The impact of the environment on neurodevelopmental disorders in early childhood.

OBJECTIVES: To review the literature about the environmental impact on children's mental, behavior, and neurodevelopmental disorders. SOURCES OF DATA: A nonsystematic review of papers published on MEDLINE-PubMed was carried out using the terms environment and mental health or psychiatric disorders or neurodevelopmental disorders. SUMMARY OF FINDINGS: Psychopathology emerges at different developmental times as the outcome of complex interactions between nature and nurture and may impact each person in different ways throughout childhood and determine adult outcomes. Mental health is intertwined with physical health and is strongly influenced by cultural, social and economic factors. The worldwide prevalence of psychiatric disorders in children and adolescents is 13.4%, and the most frequent are anxiety, disruptive behavior disorders, attention deficit hyperactivity disorder and depression. Neurodevelopment begins at the embryonic stage and continues through adulthood with genetic differences, environmental exposure, and developmental timing acting synergistically and contingently. Early life experiences have been linked to a dysregulation of the neuroendocrine-immune circuitry which results in alterations of the brain during sensitive periods. Also, the environment may trigger modifications on the epigenome of the differentiating cell, leading to changes in the structure and function of the organs. Over 200 million children under 5 years are not fulfilling their developmental potential due to the exposure to multiple risk factors, including poverty, malnutrition and unsafe home environments. CONCLUSIONS: Continued support for the promotion of a protective environment that comprises effective parent-child interactions is key in minimizing the effects of neurodevelopmental disorders throughout the lifetime.

The impact of the environment on neurodevelopmental disorders in early childhood

Abstract Objectives: To review the literature about the environmental impact on children's mental, behavior, and neurodevelopmental disorders. Sources of data: A nonsystematic review of papers published on MEDLINE-PubMed was carried out using the terms environment and mental health or psychiatric disorders or neurodevelopmental disorders. Summary of findings: Psychopathology emerges at different developmental times as the outcome of complex interactions between nature and nurture and may impact each person in different ways throughout childhood and determine adult outcomes. Mental health is intertwined with physical health and is strongly influenced by cultural, social and economic factors. The worldwide prevalence of psychiatric disorders in children and adolescents is 13.4%, and the most frequent are anxiety, disruptive behavior disorders, attention deficit hyperactivity disorder and depression. Neurodevelopment begins at the embryonic stage and continues through adulthood with genetic differences, environmental exposure, and developmental timing acting synergistically and contingently. Early life experiences have been linked to a dysregulation of the neuroendocrine-immune circuitry which results in alterations of the brain during sensitive periods. Also, the environment may trigger modifications on the epigenome of the differentiating cell, leading to changes in the structure and function of the organs. Over 200 million children under 5 years are not fulfilling their developmental potential due to the exposure to multiple risk factors, including poverty, malnutrition and unsafe home environments. Conclusions: Continued support for the promotion of a protective environment that comprises effective parent-child interactions is key in minimizing the effects of neurodevelopmental disorders throughout the lifetime.

Estudo exploratório sobre análise multimodal da atenção compartilhada / Exploratory study on the multimodal analysis of the joint attention

RESUMO O objetivo deste estudo foi produzir análise multimodal exploratória sobre a atenção compartilhada. Utilizou-se a ferramenta ELAN (EUDICO Language Annotator), software com recursos para sincronização temporal e especiais para modalidades verbal e não verbal, que facilitam a visualização e anotação de contextos interacionais. Foram analisados e transcritos trechos de dez minutos de sessão de avaliação fonoaudiológica de uma criança em investigação para transtorno do espectro do autismo (TEA) e outra, com desenvolvimento típico, pareadas por faixa etária e gênero. Foram investigadas e quantificadas as ocorrências espontâneas de direcionamento do olhar das crianças para: os olhos do interlocutor; os brinquedos e/ou brincadeiras; os olhos do interlocutor - brinquedos (atenção compartilhada). As ocorrências de direcionamento do olhar diferiram entre as crianças de forma quantitativa e qualitativa. A criança com suspeita de TEA não produziu episódio de atenção compartilhada, nem direcionou seu olhar para o interlocutor. Foram 56 ocorrências de direcionamentos de olhar apenas para os brinquedos. A criança em desenvolvimento típico produziu 18 ocorrências de atenção compartilhada, sendo que, em todas as vezes que direcionou o olhar para os olhos do interlocutor, o fez para compartilhar o brinquedo ou brincadeira. Observou-se, ainda, 37 ocorrências de direcionamento do olhar para o brinquedo. A partir da análise exploratória produzida pela ferramenta ELAN, foi possível observar que houve diferença em número de ocorrência e trajetória do olhar entre as duas crianças e verificar que a atenção compartilhada esteve ausente na criança com risco para TEA.

ABSTRACT The aim of this study was to produce exploratory multimodal analysis on joint attention. We used the ELAN tool: software with resources for temporal and special synchronization for verbal and non-verbal modalities that facilitate the visualization and annotation of interactional contexts. Excerpts of ten minutes of speech and language pathology evaluation of the child with suspected ASD and of another child with typical development matched by age group and gender, were analyzed and transcribed. Spontaneous occurrences of the child's gaze were investigated: a) Towards the interlocutor's eyes. b) Towards toys or play. c) Towards the interlocutor's eyes and toys (Joint Attention). The occurrences of look direction differed between children in a quantitative and qualitative way. The child with suspected ASD did not produce an episode of joint attention, nor did he direct his gaze to the interlocutor. There were 56 occurrences of gazing towards the toys. The typical child produced 18 occurrences of joint attention, and whenever he directed his eyes to the interlocutor's eyes, he did so with the intention of sharing the toy or play. We also observed 37 occurrences of gazing towards the toy or play. From the exploratory analysis produced by ELAN tool, it was possible to observe that there were differences in the number of occurrences and look direction between the evaluated children and to verify that the joint attention was absent in the child with ASD risk.

The Impact of the Implementation of the Picture Exchange Communication System - PECS on Understanding Instructions in Children with Autism Spectrum Disorders. / O impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções em crianças com Transtorno do Espectro do Autismo.

PURPOSE: The purpose of this study was to analyze the impact of the implementation of the Picture Exchange Communication System (PECS) on the comprehension of instructions by children with Autism Spectrum Disorder (ASD). METHODS: This is a longitudinal study (N° 0809/2018). The sample consisted of 20 children with nonverbal ASDs, 15 boys and 5 girls, aged 6 to 12 years, evaluated and diagnosed by a multidisciplinary team according to the DSM-5. For assessment of the comprehension of instructions, we used eight visual instructions and eight oral instructions, which were applied at two points in the PECS Implementation Program: early phases II and IV. The program consisted of 24 individual speech therapy sessions with the presence of a family member and followed the six phases originally proposed by the PECS Training Manual. RESULTS: There was an expressive increase in the comprehension of all instructions, in the comparison between the two moments of the study; and this increase was statistically significant in six of the oral instructions (p=0.001) and five of the visual ones (p=0.002). CONCLUSION: It was possible to observe the positive impact of the use of PECS in the comprehension of both visual and oral instructions, showing that this system not only provides an augmentative or alternative communication tool for the children to express themselves but also promotes significant improvement in the understanding of contextual information.

OBJETIVO: O objetivo deste estudo foi analisar o impacto da implementação do Picture Exchange Communication System ­ PECS na compreensão de instruções de crianças com Transtorno do Espectro do Autismo (TEA). MÉTODO: Trata-se de estudo longitudinal. A amostra foi constituída por 20 crianças com TEA não verbais, sendo 15 meninos e 5 meninas, na faixa etária de 6 a 12 anos, avaliadas e diagnosticadas por equipe multidisciplinar, segundo os critérios do DSM-5. Para avaliação da compreensão de instruções foram aplicadas 8 instruções visuais e 8 instruções orais, em dois momentos do Programa de Implementação do PECS: no início das fases II e IV. O programa foi composto por 24 sessões de terapia fonoaudiológica individual com a presença do familiar e obedeceu às seis fases propostas originalmente pelo Manual de Treinamento do PECS. RESULTADOS: Houve aumento expressivo na compreensão de todas as instruções, na comparação entre os dois momentos do estudo; sendo que em seis das instruções orais (p=0,001) e cinco das instruções visuais (p=0,002), esse aumento foi estatisticamente significante. CONCLUSÃO: Foi possível observar o impacto positivo do uso do PECS na compreensão de instruções tanto visuais quanto orais, mostrando que esse sistema não apenas fornece uma ferramenta de comunicação aumentativa ou alternativa para a criança se expressar, mas também promove melhora significativa na compreensão das informações contextuais.

O impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções em crianças com Transtorno do Espectro do Autismo / The Impact of the Implementation of the Picture Exchange Communication System - PECS on Understanding Instructions in Children with Autism Spectrum Disorders

RESUMO Objetivo O objetivo deste estudo foi analisar o impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções de crianças com Transtorno do Espectro do Autismo (TEA). Método Trata-se de estudo longitudinal. A amostra foi constituída por 20 crianças com TEA não verbais, sendo 15 meninos e 5 meninas, na faixa etária de 6 a 12 anos, avaliadas e diagnosticadas por equipe multidisciplinar, segundo os critérios do DSM-5. Para avaliação da compreensão de instruções foram aplicadas 8 instruções visuais e 8 instruções orais, em dois momentos do Programa de Implementação do PECS: no início das fases II e IV. O programa foi composto por 24 sessões de terapia fonoaudiológica individual com a presença do familiar e obedeceu às seis fases propostas originalmente pelo Manual de Treinamento do PECS. Resultados Houve aumento expressivo na compreensão de todas as instruções, na comparação entre os dois momentos do estudo; sendo que em seis das instruções orais (p=0,001) e cinco das instruções visuais (p=0,002), esse aumento foi estatisticamente significante. Conclusão Foi possível observar o impacto positivo do uso do PECS na compreensão de instruções tanto visuais quanto orais, mostrando que esse sistema não apenas fornece uma ferramenta de comunicação aumentativa ou alternativa para a criança se expressar, mas também promove melhora significativa na compreensão das informações contextuais.

