Raras
Buscar doenças, sintomas, genes...
Apraxia do discurso isolada na adolescência
ORPHA:209908CID-10 · F80.0OMIM 602081DOENÇA RARA

O transtorno de ansiedade social (TAS), também conhecido como fobia social, é um transtorno de ansiedade caracterizado pelo medo persistente e excessivo de ser criticado e julgado em situações sociais ou de desempenho. Neste transtorno, os indivíduos acreditam que estão sob constante escrutínio pelas outras pessoas. Diante de tais situações os indivíduos tendem a apresentar sintomas típicos de ansiedade como palpitações, tremores, sudorese, tensão muscular, boca seca, náusea, diarreia ou dor de cabeça o que leva o indivíduo a evitar situações onde tais possibilidades possam surgir.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença neurológica rara caracterizada pela diminuição da capacidade para executar movimentos complexos e coordenados subjacentes à produção da fala, levando a uma fala altamente ininteligível na ausência de défices musculares ou sensoriais.

Medicamentos
2 registrados
METHYLPHENIDATE HYDROCHLORIDE, METHYLPHENIDATE

Tem tratamento?

2 medicamentos registrados
Ver detalhes, fases e interações →
METHYLPHENIDATE HYDROCHLORIDEMETHYLPHENIDATE

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
22
pacientes catalogados
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: F80.0
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

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

+ 20 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade da fala ou vocalização
Muito frequente (99-80%)
90%prev.
Atraso no desenvolvimento da fala e da linguagem
Muito frequente (99-80%)
55%prev.
Atraso na linguagem receptiva
Frequente (79-30%)
55%prev.
Prosódia da fala anormal
Frequente (79-30%)
55%prev.
Apraxia da fala
Frequente (79-30%)
55%prev.
Transtorno de fala específico da gramática
Frequente (79-30%)
27sintomas
Muito frequente (2)
Frequente (10)
Ocasional (6)
Muito raro (5)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da fala ou vocalizaçãoAbnormality of speech or vocalization
Muito frequente (99-80%)90%
Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Muito frequente (99-80%)90%
Atraso na linguagem receptivaReceptive language delay
Frequente (79-30%)55%
Prosódia da fala anormalAbnormal speech prosody
Frequente (79-30%)55%
Apraxia da falaSpeech apraxia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Últimos 10 anos200publicações
Pico202487 papers
Linha do tempo
2023Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2024Ano 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. Padrão de herança: Autosomal dominant.

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

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.
2Fase 22
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 2 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Apraxia do discurso isolada na adolescência

🗺️

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

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Selective contralesional constructional hemi-apraxia after unilateral brain damage: Which relationship with unilateral spatial neglect?

Journal of neuropsychology2026 Mar

We describe a peculiar contralesional drawing disorder in three patients affected by focal brain lesions, who did not show signs of unilateral neglect at standard clinical assessment, including the star cancellation test. This picture, that could be termed selective constructional hemi-apraxia (CHA), could follow both right and left-hemisphere lesions and is observed in complex constructional tasks. Future studies are warranted to explore the clinical and functional implications of CHA and its boundaries with unilateral neglect and constructional apraxia.

#2

Assessment of acquired apraxia of speech: pilot study with the CBO protocol.

Arquivos de neuro-psiquiatria2026 Feb

Acquired apraxia of speech is often a comorbidity that accompanies aphasia. In some cases, it may be difficult to distinguish whether speech errors are phonological (resulting from aphasia) or phonetic (resulting from apraxia of speech).To verify the capacity of the Costa, Brescancini, and Ortiz (CBO) protocol to identify acquired apraxia of speech in persons with aphasia (PWA) among Brazilian Portuguese speakers.This is a cross-sectional and prospective study that included the participation of 7 PWA and suspected apraxia of speech (PWAG) poststroke and 25 neurotypical individuals who formed the control group (CG). All participants were followed the tasks of the CBO protocol, such as spontaneous conversation, description of a thematic card, word repetition, and diadochokinesias (DKK).The protocol differentiated the groups in the spontaneous speech tasks (percentage of errors per word); word repetition list (time, punctuation, quantity, and type of manifestations); and DKK /ka/ and /pataka/. The results showed that the PWAG presented less fluent, slower speech, with more errors than the CG. Additionally, the protocol mapped the nature of the errors.The protocol enabled the identification of acquired apraxia of speech in PWA. It was also possible to analyze the tasks and linguistic variables that most interfered with the motor production of speech in Brazilian PWA.

