Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino de 15 anos com diagnóstico clínico e molecular da síndrome do X-Frágil e achados de neuroimagem do encéfalo compatíveis com variante de Dandy-Walker. A avaliação fonoaudiológica foi realizada por meio da Observação do Comportamento Comunicativo, aplicação do ABFW - Teste de Linguagem Infantil - Fonologia, Perfil de Habilidades Fonológicas, Teste de Desempenho Escolar, Teste Illinois de Habilidades Psicolinguísticas, avaliação do sistema estomatognático e avaliação audiológica. Observou-se: alteração de linguagem oral quanto às habilidades fonológicas, semânticas, pragmáticas e morfossintáticas; déficits nas habilidades psicolinguísticas (recepção auditiva, expressão verbal, combinação de sons, memória sequencial auditiva e visual, closura auditiva, associação auditiva e visual); e alterações morfológicas e funcionais do sistema estomatognático. Na leitura verificou-se dificuldades na decodificação dos símbolos gráficos e na escrita havia omissões, aglutinações e representações múltiplas com o uso predominante de vogais e dificuldades na organização viso-espacial. Em matemática, apesar do reconhecimento numérico, não realizou operações aritméticas. Não foram observadas alterações na avaliação audiológica periférica. A constelação de sintomas comportamentais, cognitivos, linguísticos e perceptivos, previstos na síndrome do X-Frágil, somada às alterações estruturais do sistema nervoso central, pertencentes à variante de Dandy-Walker, trouxeram interferências marcantes no desenvolvimento das habilidades comunicativas, no aprendizado da leitura e escrita e na integração social do indivíduo.

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (CH) and phenylketonuria (PKU), among others. In 2005, a partnership was established with the Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with CH and PKU. OBJECTIVE: The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU. MATERIALS AND METHODS: Sixty-eight children (25 children aged 1 to 120 months with PKU and 43 children aged 1 to 60 months with CH) participated in the study. The handbooks were analyzed and different instruments were applied (Observation of Communication Behavior, Early Language Milestone Scale, Peabody Picture Vocabulary Test, Gesell & Amatruda's Behavioral Development Scale, Portage Operation Inventory, Language Development Evaluation Scale, Denver Developmental Screening Test, ABFW Child Language Test-phonology and Illinois Test of Psycholinguistic Abilities), according to the children's age group and developmental level. RESULTS: It was observed that the children with PKU and CH at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. Alterations in the psycholinguistic abilities were also found, mainly after the preschool age. Attention deficits, language and cognitive alterations were more often observed in children with CH, while attention deficits with hyperactivity and alterations in the personal-social, language and motor adaptive abilities were more frequent in children with PKU. CONCLUSION: CH and PKU can cause communicative and psycholinguistic alterations that compromise the communication and affect the social integration and learning of these individuals, proving the need of having these abilities assisted by a speech and language pathologist.

Health Related Quality of Life Assessment questionnaire for children aged 5 to 11 years with HIV/AIDS: cross-cultural adaptation for the Portuguese language

The objective of this study is to describe preliminary results from the cross-cultural adaptation of the Quality of Life Assessment Questionnaire, used to measure health related quality of life (HRQL) in Brazilian children aged between 5 and 11 with HIV/AIDS. The cross-cultural model evaluated the Concept, Item, Semantic and Measurement Equivalences (internal consistency and intra-observer reliability). Evaluation of the conceptual, item, semantic equivalences showed that the Portuguese version is pertinent for the Brazilian context. Four of seven domains showed internal consistency above 0.70 (α: 0.76-0.90) and five of seven revealed intra-observer reliability (ricc: 0.41-0.70). This first Portuguese version of the HRQL questionnaire can be understood as a valuable tool for assessing children's HRQL, but further studies with large samples and more robust analyses are recommended before use in the Brazilian context.

Importância do fonoaudiólogo no acompanhamento de indivíduos com hipotireoidismo congênito

