{"Name":"Childhood apraxia of speech","DiseaseID__c":"GARD:0012889","id":12889,"encodedName":"childhood-apraxia-of-speech","IsDeleted":false,"Disease_Name_Full__c":"Childhood apraxia of speech","Xref_IDs__c":"229703009; C0750927; DOID:0111275; MEDGEN:152917; MONDO:0011184; OMIM:602081; ORPHA:209908","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0012889","Disease_Description__c":"Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls. Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech. In many cases, the underlying cause of Childhood apraxia of speech is unknown (idiopathic). Some cases are associated with a known neurological cause (such as intrauterine or early childhood stroke, infection, trauma, brain cancer or tumor resection, traumatic brain injury, etc.), and other cases occur as part of a complex neurobehavioral disorder (such as autism, epilepsy, fragile X syndrome, galactosemia, Rett syndrome, Prader-Willi syndrome or certain types of chromosome abnormalities). In some cases, genetic changes in the FOXP2 gene or loss of genetic material involving this gene may cause Childhood apraxia of speech.","GARD_Name__c":"Childhood apraxia of speech","GARD_Synonym__c":"cas; developmental verbal dyspraxia; isolated cas; isolated cas (childhood apraxia of speech); isolated childhood apraxia of speech; isolated developmental verbal dyspraxia; pure cas; pure cas (childhood apraxia of speech); pure childhood apraxia of speech; spch1; speech and language disorder with orofacial dyspraxia; speech language disorder; speech-language disorder type 1","Curated_Disease_Description_Source__c":"GARD:0012889","Curated_Disease_Description__c":"FOXP2-related speech and language disorder affects the development of speech and language beginning in early childhood. Affected individuals have a condition known as childhood apraxia of speech (CAS), which makes it difficult to produce the sequences of sounds and syllables needed to form words. CAS is caused by abnormalities in the parts of the brain that plan and coordinate the movements of the lips, mouth, and tongue. Children with FOXP2-related speech and language disorder say their first words later than other children, typically between 18 months and 7 years of age. Their speech is often difficult to understand, although the clarity of speech usually improves over time.   In addition to having problems with producing speech (expressive language), people with FOXP2-related speech and language disorder may have difficulty understanding speech (receptive language). Some affected individuals also have trouble with other language-related skills, such as reading, spelling, and grammar.  Less commonly, individuals with FOXP2-related speech and language disorder have features of autism spectrum disorder, which is a condition characterized by impaired social skills and communication problems. Some affected individuals have difficulty with motor skills such as walking, writing, or buttoning clothes, but these typically improve with treatment. Some affected individuals may have learning difficulties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:209908","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011184","ORPHANET_ID__c":"ORPHA:209908","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Apraxia del habla infantil aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"apraxia del habla infantil aislada","Spanish_GARD_Synonym__c":"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","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"FOXP2-related speech and language disorder affects the development of speech and language beginning in early childhood. Affected individuals have a condition known as childhood apraxia of speech (CAS), which makes it difficult to produce the sequences of sounds and syllables needed to form words. CAS is caused by abnormalities in the parts of the brain that plan and coordinate the movements of the lips, mouth, and tongue. Children with FOXP2-related speech and language disorder say their first words later than other children, typically between 18 months and 7 years of age. Their speech is often difficult to understand, although the clarity of speech usually improves over time.   In addition to having problems with producing speech (expressive language), people with FOXP2-related speech and language disorder may have difficulty understanding speech (receptive language). Some affected individuals also have trouble with other language-related skills, such as reading, spelling, and grammar.  Less commonly, individuals with FOXP2-related speech and language disorder have features of autism spectrum disorder, which is a condition characterized by impaired social skills and communication problems. Some affected individuals have difficulty with motor skills such as walking, writing, or buttoning clothes, but these typically improve with treatment. Some affected individuals may have learning difficulties.","Curated_Disease_Description_Source__c":"GARD:0012889","GARD_Synonym__c":"cas; developmental verbal dyspraxia; isolated cas; isolated cas (childhood apraxia of speech); isolated childhood apraxia of speech; isolated developmental verbal dyspraxia; pure cas; pure cas (childhood apraxia of speech); pure childhood apraxia of speech; spch1; speech and language disorder with orofacial dyspraxia; speech language disorder; speech-language disorder type 1","Name":"Childhood apraxia of speech","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Apraxia Kids","Website__c":"https://www.apraxia-kids.org/"},{"Account_Name__c":"Childhood Apraxia Treatment","Website__c":"https://www.childapraxiatreatment.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:209908"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012889","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK368474","Source__c":"Gene Review","Xref__c":"NBK368474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=229703009","Source__c":"MONDO:0011184","Xref__c":"229703009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111275","Source__c":"MONDO:0011184","Xref__c":"DOID:0111275"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0750927","Source__c":"C0750927","Xref__c":"C0750927"},{"URL__c":"https://www.orpha.net/en/disease/detail/209908","Source__c":"C0750927; MONDO:0011184; ORPHA:209908","Xref__c":"ORPHA:209908"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=152917","Source__c":"C0750927","Xref__c":"MEDGEN:152917"},{"URL__c":"https://www.omim.org/entry/602081","Source__c":"C0750927; MONDO:0011184; ORPHA:209908","Xref__c":"OMIM:602081"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011184","Source__c":"GARD:0012889","Xref__c":"MONDO:0011184"},{"URL__c":"https://medlineplus.gov/genetics/condition/foxp2-related-speech-and-language-disorder","Source__c":"GARD:0012889","Xref__c":"https://medlineplus.gov/genetics/condition/foxp2-related-speech-and-language-disorder"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1365977003","Source__c":"C0750927","Xref__c":"1365977003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficit in grammar, including syntax and morphology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006977","HPO_Synonym__c":"Grammar-specific speech disorder","HPO_Name__c":"Deficit in grammar","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A failure to meet one or more age-related milestones of social behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012434","HPO_Synonym__c":"Delayed milestone development; Delayed social development","HPO_Name__c":"Delayed early-childhood social milestone development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002546","HPO_Synonym__c":"Incomprehensible speech","HPO_Name__c":"Incomprehensible speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002340","HPO_Synonym__c":"Caudate degeneration","HPO_Name__c":"Caudate atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An eyebrow that extends straight across the brow, without curve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011228","HPO_Synonym__c":"Flat eyebrow; Horizontal eyebrow; Straight eyebrow","HPO_Name__c":"Horizontal eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000176","HPO_Synonym__c":"Partial thickness cleft hard palate","HPO_Name__c":"Submucous cleft hard palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000396","HPO_Synonym__c":"Over-folded helices; Overfolded ears; Overfolded helices","HPO_Name__c":"Overfolded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the caudate nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002339","HPO_Synonym__c":"Abnormality of the caudate nucleus","HPO_Name__c":"Abnormal caudate nucleus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007010","HPO_Synonym__c":"Fine motor disability; Fine motor impairment; Fine motor skill dysfunction; Impaired fine motor skills","HPO_Name__c":"Poor fine motor coordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031434","HPO_Name__c":"Abnormal prosody","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the acquisition of the ability to understand the speech of others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010863","HPO_Name__c":"Receptive language delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007015","HPO_Synonym__c":"Gross motor impairment","HPO_Name__c":"Poor gross motor coordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209908","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002474","HPO_Synonym__c":"Deficit in expressive language","HPO_Name__c":"Expressive language delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["cas"," developmental verbal dyspraxia"," isolated cas"," isolated cas (childhood apraxia of speech)"," isolated childhood apraxia of speech"," isolated developmental verbal dyspraxia"," pure cas"," pure cas (childhood apraxia of speech)"," pure childhood apraxia of speech"," spch1"," speech and language disorder with orofacial dyspraxia"," speech language disorder"," speech-language disorder type 1"]}