#3

Caregivers' Experiences of Assessment and Treatment for Their Child With Childhood Apraxia of Speech: An International Questionnaire Study.

American journal of speech-language pathology2026 Mar 10

The aim of this study was to understand caregivers' preferences and experiences with diagnosis and treatment of childhood apraxia of speech (CAS). Caregivers of children with CAS completed a 70-item online survey that explored demographics, initial concerns, the CAS diagnostic process, speech therapy goals, and preferred and received speech therapy service delivery (session frequency, length, and context). Quantitative data were analyzed descriptively and with inferential statistics; qualitative data were analyzed using content analysis. One hundred sixty-one caregivers participated, mostly from the United States, Australia, and Canada. A total of 72% of caregivers had concerns about their child's speech by the time the child was 18 months old. Although most children had seen two or three speech-language pathologists (SLPs) by the time they were diagnosed with CAS, 23% had seen four or more SLPs. Caregivers expressed a preference for their children to receive individual, in-person sessions of 31-45 min three or more times per week, but they most commonly received individual, in-person, weekly sessions of 30 min or less. Analysis of the caregivers' open-text responses led to the construction of five themes: "roadblocks to service"; "pursuit of comprehensive and reliable information"; "SLPs: trial, error, and then trust"; "CAS-specific care"; and "family support beyond the session." Results of this study highlight the need for education and communication. The challenges families experience in accessing timely and sufficient CAS-specific care indicate that greater training is needed for SLPs, pediatricians, and other health professionals to ensure that caregivers' concerns about children's speech are addressed, their desire to understand their child's diagnosis and treatment are met, and their children receive evidence-based treatment. https://doi.org/10.23641/asha.31383226.

#4

Interventions for childhood apraxia of speech.

The Cochrane database of systematic reviews2026 Feb 10

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To examine the effectiveness of speech and language interventions for children and adolescents with Childhood Apraxia of Speech (CAS) as delivered by speech and language pathologists/therapists or by other personnel under the direction of a speech and language pathologist/therapist.

#5

Diagnosing Apraxia of Speech in Children and Adults When There Is No Gold Standard: A Scoping Review About the Diagnostic Process.

American journal of speech-language pathology2026 Mar 10

Childhood apraxia of speech (CAS), stroke-induced apraxia of speech (AOS), and progressive apraxia of speech (PAOS) cannot be diagnosed with an error-free gold standard test or measure. Reference standards are sensible approximations but are vulnerable to bias. In this scoping review, we characterize the diagnostic process for reference standards that have been used in recent diagnostic literature and evaluate the extent to which bias-reducing strategies have been implemented. We extracted data about the diagnostic process for studies of speech characteristics in CAS, AOS, and PAOS that were published between 2014 and 2024. Observational studies published in peer-reviewed journals and in English were included, whereas treatment studies, surveys, case studies, and reviews were excluded. Of 198 included studies, the most common diagnostic method was consensus or confirmation by two to three diagnosticians (38.4%), followed by checklist verification (25.3%), and simple clinical impression (19.2%). Testing or measurement techniques were used less frequently for diagnostic purposes (9.6%). The diagnostic process varied by etiology, and strategies to reduce bias were minimally implemented across the board. There is a need to accept that current diagnostic reference standards are inherently imperfect and to reduce risk of bias by using converging evidence, defining syndrome features operationally, standardizing consensus formation, and estimating reliability of classification. A focus shift to how speech profiles, tests, and measures relate directly to prognosis and treatment response may expedite scientific discovery, as may strategy-sharing among those who work with children, adult stroke survivors, and adults with progressive disease. https://doi.org/10.23641/asha.31173799.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Selective contralesional constructional hemi-apraxia after unilateral brain damage: Which relationship with unilateral spatial neglect?

Journal of neuropsychology
2026

Assessment of acquired apraxia of speech: pilot study with the CBO protocol.

Arquivos de neuro-psiquiatria
2026

Caregivers' Experiences of Assessment and Treatment for Their Child With Childhood Apraxia of Speech: An International Questionnaire Study.

American journal of speech-language pathology
2026

Interventions for childhood apraxia of speech.

The Cochrane database of systematic reviews
2026

Diagnosing Apraxia of Speech in Children and Adults When There Is No Gold Standard: A Scoping Review About the Diagnostic Process.