TEMA: o hipotireoidismo congênito é uma alteração metabólica que traz conseqüência graves para indivíduos não tratados e mesmo as crianças que realizam o tratamento podem apresentar distúrbios do desenvolvimento. O Programa Nacional de Triagem Neonatal, instituído pelo Ministério da Saúde, prevê o acompanhamento longitudinal de indivíduos com equipe multidisciplinar. Entretanto, a Fonoaudiologia não é incluída nesta equipe. Deste modo, considerando a ocorrência de distúrbios da comunicação nestes indivíduos, realizou-se levantamento bibliográfico nas bases de dados Lilacs, MedLine e PubMed, no período de 1987 a 2007, referente às alterações em habilidades do desenvolvimento decorrentes do hipotireoidismo congênito. OBJETIVO: verificar, na literatura científica, presença de alterações do desenvolvimento em indivíduos com hipotireoidismo congênito e refletir sobre a importância da atuação fonoaudiológica, em conjunto com equipe multidisciplinar especializada, no acompanhamento dos mesmos. CONCLUSÃO: a literatura relata alterações nas habilidades do desenvolvimento (motoras, cognitivas, lingüísticas e de autocuidados) e destaca que crianças com hipotireoidismo congênito são de risco para alterações no desenvolvimento lingüístico e, portanto, necessitam do acompanhamento longitudinal do desenvolvimento comunicativo. Torna-se evidente a importância da atuação do fonoaudiólogo nos Programas de Triagem Neonatal credenciados pelo Ministério da Saúde. Ressalta-se ainda a necessidade de investigações referentes às outras alterações metabólicas contempladas nestes programas, nas quais o fonoaudiólogo pode atuar de modo a prevenir, habilitar e reabilitar os distúrbios da comunicação, contribuindo para o trabalho em equipe, promovendo saúde nesta população.

Oral findings and dental care in a patient with myelomeningocele: case report of a 3-year-old child

Myelomeningocele (MMC) is a congenital malformation of the neural tube that occurs in the first weeks of pregnancy. This malformation refers to the caudal non-closure of the neural tube and neural tissue exposure, which lead to neurological problems, such as hydrocephalus, motor disability, genitourinary tract and skeletal abnormalities and mental retardation. Patients with MMC have an acknowledged predisposition to latex allergy and are usually at a high caries risk and activity due to poor oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing medications. This paper addresses the common oral findings in pediatric patients with MMC, discusses the strategies and precautions to deal with these individuals and reports the dental care to a young child diagnosed with this condition.

Caracterização do jogo simbólico em deficientes auditivos: estudo de casos e controles

TEMA: crianças deficientes auditivas não adquirem linguagem no mesmo período e velocidade de uma criança normo-ouvinte, pois o aprendizado da linguagem oral é um evento essencialmente auditivo. O desenvolvimento da criança consiste na aquisição progressiva de habilidades motoras e psicocognitivas, e a entrada no mundo simbólico é fator preponderante para que a criança possa atingir os níveis de maior complexidade no domínio da linguagem. OBJETIVO: relacionar o jogo simbólico e aspectos do desenvolvimento infantil em crianças deficientes auditivas com seus pares ouvintes. MÉTODO: 32 crianças, de ambos os sexos, de 2 a 6 anos de idade, pareadas por idade, foram submetidas à Avaliação da Maturidade Simbólica e ao Teste de Triagem do Desenvolvimento de Denver II, sendo 16 deficientes auditivas neurossensorial de grau moderado a profundo (grupo pesquisa - GP) e 16 normo-ouvintes (grupo controle - GC). RESULTADOS: observou-se simbolismo na brincadeira de 81,25% do GP, enquanto que no GC isto ocorreu em 87,5%. No Teste de Denver II 100% do GP foi classificado como risco, e o GC apresentou 94% de crianças normais e 6% de risco (p < 0,001). CONCLUSÃO: observou-se desempenho semelhante nos dois grupos quanto ao jogo simbólico. Entretanto, numa análise qualitativa, o GP apresentou brincadeiras menos complexas que o GC. Observou-se que o GP apresentou desempenho no jogo simbólico compatível ao seu desempenho nos aspectos pessoal-social, motor fino-adaptativo e motor grosseiro do Teste de Denver II.

Equivalência conceitual, de itens e semântica da versão brasileira do instrumento Dysfunctional Voiding Scoring System (DVSS) para avaliação de disfunção do trato urinário inferior em crianças

Investiga-se a equivalência conceitual, de itens e semântica entre o instrumento Dysfunctional Voiding Scoring System (DVSS), utilizado para avaliar a disfunção funcional do trato urinário inferior em crianças, concebido em inglês e uma versão em português. Na primeira etapa realizou-se a avaliação da equivalência conceitual e de itens, seguida de duas traduções do instrumento original para o português. Na segunda etapa foram realizadas 63 entrevistas, com crianças de 3 a 10 anos e responsáveis, e modificação de itens segundo dificuldades de interpretação. Na terceira etapa foi realizada a retradução do instrumento em português para o inglês e avaliação da equivalência semântica. Na quarta etapa, a versão pré-teste foi aplicada em vinte duplas de crianças de 3 a 10 anos e responsáveis. Apresenta-se o instrumento em português com equivalência conceitual, de itens e semântica. Sugere-se que a aplicação do DVSS seja realizada por meio de entrevista por profissional treinado e não baseada em autopreenchimento como proposto no instrumento original.

