CAS
MCID: CHL109
MIFTS: 31

Childhood Apraxia of Speech (CAS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Childhood Apraxia of Speech

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Wikipedia:65 Developmental verbal dyspraxia (DVD), also known as childhood apraxia of speech (CAS) and developmental... more...

MalaCards based summary: Childhood Apraxia of Speech, also known as developmental verbal dyspraxia, is related to apraxia and neuronitis, and has symptoms including An important gene associated with Childhood Apraxia of Speech is FOXP2 (forkhead box P2). Affiliated tissues include brain.

Description from OMIM:46 602081

Aliases & Classifications for Childhood Apraxia of Speech

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Childhood Apraxia of Speech, Aliases & Descriptions:

Name: Childhood Apraxia of Speech 48 46 62
Developmental Verbal Dyspraxia 48 62
Speech and Language Disorder with Orofacial Dyspraxia 48
 
Cataract-Alopecia-Sclerodactyly Syndrome 62
Cas 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
childhood apraxia of speech:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 602081

Related Diseases for Childhood Apraxia of Speech

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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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Symptoms by clinical synopsis from OMIM:

602081

Clinical features from OMIM:

602081

HPO human phenotypes related to Childhood Apraxia of Speech:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the face HP:0000271
3 delayed speech and language development HP:0000750
4 abnormality of the basal ganglia HP:0002134
5 incomprehensible speech HP:0002546
6 oromotor apraxia HP:0007301

Drugs & Therapeutics for Childhood Apraxia of Speech

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Drug clinical trials:

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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:

32
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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Articles related to Childhood Apraxia of Speech:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. (24694312)
2014
2
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). (25313348)
2014
3
Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study. (24773213)
2014
4
Using randomized variable practice in the treatment of childhood apraxia of speech. (25017177)
2014
5
Neurophysiology of speech differences in childhood apraxia of speech. (25090016)
2014
6
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: The effect of lower dose-Frequency. (25052390)
2014
7
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
8
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. (23813194)
2013
9
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. (23339324)
2013
10
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. (22909776)
2013
11
Early development in infants at risk of childhood apraxia of speech: a longitudinal investigation. (23573797)
2013
12
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
13
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. (24083349)
2013
14
Associations between caregiving, social support, and well-being among parents of children with childhood apraxia of speech. (22928745)
2013
15
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. (22909774)
2013
16
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. (22713806)
2013
17
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
18
Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis. (22257070)
2012
19
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. (22766611)
2012
20
Mismatch negativity responses in children with a diagnosis of childhood apraxia of speech (CAS). (22564903)
2012
21
Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech. (22489736)
2012
22
Random versus blocked practice in treatment for childhood apraxia of speech. (22207698)
2012
23
Clear as mud: another look at autism, childhood apraxia of speech and auditory processing. (22450249)
2012
24
Feedback frequency in treatment for childhood apraxia of speech. (22442284)
2012
25
A comparison of two treatments for childhood apraxia of speech: methods and treatment protocol for a parallel group randomised control trial. (22863021)
2012
26
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
27
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
28
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. (20966389)
2011
29
Aerodynamic indices of velopharyngeal function in childhood apraxia of speech. (20136498)
2010
30
Through the magnifying glass: Underlying literacy deficits and remediation potential in childhood apraxia of speech. (20380250)
2010
31
Childhood apraxia of speech and multiple phonological disorders in Cairo-Egyptian Arabic speaking children: language, speech, and oro-motor differences. (20202694)
2010
32
Speech motor development in childhood apraxia of speech: generating testable hypotheses by neurocomputational modeling. (20424469)
2010
33
Evaluation of a combined treatment approach for childhood apraxia of speech. (20345262)
2010
34
A treatment for dysprosody in childhood apraxia of speech. (20798323)
2010
35
A Cochrane review of treatment for childhood apraxia of speech. (19156019)
2009
36
Results of the Sensory Profile in children with suspected childhood apraxia of speech. (19401932)
2009
37
Computational neural modeling of speech motor control in childhood apraxia of speech (CAS). (19951927)
2009
38
Phonological awareness and early reading development in childhood apraxia of speech (CAS). (19234970)
2009
39
Treatment of childhood apraxia of speech: clinical decision making in the use of nonspeech oral motor exercises. (19058115)
2008
40
Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS). (18671280)
2008
41
Intervention for childhood apraxia of speech. (18646142)
2008
42
Childhood apraxia of speech: children at risk for persistent reading and spelling disorder. (17340382)
2007
43
Consonant and syllable structure patterns in childhood apraxia of speech: developmental change in three children. (16469328)
2006
44
Phonological awareness intervention for children with childhood apraxia of speech. (17079224)
2006
45
Timing errors in two children with suspected childhood apraxia of speech (sCAS) during speech and music-related tasks. (15704499)
2005
46
School-age follow-up of children with childhood apraxia of speech. (15191325)
2004
47
Diagnostic Assessment of Childhood Apraxia of Speech Using Automatic Speech Recognition (ASR) Methods. (17066124)
2004
48
Family pedigrees of children with suspected childhood apraxia of speech. (15013731)
2004
49
A diagnostic marker for childhood apraxia of speech: the coefficient of variation ratio. (14608800)
2003
50
A diagnostic marker for childhood apraxia of speech: the lexical stress ratio. (14608799)
2003

Variations for Childhood Apraxia of Speech

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UniProtKB/Swiss-Prot genetic disease variations for Childhood Apraxia of Speech:

64
id Symbol AA change Variation ID SNP ID
1FOXP2p.Arg553HisVAR_012278

Clinvar genetic disease variations for Childhood Apraxia of Speech:

6
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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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
  • Proteins
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Sources for Childhood Apraxia of Speech

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet