Raras
Buscar doenças, sintomas, genes...
Dificuldade específica de linguagem
ORPHA:211053DOENÇA RARA

Síndrome de Tourette ou transtorno de Tourette é um transtorno do neurodesenvolvimento comum que se manifesta na infância ou na adolescência, caracteriza-se por múltiplos tiques motores e por pelo menos um tique vocal (fônico), tiques que incluem o ato de piscar, tossir, limpar a garganta, assoar o nariz e movimentos faciais, sendo que esses tiques são tipicamente precedidos por um impulso ou sensação indesejada nos músculos afetados, denominada urgência premonitória, podem ser suprimidos temporariamente e, de maneira característica, variam em localização, intensidade e frequência. A síndrome de Tourette situa-se na extremidade mais severa de um transtorno do espectro de transtorno de tiques, e esses tiques frequentemente passam despercebidos por observadores casuais.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Dificuldade específica de linguagem é um distúrbio neurológico que afeta a aquisição e o uso da linguagem. Pode manifestar-se como problemas de fala, gramática, coordenação motora e alimentação, frequentemente associado a alterações no gene FOXP2.

Pesquisas ativas
5 ensaios
20 total registrados no ClinicalTrials.gov
Publicações científicas
36 artigos
Último publicado: 2025 Mar 30
Medicamentos
4 registrados
DEXAMETHASONE, METHYLPREDNISOLONE, METHYLPHENIDATE HYDROCHLORIDE

Tem tratamento?

4 medicamentos registrados
Ver detalhes, fases e interações →
DEXAMETHASONEMETHYLPREDNISOLONEMETHYLPHENIDATE HYDROCHLORIDEMETHYLPHENIDATE
🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

Partes do corpo afetadas

🧠
Neurológico
3 sintomas
😀
Face
2 sintomas
📏
Crescimento
1 sintomas
👁️
Olhos
1 sintomas
👂
Ouvidos
1 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

Disartria
Prosódia da fala anormal
Anormalidade da fala ou vocalização
Transtorno de fala específico da gramática
Dificuldades alimentares
Apraxia oromotora
26sintomas
Sem dados (26)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.

DisartriaDysarthria
Prosódia da fala anormalAbnormal speech prosody
Anormalidade da fala ou vocalizaçãoAbnormality of speech or vocalization
Transtorno de fala específico da gramáticaGrammar-specific speech disorder
Dificuldades alimentaresFeeding difficulties

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico36PubMed
Últimos 10 anos89publicações
Pico202025 papers
Linha do tempo
2025Hoje · 2026🧪 1993Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

FOXP2Forkhead box protein P2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Positive Regulation of CDH1 Gene Transcription
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cólon sigmoide
14.7 TPM
Esôfago - Junção
7.0 TPM
Esôfago - Muscular
6.7 TPM
Útero
6.3 TPM
Cervix Ectocervix
4.5 TPM
OUTRAS DOENÇAS (2)
childhood apraxia of speech7q31 microdeletion syndrome
HGNC:13875UniProt:O15409

Medicamentos e terapias

DEXAMETHASONEPhase 3

Mecanismo: Glucocorticoid receptor agonist

METHYLPREDNISOLONEPhase 3

Mecanismo: Glucocorticoid receptor agonist

METHYLPHENIDATE HYDROCHLORIDEPhase 2

Mecanismo: Norepinephrine transporter inhibitor

METHYLPHENIDATEPhase 2

Mecanismo: Norepinephrine transporter inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

295 variantes patogênicas registradas no ClinVar.

🧬 FOXP2: NM_014491.4(FOXP2):c.2004-2A>G ()
🧬 FOXP2: NM_014491.4(FOXP2):c.1903dup (p.Ser635fs) ()
🧬 FOXP2: NM_014491.4(FOXP2):c.733C>T (p.Pro245Ser) ()
🧬 FOXP2: NM_014491.4(FOXP2):c.737del (p.Pro246fs) ()
🧬 FOXP2: NM_014491.4(FOXP2):c.258+36249A>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
2Fase 22
·Pré-clínico17
Medicamentos catalogadosEnsaios clínicos· 4 medicamentos · 18 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Dificuldade específica de linguagem

🗺️

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

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

20 ensaios clínicos encontrados, 5 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
12 papers (10 anos)
#1

Beta Spectral Power during Passive Listening in Preschool Children with Specific Language Impairment.