American journal of speech-language pathology
2026

Underreported Demographic Factors in Apraxia of Speech Treatment Studies: Recommendations for Inclusive Research.

Journal of speech, language, and hearing research : JSLHR
2026

Reliability of Lexical Stress Transcription in Childhood Apraxia of Speech.

American journal of speech-language pathology
2026

Comparing Word Elicitation Strategies for Individuals With Apraxia of Speech and Aphasia.

International journal of language &amp; communication disorders
2026

From Stroke to Silence: Akinetic Mutism in a Teenager With Bithalamic Infarction: Role of the Cerebello-Rubro-Thalamo-Cortical Pathway.

Stroke
2026

Ethnographic Perspectives of Unreliable, Minimal and Non-Speaking Autism Associated With Apraxia.

OTJR : occupation, participation and health
2026

Clinicians' Perspectives on Diagnosing and Treating Childhood Apraxia of Speech in Children Under 3 Years Old.

American journal of speech-language pathology
2025

An Imaging-Guided Neural Model Explains Lexical Stress Alteration in Acquired Apraxia of Speech.

Human brain mapping
2025

Posterior alien hand syndrome in a patient with parieto-occipital infarction: a presentation mimicking anterior variant features-a case report.

Journal of medical case reports
2025

Hemispheric disconnection as a basis for neurodegeneration in apraxia and Alzheimer's disease.

Discover mental health
2025

[A patient with left parietal lobe infarction presenting with bilateral limb-kinetic apraxia, bilateral agraphaesthesia, and bilateral astereognosis].

Rinsho shinkeigaku = Clinical neurology
2025

Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.

Neurology India
2025

Exploring perception of coarticulatory cues in childhood apraxia of speech and residual speech sound disorders: A pilot study.

Journal of communication disorders
2025

The Cleveland Family Speech and Reading Study: A Review of Long-Term Outcomes Linking Phenotypes and Genotypes for Speech Sound Disorders.

Journal of speech, language, and hearing research : JSLHR
2026

Apraxic deficits in Alzheimer's disease are associated with altered dynamic connectivity in praxis-related networks.

Neurobiology of aging
2025

"I Just Want Him to Be Understood": Parent Perspectives of the Long-Term Desired Outcomes and Experiences of Early Intervention for Children With Childhood Apraxia of Speech.

American journal of speech-language pathology
2025

Apraxia as a Predictor of Poststroke Recovery: Insights From the Birmingham Cognitive Screening Program.

Stroke
2025

Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own.

Orphanet journal of rare diseases
2025

Ataxia with oculomotor apraxia type 2: two pedigree studies and a comprehensive review.

Journal of neurology
2025

Apraxic deficits predict general cognitive impairment in patients with biomarker-verified Alzheimer's pathology.

Journal of neurology
2025

Clinicopathological and Neuroimaging Correlates of Disease Duration in Primary Progressive Apraxia of Speech.

European journal of neurology
2026

Assessing Limb Apraxia in Quebec: Normative Study of the Brief Battery for the Evaluation of Praxis in Healthy French-Speaking Adults.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
2025

Gerstmann's Syndrome and Limb Apraxia: A Single Case Study.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
2025

Alien Hand: Current Research Trends.

Current neurology and neuroscience reports
2025

Therapy for Childhood Apraxia of Speech Through a Dynamic Systems Lens: A Tutorial.

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

Competition between Tool and Hand Motion Impairs Movement Planning in Limb Apraxia.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

A Framework for Measuring Treatment Fidelity in Motor-Based Speech Intervention for Children With Childhood Apraxia of Speech.

American journal of speech-language pathology
2025

Maximizing Generalization of Combined Treatment for Mild Aphasia and Apraxia: Evidence From Three Case Studies.

American journal of speech-language pathology
2026

A Comprehensive Exploration of Motor, Sensory, and Physiological Factors in a Case of Limb Kinetic Apraxia Following Traumatic Brain Injury.

Internal medicine (Tokyo, Japan)
2025

Beyond the cortex: Cerebellar contributions to apraxia of speech in stroke survivors.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Differences in gait apraxia due to reduced regional cerebral blood flow in the supplementary motor area in corticobasal syndrome: a report of two cases.

BMC neurology
2025

Cause of death for patients who present with primary progressive apraxia of speech.

Parkinsonism &amp; related disorders
2025

A Pathway to Research-Reliable Dynamic Temporal and Tactile Cueing for Children With Childhood Apraxia of Speech: A Multiphase Process for Training Community Clinicians.

American journal of speech-language pathology
2025

Acoustic Measures of Word-Level Prosody in Childhood Apraxia of Speech: An Initial Validation Study.

American journal of speech-language pathology
2025

Delayed progressive apraxia of speech: A novel clinical entity distinct from primary progressive aphasia - A descriptive case series.

Journal of the neurological sciences
2025

Bálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.

Clinical neuropharmacology
2025

Distinct 11C-ER176 PET Neuroinflammatory Profiles and Tau Colocalization in Progressive Apraxia of Speech With and Without Parkinson-plus Syndrome.

Clinical nuclear medicine
2025

Validity and Reliability of the Turkish Version of the Dynamic Evaluation of Motor Speech Skill (DEMSS-TR) Test for Children With Speech Sound Disorders.

International journal of language &amp; communication disorders
2025

Pick's disease presenting as progressive apraxia of speech: Atypical clinical and neuroimaging features in three autopsy-confirmed cases.

Clinical neurology and neurosurgery
2025

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Cerebellum (London, England)
2025

Differential Diagnostic Patterns of Acquired Motor Speech Disorders in Children: A Preliminary Investigation of Four Case Studies.

American journal of speech-language pathology
2025

Upper Limb Apraxia Is Related to Role Participation Among Patients With Mild to Moderate Stroke.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association
2025

Training on Childhood Apraxia of Speech: Experiences of Speech-Language Pathologists.

American journal of speech-language pathology
2025

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Molecular medicine (Cambridge, Mass.)
2025

Differential Lesion Patterns Associated With Stroke-Induced Apraxia in Women and Men.

European journal of neurology
2025

Refined Operational Definitions for the Apraxia of Speech Rating Scale.

American journal of speech-language pathology
2025

[Rehabilitation of alien hand syndrome].

Ugeskrift for laeger
2025

[Research progress of treating Alzheimer's disease with traditional Chinese medicine].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Phonemic simplification in apraxia of speech and aphasia with phonemic paraphasia.

Clinical linguistics &amp; phonetics
2025

Apraxia of eyelid opening and the variable motor phenomenology of blepharospasm.

Parkinsonism &amp; related disorders
2025

Late Detection of Corpus Callosum Infarction in a 55-Year-Old: Insights from Alien Hand Syndrome.

The American journal of case reports
2025

A Novel Candidate Neuromarker of Central Motor Dysfunction in Childhood Apraxia of Speech.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

Cognitive neuropsychological and neuroanatomic predictors of naturalistic action performance in left hemisphere stroke: A retrospective analysis.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report.

Clinical neurology and neurosurgery
2025

White matter tract involvement in anarchic hand syndrome following stroke: Diffusion tensor imaging study.

Behavioural brain research
2025

Testing Feasibility of a Self-Administered Hearing Test for Patients With Progressive Apraxia of Speech and Aphasia.

American journal of audiology
2025

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.

Molecular autism
2025

Clinician and Caregiver Perspectives on a Community-Based Dynamic Temporal and Tactile Cueing Treatment Trial for Childhood Apraxia of Speech: Exploring Perceptions of Research and Routine Clinical Practice.

American journal of speech-language pathology
2025

aFTLD-U presenting with primary progressive aphasia suggestive of non-fluent type with apraxia of speech.

Neurocase
2025

Word Count Matters: Features of Written Language Production in Progressive Apraxia of Speech with and without Agrammatism.

Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)
2025

Phonological and speech motor abilities in children with childhood apraxia of speech.

Clinical linguistics &amp; phonetics
2025

Oral applause sign in progressive supranuclear palsy.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Reliability and Optimal Cut-Off Points of the Test for Upper Limb Apraxia (TULIA) for Spanish-Speaking Post-Stroke Patients.

Clinical rehabilitation
2025

The Benefits of Robustness in Measures of Spatiotemporal Stability: An Investigation in Childhood Apraxia of Speech.

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

Cortical Tau Aggregation Patterns Associated With Apraxia in Patients With Alzheimer Disease.

Neurology
2024

A case of amusia with beat deafness and apraxia of speech.

Neurocase
2025

Anarchy in the brain: Behavioural and neuroanatomical core of the anarchic hand syndrome.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

Apraxia: From Neuroanatomical Pathways to Clinical Manifestations.

Current neurology and neuroscience reports
2024

Progression of Motor Speech Function in Speakers With Primary Progressive Apraxia of Speech.

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

Diagnostic Features of Childhood Apraxia of Speech: A Survey Study of Estonian, Finnish, and Lithuanian Speech-Language Pathologists.

American journal of speech-language pathology
2024

Apraxia phenotypes and frontotemporal lobar degeneration.

Journal of neurology
2024

Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.

Communications biology
2024

Exploring vowel errors produced in nonword repetition in children with speech and language disorders.

International journal of language &amp; communication disorders
2024

Effectiveness of the Kaufman Speech to Language Protocol for Children With Childhood Apraxia of Speech and Comorbidities When Delivered in a Dyadic and Group Format.

American journal of speech-language pathology
2024

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Cerebellum (London, England)
2025

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

Speech Intelligibility Outcomes Associated With Treatment for Acquired Apraxia of Speech: Magnitude of Change and Stability of Measurement.

American journal of speech-language pathology
2024

Automatic Speech Recognition in Primary Progressive Apraxia of Speech.

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

Acoustic Analysis of Spatiotemporal Variability in Children With Childhood Apraxia of Speech.

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

Considerations for identifying subtypes of speech sound disorder.

International journal of language &amp; communication disorders
2025

Presentation, surgical outcome, and supplementary motor area syndrome risk of posterior superior frontal gyrus tumors.

Journal of neurosurgery
2024

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Pediatric neurology
2024

Research Priorities for Childhood Apraxia of Speech: A Long View.

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

Caregiver and child perspectives of wellbeing in school-age children with childhood apraxia of speech.

International journal of speech-language pathology
2024

Cerebrolysin Concentrate: Therapeutic Potential for Severe Oral Apraxia After Stroke: A Case Report.

Brain &amp; NeuroRehabilitation
2024

Incidence of Primary Progressive Apraxia of Speech and Primary Progressive Aphasia in Olmsted County, MN, 2011-2022.

Neurology
2024

Clinicopathologic and Neuroimaging Correlations of Nonverbal Oral Apraxia in Patients With Neurodegenerative Disease.

Neurology
2025

Frontalis muscle flap eyelid reanimation technique in adults with severe ptosis or apraxia of eyelid opening.

Orbit (Amsterdam, Netherlands)
2024

Progressive verbal apraxia of reading.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

A preliminary study of white matter disconnections underlying deficits in praxis in left hemisphere stroke patients.

Brain structure &amp; function
2024

A systematic scoping review of the literacy skills of children with childhood apraxia of speech: Recommendations for best practice and further research.

International journal of speech-language pathology
2024

A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.

Biochimica et biophysica acta. Molecular basis of disease
2024

Alien hand syndrome: An atypical presentation of acute left parietal stroke in a community emergency department.

The American journal of emergency medicine
2024

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.

Movement disorders clinical practice
2024

Symptomatic Unilateral Carotid Artery Disease: An Uncommon but Reversible Cause of Corticobasal Syndrome.

The neurologist
2024

The yes-no reversal phenomenon in patients with primary progressive apraxia of speech.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

Multimodal cross-examination of progressive apraxia of speech by diffusion tensor imaging-based tractography and Tau-PET scans.

Human brain mapping
2024

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.

Movement disorders clinical practice
2026

Recovery of gestures for persons with severe non-fluent aphasia and limb apraxia: A long-term follow-up study.

Applied neuropsychology. Adult
2024

Treatment for Childhood Apraxia of Speech: Past, Present, and Future.

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

The neural correlates of limb apraxia: An anatomical likelihood estimation meta-analysis of lesion-symptom mapping studies in brain-damaged patients.

Neuroscience and biobehavioral reviews
2024

A Goal-Writing Framework for Motor-Based Intervention for Childhood Apraxia of Speech.

American journal of speech-language pathology
2024

Differential spectral characteristics of the Spanish fricative /s/ in the articulation of individuals with dysarthria and apraxia of speech.

Journal of communication disorders
2023

Case Report: Callosal disconnection syndrome manifesting as mixed frontal-callosal-posterior alien hand syndrome following extensive corpus callosum infarct.

F1000Research
2025

The encoding of speech modes in motor speech disorders: whispered versus normal speech in apraxia of speech and hypokinetic dysarthria.

Clinical linguistics &amp; phonetics
2024

Acoustic Analyses of Tone Productions in Sequencing Contexts Among Cantonese-Speaking Preschool Children With and Without Childhood Apraxia of Speech.

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

The Effects of Yoga Breathing Before Motor Speech Practice in Acquired Apraxia of Speech: An n-of-1 Trial.

International journal of yoga therapy
2024

Localizing apraxia in corticobasal syndrome: a morphometric MRI study.

Cerebral cortex (New York, N.Y. : 1991)
2024

Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.

Journal of neurology
2024

Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.

Parkinsonism &amp; related disorders
2024

Apraxia Patterns for the Differentiation between Alzheimer's Disease and Frontotemporal Dementia Variants.

Medicina (Kaunas, Lithuania)
2024

Stability Over Time of Word Syllable Duration for Speakers With Acquired Apraxia of Speech.

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

Dynamic Temporal and Tactile Cueing in Young Children With Childhood Apraxia of Speech: A Multiple Single-Case Design.

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

Alien hand syndrome-like functional seizures in a patient with right temporo-parietal damage and neurocognitive disorder: a case report.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

The Neurocognitive Bases of Meaningful Intransitive Gestures: A Systematic Review and Meta-analysis of Neuropsychological Studies.

Neuropsychology review
2024

Characterizing Speech Errors Across Primary Progressive Apraxia of Speech Subtypes.

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

Characteristics of Lexical Stress in Hebrew-Speaking Children With Childhood Apraxia of Speech.

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

Combined assessment of progressive apraxia of speech brain microstructure by diffusion tensor imaging tractography and multishell neurite orientation dispersion and density imaging.

Brain and behavior
2024

Genetic architecture of childhood speech disorder: a review.

Molecular psychiatry
2024

[Early indicators of childhood apraxia of speech in late talkers: general guidelines to intervention].

Medicina
2024

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

European journal of medical genetics
2025

Visuospatial memory in apraxia: Exploring quantitative drawing metrics to assess the representation of local and global information.

Memory &amp; cognition
2024

Navigation abilities and spatial anxiety in individuals with and without Developmental Coordination Disorder (DCD/Dyspraxia).

Research in developmental disabilities
2024

Longitudinal flortaucipir, metabolism and volume differ between phonetic and prosodic speech apraxia.

Brain : a journal of neurology
2024

Atypical Cogan's syndrome: A case report.

Journal francais d'ophtalmologie
2024

What works, how and in which contexts when supporting parents to implement intensive speech and language therapy at home for children with speech sound disorder? A protocol for a realist review.

BMJ open
2024

The impact for DCD - USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of America.

Research in developmental disabilities
2024

Predicting Disability in Progressive Supranuclear Palsy Using Bedside Frontal-Lobe Signs.

Movement disorders clinical practice
2024

Childhood Apraxia of Speech: Exploring Gluten Sensitivity and Changes in Glutamate and Gamma-Aminobutyric Acid Plasma Levels.

Pediatric neurology
2024

Laparoscopic Eradication of Deep Endometriosis With Segmental Rectosigmoid Resection and Bilateral Posterior Parametrectomy With Nerve-sparing "Touchless" Technique According to the "Negrar Method".

Journal of minimally invasive gynecology
2023

Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET.

BMC geriatrics
2024

Diffusion tensor imaging-based multi-fiber tracking reconstructions can regionally differentiate phonetic versus prosodic subtypes of progressive apraxia of speech.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

Pitch Variation Skills in Cantonese Speakers With Apraxia of Speech After Stroke: Preliminary Findings of Acoustic Analyses.

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

The Role of Dual-Phase 18 F-FP-CIT PET to Early Diagnosis of Corticobasal Syndrome.

Clinical nuclear medicine
2023

Amyloid and Tau PET Positivity in Progressive Agrammatic Aphasia and Apraxia of Speech.

Journal of Alzheimer's disease : JAD
2024

Transcranial Alternating Current Stimulation in a Patient with Ataxia-Ocular Apraxia 2: a Case Report.

Cerebellum (London, England)
2024

[Behçet's and Cogan's syndromes - The Variable Vessel Vasculitides].

Laryngo- rhino- otologie
2024

Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum.

Brain : a journal of neurology
2024

Preliminary Speech Perception Performance Profiles of School-Age Children With Childhood Apraxia of Speech, Speech Sound Disorder, and Typical Development.

Journal of speech, language, and hearing research : JSLHR
2023

Phonological Assessment Instrument: evidence of construct validity.

CoDAS
2023

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

Genes
2024

An online survey of clinical practice and confidence in diagnosing acquired apraxia of speech in Cantonese speakers.

International journal of speech-language pathology
2024

A single case experimental design study using an operationalised version of the Kaufman Speech to Language Protocol for children with childhood apraxia of speech.

International journal of speech-language pathology
2023

Assessment protocol for acquired apraxia of speech.

CoDAS
2024

The Effectiveness of Transcranial Magnetic Stimulation in Treating Apraxia.

CNS &amp; neurological disorders drug targets
2024

C9orf72 Repeat Expansion Initially Presenting as Late-Onset Bipolar Disorder With Psychosis.

The neurologist
2024

Assessing limb apraxia after ischemic stroke: validation of the Chinese version of the diagnostic instrument for limb apraxia-short version (DILA-S) classic subtests.

Topics in stroke rehabilitation
2023

Extended frontalis orbicularis oculi muscle flap shortening for treating refractory apraxia of eyelid opening associated with blepharospasm.

Journal of the Chinese Medical Association : JCMA
2024

Behavioral Treatment for Speech and Language in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech: A Systematic Review.

Neuropsychology review
2023

Cogan syndrome: a case report and review of the literature.

Digital journal of ophthalmology : DJO
2024

Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum.

Brain : a journal of neurology
2024

Alternating unilateral blepharospasm with apraxia of eyelid opening in a patient with progressive supranuclear palsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

Long-Term Outcomes for Individuals With Childhood Apraxia of Speech.

Journal of speech, language, and hearing research : JSLHR
2023

Development of Self-made Gestures as an Adaptive Strategy for Communication in an Individual With Childhood Apraxia of Speech.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
2024

An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech.

Journal of speech, language, and hearing research : JSLHR
2023

Word Repetition Paired With Startling Stimuli Decreases Aphasia and Apraxia Severity in Severe-to-Moderate Stroke: A Stratified, Single-Blind, Randomized, Phase 1 Clinical Trial.

American journal of speech-language pathology
2024

Clinical and MRI characterization of apraxic syndrome in corticobasal degeneration: A single-case study.

The Clinical neuropsychologist
2023

Manual Rhythmic Sequencing Skills in Children With Childhood Apraxia of Speech.

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

Predictors of Functional Communication Outcomes in Children With Idiopathic Motor Speech Disorders.

Journal of speech, language, and hearing research : JSLHR
2023

A Comparison of Sound Production Treatment and Metrical Pacing Therapy for Apraxia of Speech: A Single-Case Experimental Design.

American journal of speech-language pathology
2024

Knowing "what for," but not "where": Dissociation between functional and contextual tool knowledge in healthy individuals and patients with dementia.

Journal of the International Neuropsychological Society : JINS
2024

The Reliability of Expert Diagnosis of Childhood Apraxia of Speech.

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

Speech and Music Therapy in the Treatment of Childhood Apraxia of Speech: An Introduction and a Case Study.

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

A Randomized Controlled Trial of Treatment Distribution and Biofeedback Effects on Speech Production in School-Age Children With Apraxia of Speech.

Journal of speech, language, and hearing research : JSLHR
2023

Longitudinal characterization of patients with progressive apraxia of speech without clearly predominant phonetic or prosodic speech features.

Brain and language
2024

Temporal acoustic properties of the sibilant fricative /s/ for the differential diagnosis of dysarthria and apraxia of speech in Spanish speakers.

Clinical linguistics &amp; phonetics
2023

Mechanisms and neuroanatomy of response selection in tool and non-tool action tasks: Evidence from left-hemisphere stroke.

Cortex; a journal devoted to the study of the nervous system and behavior
2023

Normative Values for Word Syllable Duration With Interpretation in a Large Sample of Stroke Survivors With Aphasia.

American journal of speech-language pathology
2023

Acoustic Analysis and Neuroimaging Correlates of Diadochokinetic Rates in Mild-Moderate Primary Progressive Apraxia of Speech.

Brain and language
2023

Parietal control of hand movement.

Handbook of clinical neurology
2023

Cogan Syndrome: A Case Study and Review of the Literature.

Ear, nose, &amp; throat journal
2023

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.

Neuropediatrics
2023

Is Shadowing Behavior Caused by Body Representation Disorders and Apraxia?

Journal of Alzheimer's disease : JAD
2023

The Impact of Telehealth on the Efficacy of Sound Production Treatment.

American journal of speech-language pathology
2023

Sudomotor deficits in Parkinson's disease with special reference to motor subtypes.

Parkinsonism &amp; related disorders
2024

Weekly Treatment for Childhood Apraxia of Speech With Rapid Syllable Transition Treatment: A Single-Case Experimental Design Study.

Journal of speech, language, and hearing research : JSLHR
2023

Alien hand syndrome, a rare presentation of corpus callosum and cingulate infarction.

Journal of the neurological sciences
2023

[Clinical examination of spatial neglect and other disorders of spatial cognition].

Der Nervenarzt
2023

Neural Changes in Children With Residual Speech Sound Disorder After Ultrasound Biofeedback Speech Therapy.

Journal of speech, language, and hearing research : JSLHR
2023

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

Ophthalmic genetics
2023

Higher-level gait disorder as a presenting manifestation of progressive supranuclear palsy: a video case report.

Revista de neurologia
2024

Naive Listener Ratings of Speech Intelligibility Over the Course of Motor-Based Intervention in Children With Childhood Apraxia of Speech.

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

How to cut the pie is no piece of cake: Toward a process-oriented approach to assessment and diagnosis of speech sound disorders.

International journal of language &amp; communication disorders
2023

Speech reception after cochlear implantation for Cogan's syndrome: Case series following CARE guidelines.

European annals of otorhinolaryngology, head and neck diseases
2023

Association of Circumscribed Subcortical Gray and White Matter Lesions With Apraxic Deficits in Patients With Left Hemisphere Stroke.

Neurology
2024

Update on Identification and Treatment of Infants and Toddlers With Suspected Childhood Apraxia of Speech.

Journal of speech, language, and hearing research : JSLHR
2023

Translation into Brazilian Portuguese and transcultural adaptation of the Apraxia of Speech Rating Scale 3.5.

CoDAS
2024

Diagnosing inconsistent phonological disorder: quantitative and qualitative measures.

Clinical linguistics &amp; phonetics
2024

Dynamic Temporal and Tactile Cueing: Quantifying Speech Motor Changes and Individual Factors That Contribute to Treatment Gains in Childhood Apraxia of Speech.

Journal of speech, language, and hearing research : JSLHR
2023

The Outcomes of Remote Administration of Combined Aphasia and Apraxia of Speech Treatment: A Single-Subject Experimental Design Study.

American journal of speech-language pathology
2024

Influences of motor speech impairments on the presentation of dysphagia in progressive supranuclear palsy.

International journal of speech-language pathology
2023

Target temperature in post-arrest comatous patients. Is something changed in the postpandemic era?

The American journal of emergency medicine
2023

Paediatric Cogan´s syndrome - review of literature, case report and practical approach to diagnosis and management.

Pediatric rheumatology online journal
2023

Cogan syndrome following SARS-COV-2 infection.

Clinical rheumatology
2023

An Update on Apraxia of Speech.

Current neurology and neuroscience reports

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 Apraxia do discurso isolada na adolescência

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Selective contralesional constructional hemi-apraxia after unilateral brain damage: Which relationship with unilateral spatial neglect?
    Journal of neuropsychology· 2026· PMID 41808607mais citado
  2. Assessment of acquired apraxia of speech: pilot study with the CBO protocol.
    Arquivos de neuro-psiquiatria· 2026· PMID 41759501mais citado
  3. Caregivers' Experiences of Assessment and Treatment for Their Child With Childhood Apraxia of Speech: An International Questionnaire Study.
    American journal of speech-language pathology· 2026· PMID 41746165mais citado
  4. Interventions for childhood apraxia of speech.
    The Cochrane database of systematic reviews· 2026· PMID 41665066mais citado
  5. Diagnosing Apraxia of Speech in Children and Adults When There Is No Gold Standard: A Scoping Review About the Diagnostic Process.
    American journal of speech-language pathology· 2026· PMID 41642097mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:209908(Orphanet)
  2. OMIM OMIM:602081(OMIM)
  3. MONDO:0011184(MONDO)
  4. GARD:12889(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1561430(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

Apraxia do discurso isolada na adolescência
Compêndio · Raras BR

Apraxia do discurso isolada na adolescência

ORPHA:209908 · MONDO:0011184
Prevalência
<1 / 1 000 000
Casos
22 casos conhecidos
Herança
Autosomal dominant
CID-10
F80.0 · Transtorno específico da articulação da fala
Medicamentos
2 registrados
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0750927
Wikidata
Wikipedia
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