CAS
MCID: CHL109
MIFTS: 28

Childhood Apraxia of Speech (CAS) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Childhood Apraxia of Speech

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Aliases & Descriptions for Childhood Apraxia of Speech:

Name: Childhood Apraxia of Speech 48 54
Developmental Verbal Dyspraxia 48 54
Speech and Language Disorder with Orofacial Dyspraxia 54
Articulation Disorders, Developmental 68
Developmental Apraxia of Speech 48
Apraxia, Developmental Verbal 68
 
Developmental Verbal Apraxia 48
Apraxia, Articulatory 68
Articulatory Apraxia 48
Das 48
Cas 54

Characteristics:

Orphanet epidemiological data:

54
developmental verbal dyspraxia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA209908

Summaries for Childhood Apraxia of Speech

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NIH Rare Diseases:48 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. the underlying cause is unknown. some researchers believe that childhood apraxia of speech is related to a child's overall language development. others believe it is a neurological disorder that affects the brain's ability to send the proper signals to move the muscles involved in speech. however, brain imaging and other studies have not found evidence of specific brain lesions or differences in brain structure in children with this condition. some children with childhood apraxia of speech have family members who have a history of communication disorders or other learning diaabilities. this observation and recent research findings suggest that genetic factors may play a role. treatment of childhood apraxia of speech involves speech therapy with a speech-language pathologist. those with more severe cases will require more therapy than those with mild cases. the goal of therapy is to increase speech production and intelligibility. in some cases, augmentative and alternative forms of communication may be needed. last updated: 1/4/2016

MalaCards based summary: Childhood Apraxia of Speech, also known as developmental verbal dyspraxia, is related to richieri costa da silva syndrome and foxp2-related speech and language disorders, and has symptoms including aprosodia An important gene associated with Childhood Apraxia of Speech is FOXP2 (Forkhead Box P2). Affiliated tissues include tongue and brain.

Related Diseases for Childhood Apraxia of Speech

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Diseases related to Childhood Apraxia of Speech via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1richieri costa da silva syndrome11.8
2foxp2-related speech and language disorders11.7
3scott syndrome11.2
4gastric cancer11.2
5pancreatic cancer11.2
6spinocerebellar ataxia 3611.1
7erythrokeratodermia variabilis et progressiva11.0
8myotonia with skeletal abnormalities and mental retardation10.9
9intellectual disability - hypoplastic corpus callosum - preauricular tag10.9
10apraxia10.8
11arthrogryposis, distal, type 2b10.8
12arthrogryposis, distal, type 510.8
13amyloidosis, hereditary, transthyretin-related10.8
14occipital horn syndrome10.8
15phosphohydroxylysinuria10.8
16orthostatic intolerance10.7
17daneman davy mancer syndrome10.7
18allergic encephalomyelitis9.9
19leukemia9.9
20glucose metabolism disease9.9CNTNAP2, FOXP2
21scrub typhus9.9CNTNAP2, FOXP2
22idiopathic scoliosis9.8CNTNAP2, FOXP2
23galactosemia9.8
24kleefstra syndrome9.8
25cri-du-chat syndrome9.8
26sleep apnea9.8
27obstructive sleep apnea9.8
28pervasive developmental disorder9.8
29specific language impairment9.8
30neuronitis9.8
31scoliosis9.8CNTNAP2, FOXP2
32amino acid metabolic disorder9.8CNTNAP2, FOXP2
33paraphilia disorder9.8CNTNAP2, FOXP2
34meningitis9.8
35sexual disorder9.8CNTNAP2, FOXP2
36acne9.7
37arthritis9.7
38aseptic meningitis9.7
39angina pectoris9.7CNTNAP2, FOXP2
40autotopagnosia9.7CNTNAP2, ERC1, FOXP2
41pheochromocytoma9.6
42atopy9.6
43asthma9.6
44birdshot chorioretinopathy9.6
45mumps9.6
46megaesophagus9.6
47acute pancreatitis9.6
48pancreatitis9.6
49diabetic macular edema9.6
50allergic asthma9.6