Developmental neuroscience2025

Children with specific language impairment (SLI) have difficulties in different speech and language domains. Electrophysiological studies have documented that auditory processing in children with SLI is atypical and probably caused by delayed and abnormal auditory maturation. During the resting state, or different auditory tasks, children with SLI show low or high beta spectral power, which could be a clinical correlate for investigating brain rhythms. The aim of this study was to examine the electrophysiological cortical activity of the beta rhythm while listening to words and nonwords in children with SLI in comparison to typical development (TD) children. The participants were 50 children with SLI, aged 4 and 5 years, and 50 age matched TD children. The children were divided into two subgroups according to age: (1) children 4 years of age; (2) children 5 years of age. The older group differed from the younger group in beta auditory processing, with increased values of beta spectral power in the right frontal, temporal, and parietal regions. In addition, children with SLI have higher beta spectral power than TD children in the bilateral temporal regions. Complex beta auditory activation in TD and SLI children indicates the presence of early changes in functional brain connectivity. Children with specific language impairment (SLI) have difficulties in different speech and language domains. Electrophysiological studies have documented that auditory processing in children with SLI is atypical and probably caused by delayed and abnormal auditory maturation. During the resting state, or different auditory tasks, children with SLI show low or high beta spectral power, which could be a clinical correlate for investigating brain rhythms. The aim of this study was to examine the electrophysiological cortical activity of the beta rhythm while listening to words and nonwords in children with SLI in comparison to typical development (TD) children. The participants were 50 children with SLI, aged 4 and 5 years, and 50 age matched TD children. The children were divided into two subgroups according to age: (1) children 4 years of age; (2) children 5 years of age. The older group differed from the younger group in beta auditory processing, with increased values of beta spectral power in the right frontal, temporal, and parietal regions. In addition, children with SLI have higher beta spectral power than TD children in the bilateral temporal regions. Complex beta auditory activation in TD and SLI children indicates the presence of early changes in functional brain connectivity.

#2

Grammaticality of Tag Questions as a Longitudinal Morphosyntactic Marker of Children With Specific Language Impairment Compared to Peers Ages 5-18 Years.

Journal of speech, language, and hearing research : JSLHR2025 Jul 08

Previous studies documenting longitudinal linguistic outcomes of children with specific language impairment (SLI) compared to their age peers focus on the property of obligatory finiteness marking in sentences across the age span of 5-18 years. This study evaluates tag questions as syntactically complex sentences that extend the demands of finiteness marking across clauses, requiring coordination of negation in the base sentence and tag question. Five hundred eleven children (240 unaffected, 271 SLI affected), between 5 and 18 years of age participated, following a rolling recruitment longitudinal design, which included a total of 4,718 observations. The linguistic task was designed to evaluate four variations of tag questions, two of which targeted polarity requirements for tags and two of which were nonpolarity differences in the tag. Growth modeling methods were used to test hypotheses of group differences (SLI vs. unaffected) in understanding of tag questions over 5-18 years. Covariates were child nonverbal IQ, mother's education, and child sex. Children with SLI's outcomes varied by age and item type. They performed below unaffected children across all tag outcomes at 10 years, scored correctly on nonpolarity items at 18 years (ceiling levels), and continued to lag unaffected children at 18 years on polarity items. Significant SLI effects on the outcomes were not moderated by the covariates. By 18 years, the SLI group performed the nonpolarity items correctly but continued to struggle with polarity items. Thus, polarity is of interest as a possible screener for SLI throughout the school years.

#3

Assuring Primary Healthcare Services to Vulnerable Children in a Disadvantaged Suburb of Rome Metropolitan City During the Pandemic: Responses to the Crisis.

