{"orpha":209908,"name":"Isolated childhood apraxia of speech","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated CAS","Isolated developmental verbal dyspraxia","Pure CAS","Pure childhood apraxia of speech","Speech and language disorder with orofacial dyspraxia","Speech-language disorder type 1"],"definition":"A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209908/","orphanet_url":"https://www.orpha.net/en/disease/detail/209908","names":{"fr":{"name":"Dyspraxie verbale de développement isolée","synonyms":["Dyspraxie verbale de développement pure","Trouble de la parole et du langage avec dyspraxie orofaciale","Trouble du langage oral de type 1"],"definition":"Maladie neurologique rare caractérisée par une altération de la capacité à exécuter des mouvements coordonnés complexes qui sous-tendent la production de la parole, laquelle, malgré l'absence de déficits musculaires ou sensoriels, devient inintelligible."},"de":{"name":"Isolierte Sprechapraxie im Kindesalter","synonyms":["Isolierte CAS","Isolierte verbale Entwicklungsdyspraxie","Rein kindliche Sprechapraxie","Reine CAS","Sprech- und Sprachstörungen Typ 1","Sprech- und Sprachstörungen mit orofazialer Dyspraxie"],"definition":"Eine seltene neurologische Erkrankung, die durch eine Beeinträchtigung der Fähigkeit zur Ausführung komplexer, koordinierter Bewegungen gekennzeichnet ist, die der Sprachproduktion zugrunde liegen, was bei fehlenden muskulären oder sensorischen Defiziten zu einer sehr unverständlichen Sprache führt."},"es":{"name":"Apraxia del habla infantil aislada","synonyms":["Apraxia del habla infantil pura","Dispraxia verbal del desarrollo aislada","Trastorno del habla y del lenguaje con dispraxia orofacial","Trastorno del habla y del lenguaje tipo 1"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una capacidad limitada para ejecutar movimientos complejos coordinados que subyacen al proceso de producción del habla, lo que resulta en un habla altamente ininteligible en ausencia de déficits musculares o sensitivos."},"it":{"name":"Aprassia verbale infantile","synonyms":["Aprassia verbale infantile pura","CAS isolata","CAS pura","Disprassia verbale isolata dello sviluppo","Disturbo del linguaggio con disprassia orofacciale","Disturbo del linguaggio tipo 1"],"definition":"Si tratta di una malattia neurologica rara, caratterizzata dalla compromissione della capacità di compiere i movimenti coordinati complessi alla base della produzione del linguaggio, che esita in un linguaggio incomprensibile, in assenza di deficit muscolari o sensoriali. Il sintomo d'esordio può essere un grave ritardo del linguaggio espressivo. Successivamente, i segni caratteristici comprendono gli errori incoerenti sulle consonanti e sulle vocali nella produzione ripetuta di sillabe o parole, l'allungamento e le alterazioni delle transizioni coarticolatorie tra i suoni e le sillabe, e una prosodia inadeguata."},"nl":{"name":"Geïsoleerde spraakapraxie op kinderleeftijd","synonyms":["Geïsoleerde CAS","Geïsoleerde ontwikkelingsgerelateerde verbale dyspraxie","Spraak- en taalstoornis met orofaciale dyspraxie","Spraak-taalstoornis type 1","Zuivere CAS","Zuivere spraakapraxie op kinderleeftijd"],"definition":"Een zeldzame neurologische aandoening, gekenmerkt door verstoord vermogen om complexe gecoördineerde bewegingen uit te voeren die aan de basis liggen van spraakproductie, wat leidt tot zeer onverstaanbare articulatie in afwezigheid van musculaire of sensorische defecten."},"pt":{"name":"Apraxia do discurso isolada na adolescência","synonyms":["CAS isolada","CAS pura","Dispraxia do desenvolvimento verbal isolada"],"definition":"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."},"pl":{"name":"Izolowana dziecięca apraksja mowy","synonyms":["CAS","Rozwojowa dyspraksja werbalna","Zaburzenie mowy i języka z dyspraksją ustno-twarzową","Zaburzenie mowy-języka typu 1"]},"cs":{"name":"Izolovaná dětská řečová apraxie","synonyms":["CAS","Vývojová verbální dyspraxie","Poruchy řeči a jazyka s orofaciální dyspraxií","Poruchy řeči a jazyka, typ 1"]},"uk":{"name":"Ізольована дитяча апраксія мовлення","synonyms":["Ізольований CAS","Ізольована мовленнєва диспраксія у звязку з розвитком","Чистий CAS","Чиста дитяча апраксія мовлення","Розлади мови та мовлення з орофаціальною дипраксією","Розлад мовлення 1 типу"],"definition":"A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits."},"zh":{"name":"儿童言语失用症","synonyms":["言语语言障碍伴口面部运动障碍"],"definition":"儿童言语语言障碍是一种罕见的神经系统疾病，其主要临床表现为边说话边做复杂的协调性动作的能力受损，导致没有动作或感觉障碍情况下说出难以理解的言语。最初表现为重度语言表达延迟。之后表现为重复表达音节或词时，辅音和元音发音均错误，声音与音节之间的共同发音转换延长或中断，没有节律。"},"tr":{"name":"Çocukluk çağı konuşma apraksisi","synonyms":["CAS","Gelişimsel sözel dispraksi","Konuşma-dil bozukluğu tip 1","Orofasiyal dispraksi ile seyreden konuşma ve dil bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"602081","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F80.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0750927","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":211053,"name":"Specific language disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"FOXP2","name":"forkhead box P2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11586359[PMID]_15877281[PMID]","hgnc":"13875","ensembl":"ENSG00000128573","omim":"605317","loci":["7q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-30","source":"27336128[PMID]_15877281[PMID]_9770548[PMID]_2332125[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031434","label":"Abnormal speech prosody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006977","label":"Grammar-specific speech disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010863","label":"Receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007015","label":"Poor gross motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very rare (<4-1%)","criteria":null}]}}