É diagnosticado quando a pessoa tem dificuldades específicas para entender ou lidar com informações de forma eficiente e precisa. Esse transtorno geralmente aparece pela primeira vez nos anos de escola e é caracterizado por dificuldades persistentes e que atrapalham o aprendizado de habilidades acadêmicas básicas, como leitura, escrita e/ou matemática. O desempenho da pessoa nessas habilidades acadêmicas afetadas é bem abaixo da média para a idade, ou ela só consegue ter um desempenho aceitável com um esforço enorme. O transtorno específico da aprendizagem pode acontecer mesmo em pessoas consideradas muito inteligentes (superdotadas) e só se manifestar quando as exigências de aprendizado ou as avaliações (como testes com tempo limitado) criam barreiras que não podem ser superadas apenas pela inteligência natural ou por estratégias que a pessoa usa para compensar. Para todas as pessoas, o transtorno específico da aprendizagem pode causar dificuldades duradouras em atividades que dependem dessas habilidades, incluindo o desempenho no trabalho ou nas tarefas do dia a dia.
Introdução
O que você precisa saber de cara
É diagnosticado quando a pessoa tem dificuldades específicas para entender ou lidar com informações de forma eficiente e precisa. Esse transtorno geralmente aparece pela primeira vez nos anos de escola e é caracterizado por dificuldades persistentes e que atrapalham o aprendizado de habilidades acadêmicas básicas, como leitura, escrita e/ou matemática. O desempenho da pessoa nessas habilidades acadêmicas afetadas é bem abaixo da média para a idade, ou ela só consegue ter um desempenho aceitável com um esforço enorme. O transtorno específico da aprendizagem pode acontecer mesmo em pessoas consideradas muito inteligentes (superdotadas) e só se manifestar quando as exigências de aprendizado ou as avaliações (como testes com tempo limitado) criam barreiras que não podem ser superadas apenas pela inteligência natural ou por estratégias que a pessoa usa para compensar. Para todas as pessoas, o transtorno específico da aprendizagem pode causar dificuldades duradouras em atividades que dependem dessas habilidades, incluindo o desempenho no trabalho ou nas tarefas do dia a dia.
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language
Nucleus
Speech-language disorder 1
A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes.
Variantes genéticas (ClinVar)
295 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 42 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
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 — Déficit de aprendizagem específico
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
10 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Resolving the mystery of Chinese developmental dyslexia: in search of predictors and early markers.
Developmental dyslexia is a specific learning disability for which early identification and intervention are crucial. In alphabetic languages, phonological awareness and letter naming are well-established early markers of reading disorders. For developmental dyslexia in Chinese, a language that differs from alphabetic languages in multiple aspects, little is known about its early markers. Here, we report findings from a 2.5-year longitudinal behavioral study and a functional neuroimaging study designed to identify the neural underpinnings of predictors of Chinese reading disability. In Experiment 1, 237 Chinese children were assessed at age 5 on phonological awareness, morphological awareness, phonological memory (measured by digit span) and rapid automatized naming (RAN). Their reading performance was measured two and a half years later using a nationally standardized Chinese reading assessment. Forty children were identified as dyslexic and fifty-six as typical readers. For the two groups of children, we found that phonological memory and RAN were unique and reliable predictors of reading disorders, explaining significant variance after controlling for other factors. The analyses with all 237 participants showed the same pattern. In Experiment 2, we conducted a brain-wide association study in skilled readers to examine whether these two predictors were associated with activation in reading-related regions. We found that phonological memory and RAN were strongly associated with regions supporting Chinese reading. This research has demonstrated that phonological memory and RAN are early cognitive markers of Chinese dyslexia and, for the first time, has tried to pave the way for effective early intervention strategies for Chinese reading difficulties.
Parental awareness, diagnostic processes, and support needs regarding mathematical learning difficulties.
This study examines the awareness levels, diagnostic experiences, and support needs of parents of children diagnosed with Specific Learning Disability (SLD) displaying Mathematical Learning Difficulties (MLDs) through the lens of Ecological Systems Theory (EST). Adopting a phenomenological design, the study involved seventeen parents selected via maximum variation sampling to represent diverse socioeconomic backgrounds in Van, Türkiye. Data were collected through semi-structured interviews and analyzed using content analysis. The findings indicate that the early signs of MLD are typically recognized by teachers during the early primary years (chronosystem). Teacher guidance within the microsystem proves decisive in facilitating parental acceptance and initiating the multi-staged diagnostic process involving Guidance and Research Centers (GRC) and medical evaluations. While school-based individualized interventions are perceived as beneficial, the study reveals critical disconnects within the mesosystem (e.g., weak coordination between school, family, and rehabilitation services) and significant barriers arising from the exosystem (e.g., financial constraints, limited access to specialized support). Although parents attempt to mitigate these gaps through home-based support strategies using concrete and digital tools, their efforts are often constrained by low pedagogical literacy and societal stigma (macrosystem). The study emphasizes the necessity of institutionalizing school-based interdisciplinary support teams, integrating practical MLD modules into teacher education, and fostering equitable access to instructional resources to bridge the gap between policy and practice. The online version contains supplementary material available at 10.1186/s40359-026-04025-3.