Children (Basel, Switzerland)2025 Mar 30

Background/Objective: This retrospective observational study describes the social, health, and psychological conditions of children living in a disadvantaged and degraded suburb of Rome Metropolitan City during the COVID-19 pandemic as registered by the primary healthcare service of the Solidarity Medicine Institute, with the aim of fighting social exclusion and health disparities during lockdown and offering free health care to vulnerable families. Methods: The access to pediatric interventions was assessed from April 2020 to December 2022. For each child, biometric parameters were recorded, and the physical and psychological states of health were assessed. Furthermore, data regarding family socio-economic variables were collected. Results: From April 2020 to December 2022, 638 children, aged 0 to 18 years, had access to the healthcare system, which was provided by the Solidarity Medicine Institute, with a total of 2300 pediatric visits. Moreover, food supplements, drugs, and hygiene kits that were necessary for the containment of the COVID-19 infection were freely distributed at the center. The highest proportion of children included in this study were from African and Eastern European families (46% and 35.8%, respectively), and 41% of these children did not have a pediatrician from the public health service. Children aged 0 to 5 years comprised 50.81% of the entire population of this study. Nutritional status assessment indicated that among the 117 infants aged 0-12 months, 5.7% were below the 3rd weight percentile, while 28.9% exceeded the 85th weight percentile. BMI assessment for children aged 2 years and older (i.e., 521 children) indicated that 21.7% of these children were overweight, and 9.5% were obese. Sixty-nine cases of psychiatric disorders were also detected among these children, with a high frequency of cases of Specific Language Disorder (31.8%), Attention Deficit Hyperactivity Disorder (21.7%), and Specific Learning Disorder (14.5%). Psychiatric and rehabilitative interventions were also offered. Conclusions: The Solidarity Medicine Institute responded to the request of the municipality of Rome to remain open and offer social and health assistance to the most vulnerable people during the pandemic. The Solidarity Medicine Institute has efficaciously served a fragile pediatric population, intercepting social, health, and psychological needs and overcoming social exclusion, health disparity, and the fragmentation of welfare services exacerbated by the COVID-19 pandemic.

#4

Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.

Schizophrenia bulletin2025 Nov 10

It is known that impairments in linguistic ability and motor function tend to co-occur in children, and that children from families with parental mental illness such as schizophrenia tend to perform poorly in both domains, but the exact nature of these links has not yet been fully elucidated. In this study, we leveraged the first wave of the Danish High Risk and Resilience Study (VIA 7), which includes both genetic data and measures covering multiple developmental domains. The VIA 7 cohort comprises 522 7-year-old children born to parents with schizophrenia (N = 202), bipolar disorder (N = 120) or neither (N = 200). We investigated the relationships between linguistic ability and motor function using correlation and regression analyses, focusing on developmental coordination disorder (DCD) and specific language impairment (SLI) and their potential associations with the three risk groups. We found significant correlations between most measures of language and motor function and significant associations of DCD and SLI with language and movement measures, respectively, the largest effect being that of DCD on receptive language, with a significant interaction effect: DCD was associated with poorer performance in children from schizophrenia families compared to bipolar disorder and control families. Both disorders showed higher prevalence among children with familial high risk of mental illness. We did not find significant evidence of genetic overlap between DCD and SLI. Our results suggest strong links between the domains of motor function and linguistic ability. Children of parents with schizophrenia are at high risk of comorbid language and movement disorders.

#5

FLP: Factor lattice pattern-based automated detection of Parkinson's disease and specific language impairment using recorded speech.

Computers in biology and medicine2024 May

Timely detection of neurodevelopmental and neurological conditions is crucial for early intervention. Specific Language Impairment (SLI) in children and Parkinson's disease (PD) manifests in speech disturbances that may be exploited for diagnostic screening using recorded speech signals. We were motivated to develop an accurate yet computationally lightweight model for speech-based detection of SLI and PD, employing novel feature engineering techniques to mimic the adaptable dynamic weight assignment network capability of deep learning architectures. In this research, we have introduced an advanced feature engineering model incorporating a novel feature extraction function, the Factor Lattice Pattern (FLP), which is a quantum-inspired method and uses a superposition-like mechanism, making it dynamic in nature. The FLP encompasses eight distinct patterns, from which the most appropriate pattern was discerned based on the data structure. Through the implementation of the FLP, we automatically extracted signal-specific textural features. Additionally, we developed a new feature engineering model to assess the efficacy of the FLP. This model is self-organizing, producing nine potential results and subsequently choosing the optimal one. Our speech classification framework consists of (1) feature extraction using the proposed FLP and a statistical feature extractor; (2) feature selection employing iterative neighborhood component analysis and an intersection-based feature selector; (3) classification via support vector machine and k-nearest neighbors; and (4) outcome determination using combinational majority voting to select the most favorable results. To validate the classification capabilities of our proposed feature engineering model, designed to automatically detect PD and SLI, we employed three speech datasets of PD and SLI patients. Our presented FLP-centric model achieved classification accuracy of more than 95% and 99.79% for all PD and SLI datasets, respectively. Our results indicate that the proposed model is an accurate alternative to deep learning models in classifying neurological conditions using speech signals.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC4 artigos no totalmostrando 89

2025

Grammaticality of Tag Questions as a Longitudinal Morphosyntactic Marker of Children With Specific Language Impairment Compared to Peers Ages 5-18 Years.

Journal of speech, language, and hearing research : JSLHR
2025

Assuring Primary Healthcare Services to Vulnerable Children in a Disadvantaged Suburb of Rome Metropolitan City During the Pandemic: Responses to the Crisis.

Children (Basel, Switzerland)
2025

Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.

Schizophrenia bulletin
2025

Beta Spectral Power during Passive Listening in Preschool Children with Specific Language Impairment.

Developmental neuroscience
2024

FLP: Factor lattice pattern-based automated detection of Parkinson's disease and specific language impairment using recorded speech.

Computers in biology and medicine
2024

[Studies on the association of genes with language disorders in the post-genomic era].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Phonological awareness training and phonological therapy approaches for specific language impairment children with speech sound disorders: a comparative outcome study.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2023

Resting-state EEG alpha rhythm spectral power in children with specific language impairment: a cross-sectional study.

Journal of applied biomedicine
2023

Longitudinal Grammaticality Judgments of Tense Marking in Complex Questions in Children With and Without Specific Language Impairment, Ages 5-18 Years.

Journal of speech, language, and hearing research : JSLHR
2024

Special Education Representation Trends Vary by Language Status: Evidence of Underrepresentation in Tennessee.

Journal of learning disabilities
2023

The comprehension of relative clauses in Mandarin Children with suspected specific language impairment.

Journal of child language
2022

Electroen cephalography correlates of word and non-word listening in children with specific language impairment: An observational study [corrected].

Medicine
2024

[The profile of reading and cognitive skills of children with a history of specific developmental language disorder].

Psychiatrike = Psychiatriki
2022

Adversity Exposure, Syntax, and Specific Language Impairment: An Exploratory Study.

Journal of speech, language, and hearing research : JSLHR
2022

Neural patterns elicited by lexical processing in adolescents with specific language impairment: support for the procedural deficit hypothesis?

Journal of neurodevelopmental disorders
2022

Teacher Educational Decision Making for Children With Specific Language Impairment.

American journal of speech-language pathology
2022

Characterizing macro- and micro-structures of narrative skills for Mandarin-speaking school-age children with specific language impairment.

Journal of communication disorders
2022

Work Setting Effects on Speech-Language Pathology Practice: Implications for Identification of Children With Specific Language Impairment.

American journal of speech-language pathology
2022

Theory of Mind Development in Italian Children with Specific Language Impairment and Autism Spectrum Disorder: Delay, Deficit, or Neither?

Journal of autism and developmental disorders
2021

Language Intervention Isn't Just Spoken: Assessment and Treatment of a Deaf Signing Child With Specific Language Impairment.

Language, speech, and hearing services in schools
2021

Morpho-Syntactic Deficit in Children with Cochlear Implant: Consequence of Hearing Loss or Concomitant Impairment to the Language System?

International journal of environmental research and public health
2021

Familial confounding affected the associations between maternal smoking during pregnancy and offspring speech and language, scholastic and coordination disorders.

Acta paediatrica (Oslo, Norway : 1992)
2021

[Behavioral disorders in children with specific language impairment].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2021

Relative Clause Sentence Comprehension by Japanese-Speaking Children With and Without Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2021

CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis.

Human cell
2021

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.

Human molecular genetics
2021

A Multimodal Comparison of Emotion Categorization Abilities in Children With Developmental Language Disorder.

Journal of speech, language, and hearing research : JSLHR
2021

Number Dissimilarity Effects in Object-Initial Sentence Comprehension by German-Speaking Children With Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2021

[Long-term course after inpatient speech therapy: educational and language development of children with severe specific language impairment (SLI)].

HNO
2022

The role of age and timing in bilingual assessment: non-word repetition, subject-verb agreement and case marking in L1 and eL2 children with and without SLI.

Clinical linguistics & phonetics
2021

Marking of Tense and Agreement in Language Samples by Children With and Without Specific Language Impairment in African American English and Southern White English: Evaluation of Scoring Approaches and Cut Scores Across Structures.

Journal of speech, language, and hearing research : JSLHR
2021

Play in Children with Neurodevelopmental Disorders: Psychometric Properties of a Parent Report Measure 'My Child's Play'.

Children (Basel, Switzerland)
2021

Relative Clause Sentence Processing in Korean-Speaking School-Aged Children With and Without Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2020

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Cold Spring Harbor molecular case studies
2020

Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2020

A genetic window to auditory-verbal problems in bipolar disorder.

