Autism and Down syndrome: early identification and diagnosis.

BACKGROUND: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

Autism and Down syndrome: early identification and diagnosis / Autismo e síndrome de Down: identificação precoce e diagnóstico

ABSTRACT Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

RESUMO Antecedentes: O diagnóstico de autismo na síndrome de Down é subestimado, sendo necessário entender quais aspectos do fenótipo comportamental estão relacionados à síndrome de Down e quais são do autismo. Objetivo: Revisão Sistemática da Literatura sobre identificação precoce e diagnóstico do Transtorno do Espectro Autista em pacientes com síndrome de Down. Fonte de dados: Busca nas bases BVS, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science e Embase e avaliação pelo PRISMA. Síntese dos dados : De 1.729 artigos avaliados, foram selecionados 15. Apesar de ser bastante estudada, a identificação do transtorno do espectro do autismo na síndrome de Down pode ser difícil devido a compreensão de quais aspectos do fenótipo comportamental estão relacionados à síndrome de Down e quais são do autismo. Nessa revisão foi encontrada variação na prevalência de 12% a 41%. A identificação precoce de risco de autismo na síndrome de Down é pouco estudada mesmo existindo instrumentos de triagem para lactentes. Sobre o diagnóstico do autismo na síndrome de Down foram encontrados diversos instrumentos, mas é necessária abordagem desenvolvimental para um diagnóstico apurado. Conclusões: É destacada a importância de procedimentos de triagem de sinais precoces de risco de autismo ainda no primeiro ano de vida. São para estabelecimento do diagnóstico a escolha de instrumentos para a avaliação do desenvolvimento e cognição, análise dos aspectos qualitativos da interação social, dentre outros. A detecção precoce e o diagnóstico preciso no tempo correto e uma intervenção poderão beneficiar o desenvolvimento, a qualidade de vida e inclusão social.

The potential impact of the COVID-19 pandemic on child growth and development: a systematic review.

OBJECTIVE: This was a systematic review of studies that examined the impact of epidemics or social restriction on mental and developmental health in parents and children/adolescents. SOURCE OF DATA: The PubMed, WHO COVID-19, and SciELO databases were searched on March 15, 2020, and on April 25, 2020, filtering for children (0-18 years) and humans. SYNTHESIS OF DATA: The tools used to mitigate the threat of a pandemic such as COVID-19 may very well threaten child growth and development. These tools - such as social restrictions, shutdowns, and school closures - contribute to stress in parents and children and can become risk factors that threaten child growth and development and may compromise the Sustainable Development Goals. The studies reviewed suggest that epidemics can lead to high levels of stress in parents and children, which begin with concerns about children becoming infected. These studies describe several potential mental and emotional consequences of epidemics such as COVID-19, H1N1, AIDS, and Ebola: severe anxiety or depression among parents and acute stress disorder, post-traumatic stress, anxiety disorders, and depression among children. These data can be related to adverse childhood experiences and elevated risk of toxic stress. The more adverse experiences, the greater the risk of developmental delays and health problems in adulthood, such as cognitive impairment, substance abuse, depression, and non-communicable diseases. CONCLUSION: Information about the impact of epidemics on parents and children is relevant to policy makers to aid them in developing strategies to help families cope with epidemic/pandemic-driven adversity and ensure their children's healthy development.

Síndrome de Burnout: consequências e implicações de uma realidade cada vez mais prevalente na vida dos profissionais de saúde / Burnout Syndrome: consequences and implications of an increasingly prevalent reality in health professionals' lives

Contexto: A Síndrome de Burnout (SB) é a resposta prolongada ao estresse crônico no trabalho. Verifica-se que profissionais de saúde são susceptíveis a desenvolver tal síndrome, pois cotidianamente lidam com intensas emoções, cargas excessivas de trabalho e situações estressantes. Objetivo: Descrever as consequências e as implicações da SB nos profissionais de saúde, uma vez que tal acometimento vem mostrando-se cada vez mais prevalente e incidente. Métodos: Revisão sistemática da literatura do período de 2005­2015, utilizando as bases de dados Medline , LILACS e SciELO. Os descritores foram obtidos por meio do MeSH e DeCs, sendo: "esgotamento profissional", "consequências", "pessoal de saúde", "estresse psicológico" e "médicos", nos idiomas português, inglês e espanhol, totalizando 27 artigos. Como critério de inclusão foram utilizados artigos que focassem nas consequências da SB. E excluídos estudos em que os profissionais de saúde apresentavam outros transtornos psicológicos e/ou psiquiátricos. Resultados: A SB foi relatada por cerca de 40 a 60% dos profissionais de saúde avaliados, a qual acarreta consequências como exaustão emocional, baixo rendimento profissional e despersonalização, ocasionando efeitos secundários aos ambientes profissional e social. Conclusão: Devido à sua alta incidência ­ porém com dados ainda escassos sobre prevalência ­, a SB tornou-se um problema de saúde pública em vários países, incluindo o Brasil. É necessário diagnóstico preciso e precoce, bem como estimativa detalhada da prevalência da síndrome para que suas consequências sejam prevenidas, diminuídas e/ou sanadas.

Context: Burnout Syndrome (BS) is a prolonged response to chronic stress at work. Health professionals are more prone to develop this syndrome, as they frequently handle intense emotions, excessive workloads, and stressful situations. Objective: To describe the consequences and implications of the BS among health professionals, owing to its increased prevalence and incidence. Methods: A systematic literature review of 2005­2015 publications was carried out using databases Medline , LILACS, and SciELO. The following descriptors were retrieved from MeSH and DeCS in Portuguese, English, and Spanish languages: "burnout," "consequences," "health professionals," "psychological stress," and "physicians," totaling 27 articles. The inclusion criteria were articles focused on the consequences of BS and the exclusion criteria were articles which investigated other psychological and/or psychiatric disorders among health professionals. Results: The BS was reported by 40 to 60% of health professionals assessed. This syndrome led to emotional exhaustion, poor performance, and depersonalization, and caused secondary effects to the professional and social environment. Conclusion: Owing to its high impact, and despite the scarce data on its prevalence, the BS has become a public health issue in several countries, including Brazil. BS early and precise diagnosis and detailed prevalence estimates are necessary to avoid, minimize, or solve the syndrome consequences.

Alimentação, fotoexposição e suplementação:influência nos níveis séricos de vitamina D / Diet, sun exposure, and dietary supplementation: effect on serum levels of vitamin D

A vitamina D possui forma biologicamente ativa, o calcitriol, que regula o crescimento e a diferenciação celular, previne progressão e apoptose de células cancerígenas e reduz a proliferação e as metástases. Sua deficiência, a hipovitaminose D, é comum, e cursa comhipocalcemia, hipofosfatemia e osteoporose. Dada a importância desse nutriente, delineou-se este estudo para descrever os fatores que influenciam os níveis séricos de vitamina D, como fotoexposição, alimentação e suplementação dietética. Trata-se de revisão realizadaem Belo Horizonte, pesquisando o termo vitamina D nas bases de dados PUBMED, SCIELO, CAPES, BIREME e Up To Date, totalizando 22 artigos no período compreendido entre 1983 e 2013. Observou-se que é escassa a literatura sobre o assunto, principalmente no que se refere a esclarecimento das contradições sobre os fatores de risco e que essa escassez é mais evidente em regiões tropicais como o Brasil. Concluiu-se que estudos sobre esse assunto são importantes para direcionar melhor a conduta e o tratamento da hipovitaminose D.

Vitamin D has a biologically active form, calcitriol, which regulates cell growth and differentiation, prevents progression and apoptosis of cancer cells, and reduces proliferation and metastasis. Its deficiency, hypovitaminosis D, is common and courses with hypocalcemia, hypophosphatemia, and osteoporosis. Given the importance of this nutrient, this study was outlined to describe the factors that influence serum levels of vitamin D such as sun exposure, diet, anddietary supplementation. This was a review conducted in Belo Horizonte by searching the term vitamin D in the PUBMED, SCIELO, CAPES, BIREME, and Up To Date databases, totaling 22 articles published between 1983 and 2013. It was observed that the literature is scarce on thesubject, particularly in regards to clarification of contradictions about risk factors and that this scarcity is more evident in tropical regions such as Brazil. It was concluded that studies on this subject are important to improve the conduct and treatment related to hypovitaminosis D.

Há lugar para o uso de probióticos na prevenção e no tratamento da dermatite atópica pediátrica? / Can probiotics play a role in the prevention and treatment of pediatric atopic dermatiti

A dermatite atópica (DA) é a doença dermatológica crônica mais frequente na infância e traz impacto negativo na qualidade de vida do paciente e de seus familiares. Os probióticos surgem como uma nova opção terapêutica, pela sua capacidade de modulação da reposta imunológica do hospedeiro, produzindo benefícios à saúde. Realizou-se uma busca nas plataformas de dados científicos PubMed, SciELO e Cochrane, apurando estudos nos idiomas português, inglês e espanhol. Baseado nos bancos de descritores DeCS e MeSH foram utilizadas as seguintes palavras/expressões: probiotics, probiotics and atopic dermatitis, atopic dermatitis and child e suas correspondentes nas demais línguas, sendo selecionados estudos entre 1993 e 2014. Considerando o papel dos probióticos na prevenção da DA, foram encontrados sete ensaios clínicos randomizados, sendo que quatro destes apresentaram desfecho positivo e os demais foram inconclusivos. Avaliando-se as possibilidades terapêuticas dos probióticos, cinco dos sete estudos analisados evidenciaram que a imunomodulação exercida pelas cepas probióticas tem melhor resposta à DA, além de menos efeito colateral que o obtido com o uso de corticoides e imunossupressores sistêmicos. O uso de probióticos na prevenção e no tratamento da DA mostrou-se seguro e eficaz, com descrição de efeitos colaterais em apenas um estudo. É possível que a suplementação com probióticos alcance seu lugar no manejo clínico da DA, podendo ser uma alternativa mais interessante e menos onerosa se comparada à terapia conservadora utilizada atualmente.

Atopic dermatitis (AD) is the most common chronic skin disease in childhood and it causes negative effect on patients? and their families? quality of life. The probiotics arise as a new therapeutic option for their ability to modulate the host?s immune response and produce benefits on their health. The authors searched on the scientific databases PubMed, SciELO and Cochrane, assessing studies in Portuguese, English and Spanish. Based on the descriptive databases of MeSH and DeCS, the following words/ phrases were used: probiotics, probiotics and atopic dermatitis, atopic dermatitis and child and their correspondents in other languages, studies were selected between 1993 and 2014. Considering the role of probiotics in the prevention of AD, seven randomized controlledtrials were found, four of those had a positive outcome and the others were inconclusive. Evaluating probiotics? therapeutic potential, five of the seven analyzed studies showed that the immunomodulation exerted by probiotic strains has a better answer for AD, as well as minor side effects than those obtained with the use of systemic corticosteroids and immunosuppressants. The use of probiotics in the prevention and treatment of AD proved to be safe and effective, being that side effects have been reported in only one study. It is possible that supplementation with probiotics can play a role in the clinical management of AD, being a more interesting and less expensive alternative compared to conservative therapy currently used

Abordagem da dermatite atópica na infância pelo Médico de Família e Comunidade / Approach to atopic dermatitis in children by the Family Physician / Enfoque de la dermatitis atópica em niños por el Médico de Familia y Comunidad

Dermatite atópica (DA) é uma inflamação crônica e pruriginosa da pele, que acomete crianças nos primeiros anos de vida. Sua etiologia permanece pouco elucidada, mas sabe-se que ocorre uma disfunção da barreira cutânea que facilita a penetração de alérgenos/irritantes na epiderme, provocando reação inflamatória com predomínio de resposta Th2 em relação a Th1. O diagnóstico é clínico, podendo associar-se com a presença de história familiar e pregressa de atopias, como rinite e asma. A DA manifesta-se por meio de lesões eczematosas, pruriginosas, com presença de eritema, pápulas, vesículas e escamas. Os principais diagnósticos diferenciais são dermatite seborreica, dermatite de contato, psoríase e escabiose. O tratamento baseia-se na educação do paciente e de seus familiares, somado ao controle do prurido com anti-histamínicos e da inflamação com corticoides e inibidores da calcineurina. Devido à alta prevalência e impacto da DA na qualidade de vida de crianças, corrobora-se a importância do diagnóstico precoce e de uma abordagem individualizada.

Atopic dermatitis (AD) is a chronic and inflammatory disease that affects the skin of children in their early stages of life. Its aetiology remains little understood, but it is known that there is a dysfunction of the skin barrier, which facilitates the penetration of allergens/irritants into the epidermis, causing an inflammatory response with a predominance of Th2 response relative to Th1. The diagnosis is clinical and may be associated with previous and family medical history of atopies such as rhinitis and asthma. AD manifests itself through eczematous, pruritic injuries with the presence of erythema, papules, vesicles, and scales. The main differential diagnoses of AD are seborrheic dermatitis, contact dermatitis, psoriasis and scabies. The treatment is based on the education of patients and their families, plus the control of pruritus with antihistamines and of inflammation with corticosteroids or calcineurin inhibitors. Given the high prevalence and impact of AD on the quality of life of paediatric patients, early diagnosis and an individualized approach are paramount.

La dermatitis atópica (DA) es una enfermedad crónica e inflamatorio en la piel, que afecta a los niños en los primeros años de vida. Su etiología sigue siendo poco dilucidado, pero se sabe que existe una disfunción de la barrera de la piel que facilita la penetración de alérgeno/irritante sobre la piel, causando una reacción inflamatoria con predominante respuesta Th2 hacia Th1. El diagnóstico es clínico y puede estar asociado con la presencia de la historia familiar y la historia anterior de enfermedades atópicas, tales como la rinitis y el asma. La DA se manifiesta a través de lesiones eczematosas y pruriginosas, la presencia de eritema, pápulas, vesículas y escamas. Los principales diagnósticos diferenciales son dermatitis seborreica, dermatitis de contacto, la psoriasis y la sarna. El tratamiento se basa en la educación de los pacientes y sus familias, además del control del prurito con antihistamínicos y la inflamación con corticoides y los inhibidores de la calcineurina. Dada la alta prevalencia y el impacto de la DA en la calidad de vida de los pacientes pediátricos, corroborase la importancia del diagnóstico precoz y un enfoque individualizado.