Narrowing socioeconomic inequality in child stunting: the Brazilian experience, 1974–2007

Objective To assess trends in the prevalence and social distribution of child stunting in Brazil to evaluate the effect of income and basic service redistribution policies implemented in that country in the recent past. Methods The prevalence of stunting (height-for-age z score below \22122 using the Child Growth Standards of the World Health Organization) among children aged less than 5 years was estimated from data collected during national household surveys carried out in Brazil in 1974\201375 (n = 34 409), 1989 (n = 7374), 1996 (n = 4149) and 2006\201307 (n = 4414). Absolute and relative socioeconomic inequality in stunting was measured by means of the slope index and the concentration index of inequality, respectively. Findings Over a 33-year period, we documented a steady decline in the national prevalence of stunting from 37.1 per cent to 7.1 per cent. Prevalence dropped from 59.0 per cent to 11.2 per cent in the poorest quintile and from 12.1 per cent to 3.3 per cent among the wealthiest quintile. The decline was particularly steep in the last 10 years of the period (1996 to 2007), when the gaps between poor and wealthy families with children under 5 were also reduced in terms of purchasing power; access to education, health care and water and sanitation services; and reproductive health indicators.Conclusion In Brazil, socioeconomic development coupled with equity-oriented public policies have been accompanied by marked improvements in living conditions and a substantial decline in child undernutrition, as well as a reduction of the gap in nutritional status between children in the highest and lowest socioeconomic quintiles. Future studies will show whether these gains will be maintained under the current global economic crisis

Recent trends in maternal, newborn, and child health in Brazil: progress toward Millennium Development Goals 4 and 5

We analyzed Brazil's efforts in reducing child mortality, improving maternal and child health, and reducing socioeconomic and regional inequalities from 1990 through 2007. We compiled and reanalyzed data from several sources, including vital statistics and population-based surveys. We also explored the roles of broad socioeconomic and demographic changes and the introduction of health sector and other reform measures in explaining the improvements observed. Our findings provide compelling evidence that proactive measures to reduce health disparities accompanied by socioeconomic progress can result in measurable improvements in the health of children and mothers in a relatively short interval. Our analysis of Brazil's successes and remaining challenges to reach and surpass Millennium Development Goals 4 and 5 can provide important lessons for other low- and middle-income countries

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

Background: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the gene which encodes hepatic glycogen synthase, resulting in reduction of glycogen storage in the liver. Case Presentation: Biochemical evaluation as well as direct sequencing of exons and exon-intron boundary regions of the GYS2 gene were performed in a patient presenting fasting hypoglycemia and postprandial hyperglycemia and her parents. The patient was found to be compound heterozygous for one previously reported nonsense mutation (c. 736 C>T; R243X) and a novel frameshift mutation (966_967delGA/insC) which introduces a stop codon 21 aminoacids downstream from the site of the mutation that presumably leads to loss of 51% of the COOH-terminal part of the protein. The glycemia and lactatemia of the parents after an oral glucose tolerance test were evaluated to investigate a possible impact of the carrier status on the metabolic profile. The mother, who presented a positive family history of type 2 diabetes, was classified as glucose intolerant and the father, who did not exhibit metabolic changes after the glucose overload, had an antecedent history of hypoglycemia after moderate alcohol ingestion. Conclusion: The current results expand the spectrum of known mutations in GYS2 and suggest that haploinsufficiency could explain metabolic abnormalities in heterozygous carriers in presence of predisposing conditions.

Age of Child, More than HPV Type, Is Associated with Clinical Course in Recurrent Respiratory Papillomatosis

Background: RRP is a devastating disease in which papillomas in the airway cause hoarseness and breathing difficulty. The disease is caused by human papillomavirus (HPV) 6 or 11 and is very variable. Patients undergo multiple surgeries to maintain a patent airway and in order to communicate vocally. Several small studies have been published in which most have noted that HPV 11 is associated with a more aggressive course. Methodology/Principal Findings: Papilloma biopsies were taken from patients undergoing surgical treatment of RRP and were subjected to HPV typing. 118 patients with juvenile-onset RRP with at least 1 year of clinical data and infected with a single HPV type were analyzed. HPV 11 was encountered in 40% of the patients. By our definition, most of the patients in the sample (81%) had run an aggressive course. The odds of a patient with HPV 11 running an aggressive course were 3.9 times higher than that of patients with HPV 6 (Fisher's exact p = 0.017). However, clinical course was more closely associated with age of the patient (at diagnosis and at the time of the current surgery) than with HPV type. Patients with HPV 11 were diagnosed at a younger age (2.4y) than were those with HPV 6 (3.4y) (p = 0.014). Both by multiple linear regression and by multiple logistic regression HPV type was only weakly associated with metrics of disease course when simultaneously accounting for age. Conclusions/Significance Abstract: The course of RRP is variable and a quarter of the variability can be accounted for by the age of the patient. HPV 11 is more closely associated with a younger age at diagnosis than it is associated with an aggressive clinical course. These data suggest that there are factors other than HPV type and age of the patient that determine disease course.

