants with cytomegalovirus

OBJETIVO:Relatar o caso de um lactente com citomegalovírus congênito e disacusia neurossensorial progressiva, analisado por três métodos de avaliação auditiva.DESCRIÇÃO DO CASO:Na primeira avaliação auditiva, aos quatro meses de idade, o lactente apresentou ausência de Emissões Otoacústicas (EOA) e Potencial Evocado Auditivo de Tronco Encefálico (PEATE) dentro dos padrões de normalidade para a faixa etária, com limiar eletrofisiológico em 30dBnHL, bilateralmente. Com seis meses, apresentou ausência de PEATE bilateral em 100dBnHL. A avaliação comportamental da audição mostrou-se prejudicada devido ao atraso no desenvolvimento neuropsicomotor. Aos oito meses, foi submetido ao exame de Resposta Auditiva de Estado Estável (RAEE) e os limiares encontrados foram 50, 70, ausente em 110 e em 100dB, respectivamente para 500, 1.000, 2.000 e 4.000Hz, à direita, e 70, 90, 90 e ausente em 100dB, respectivamente para 500, 1.000, 2.000 e 4.000Hz, à esquerda.COMENTÁRIOS:Na primeira avaliação, o lactente apresentou alteração auditiva no exame de EOA e PEATE normal, que passou a ser alterado aos seis meses de idade. A intensidade da perda auditiva só pôde ser identificada pelo exame de RAEE, permitindo estabelecer a melhor conduta na adaptação de aparelho de amplificação sonora individual. Ressalta-se a importância do acompanhamento audiológico para crianças com CMV congênito.

Integrated analysis environment for the Movement Assessment Battery for Children

Developmental Coordination Disorder (DCD), a chronic and usually permanent condition found in children, is characterized by motor impairment that interferes with a child's activities of daily living and with academic achievement. One of the most popular tests for the quantitative diagnosis of DCD is the Movement Assessment Battery for Children (MABC). Based on the Battery's standardized scores, it is possible to identify children with typical development, children at risk of developing DCD, and children with DCD. This article describes a computational system we developed to assist with the analysis of results obtained in the MABC test. The tool was developed for the web environment and its database provides integration of MABC data. Thus, researchers around the world can share data and develop collaborative work in the DCD field. In order to help analysis processes, our system provides services for filtering data to show more specific sets of information and present the results in textual, table, and graphic formats, allowing easier and more comprehensive evaluation of the results.

Gross Motor Deficits in Children Prenatally Exposed to Alcohol: A Meta-analysis

BACKGROUND AND OBJECTIVES: Gross motor (GM) deficits are often reported in children with prenatal alcohol exposure (PAE), but their prevalence and the domains affected are not clear. The objective of this review was to characterize GM impairment in children with a diagnosis of fetal alcohol spectrum disorder (FASD) or moderate to heavy maternal alcohol intake.METHODS: A systematic review with meta-analysis was conducted. Medline, Embase, Allied and Complementary Medicine Database, Cumulative Index to Nursing and Allied Health Literature, PsycINFO, PEDro, and Google Scholar databases were searched. Published observational studies including children aged 0 to <= 18 years with (1) an FASD diagnosis or moderate to heavy PAE, or a mother with confirmed alcohol dependency or binge drinking during pregnancy, and (2) GM outcomes obtained by using a standardized assessment tool. Data were extracted regarding participants, exposure, diagnosis, and outcomes by using a standardized protocol. Methodological quality was evaluated by using Strengthening the Reporting of Observational Studies in Epidemiology guidelines.RESULTS: The search recovered 2881 articles of which 14 met the systematic review inclusion criteria. The subjects' mean age ranged from 3 days to 13 years. Study limitations included failure to report cutoffs for impairment, nonstandardized reporting of PAE, and small sample sizes. The meta-analysis pooled results (n = 10) revealed a significant association between a diagnosis of FASD or moderate to heavy PAE and GM impairment (odds ratio: 2.9; 95% confidence interval: 2.1-4.0). GM deficits were found in balance, coordination, and ball skills. There was insufficient data to determine prevalence.CONCLUSIONS: The significant results suggest evaluation of GM proficiency should be a standard component of multidisciplinary FASD diagnostic services.

Preschool Language Assessment Instrument, second edition, in Brazilian Portuguese-speaking children

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Strategies used by the children's education teacher for orientation and mobility of the visually impaired student

This study aims to identify, describe, and analyse strategies used by a teacher to support the mobility of students with visual impairment in various school environments. A female student with visual impairment in Brazil, aged 5 years, and her classroom teacher participated in the study. Their interactions were videotaped, and later, their dialogue and actions were transcribed. Six themes of analysis were elaborated, one for each support strategy used by the teacher. The results revealed that the strategies employed by the teacher often hampered the child’s orientation and mobility. This was probably the result of a lack of assistance by professionals specialised in Orientation and Mobility, as stipulated in Brazilian legislation.

Da leitura de palavras para textos infantis: inteligibilidade, fluência e nomeação em crianças com implante coclear

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Obsessive-compulsive symptom dimensions in a population-based, cross-sectional sample of school-aged children

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Electrophysiological evidence for impairment of contrast sensitivity in mercury vapor occupational intoxication

Contrast sensitivity (CS) was evaluated in 41 former workers from a lamp manufacturing plant who were on disability retirement due to exposure to mercury and 14 age-matched controls. The CS was measured monocularly using the sweep visual evoked potential (sVEP) paradigm at 6 spatial frequencies (0.2, 0.8, 2.0, 4.0, 15.0, and 30 cpd). Statistical difference (p < 0.05) was found between the controls and the patient right and left eyes for 2.0 and 4.0 cpd. According the results in those spatial frequencies the eyes were classified in best and worst. Statistical differences were found between the controls and the best eyes for 2.0 and 4.0 cpd and for 0.8, 2.0, and 4.0 cpd for their worst eyes. No correlation was found between CS results and the time of exposure (mean 8.9 yr +/- 4.1), time away from the mercury source (mean = 6.0 yr +/- 3.9), urinary mercury level at the time of work (mean = 40.6 mu g/g +/-36.3) or with the mercury level at the CS measurement time (mean = 1.6 mu g/g +/-1.1). We show the first evidence of a permanent impairment in CS measured objectively with the sVEP. Our data complement the previous psychophysical works reporting a diffuse impairment in the CS function showing a CS reduction in the low to middle spatial frequencies. In conclusion, non-reversible CS impairment was found in occupational exposure to mercury vapor. We suggest that CS measurement should be included in studies of the mercury effects of occupational exposure. (C) 2007 Elsevier Inc. All rights reserved.