ABSTRACT Purpose The purpose of this study was to analyze the impact of the implementation of the Picture Exchange Communication System (PECS) on the comprehension of instructions by children with Autism Spectrum Disorder (ASD). Methods This is a longitudinal study (N° 0809/2018). The sample consisted of 20 children with nonverbal ASDs, 15 boys and 5 girls, aged 6 to 12 years, evaluated and diagnosed by a multidisciplinary team according to the DSM-5. For assessment of the comprehension of instructions, we used eight visual instructions and eight oral instructions, which were applied at two points in the PECS Implementation Program: early phases II and IV. The program consisted of 24 individual speech therapy sessions with the presence of a family member and followed the six phases originally proposed by the PECS Training Manual. Results There was an expressive increase in the comprehension of all instructions, in the comparison between the two moments of the study; and this increase was statistically significant in six of the oral instructions (p=0.001) and five of the visual ones (p=0.002). Conclusion It was possible to observe the positive impact of the use of PECS in the comprehension of both visual and oral instructions, showing that this system not only provides an augmentative or alternative communication tool for the children to express themselves but also promotes significant improvement in the understanding of contextual information.

Chin tremor in full-term neonate after hypoxia.

CONTEXT: Newborns may present a range of motor phenomena that are not epileptic in nature. Chin tremor is an unusual movement disorder that typically starts in early childhood and may be precipitated by stress and emotion. Its pathophysiology has not been fully elucidated. CASE REPORT: We describe a full-term newborn that, immediately after neonatal anoxia, presented body and chin tremors that were unresponsive to anti-epileptic drugs. Subsequent neurological evaluation revealed signs of pyramidal tract damage and chin tremor triggered by percussion and crying. We discuss the hypothesis that the anatomopathological abnormality may lie at the level of the higher cortical centers or midbrain. CONCLUSIONS: Further studies are needed in order to gain greater comprehension of neonatal tremors. Recognition of the various etiological possibilities and consequent management of treatable causes is essential for care optimization.

Chin tremor in full-term neonate after hypoxia / Tremor de mento em recém-nascido no termo após hipóxia neonatal

CONTEXT: Newborns may present a range of motor phenomena that are not epileptic in nature. Chin tremor is an unusual movement disorder that typically starts in early childhood and may be precipitated by stress and emotion. Its pathophysiology has not been fully elucidated. CASE REPORT: We describe a full-term newborn that, immediately after neonatal anoxia, presented body and chin tremors that were unresponsive to anti-epileptic drugs. Subsequent neurological evaluation revealed signs of pyramidal tract damage and chin tremor triggered by percussion and crying. We discuss the hypothesis that the anatomopathological abnormality may lie at the level of the higher cortical centers or midbrain. CONCLUSIONS: Further studies are needed in order to gain greater comprehension of neonatal tremors. Recognition of the various etiological possibilities and consequent management of treatable causes is essential for care optimization.

CONTEXTO: O recém-nascido está sujeito a uma gama de fenômenos motores de natureza não epiléptica. O tremor do mento é um distúrbio do movimento incomum que tem início habitual na infância e pode ser precipitado por estresse e emoção. Sua fisiopatologia não foi completamente elucidada. RELATO DE CASO: Descrevemos um recém-nascido no termo, que, após anóxia neonatal, apresentou tremor de corpo e mento não responsivo ao uso de drogas antiepilépticas. A avaliação neurológica posterior revelou sinais de lesão do trato piramidal e tremor de mento desencadeado por choro e percussão. Discutimos a hipótese de que as alterações anatomopatológicas estejam localizadas no mesencéfalo ou centros corticais superiores. CONCLUSÕES: São necessários novos estudos para maior compreensão dos tremores em recém-nascidos. O reconhecimento das diversas possibilidades etiológicas e o decorrente manejo das causas tratáveis são essenciais para a otimização do atendimento.