Obesity prevalence in two national cohorts of children with disabilities: Patterns over time and by disability subgroups.
Obesity in the United States disproportionately affects children with disabilities, yet little is known about how their obesity rates change over time or differ across disability subgroups. This study examined changes in obesity rates in two nationally representative cohorts of children from kindergarten to grade five. Obesity rates were further disaggregated for four less examined disability subgroups: speech or language impairment (SLI), specific learning disability (SLD), intellectual disability (ID), and autism spectrum disorder (ASD). Data from the Early Childhood Longitudinal Study-Kindergarten (ECLS-K: 1999 and ECLS-K: 2011) on two cohorts of children (approximately N = 9800 and N = 8500) were analyzed using logistic regression. In both cohorts, obesity among children with disabilities increased from kindergarten (16-18 %) to grade five (26-31 %), at which point their rates were nearly 4-7 percentage points higher than children without disabilities. Obesity rates and grade-level trends were similar by disability subgroups in both cohorts. Our results underscore the importance of tracking dietary, behavioral, and physical activity changes in children with disabilities that may increase or mitigate their risks of obesity. Targeted obesity prevention efforts should also extend to children in the less severe SLI and SLD categories.
Invisible Twice: India's Unjust and Inadequate Policy Response to Students with Specific Learning Disabilities and Borderline Intellectual Functioning.
Prevalence Estimates of Neurodevelopmental Disorders (NDD) in a South Indian Population.
Neurodevelopmental disorders (NDDs) represent a significant public health concern globally, yet comprehensive prevalence data in India, a nation with 1.4 billion inhabitants, remains scarce. Limited systematic investigations have hindered effective public health planning. This study aims to evaluate the prevalence of NDDs within a local Panchayath population in Kottayam, Kerala, employing a community-based methodology. A two-phase cross-sectional study was conducted. Phase I involved a door-to-door survey to screen for NDDs, targeting the entire Panchayath population. In Phase II, individuals screened as at-risk underwent detailed clinical assessments. The collected data were analysed to determine the overall and specific prevalence of various NDDs. The overall prevalence of NDDs in the surveyed population (n = 26,465) after Phase II was 0.80% (1 in 125), with a significantly higher prevalence of 1.38% (1 in 72) in children under 12 years. The prevalence rates of specific disorders included epilepsy (0.38%, 0.50% in children), specific learning disability (0.10%, 0.29% in children), attention deficit hyperactivity disorder (0.05%, 0.32% in children), developmental language disorder (0.026%, 0.029% in children), and autism spectrum disorder (ASD) (0.02%, 0.06% in children). A key strength of the study was its inclusion of the entire Panchayath population in Phase I, filling a significant gap in the literature on NDD prevalence at the community level in India. As one of the first community-level estimates, it underscores the need for targeted public health strategies, particularly for children. The findings offer crucial data to guide policymakers and public health officials in planning interventions to reduce the burden of NDDs in the region.
Publicações recentes
Streamlining care coordination for students with specific learning disabilities: Identifying barriers and effective solutions.
Vocabulary Instruction for Children With Language Learning Disorders: Effects on Word Learning and Comprehension.
Increased Agmatine Degradation in Children with Specific Learning Disorder.
The experience and understanding of learning disability and autism of orthodontic practitioners in the United Kingdom: A national survey.
Base rates of low achievement scores in young adults: implications for specific learning disability assessment.
📚 EuropePMC72 artigos no totalmostrando 135
Invisible Twice: India's Unjust and Inadequate Policy Response to Students with Specific Learning Disabilities and Borderline Intellectual Functioning.
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CureusNot Just in the Mind: A Case of Neurological Decline in a Young Adult With Psychiatric History.
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Annals of dyslexiaSLD Models and Assessment Data Sources: Effects on Identification and Confidence.
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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.
- Resolving the mystery of Chinese developmental dyslexia: in search of predictors and early markers.
- Parental awareness, diagnostic processes, and support needs regarding mathematical learning difficulties.
- Obesity prevalence in two national cohorts of children with disabilities: Patterns over time and by disability subgroups.
- Invisible Twice: India's Unjust and Inadequate Policy Response to Students with Specific Learning Disabilities and Borderline Intellectual Functioning.
- Prevalence Estimates of Neurodevelopmental Disorders (NDD) in a South Indian Population.
- Streamlining care coordination for students with specific learning disabilities: Identifying barriers and effective solutions.
- Vocabulary Instruction for Children With Language Learning Disorders: Effects on Word Learning and Comprehension.
- Increased Agmatine Degradation in Children with Specific Learning Disorder.
- The experience and understanding of learning disability and autism of orthodontic practitioners in the United Kingdom: A national survey.
- Base rates of low achievement scores in young adults: implications for specific learning disability assessment.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:211047(Orphanet)
- MONDO:0016225(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2400784(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.
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