Psychiatric genetics
2020

Similarities and differences in psycho-educational assessments of adolescents with specific language impairments and specific learning disabilities: A challenging differential diagnosis.

Psychiatrike = Psychiatriki
2020

Promoting Reading Achievement in Children With Developmental Language Disorders: What Can We Learn From Research on Specific Language Impairment and Dyslexia?

Journal of speech, language, and hearing research : JSLHR
2020

Exploring Sentence Diversity at the Boundary of Typical and Impaired Language Abilities.

Journal of speech, language, and hearing research : JSLHR
2020

Advances in Specific Language Impairment Research and Intervention: An Overview of Five Research Symposium Papers.

Journal of speech, language, and hearing research : JSLHR
2020

Retrieval Practice and Word Learning in Children With Specific Language Impairment and Their Typically Developing Peers.

Journal of speech, language, and hearing research : JSLHR
2020

Causal Pathways for Specific Language Impairment: Lessons From Studies of Twins.

Journal of speech, language, and hearing research : JSLHR
2020

An investigation into the relationship between Quality of pantomime gestures and visuospatial skills.

Augmentative and alternative communication (Baltimore, Md. : 1985)
2020

Screening and analysis of specific language impairment in young children by analyzing the textures of speech signal.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2020

Contextual influences on sentence repetition as a tool for the identification of language impairment in Grade 3 Sepedi-English bilinguals: A case against bilingual norms.

The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings
2020

Do Children Classified With Specific Language Impairment Have a Learning Disability in Writing? A Meta-Analysis.

Journal of learning disabilities
2020

Individualized Narrative Intervention for School-Age Children With Specific Language Impairment.

Language, speech, and hearing services in schools
2021

Spontaneous productions of infinitive clauses by English-speaking children with and without specific language impairment.

Clinical linguistics & phonetics
2020

Heritability of Specific Language Impairment and Nonspecific Language Impairment at Ages 4 and 6 Years Across Phenotypes of Speech, Language, and Nonverbal Cognition.

Journal of speech, language, and hearing research : JSLHR
2020

Morphosyntactic weaknesses in Developmental Language Disorder: the role of structure and agreement configurations.

Journal of child language
2020

Number processing skill trajectories in children with specific language impairment.

Psicothema
2020

Reduced deficits observed in children and adolescents with developmental language disorder using proper nonverbalizable span tasks.

Research in developmental disabilities
2019

Language impairment in primary progressive aphasia and other neurodegenerative diseases.

Journal of genetics
2019

Toward Understanding the Lexical-Morphological Networks of Children With Specific Language Impairment: Analysis of Responses on a Morphological Production Task.

Journal of speech, language, and hearing research : JSLHR
2019

A comparative study of language phenotypes in Autism Spectrum Disorder and Specific Language Impairment.

Psicothema
2020

Comprehension of presupposition triggers in Cantonese-speaking children with and without autism spectrum disorders.

Clinical linguistics & phonetics
2020

Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk.

Autism research : official journal of the International Society for Autism Research
2019

Deficits in Explicit Language Problem Solving Rather Than in Implicit Learning in Specific Language Impairment: Evidence From Learning an Artificial Morphological Rule.

Journal of speech, language, and hearing research : JSLHR
2019

Specific Language Impairment in African American English and Southern White English: Measures of Tense and Agreement With Dialect-Informed Probes and Strategic Scoring.

Journal of speech, language, and hearing research : JSLHR
2020

Narrative abilities of Mandarin-speaking children with and without specific language impairment: macrostructure and microstructure.

Clinical linguistics & phonetics
2020

Dismantling the "Visual Ease Assumption:" A Review of Visual Narrative Processing in Clinical Populations.

Topics in cognitive science
2019

The Relationship Between Language and Planning in Children With Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2020

De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.

Neurologia
2019

When morphological ability exceeds syntactic ability: A case study.

Clinical linguistics & phonetics
2020

Exploring gender as a potential source of bias in adult judgments of children with specific language impairment and attention-deficit/hyperactivity disorder.

Journal of communication disorders
2019

Linguistic Contributions to Word-Level Spelling Accuracy in Elementary School Children With and Without Specific Language Impairment.

American journal of speech-language pathology
2019

A View of the Lexical-Grammatical Link in Young Latinos With Specific Language Impairment Using Language-Specific and Conceptual Measures.

Journal of speech, language, and hearing research : JSLHR
2020

Similarities and differences in the lexical-grammatical relation of young dual language learners with and without specific language impairment.