Síndrome de Guillain-Barré em associação temporal com a vacina influenza A / Guillain-Barré syndrome in temporal association with influenza A vaccine

OBJETIVO:Descrever um caso de síndrome de Guillain-Barré em associação temporal com a vacina influenza A (H1N1) 2009. DESCRIÇAO DO CASO: Menino de quatro anos com queixa inicial de dor em coxa direita e perda de força muscular ascendente 15 dias após a segunda dose da vacina influenza A (H1N1) 2009. Ao exame neurológico apresentava tetraparesia e arreflexia, com predomínio em membros inferiores. A eletroneuromiografia evidenciou redução da velocidade e bloqueio de condução neuronal, com discreta perda axonal secundária. Foi tratado com imunoglobulina por via intravenosa, atingiu platô no quarto dia de evolução da doença e, depois, houve melhora progressiva da força muscular. COMENTÁRIOS: Com o emprego em larga escala da vacina influenza A (H1N1) 2009 em nosso meio e os dados preliminares do sistema de vigilância norte-americano mostrando associação temporal significante com a síndrome de Guillain-Barré, recomenda-se a descrição dos casos suspeitos dessa associação. A vacina continua sendo o método mais efetivo para prevenir doença grave e morte por influenza.

OBJECTIVE: To report a case of Guillain-Barré syndrome following influenza A (H1N1) 2009 vaccine. CASE DESCRIPTION: A four-year-old boy presented right thigh pain and ascending muscular weakness 15 days after the second dose of influenza A (H1N1) 2009 vaccine. The neurological examination revealed tetraparesis and areflexia. Electroneuromyography showed lower velocity and conduction blockage with small secondary axonal loss. Treated with intravenous immunoglobulin, the patient reached a plateau in the 4th day, followed by progressive muscular strength improvement. COMMENTS: The employment of large-scale influenza A (H1N1) 2009 vaccination and the preliminary reports from the American Surveillance Program suggest a significant association between Guillain-Barré syndrome and influenza A H1N1 2009 vaccination. All suspected cases of this association should be published for further evaluation. Vaccination remains the most effective method to prevent serious illness and death related to influenza.

Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms.

A five-and-a-half-year-old girl started experiencing progressive left hemiparesis at age two and a half years. At age five years and four months she started presenting clusters of asymmetric periodic epileptic spasms with no hypsarrhythmia. The ictal EEG showed periodic, constant and stereotyped complexes. Serial brain imaging revealed progressive atrophy of the right hemisphere with increased T2 signal on MRI. She underwent a right hemispherotomy, and histological examination showed signs of inflammation and features of focal cortical dysplasia (FCD). She has been seizure-free for 16 months. This case is unique in the following aspects: the presence of typical Rasmussen encephalitis features of progressive unilateral brain involvement without seizures, a delay of almost three years prior to seizure onset; an atypical seizure type presentation with periodic epileptic spasms and the presence of FCD associated with inflammatory changes. [Published with video sequences].

Perfil de pacientes com disrafismos espinhais atendidos em ambulatório de pediatria geral / Profile of patients with spinal dysraphism from an outpatient clinic

Objetivo: Descrever o perfil clínico dos pacientes portadores de disrafismos espinhais atendidos no ambulatório de Pediatria Geral do Hospital São Paulo - Universidade Federal de São Paulo. Método: Estudo retrospectivo de 61 pacientes com diagnóstico de disrafismo atendidos no período de 1997 a 2007. Resultados: Dentre os 61 pacientes, 32 (52,5%) eram do sexo masculino, e a idade de início no serviço apresentou mediana de 3 meses. O número médio de consultas por paciente foi de 1 a cada 2,5 meses. Em relação ao último atendimento, 33 (54,0%) pacientes encontravam-se eutróficos, 56 (91,8%) estavam com a vacinação em dia, 47 (77,0%) apresentavam alimentação adequada e desenvolvimento neuropsicomotor de acordo com o esperado foi verificado em 25 (40,9%). Os diagnósticos mais prevalentes foram: meningomielocele em 57 (93,4%) doentes;...

Objectives: To describe the clinical profile of patients with spinal dysraphism enrolled in a pediatric outpatient clinic in the Federal University of São Paulo. Methods: A retrospective data gthering was conducted in the patients files classified under the diagnosis of spinal dysraphism from the period of 1997 to 2007. Results: In a 61 sample, 32 (52.5%) were male. Initial age of follow up had a three months median. Appointments were schedule in average every 2.5 months. Also, regarding the last appointment: 33 (54.0%) were eutrophic, vaccination was due in 56 cases (91.8%), adequate dietetic behavior was founded in 47 (77.0%) and development delay in 25 (40.9%) patients. The most prevalent diagnosis was myelomeningocele 57 (93.4%) patients; followed by hydrocephalus 48 (78.6%); recurrent urinary tract infection 29 (47.5%); neurogenic bladder dysfunction 28 (45.9%); orthopedic deformities 25 (40.9%) and constipation 16 (26.2%)...