Psychometric properties of the Child Health Assessment Questionnaire (CHAQ) applied to children and adolescents with cerebral palsy

Background: Cerebral palsy (CP) patients have motor limitations that can affect functionality and abilities for activities of daily living (ADL). Health related quality of life and health status instruments validated to be applied to these patients do not directly approach the concepts of functionality or ADL. The Child Health Assessment Questionnaire (CHAQ) seems to be a good instrument to approach this dimension, but it was never used for CP patients. The purpose of the study was to verify the psychometric properties of CHAQ applied to children and adolescents with CP. Methods: Parents or guardians of children and adolescents with CP, aged 5 to 18 years, answered the CHAQ. A healthy group of 314 children and adolescents was recruited during the validation of the CHAQ Brazilian-version. Data quality, reliability and validity were studied. The motor function was evaluated by the Gross Motor Function Measure (GMFM). Results: Ninety-six parents/guardians answered the questionnaire. The age of the patients ranged from 5 to 17.9 years (average: 9.3). The rate of missing data was low(< 9.3%). The floor effect was observed in two domains, being higher only in the visual analogue scales (<= 35.5%). The ceiling effect was significant in all domains and particularly high in patients with quadriplegia (81.8 to 90.9%) and extrapyramidal (45.4 to 91.0%). The Cronbach alpha coefficient ranged from 0.85 to 0.95. The validity was appropriate: for the discriminant validity the correlation of the disability index with the visual analogue scales was not significant; for the convergent validity CHAQ disability index had a strong correlation with the GMFM (0.77); for the divergent validity there was no correlation between GMFM and the pain and overall evaluation scales; for the criterion validity GMFM as well as CHAQ detected differences in the scores among the clinical type of CP (p < 0.01); for the construct validity, the patients' disability index score (mean: 2.16; SD: 0.72) was higher than the healthy group ( mean: 0.12; SD: 0.23)(p < 0.01). Conclusion: CHAQ reliability and validity were adequate to this population. However, further studies are necessary to verify the influence of the ceiling effect on the responsiveness of the instrument.

Primary Hyperparathyroidism as the First Clinical Manifestation of Multiple Endocrine Neoplasia Type 2A in a 5-Year-Old Child

Background: Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life. Summary: A5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation. She was clinically asymptomatic, with a normally palpable thyroid and with the cervical region free of lymphadenopathy or other nodules. Preoperative tests revealed hypercalcemia associated with elevation of parathyroid hormone (PTH) (calcium = 11.2mg/dL, calcium ion = 1.48mmol/L, phosphorus = 4.0 mg/dL, alkaline phosphatase = 625U/L, parathyroid hormone (PTH) PTH = 998 pg/mL). A thyroid ultrasound was normal and parathyroid scintigraphy with (99m)Tc-Sestamibi revealed an area of radioconcentration in the upper half of the left thyroid lobe suggesting hyperfunctioning parathyroid tissue. She underwent total thyroidectomy and parathyroidectomy and developed hypocalcemia. The anatomopathological examination showed no histopathological changes in the thyroid tissue and an adenoma of the parathyroid gland, confirming the diagnosis of hyperparathyroidism. Conclusions: Primary hyperparathyroidism can be a precocious manifestation of MEN2A. This case report highlights that asymptomatic hypercalcemia should be scrutinized in children related to patients with MEN2A who carry a mutation in the RET proto-oncogene, especially mutations in the codon 634, before the currently recommended age of 8 years.

Biologically Plausible Connectionist Prediction of Natural Language Thematic Relations

In Natural Language Processing (NLP) symbolic systems, several linguistic phenomena, for instance, the thematic role relationships between sentence constituents, such as AGENT, PATIENT, and LOCATION, can be accounted for by the employment of a rule-based grammar. Another approach to NLP concerns the use of the connectionist model, which has the benefits of learning, generalization and fault tolerance, among others. A third option merges the two previous approaches into a hybrid one: a symbolic thematic theory is used to supply the connectionist network with initial knowledge. Inspired on neuroscience, it is proposed a symbolic-connectionist hybrid system called BIO theta PRED (BIOlogically plausible thematic (theta) symbolic-connectionist PREDictor), designed to reveal the thematic grid assigned to a sentence. Its connectionist architecture comprises, as input, a featural representation of the words (based on the verb/noun WordNet classification and on the classical semantic microfeature representation), and, as output, the thematic grid assigned to the sentence. BIO theta PRED is designed to ""predict"" thematic (semantic) roles assigned to words in a sentence context, employing biologically inspired training algorithm and architecture, and adopting a psycholinguistic view of thematic theory.