Clinical linguistics & phonetics
2019

Nonword Repetition Across Two Dialects of English: Effects of Specific Language Impairment and Nonmainstream Form Density.

Journal of speech, language, and hearing research : JSLHR
2019

The use of evaluative expressions in the narratives of adolescents with a history of SLI.

Clinical linguistics & phonetics
2019

Word Retrieval Difficulties and Cognitive Control in Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2019

A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).

European journal of human genetics : EJHG
2019

Contribution of reading an e-book with a dictionary to word learning: Comparison between kindergarteners with and without SLI.

Journal of communication disorders
2019

Speech-Language Pathologists' Clinical Decision Making for Children With Specific Language Impairment.

Language, speech, and hearing services in schools
2019

Referential Cohesion in the Narratives of Bilingual and Monolingual Children With Typically Developing Language and With Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2019

The Impact of Manipulating Attentional Shifting Demands on Preschool Children With Specific Language Impairment.

Journal of speech, language, and hearing research : JSLHR
2019

Subject-Aux Inversion in Children with SLI.

Journal of psycholinguistic research
2019

The production of wh-questions in Italian-speaking children with SLI.

Clinical linguistics & phonetics
2019

A multi-group approach to examining language development in at-risk learners.

Journal of child language
2019

Case marking in German-speaking children with specific language impairment and with phonological impairment.

Clinical linguistics & phonetics
2019

Morphophonology and compensation in Specific Language Impairment: Evidence from Standard Modern Greek and Cypriot Greek.

Clinical linguistics & phonetics
2018

Let's Be Explicit About the Psycholinguistic Bases of Developmental Measures: A Response to Leonard, Haebig, Deevy, and Brown (2017).

Journal of speech, language, and hearing research : JSLHR
2018

Extending the Application of Tense and Agreement Measures: A Reply to Rispoli and Hadley (2018).

Journal of speech, language, and hearing research : JSLHR
2019

Specific Language Impairment and Reading Disability: Categorical Distinction or Continuum?

Journal of learning disabilities
2016

Corrigendum: The Application of Timing in Therapy of Children and Adults with Language Disorders.

Frontiers in psychology
2016

Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.

Journal of child and adolescent psychopharmacology
2015

The Application of Timing in Therapy of Children and Adults with Language Disorders.

Frontiers in psychology
2015

Structural alterations of the language connectome in children with specific language impairment.

Brain and language
2016

Motor impairment in children with Neurofibromatosis type 1: Effect of the comorbidity with language disorders.

Brain & development

Associações

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

Ainda não existe comunidade no Raras para Dificuldade específica de linguagem

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Beta Spectral Power during Passive Listening in Preschool Children with Specific Language Impairment.
    Developmental neuroscience· 2025· PMID 38723615mais citado
  2. Grammaticality of Tag Questions as a Longitudinal Morphosyntactic Marker of Children With Specific Language Impairment Compared to Peers Ages 5-18 Years.
    Journal of speech, language, and hearing research : JSLHR· 2025· PMID 40460410mais citado
  3. Assuring Primary Healthcare Services to Vulnerable Children in a Disadvantaged Suburb of Rome Metropolitan City During the Pandemic: Responses to the Crisis.
    Children (Basel, Switzerland)· 2025· PMID 40310045mais citado
  4. Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.
    Schizophrenia bulletin· 2025· PMID 39468758mais citado
  5. FLP: Factor lattice pattern-based automated detection of Parkinson's disease and specific language impairment using recorded speech.
    Computers in biology and medicine· 2024· PMID 38547655mais citado
  6. [Studies on the association of genes with language disorders in the post-genomic era].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi· 2024· PMID 38448032recente
  7. [The profile of reading and cognitive skills of children with a history of specific developmental language disorder].
    Psychiatriki· 2024· PMID 36041402recente
  8. Morpho-Syntactic Deficit in Children with Cochlear Implant: Consequence of Hearing Loss or Concomitant Impairment to the Language System?
    Int J Environ Res Public Health· 2021· PMID 34574401recente
  9. Familial confounding affected the associations between maternal smoking during pregnancy and offspring speech and language, scholastic and coordination disorders.
    Acta Paediatr· 2021· PMID 34363238recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:211053(Orphanet)
  2. MONDO:0016226(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Q775593(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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ORPHA:211053 · MONDO:0016226
Ensaios
5 ativos
Medicamentos
4 registrados
MedGen
UMLS
C0973461
EuropePMC
Wikidata
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