CAS
MCID: CHL109
MIFTS: 28

Childhood Apraxia of Speech (CAS) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Childhood Apraxia of Speech

Aliases & Descriptions for Childhood Apraxia of Speech:

Name: Childhood Apraxia of Speech 50 56
Developmental Verbal Dyspraxia 50 56
Speech and Language Disorder with Orofacial Dyspraxia 56
Articulation Disorders, Developmental 69
Developmental Apraxia of Speech 50
Apraxia, Developmental Verbal 69
Developmental Verbal Apraxia 50
Apraxia, Articulatory 69
Articulatory Apraxia 50
Das 50
Cas 56

Characteristics:

Orphanet epidemiological data:

56
childhood apraxia of speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA209908

Summaries for Childhood Apraxia of Speech

NIH Rare Diseases : 50 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

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

(show top 50) (show all 113)
id Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 11.8
2 foxp2-related speech and language disorders 11.7
3 scott syndrome 11.2
4 gastric cancer 11.2
5 pancreatic cancer 11.2
6 spinocerebellar ataxia 36 11.1
7 erythrokeratodermia variabilis et progressiva 11.0
8 myotonia with skeletal abnormalities and mental retardation 10.9
9 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.9
10 apraxia 10.8
11 arthrogryposis, distal, type 5 10.8
12 amyloidosis, hereditary, transthyretin-related 10.8
13 occipital horn syndrome 10.8
14 phosphohydroxylysinuria 10.8
15 arthrogryposis, distal, type 2b 10.8
16 orthostatic intolerance 10.7
17 daneman davy mancer syndrome 10.7
18 allergic encephalomyelitis 9.9
19 leukemia 9.9
20 glucose metabolism disease 9.9 CNTNAP2 FOXP2
21 scrub typhus 9.9 CNTNAP2 FOXP2
22 idiopathic scoliosis 9.8 CNTNAP2 FOXP2
23 sleep apnea 9.8
24 cri-du-chat syndrome 9.8
25 obstructive sleep apnea 9.8
26 pervasive developmental disorder 9.8
27 galactosemia 9.8
28 specific language impairment 9.8
29 kleefstra syndrome 9.8
30 neuronitis 9.8
31 scoliosis 9.8 CNTNAP2 FOXP2
32 amino acid metabolic disorder 9.8 CNTNAP2 FOXP2
33 paraphilia disorder 9.8 CNTNAP2 FOXP2
34 meningitis 9.8
35 sexual disorder 9.8 CNTNAP2 FOXP2
36 aseptic meningitis 9.7
37 acne 9.7
38 arthritis 9.7
39 angina pectoris 9.7 CNTNAP2 FOXP2
40 autotopagnosia 9.7 CNTNAP2 ERC1 FOXP2
41 acute pancreatitis 9.6
42 pheochromocytoma 9.6
43 diabetic macular edema 9.6
44 atopy 9.6
45 allergic asthma 9.6
46 cardiomyopathy 9.6
47 asthma 9.6
48 ataxia 9.6
49 megaesophagus 9.6
50 endotheliitis 9.6

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

UMLS symptoms related to Childhood Apraxia of Speech:


aprosodia

Drugs & Therapeutics for Childhood Apraxia of Speech

Interventional clinical trials:


id Name Status NCT ID Phase
1 Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program Completed NCT01097161
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Childhood Apraxia of Speech

Genetic Tests for Childhood Apraxia of Speech

Anatomical Context for Childhood Apraxia of Speech

MalaCards organs/tissues related to Childhood Apraxia of Speech:

39
Tongue, Brain

Publications for Childhood Apraxia of Speech

Articles related to Childhood Apraxia of Speech:

(show top 50) (show all 77)
id Title Authors Year
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

ClinVar genetic disease variations for Childhood Apraxia of Speech:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXP2 NM_014491.3(FOXP2): c.1658G> A (p.Arg553His) single nucleotide variant Pathogenic rs121908377 GRCh37 Chromosome 7, 114302130: 114302130
2 FOXP2 NM_014491.3(FOXP2): c.982C> T (p.Arg328Ter) single nucleotide variant Pathogenic rs121908378 GRCh37 Chromosome 7, 114282671: 114282671
3 FOXP2 NM_148898.3(FOXP2): c.570_581dupACAACAGCAGCA (p.Gln216_His217insGlnGlnGlnGln) duplication Pathogenic rs879253770 GRCh37 Chromosome 7, 114269958: 114269969
4 FOXP2 NM_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh37 Chromosome 7, 114292331: 114292332
5 FOXP2 t(3;7)(q23;q31.2) Translocation Pathogenic
6 FOXP2 t(5;7)(q22;q31.2) Translocation Pathogenic
7 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 13, 33833892: 33833897
8 IMMP2L; LRRN3 NC_000007.13: g.109049659_111130658del2081000 deletion Pathogenic GRCh37 Chromosome 7, 109049659: 111130658
9 FOXP2 NC_000007.12: g.111781517_120142536del deletion Pathogenic NCBI36 Chromosome 7, 111781517: 120142536
10 FOXP2 7q31.1-q31.2, 6.5 Mb deletion deletion Pathogenic NCBI36 Chromosome 7, 108290244: 114759023
11 FOXP2 7q31.1-q31.3, 14.8 Mb deletion deletion Pathogenic
12 FOXP2 7q31.1-q31.2, 1.57 Mb deletion deletion Pathogenic
13 FOXP2 7q31.1-q31.2, 9.1 Mb deletion deletion Pathogenic
14 FOXP2 7q31.1-q31.3, 16 Mb deletion deletion Pathogenic
15 FOXP2 7q31.1-q31.3, 11 Mb deletion deletion Pathogenic
16 FOXP2 7q31.1-q31.3, 15 Mb deletion deletion Pathogenic
17 FOXP2 NC_000007.12: g.112946520_114520576del deletion Pathogenic NCBI36 Chromosome 7, 112946520: 114520576
18 FOXP2 7q31.2-q32, 13 Mb deletion deletion Pathogenic
19 FOXP2 7q31.2-q32, 14 Mb deletion deletion Pathogenic
20 FOXP2 7q31.2-q32, 15 Mb deletion deletion Pathogenic
21 FOXP2 7q31.2-q32, 26 Mb deletion deletion Pathogenic
22 FOXP2 7q22-q31.3 deletion (15 Mb) deletion Pathogenic
23 FOXP2 7q22-q31.33, 22 Mb deletion deletion Pathogenic
24 FOXP2 NC_000007.13 undetermined variant Pathogenic
25 FOXP2 Uniparental disomy of chromosome 7 complex Pathogenic
26 FOXP2 NM_014491.3(FOXP2): c.1591T> C (p.Tyr531His) single nucleotide variant Pathogenic rs879253772 GRCh37 Chromosome 7, 114299672: 114299672

Expression for Childhood Apraxia of Speech

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

Pathways for Childhood Apraxia of Speech

GO Terms for Childhood Apraxia of Speech

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

id Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 8.96 CNTNAP2 FOXP2
2 vocal learning GO:0042297 8.62 CNTNAP2 FOXP2

Sources for Childhood Apraxia of Speech

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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