MCID: CHL109
MIFTS: 29

Childhood Apraxia of Speech 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 46 52
Developmental Verbal Dyspraxia 46 52
Speech and Language Disorder with Orofacial Dyspraxia 52
Articulation Disorders, Developmental 66
Developmental Apraxia of Speech 46
Apraxia, Developmental Verbal 66
 
Developmental Verbal Apraxia 46
Apraxia, Articulatory 66
Articulatory Apraxia 46
Cas 52
Das 46

Characteristics:

Orphanet epidemiological data:

52
developmental verbal dyspraxia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA209908

Summaries for Childhood Apraxia of Speech

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NIH Rare Diseases:46 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, compensatory articulatory substitution and specific learning problem. 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 104)
idRelated DiseaseScoreTop Affiliating Genes
1richieri costa da silva syndrome12.0
2foxp2-related speech and language disorders11.6
3pancreatic cancer11.3
4stomach cancer11.3
5spinocerebellar ataxia 3611.2
6erythrokeratodermia variabilis et progressiva11.2
7myotonia with skeletal abnormalities and mental retardation11.0
8intellectual disability - hypoplastic corpus callosum - preauricular tag11.0
9apraxia10.9
10orthostatic intolerance10.9
11daneman davy mancer syndrome10.9
12allergic encephalomyelitis10.1
13leukemia10.0
14neuronitis10.0
15galactosemia9.9
16kleefstra syndrome9.9
17cri-du-chat syndrome9.9
18sleep apnea9.9
19obstructive sleep apnea9.9
20pervasive developmental disorder9.9
21specific language impairment9.9
22meningitis9.9
23arthrogryposis, distal, type 2b9.9
24arthrogryposis, distal, type 59.9
25occipital horn syndrome9.9
26phosphohydroxylysinuria9.9
27mutism9.9CNTNAP2, FOXP2
28acne9.9
29aseptic meningitis9.9
30scoliosis9.9CNTNAP2, FOXP2
31tinea manuum9.8CNTNAP2, FOXP2
32periodic limb movement disorder9.8CNTNAP2, FOXP2
33pheochromocytoma9.8
34atopy9.8
35asthma9.8
36birdshot chorioretinopathy9.8
37arthritis9.8
38mumps9.8
39megaesophagus9.8
40acute pancreatitis9.8
41pancreatitis9.8
42diabetic macular edema9.8
43allergic asthma9.8
44cardiomyopathy9.8
45ataxia9.8
46endotheliitis9.8
47simpson-golabi-behmel syndrome9.7CNTNAP2, FOXP2
48sexual disorder9.7CNTNAP2, FOXP2
49obesity9.6
50esophageal cancer9.6

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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UMLS symptoms related to Childhood Apraxia of Speech:


aprosodia, compensatory articulatory substitution, specific learning problem, other speech disturbances

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:

34
Tongue, 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 74)
idTitleAuthorsYear
1
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. (27120335)
2016
2
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. (26763793)
2016
3
Childhood apraxia of speech: A survey of praxis and typical speech characteristics. (27241138)
2016
4
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. (27161038)
2016
5
Oral Articulatory Control in Childhood Apraxia of Speech. (25951237)
2015
6
Differential diagnosis of children with suspected childhood apraxia of speech. (25480674)
2015
7
Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children. (26552038)
2015
8
Reliance on auditory feedback in children with childhood apraxia of speech. (25662298)
2015
9
Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group. (25664542)
2015
10
Volubility, consonant, and syllable characteristics in infants and toddlers later diagnosed with childhood apraxia of speech: A pilot study. (25934424)
2015
11
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
12
Treatment intensity and childhood apraxia of speech. (25581372)
2015
13
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. (26097074)
2015
14
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). (25313348)
2014
15
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: The effect of lower dose-Frequency. (25052390)
2014
16
A systematic review of treatment outcomes for children with childhood apraxia of speech. (24686844)
2014
17
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. (24694312)
2014
18
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. (23813207)
2013
19
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. (23813194)
2013
20
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. (23339324)
2013
21
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
22
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. (24083349)
2013
23
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. (22909776)
2013
24
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
25
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. (22766611)
2012
26
Mismatch negativity responses in children with a diagnosis of childhood apraxia of speech (CAS). (22564903)
2012
27
Feedback frequency in treatment for childhood apraxia of speech. (22442284)
2012
28
A comparison of two treatments for childhood apraxia of speech: methods and treatment protocol for a parallel group randomised control trial. (22863021)
2012
29
Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis. (22257070)
2012
30
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
31
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. (20966389)
2011
32
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
33
Childhood apraxia of speech and multiple phonological disorders in Cairo-Egyptian Arabic speaking children: language, speech, and oro-motor differences. (20202694)
2010
34
Speech motor development in childhood apraxia of speech: generating testable hypotheses by neurocomputational modeling. (20424469)
2010
35
Aerodynamic indices of velopharyngeal function in childhood apraxia of speech. (20136498)
2010
36
Through the magnifying glass: Underlying literacy deficits and remediation potential in childhood apraxia of speech. (20380250)
2010
37
A Cochrane review of treatment for childhood apraxia of speech. (19156019)
2009
38
Results of the Sensory Profile in children with suspected childhood apraxia of speech. (19401932)
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
Obstructive sleep apnea, seizures, and childhood apraxia of speech. (18486825)
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
Diagnostic Assessment of Childhood Apraxia of Speech Using Automatic Speech Recognition (ASR) Methods. (17066124)
2004
47
Family pedigrees of children with suspected childhood apraxia of speech. (15013731)
2004
48
School-age follow-up of children with childhood apraxia of speech. (15191325)
2004
49
A diagnostic marker for childhood apraxia of speech: the lexical stress ratio. (14608799)
2003
50
A diagnostic marker for childhood apraxia of speech: the coefficient of variation ratio. (14608800)
2003

Variations for Childhood Apraxia of Speech

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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:00219879.0CNTNAP2, FOXP2
2vocal learningGO:00422978.7CNTNAP2, FOXP2

Sources for Childhood Apraxia of Speech

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet