Compreender a genética do autismo tem sido mais difícil do que se esperava na década de 90, quando havia a expectativa de que o estudo do genoma de aproximadamente 300 famílias com indivíduos autistas revelaria rapidamente quais genes estão ligados à predisposição para desenvolver o transtorno. O que já está estabelecido é que o autismo tem uma base genética significativa, não sendo claro, ainda, se os transtornos do espectro autista (TEA) estão mais ligados a mutações raras, mas com efeitos significativos, ou a interações poligênicas raras entre variantes genéticas comuns.
Introdução
O que você precisa saber de cara
A Síndrome de Asperger, agora considerada parte do Transtorno do Espectro Autista (TEA), é caracterizada por dificuldades na interação social e comunicação, além de padrões de comportamento restritos e repetitivos. Indivíduos com Asperger geralmente possuem inteligência e desenvolvimento de linguagem típicos.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — NÃO RARA NA EUROPA: Síndrome Asperger
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Today Is My Day: Analysis of the Awareness Campaigns' Impact on Functional Diversity in the Press, on Google, and on Twitter.
(1) Every day, people with functional diversity face different kinds of difficulties that pose a barrier to their social inclusion. These difficulties often go unnoticed by most citizens. Social networks are a powerful tool to sensitize the population. With this objective, different organizations such as associations, federations, foundations, and other institutions have promoted campaigns through the celebration of world days for different types of functional diversity. This research aims to monitor and analyze the impact of these social campaigns in Spain, including Asperger's syndrome, rare diseases, Down syndrome, autism, hearing and visual impairment, cerebral palsy, dyslexia, ADHD, spina bifida, disability, and dyscalculia world days, between 2015 and 2020. (2) The impact of each campaign on the press, Google, and Twitter has been analyzed using: MyNews, Google Trends, and Trendinalia. (3) The results suggest a close relationship between the impact on the number of pieces of news generated in the press, the searches on Google, and the hashtags in high positions on Twitter. (4) The campaigns with the greatest levels of success are those whose diagnoses involve greater difficulties in adaptive behavior. These results can provide some practical implications for future campaigns.
Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria.
This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger's syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger's syndrome, should be raised among families and healthcare professionals.
The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.
A substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy. The study was approved by the ethical committee of the University of Verona, the coordinating site, and by the local ethical committees of each recruiting site. Certified staff was specifically trained at each site for the overall study conduct, for clinical protocol administration and handling of biological material. A centralized database was developed to collect clinical assessment and medical records from each recruiting site. Children were eligible for recruitment based on the following inclusion criteria: age 4-18 years, at least one parent or legal guardian giving voluntary written consent, meeting DSM-IV criteria for Autistic Disorder or Asperger's Disorder or Pervasive Developmental Disorder NOS. Affected individuals were assessed by full psychiatric, neurological and physical examination, evaluation with ADI-R and ADOS scales, cognitive assessment with Wechsler Intelligence Scale for Children or Preschool and Primary, Leiter International Performance Scale or Griffiths Mental Developmental Scale. Additional evaluations included language assessment, the Krug Asperger's Disorder Index, and instrumental examination such as EEG and structural MRI. DNA, RNA and plasma were collected from eligible individuals and relatives. A central laboratory was established to host the biorepository, perform DNA and RNA extraction and lymphocytes immortalisation. The study has led to an extensive collection of biological samples associated with standardised clinical assessments from a network of expert clinicians and psychologists. Eighteen sites have received ADI/ADOS training, thirteen of which have been actively recruiting. The clinical database currently includes information on 812 individuals from 249 families, and the biorepository has samples for 98% of the subjects. This effort has generated a highly valuable resource for conducting clinical and genetic research of ASD, amenable to further expansion.
Parents' attitudes toward genetic research in autism spectrum disorder.
Genetic research in autism spectrum disorder (ASD) is mainly performed in minors who are legally unable to provide consent. Thus, knowledge of the attitudes, fears, and expectations toward genetic research of the parents is important. Knowledge of the attitudes toward genetic research will improve cooperation between researchers and participants, and help establish confidence in ASD genetic research. The present study aimed to assess these attitudes. Questionnaire-based assessments of attitudes toward genetic research and toward procedures in genetic research of n=1455 parents of individuals with ASD were performed. The main motivation for participation in genetic research is to gain more knowledge of the causes and disease mechanisms of ASD (83.6%), and to contribute toward development of improved treatment in the future (63.7%). The parents also had a positive attitude towards storing genetic information (54.3%) and they requested confidentiality of data (82.9%) and expressed a need to be informed about the purpose (89%) and progress of the research (83.7%). We found a slightly more positive attitude to participation in genetic research among older parents (P=0.015), among fathers compared with mothers (P=0.01), among parents of girls compared with boys (P=0.03), and infantile autism compared with Asperger syndrome (P=0.002). However, linear regression analysis showed that parent and child characteristics seem to have too small an influence on attitudes toward genetic research to be of any relevance (R(2)=0.002-0.02). Parents of children with ASD have, in general, a very positive attitude toward genetic research. Data confidentiality is important, and they express a need for information on the purpose and progress of the research.
Publicações recentes
Mondo: Integrating Disease Terminology Across Communities.
Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents.
📚 EuropePMCmostrando 4
Today Is My Day: Analysis of the Awareness Campaigns' Impact on Functional Diversity in the Press, on Google, and on Twitter.
International journal of environmental research and public healthExplaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria.
Brain sciencesThe Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.
BMC psychiatryParents' attitudes toward genetic research in autism spectrum disorder.
Psychiatric geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Today Is My Day: Analysis of the Awareness Campaigns' Impact on Functional Diversity in the Press, on Google, and on Twitter.
- Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria.
- The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.
- Parents' attitudes toward genetic research in autism spectrum disorder.
- Mondo: Integrating Disease Terminology Across Communities.
- Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1162(Orphanet)
- MONDO:0100610(MONDO)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q161790(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