Graphical network of the top 20 diseases related to Childhood Apraxia of Speech:



Diseases related to childhood apraxia of speech

Symptoms & Phenotypes for Childhood Apraxia of Speech

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UMLS symptoms related to Childhood Apraxia of Speech:


aprosodia

Drugs & Therapeutics for Childhood Apraxia of Speech

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Stuttering and Apraxia of Speech: the Efficacy of an Intervention ProgramCompletedNCT01097161
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Childhood Apraxia of Speech

Genetic Tests for Childhood Apraxia of Speech

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Anatomical Context for Childhood Apraxia of Speech

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MalaCards organs/tissues related to Childhood Apraxia of Speech:

36
Tongue, Brain

Publications for Childhood Apraxia of Speech

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Articles related to Childhood Apraxia of Speech:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Childhood apraxia of speech: A survey of praxis and typical speech characteristics. (27241138)
2016
2
Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task. (27750297)
2016
3
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. (26763793)
2016
4
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech. (27707700)
2016
5
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. (27161038)
2016
6
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. (27120335)
2016
7
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. (26833960)
2016
8
Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach. (27882295)
2016
9
A Randomized Controlled Trial for children with Childhood Apraxia of Speech comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme (3rd edition). (25807891)
2015
10
Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group. (25664542)
2015
11
Motor functions and adaptive behaviour in children with childhood apraxia of speech. (25740430)
2015
12
Tools for the assessment of childhood apraxia of speech. (26691627)
2015
13
Differential diagnosis of children with suspected childhood apraxia of speech. (25480674)
2015
14
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. (26097074)
2015
15
Volubility, consonant, and syllable characteristics in infants and toddlers later diagnosed with childhood apraxia of speech: A pilot study. (25934424)
2015
16
Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children. (26552038)
2015
17
Oral Articulatory Control in Childhood Apraxia of Speech. (25951237)
2015
18
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. (26173965)
2015
19
Reliance on auditory feedback in children with childhood apraxia of speech. (25662298)
2015
20
Treatment intensity and childhood apraxia of speech. (25581372)
2015
21
Cognitive functions in Childhood Apraxia of Speech. (25675214)
2015
22
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. (24694312)
2014
23
Using randomized variable practice in the treatment of childhood apraxia of speech. (25017177)
2014
24
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: The effect of lower dose-Frequency. (25052390)
2014
25
Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study. (24773213)
2014
26
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). (25313348)
2014
27
Neurophysiology of speech differences in childhood apraxia of speech. (25090016)
2014
28
A systematic review of treatment outcomes for children with childhood apraxia of speech. (24686844)
2014
29
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. (22909774)
2013
30
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. (23339324)
2013
31
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
32
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. (23813194)
2013
33
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. (24083349)
2013
34
Associations between caregiving, social support, and well-being among parents of children with childhood apraxia of speech. (22928745)
2013
35
Early development in infants at risk of childhood apraxia of speech: a longitudinal investigation. (23573797)
2013
36
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. (22909776)
2013
37
Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study. (23339292)
2013
38
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. (23918746)
2013
39
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. (22713806)
2013
40
Random versus blocked practice in treatment for childhood apraxia of speech. (22207698)
2012
41
Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis. (22257070)
2012
42
Mismatch negativity responses in children with a diagnosis of childhood apraxia of speech (CAS). (22564903)
2012
43
Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech. (22489736)
2012
44
Clear as mud: another look at autism, childhood apraxia of speech and auditory processing. (22450249)
2012
45
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. (22766611)
2012
46
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
47
Feedback frequency in treatment for childhood apraxia of speech. (22442284)
2012
48
A comparison of two treatments for childhood apraxia of speech: methods and treatment protocol for a parallel group randomised control trial. (22863021)
2012
49
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
50
Lexical and phonological development in children with childhood apraxia of speech--a commentary on Stoel-Gammon's 'Relationships between lexical and phonological development in young children'. (20950498)
2011

Variations for Childhood Apraxia of Speech

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Clinvar genetic disease variations for Childhood Apraxia of Speech:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1FOXP2NM_ 148898.3(FOXP2): c.570_ 581dupACAACAGCAGCA (p.Gln216_ His217insGlnGlnGlnGln)duplicationPathogenicrs879253770GRCh37Chr 7, 114269958: 114269969
2FOXP2NM_ 014491.3(FOXP2): c.1168_ 1169delCA (p.Gln390ValfsTer7)deletionPathogenicrs879253771GRCh37Chr 7, 114292331: 114292332
3FOXP2t(3;7)(q23;q31.2)TranslocationPathogenic
4FOXP2t(5;7)(q22;q31.2)TranslocationPathogenic
5FOXP2t(7;13)(q31.1;q13.2)TranslocationPathogenicGRCh38Chr 13, 33833892: 33833897
6IMMP2L; LRRN3NC_ 000007.13: g.109049659_ 111130658del2081000deletionPathogenicGRCh37Chr 7, 109049659: 111130658
7FOXP2NC_ 000007.12: g.111781517_ 120142536deldeletionPathogenicNCBI36Chr 7, 111781517: 120142536
8FOXP27q31.1-q31.2, 6.5 Mb deletiondeletionPathogenicNCBI36Chr 7, 108290244: 114759023
9FOXP27q31.1-q31.3, 14.8 Mb deletiondeletionPathogenic
10FOXP27q31.1-q31.2, 1.57 Mb deletiondeletionPathogenic
11FOXP27q31.1-q31.2, 9.1 Mb deletiondeletionPathogenic
12FOXP27q31.1-q31.3, 16 Mb deletiondeletionPathogenic
13FOXP27q31.1-q31.3, 11 Mb deletiondeletionPathogenic
14FOXP27q31.1-q31.3, 15 Mb deletiondeletionPathogenic
15FOXP2NC_ 000007.12: g.112946520_ 114520576deldeletionPathogenicNCBI36Chr 7, 112946520: 114520576
16FOXP27q31.2-q32, 13 Mb deletiondeletionPathogenic
17FOXP27q31.2-q32, 14 Mb deletiondeletionPathogenic
18FOXP27q31.2-q32, 15 Mb deletiondeletionPathogenic
19FOXP27q31.2-q32, 26 Mb deletiondeletionPathogenic
20FOXP27q22-q31.3 deletion (15 Mb)deletionPathogenic
21FOXP27q22-q31.33, 22 Mb deletiondeletionPathogenic
22FOXP2NC_ 000007.13: g.(20954043_ 21001537)_ (114528369_ 114556605)undetermined variantPathogenic
23FOXP2Uniparental disomy of chromosome 7complexPathogenic
24FOXP2NM_ 014491.3(FOXP2): c.1591T> C (p.Tyr531His)SNVPathogenicrs879253772GRCh37Chr 7, 114299672: 114299672
25FOXP2NM_ 014491.3(FOXP2): c.1658G> A (p.Arg553His)SNVPathogenicrs121908377GRCh37Chr 7, 114302130: 114302130
26FOXP2NM_ 014491.3(FOXP2): c.982C> T (p.Arg328Ter)SNVPathogenicrs121908378GRCh37Chr 7, 114282671: 114282671

Expression for genes affiliated with Childhood Apraxia of Speech

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Search GEO for disease gene expression data for Childhood Apraxia of Speech.

Pathways for genes affiliated with Childhood Apraxia of Speech

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GO Terms for genes affiliated with Childhood Apraxia of Speech

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Biological processes related to Childhood Apraxia of Speech according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cerebral cortex developmentGO:00219879.3CNTNAP2, FOXP2
2vocal learningGO:00422979.1CNTNAP2, FOXP2

Sources for Childhood Apraxia of Speech

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet