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[PMID]: 23530387 [Au] Autor: Miller EJ [Ad] Endereço: Gentle Touch Parent-Child Program LLC, Asheville, North Carolina 28806, USA. Emma@GentleTouchParent-Child.com [Ti] Título: Surveillance for behavioral health problems and developmental disabilities in pediatric primary care. [So] Source: N C Med J;74(1):63-4, 2013 Jan-Feb. [Is] ISSN: 0029-2559 [Cp] País de publicação: United States [La] Idioma: eng [Mh] Termos MeSH primário: Transtornos do Comportamento Infantil/epidemiologia Deficiências do Desenvolvimento/epidemiologia Pediatria/organização & administração Atenção Primária à Saúde/organização & administração Vigilância de Evento Sentinela [Mh] Termos MeSH secundário: Adolescente Criança Promoção da Saúde Humanos Saúde Mental [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 130327 [St] Status: MEDLINE

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[PMID]: 23530384 [Au] Autor: Shapiro CJ [Ad] Endereço: University of South Carolina, Institute for Families in Society, 1600 Hampton St, 5th FI, Columbia, SC 29208, USA. cshapiro@mailbox.sc.edu [Ti] Título: Behavioral kernels and brief interventions: teaching parents effective behavior management strategies. [So] Source: N C Med J;74(1):57-9, 2013 Jan-Feb. [Is] ISSN: 0029-2559 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Reducing the high prevalence of emotional and behavioral problems among youth requires that parents be given access to high-quality, effective parenting supports and interventions. Recently developed brief parenting interventions can be delivered without stigma in primary health care and other settings by a range of professionals. [Mh] Termos MeSH primário: Terapia Comportamental/educação Terapia Comportamental/métodos Transtornos do Comportamento Infantil/terapia Pátrio Poder Pais/educação [Mh] Termos MeSH secundário: Criança Transtornos do Comportamento Infantil/prevenção & controle Humanos [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 130327 [St] Status: MEDLINE

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[PMID]: 22707356 [Au] Autor: Zatz M; Pavanello Rde C; Lourenço NC; Cerqueira A; Lazar M; Vainzof M [Ad] Endereço: Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Universidade de São Paulo, Rua do Matão, 106, Cidade Universitária, São Paulo, SP, 05508-090, Brazil. mayazatz@usp.br [Ti] Título: Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. [So] Source: Neuromolecular Med;14(4):281-4, 2012 Dec. [Is] ISSN: 1559-1174 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without muscle weakness, in whom a whole-genome CGH revealed a deletion of exons 38-44 in the dystrophin gene. This mutation was inherited from her asymptomatic father, who was further clinically and molecularly evaluated for prognosis and genetic counseling (GC). This deletion was never identified by us in 982 Duchenne/Becker patients. To assess whether the present case represents a rare case of non-penetrance, and aiming to obtain more information for prognosis and GC, we suggested that healthy older relatives submit their DNA for analysis, to which several complied. Mutation analysis revealed that his mother, brother, and 56-year-old maternal uncle also carry the 38-44 deletion, suggesting it an unlikely cause of muscle weakness. Genome sequencing will disclose mutations and variants whose health impact are still unknown, raising important problems in interpreting results, defining prognosis, and discussing GC. We suggest that, in addition to family history, keeping the DNA of older relatives could be very informative, in particular for those interested in having their genome sequenced. [Mh] Termos MeSH primário: Bancos de Espécimes Biológicos Cromossomos Humanos X/genética Coloboma/genética DNA/genética Distrofina/genética Facies Variação Genética/genética Perda Auditiva Bilateral/genética Perda Auditiva Neurossensorial/genética Deleção de Sequência [Mh] Termos MeSH secundário: Adulto Doenças Assintomáticas Biópsia Causalidade Criança Transtornos do Comportamento Infantil/genética Transtornos Cognitivos/genética Hibridização Genômica Comparativa Distrofina/fisiologia Éxons/genética Feminino Humanos Achados Incidentais Masculino Meia-Idade Músculo Esquelético/patologia Linhagem [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 0 (DMD protein, human); 0 (Dystrophin); 9007-49-2 (DNA) [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121126 [St] Status: MEDLINE [do] DOI: 10.1007/s12017-012-8186-x

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[PMID]: 23084781 [Au] Autor: Fulcher A; Purcell AA; Baker E; Munro N [Ad] Endereço: The Shepherd Centre, Sydney, Australia. anne.fulcher@sydney.edu.au [Ti] Título: Listen up: children with early identified hearing loss achieve age-appropriate speech/language outcomes by 3 years-of-age. [So] Source: Int J Pediatr Otorhinolaryngol;76(12):1785-94, 2012 Dec. [Is] ISSN: 1872-8464 [Cp] País de publicação: Ireland [La] Idioma: eng [Ab] Resumo: OBJECTIVES: Age-appropriate speech/language outcomes for children with early identified hearing loss are a possibility but not a certainty. Identification of children most likely to achieve optimal outcomes is complicated by the heterogeneity of the children involved in outcome research, who present with a range of malleable (e.g. age of identification and cochlear implantation, type of intervention, communication mode) and non-malleable (e.g. degree of hearing loss) factors. This study considered whether a homogenous cohort of early identified children (≤ 12 months), with all severities of hearing loss and no other concomitant diagnoses could not only significantly outperform a similarly homogenous cohort of children who were later identified (>12 months to <5 years), but also achieve and maintain age-appropriate speech/language outcomes by 3, 4 and 5 years of age. METHODS: A mixed prospective/retrospective comparative study of a homogenous cohort of 45 early identified (≤ 12 months) and 49 late identified (> 12 months to < 5 years) children with hearing loss was conducted. The children all attended the same oral auditory-verbal early intervention programme. Speech/language assessments standardized on typically developing hearing children were conducted at 3, 4 and 5 years of age. RESULTS: The early identified children significantly outperformed the late identified at all ages and for all severities of HL. By 3 years of age, 93% of all early identified participants scored within normal limits (WNL) for speech; 90% were WNL for understanding vocabulary; and 95% were WNL for receptive and expressive language. Progress was maintained and improved so that by 5 years of age, 96% were WNL for speech, with 100% WNL for language. CONCLUSIONS: This study found that most children with all severities of hearing loss and no other concomitant diagnosed condition, who were early diagnosed; received amplification by 3 months; enrolled into AV intervention by 6 months and received a cochlear implant by 18 months if required, were able to "keep up with" rather than "catch up to" their typically hearing peers by 3 years of age on measures of speech and language, including children with profound hearing loss. By 5 years, all children achieved typical language development and 96% typical speech. [Mh] Termos MeSH primário: Linguagem Infantil Intervenção Precoce (Educação) Perda Auditiva/reabilitação Transtornos do Desenvolvimento da Linguagem/reabilitação Distúrbios da Fala/reabilitação Comportamento Verbal [Mh] Termos MeSH secundário: Fatores Etários Austrália Pré-Escolar Implantes Cocleares Estudos de Coortes Correção de Deficiência Auditiva/métodos Diagnóstico Precoce Feminino Auxiliares de Audição Perda Auditiva/diagnóstico Perda Auditiva/cirurgia Humanos Transtornos do Desenvolvimento da Linguagem/etiologia Transtornos do Desenvolvimento da Linguagem/fisiopatologia Masculino Prognóstico Estudos Prospectivos Distúrbios da Fala/etiologia Distúrbios da Fala/fisiopatologia Inteligibilidade da Fala Resultado de Tratamento Vocabulário [Pt] Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121116 [St] Status: MEDLINE

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[PMID]: 23049896 [Au] Autor: Kim DS; Stanaway IB; Rajagopalan R; Bernbaum JC; Solot CB; Burnham N; Zackai EH; Clancy RR; Nicolson SC; Gerdes M; Nickerson DA; Hakonarson H; Gaynor JW; Jarvik GP [Ad] Endereço: Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington, USA. [Ti] Título: Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. [So] Source: PLoS One;7(9):e45936, 2012. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: BACKGROUND: Adverse neurodevelopmental sequelae are reported among children who undergo early cardiac surgery to repair congenital heart defects (CHD). APOE genotype has previously been determined to contribute to the prediction of these outcomes. Understanding further genetic causes for the development of poor neurobehavioral outcomes should enhance patient risk stratification and improve both prevention and treatment strategies. METHODS: We performed a prospective observational study of children who underwent cardiac surgery before six months of age; this included a neurodevelopmental evaluation between their fourth and fifth birthdays. Attention and behavioral skills were assessed through parental report utilizing the Attention Deficit-Hyperactivity Disorder-IV scale preschool edition (ADHD-IV), and Child Behavior Checklist (CBCL/1.5-5), respectively. Of the seven investigated, three neurodevelopmental phenotypes met genomic quality control criteria. Linear regression was performed to determine the effect of genome-wide genetic variation on these three neurodevelopmental measures in 316 subjects. RESULTS: This genome-wide association study identified single nucleotide polymorphisms (SNPs) associated with three neurobehavioral phenotypes in the postoperative children ADHD-IV Impulsivity/Hyperactivity, CBCL/1.5-5 PDPs, and CBCL/1.5-5 Total Problems. The most predictive SNPs for each phenotype were: a LGALS8 intronic SNP, rs4659682, associated with ADHD-IV Impulsivity (P=1.03 × 10(-6)); a PCSK5 intronic SNP, rs2261722, associated with CBCL/1.5-5 PDPs (P=1.11 × 10(-6)); and an intergenic SNP, rs11617488, 50 kb from FGF9, associated with CBCL/1.5-5 Total Problems (P=3.47 × 10(-7)). 10 SNPs (3 for ADHD-IV Impulsivity, 5 for CBCL/1.5-5 PDPs, and 2 for CBCL/1.5-5 Total Problems) had p<10(-5). CONCLUSIONS: No SNPs met genome-wide significance for our three neurobehavioral phenotypes; however, 10 SNPs reached a threshold for suggestive significance (p<10(-5)). Given the unique nature of this cohort, larger studies and/or replication are not possible. Studies to further investigate the mechanisms through which these newly identified genes may influence neurodevelopment dysfunction are warranted. [Mh] Termos MeSH primário: Estudo de Associação Genômica Ampla [Mh] Termos MeSH secundário: Apolipoproteínas E/genética Transtorno do Deficit de Atenção com Hiperatividade/genética Procedimentos Cirúrgicos Cardíacos/métodos Transtornos do Comportamento Infantil/genética Pré-Escolar Estudos de Coortes Deficiências do Desenvolvimento/complicações Deficiências do Desenvolvimento/genética Feminino Seguimentos Genótipo Cardiopatias/cirurgia Humanos Masculino Modelos Genéticos Fenótipo Estudos Prospectivos Risco Resultado de Tratamento [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 0 (Apolipoproteins E) [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121010 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0045936

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[PMID]: 22699986 [Au] Autor: Cruz I; Vicaria I; Wang NY; Niparko J; Quittner AL; CDaCI Investigative Team [Ad] Endereço: Department of Otolaryngology, University of Miami, Miami, Florida 33136, USA. icruz@med.miami.edu [Ti] Título: Language and behavioral outcomes in children with developmental disabilities using cochlear implants. [So] Source: Otol Neurotol;33(5):751-60, 2012 Jul. [Is] ISSN: 1537-4505 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: OBJECTIVE: Over the past decade, the number of deaf children with developmental disabilities receiving cochlear implants has increased dramatically. However, little is known about the developmental outcomes of these children post-implantation. The current study evaluated oral language and behavioral outcomes over 3 years after implantation in a sample of typically developing deaf children and children with developmental disabilities. STUDY DESIGN: A three year longitudinal study of the effects of cochlear implantation on language and behavioral outcomes in children with and without additional disabilities. SETTING: Six cochlear implant centers in the United States. PATIENTS: The study cohort consisted of 188 deaf children. Eighty-five percent of the sample (n = 157) had a single diagnosis of severe to profound hearing loss and 15% (n = 31) had an additional disability. MAIN OUTCOME MEASURES: Oral language was assessed using the Reynell Developmental Language Scales, and behavioral outcomes were assessed using the Child Behavior Checklist. RESULTS: Results using multilevel modeling indicated that deaf children with and without additional disabilities improved significantly in oral language skills post-implantation. However, children with additional disabilities made slower progress. In terms of specific diagnoses, children with developmental disorders, such as autism, made the slowest progress over time. In addition, behavior problems increased significantly in this group, whereas behavior problems decreased over 3 years in the typically developing deaf sample. CONCLUSION: Overall, given the improvements in expressive and receptive language skills documented over 3 years, these findings support the use of cochlear implants for deaf children with developmental disabilities. [Mh] Termos MeSH primário: Comportamento Infantil/psicologia Implantes Cocleares Deficiências do Desenvolvimento/psicologia Perda Auditiva Neurossensorial/psicologia Desenvolvimento da Linguagem Linguagem [Mh] Termos MeSH secundário: Pré-Escolar Implante Coclear Deficiências do Desenvolvimento/complicações Deficiências do Desenvolvimento/cirurgia Feminino Perda Auditiva Neurossensorial/complicações Perda Auditiva Neurossensorial/cirurgia Humanos Lactente Estudos Longitudinais Masculino Resultado de Tratamento [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL [Em] Mês de entrada: 1211 [Cu] Atualização por classe: 130506 [Lr] Data última revisão: 130506 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 120615 [St] Status: MEDLINE [do] DOI: 10.1097/MAO.0b013e3182595309

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[PMID]: 21737364 [Au] Autor: Datta Gupta N; Deding M; Lausten M [Ad] Endereço: Aarhus University, Denmark. ndg@asb.dk [Ti] Título: The effect of low birth weight on height, weight and behavioral outcomes in the medium-run. [So] Source: Econ Hum Biol;11(1):42-55, 2013 Jan. [Is] ISSN: 1873-6130 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: A number of studies have documented negative long term effects of low birth weight. Yet, not much is known about the dynamics of the process leading to adverse health and educational outcomes in the long run. While previous studies focusing mainly on LBW effects on physical growth and cognitive outcomes have found effects of the same size at both school age and young adulthood, others have found a diminishing negative effect over time. The purpose of this paper was to bring new evidence to this issue by analyzing the medium run effects of low birth weight on child behavioral outcomes as well as physical growth at ages 6 months, 3, 7 and 11 years using data from the Danish Longitudinal Survey of Children. Observing the same children at different points in time enabled us to chart the evolution of anthropometric and behavioral deficits among children born with low birth weight and helped understanding the nature and timing of interventions. [Mh] Termos MeSH primário: Comportamento Estatura Peso Corporal Recém-Nascido de Baixo Peso [Mh] Termos MeSH secundário: Fatores Etários Criança Transtornos do Comportamento Infantil/epidemiologia Pré-Escolar Dinamarca Feminino Idade Gestacional Nível de Saúde Humanos Lactente Recém-Nascido Estudos Longitudinais Masculino Sexo Comportamento Social Fatores Socioeconômicos [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121130 [St] Status: MEDLINE

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[PMID]: 22699997 [Au] Autor: Viegas CM; Busanello EN; Tonin AM; Grings M; Moura AP; Ritter L; Zanatta A; Knebel LA; Lobato VA; Pettenuzzo LF; Vargas CR; Leipnitz G; Wajner M [Ad] Endereço: Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, Rua Ramiro Barcelos, 2600 - Anexo, CEP: 90035-003, Porto Alegre, RS, Brazil. [Ti] Título: Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task. [So] Source: Metab Brain Dis;27(4):479-86, 2012 Dec. [Is] ISSN: 1573-7365 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Hyperornithinemia is the biochemical hallmark of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an inherited metabolic disease clinically characterized by mental retardation whose pathogenesis is still poorly known. In the present work, we produced a chemical animal model of hyperornithinemia induced by a subcutaneous injection of saline-buffered Orn (2-5 µmol/g body weight) to rats. High brain Orn concentrations were achieved, indicating that Orn is permeable to the blood brain barrier. We then investigated the effect of early chronic postnatal administration of Orn on physical development and on the performance of adult rats in the open field, the Morris water maze and in the step down inhibitory avoidance tasks. Chronic Orn treatment had no effect on the appearance of coat, eye opening or upper incisor eruption, nor on the free-fall righting reflex and on the adult rat performance in the Morris water maze and in the inhibitory avoidance tasks, suggesting that physical development, aversive and spatial localization were not changed by Orn. However, Orn-treated rats did not habituate to the open field apparatus, implying a deficit of learning/memory. Motor activity was the same for Orn- and saline- injected animals. We also verified that Orn subcutaneous injections provoked lipid peroxidation in the brain, as determined by a significant increase of thiobarbituric acid-reactive substances levels. Our results indicate that chronic early postnatal hyperornithinemia may impair the central nervous system, causing minor disabilities which result in specific learning deficiencies. [Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/induzido quimicamente Transtornos de Aprendizagem/induzido quimicamente Transtornos de Aprendizagem/psicologia Ornitina/toxicidade [Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Aminoácidos/psicologia Amônia/sangue Animais Animais Recém-Nascidos Aprendizagem da Esquiva/efeitos de drogas Comportamento Animal/efeitos de drogas Citrulina/análogos & derivados Citrulina/sangue Cognição/efeitos de drogas Cognição/fisiologia Deficiências do Desenvolvimento/induzido quimicamente Modelos Animais de Doenças Meia-Vida Aprendizagem em Labirinto/efeitos de drogas Memória/efeitos de drogas Memória de Longo Prazo/efeitos de drogas Ornitina/farmacocinética Equilíbrio Postural/efeitos de drogas Ratos Ratos Wistar Substâncias Reativas com Ácido Tiobarbitúrico/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Thiobarbituric Acid Reactive Substances); 1190-49-4 (homocitrulline); 372-75-8 (Citrulline); 7006-33-9 (Ornithine); 7664-41-7 (Ammonia) [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121115 [St] Status: MEDLINE [do] DOI: 10.1007/s11011-012-9322-x

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[PMID]: 22791278 [Au] Autor: Lambert BL; Bauer CR [Ad] Endereço: Department of Psychology, University of Miami, Coral Gables, FL, USA. blambert@psy.miami.edu [Ti] Título: Developmental and behavioral consequences of prenatal cocaine exposure: a review. [So] Source: J Perinatol;32(11):819-28, 2012 Nov. [Is] ISSN: 1476-5543 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Substance use among pregnant women continues to be a major public health concern, posing potential risk to their drug-exposed children as well as burdens on society. This review is intended to discuss the most recent literature regarding the association between in utero cocaine exposure and developmental and behavioral outcomes from birth through adolescence across various domains of functioning (growth, neurobiology, intelligence, academic achievement, language, executive functioning, behavioral regulation and psychopathology). In addition, methodological limitations, associated biological, sociodemographic and environmental risk factors and future directions in this area of research are discussed. Given the large number of exposed children in the child welfare system and the increased need for medical, mental health and special education services within this population, more definitively documenting associations between prenatal cocaine exposure and later child outcomes is essential in order to be able to prospectively address the many significant public health, economic and public policy implications. [Mh] Termos MeSH primário: Transtornos Relacionados ao Uso de Cocaína/complicações Efeitos Tardios da Exposição Pré-Natal [Mh] Termos MeSH secundário: Criança Transtornos do Comportamento Infantil/etiologia Desenvolvimento Infantil Educação Especial Função Executiva Feminino Humanos Hidrocortisona/sangue Linguagem Gravidez Efeitos Tardios da Exposição Pré-Natal/sangue Efeitos Tardios da Exposição Pré-Natal/fisiopatologia Efeitos Tardios da Exposição Pré-Natal/reabilitação [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW [Nm] Nome de substância: 50-23-7 (Hydrocortisone) [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121106 [St] Status: MEDLINE [do] DOI: 10.1038/jp.2012.90

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[PMID]: 23154694 [Au] Autor: Hall S; Warren ME [Ad] Endereço: Dept. of Neuropsychiatry and Behavioral Science, University of South Carolina, Columbia, SC, USA. stephall53@gmail.com [Ti] Título: Teaching to improve parent-child interaction: an educational case study. [So] Source: Acad Psychiatry;36(6):465-7, 2012 Nov 1. [Is] ISSN: 1545-7230 [Cp] País de publicação: United States [La] Idioma: eng [Mh] Termos MeSH primário: Terapia Comportamental/educação Transtornos do Comportamento Infantil/terapia Psiquiatria Infantil/educação Relações Pais-Filho [Mh] Termos MeSH secundário: Transtornos de Deficit da Atenção e do Comportamento Diruptivo/psicologia Transtornos de Deficit da Atenção e do Comportamento Diruptivo/terapia Terapia Comportamental/métodos Criança Transtornos do Comportamento Infantil/psicologia Psiquiatria Infantil/métodos Pré-Escolar Currículo Humanos Internato e Residência/organização & administração Pais/educação [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1305 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 121116 [St] Status: MEDLINE [do] DOI: 10.1176/appi.ap.11030042

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