CAS
MCID: CHL109
MIFTS: 31

Childhood Apraxia of Speech (CAS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Childhood Apraxia of Speech

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Developmental verbal dyspraxia (DVD), also known as childhood apraxia of speech (CAS) and developmental... more...

MalaCards: Childhood Apraxia of Speech, also known as speech and language disorder with orofacial dyspraxia, is related to apraxia and neuronitis. An important gene associated with Childhood Apraxia of Speech is FOXP2 (forkhead box P2). Affiliated tissues include brain.

Description from OMIM:48 602081

Aliases & Classifications for Childhood Apraxia of Speech

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50Orphanet, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
childhood apraxia of speech:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

childhood apraxia of speech 50 48
speech and language disorder with orofacial dyspraxia 50
cataract-alopecia-sclerodactyly syndrome 63
developmental verbal dyspraxia 50
cas 50


External Ids:

OMIM48 602081

Related Diseases for Childhood Apraxia of Speech

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Childhood Apraxia of Speech:



Diseases related to childhood apraxia of speech

Symptoms for Childhood Apraxia of Speech

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602081

Clinical features from OMIM:

602081

Drugs & Therapeutics for Childhood Apraxia of Speech

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Childhood Apraxia of Speech

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Anatomical Context for Childhood Apraxia of Speech

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34MalaCards
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MalaCards organs/tissues related to Childhood Apraxia of Speech:

34
Brain

Animal Models for Childhood Apraxia of Speech or affiliated genes

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Publications for Childhood Apraxia of Speech

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53PubMed
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Articles related to Childhood Apraxia of Speech:

(show all 48)
idTitleAuthorsYear
1
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
2
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. (23813194)
2013
3
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. (23339324)
2013
4
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. (22909776)
2013
5
Early development in infants at risk of childhood apraxia of speech: a longitudinal investigation. (23573797)
2013
6
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
7
Associations between caregiving, social support, and well-being among parents of children with childhood apraxia of speech. (22928745)
2013
8
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. (22909774)
2013
9
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. (22713806)
2013
10
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. (23918746)
2013
11
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
12
Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis. (22257070)
2012
13
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. (22766611)
2012
14
Mismatch negativity responses in children with a diagnosis of childhood apraxia of speech (CAS). (22564903)
2012
15
Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech. (22489736)
2012
16
Random versus blocked practice in treatment for childhood apraxia of speech. (22207698)
2012
17
Clear as mud: another look at autism, childhood apraxia of speech and auditory processing. (22450249)
2012
18
Feedback frequency in treatment for childhood apraxia of speech. (22442284)
2012
19
A comparison of two treatments for childhood apraxia of speech: methods and treatment protocol for a parallel group randomised control trial. (22863021)
2012
20
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
21
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
22
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. (20966389)
2011
23
Aerodynamic indices of velopharyngeal function in childhood apraxia of speech. (20136498)
2010
24
Through the magnifying glass: Underlying literacy deficits and remediation potential in childhood apraxia of speech. (20380250)
2010
25
Childhood apraxia of speech and multiple phonological disorders in Cairo-Egyptian Arabic speaking children: language, speech, and oro-motor differences. (20202694)
2010
26
Speech motor development in childhood apraxia of speech: generating testable hypotheses by neurocomputational modeling. (20424469)
2010
27
Evaluation of a combined treatment approach for childhood apraxia of speech. (20345262)
2010
28
A treatment for dysprosody in childhood apraxia of speech. (20798323)
2010
29
The relationship between articulatory control and improved phonemic accuracy in childhood apraxia of speech: a longitudinal case study. (20030551)
2010
30
A Cochrane review of treatment for childhood apraxia of speech. (19156019)
2009
31
Results of the Sensory Profile in children with suspected childhood apraxia of speech. (19401932)
2009
32
Computational neural modeling of speech motor control in childhood apraxia of speech (CAS). (19951927)
2009
33
Phonological awareness and early reading development in childhood apraxia of speech (CAS). (19234970)
2009
34
Functional characteristics of children diagnosed with Childhood Apraxia of Speech. (18720114)
2009
35
A longitudinal case study of the effects of an integrated phonological awareness program for identical twin boys with childhood apraxia of speech (CAS). (21271925)
2009
36
Treatment of childhood apraxia of speech: clinical decision making in the use of nonspeech oral motor exercises. (19058115)
2008
37
Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS). (18671280)
2008
38
Intervention for childhood apraxia of speech. (18646142)
2008
39
Obstructive sleep apnea, seizures, and childhood apraxia of speech. (18486825)
2008
40
Childhood apraxia of speech: children at risk for persistent reading and spelling disorder. (17340382)
2007
41
Consonant and syllable structure patterns in childhood apraxia of speech: developmental change in three children. (16469328)
2006
42
Phonological awareness intervention for children with childhood apraxia of speech. (17079224)
2006
43
Timing errors in two children with suspected childhood apraxia of speech (sCAS) during speech and music-related tasks. (15704499)
2005
44
School-age follow-up of children with childhood apraxia of speech. (15191325)
2004
45
Diagnostic Assessment of Childhood Apraxia of Speech Using Automatic Speech Recognition (ASR) Methods. (17066124)
2004
46
Family pedigrees of children with suspected childhood apraxia of speech. (15013731)
2004
47
A diagnostic marker for childhood apraxia of speech: the coefficient of variation ratio. (14608800)
2003
48
A diagnostic marker for childhood apraxia of speech: the lexical stress ratio. (14608799)
2003

Variations for Childhood Apraxia of Speech

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Childhood Apraxia of Speech:

65
id Symbol AA change Variation ID SNP ID
1FOXP2p.Arg553HisVAR_012278

Clinvar genetic disease variations for Childhood Apraxia of Speech:

1
id Gene Name Type Significance SNP ID Assembly Location
1FOXP2NM_148898.3(FOXP2): c.1733G> A (p.Arg578His)single nucleotide variantPathogenicrs121908377GRCh37Chr 7, 114302130: 114302130
2FOXP2NM_148898.3(FOXP2): c.1057C> T (p.Arg353Ter)single nucleotide variantPathogenicrs121908378GRCh37Chr 7, 114282671: 114282671

Expression for genes affiliated with Childhood Apraxia of Speech

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Childhood Apraxia of Speech

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Pathways for genes affiliated with Childhood Apraxia of Speech

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Compounds 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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Products for genes affiliated with Childhood Apraxia of Speech

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  • Antibodies
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Sources for Childhood Apraxia of Speech

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet