MCID: CHL109
MIFTS: 31

Childhood Apraxia of Speech

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Childhood Apraxia of Speech

MalaCards integrated aliases for Childhood Apraxia of Speech:

Name: Childhood Apraxia of Speech 49 55
Speech and Language Disorder with Orofacial Dyspraxia 49 55
Developmental Verbal Dyspraxia 49 55
Cas 49 55
Articulation Disorders, Developmental 69
Developmental Apraxia of Speech 49
Apraxia, Developmental Verbal 69
Developmental Verbal Apraxia 49
Apraxia, Articulatory 69
Articulatory Apraxia 49
Das 49

Characteristics:

Orphanet epidemiological data:

55
childhood apraxia of speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA209908

Summaries for Childhood Apraxia of Speech

NIH Rare Diseases : 49 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. In many cases, the underlying cause of childhood apraxia of speech is unknown (idiopathic). Some cases are associated with a known neurological cause (such as intrauterine or early childhood stroke, infection, trauma, brain cancer or tumor resection, traumatic brain injury, etc.), and other cases occur as part of a complex neurobehavioral disorder (such as autism, epilepsy, fragile X syndrome, galactosemia, Rett syndrome, Prader-Willi syndrome or certain types of chromosome abnormalities). In some cases, researchers have found alterations (mutations) in the FOXP2 gene or loss of genetic material involving this gene. 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: 5/30/2017

MalaCards based summary : Childhood Apraxia of Speech, also known as speech and language disorder with orofacial dyspraxia, is related to apraxia and specific language impairment, and has symptoms including aprosodia An important gene associated with Childhood Apraxia of Speech is FOXP2 (Forkhead Box P2). Affiliated tissues include brain and tongue.

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 98)
# Related Disease Score Top Affiliating Genes
1 apraxia 30.8 FOXP2 ZGRF1
2 specific language impairment 29.8 CNTNAP2 FOXP2
3 pervasive developmental disorder 29.7 CNTNAP2 FOXP2
4 autism 29.2 CNTNAP2 FOXP2
5 richieri costa da silva syndrome 12.0
6 foxp2-related speech and language disorders 11.8
7 erythrokeratodermia variabilis et progressiva 1 11.5
8 scott syndrome 11.3
9 gastric cancer 11.3
10 pancreatic cancer 11.3
11 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.2
12 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
13 esophageal cancer 11.2
14 spinocerebellar ataxia 36 11.2
15 hepatocellular carcinoma 11.1
16 endometrial cancer 11.0
17 gallbladder cancer 11.0
18 myotonia with skeletal abnormalities and mental retardation 11.0
19 intellectual disability - hypoplastic corpus callosum - preauricular tag 11.0
20 hypomagnesemia 3, renal 11.0
21 carbonic anhydrase va deficiency 11.0
22 penile cancer 10.9
23 goiter, multinodular, cystic renal disease, and digital anomalies 10.9
24 orthostatic intolerance 10.9
25 daneman davy mancer syndrome 10.9
26 brachyolmia type 3 10.9
27 neonatal stroke 10.9
28 galloway-mowat syndrome 10.9
29 liver angiosarcoma 10.9
30 bile duct carcinoma 10.9
31 amyloidosis, hereditary, transthyretin-related 10.8
32 arthrogryposis, distal, type 1a 10.8
33 arthrogryposis, distal, type 5 10.8
34 acrocallosal syndrome 10.8
35 congenital disorder of glycosylation, type ia 10.8
36 occipital horn syndrome 10.8
37 congenital disorder of glycosylation, type id 10.8
38 congenital disorder of glycosylation, type ib 10.8
39 congenital disorder of glycosylation, type ih 10.8
40 congenital disorder of glycosylation, type ik 10.8
41 phosphohydroxylysinuria 10.8
42 palmoplantar keratoderma and congenital alopecia 1 10.7
43 palmoplantar keratoderma and congenital alopecia 2 10.7
44 carbonic anhydrase va deficiency, hyperammonemia due to 10.7
45 tracheal cancer 10.7
46 descending colon cancer 10.7
47 splenic flexure cancer 10.7
48 vulva cancer 10.7
49 supraglottis cancer 10.7
50 bone cancer 10.7

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:


# Name Status NCT ID Phase Drugs
1 Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program Completed NCT01097161
2 Treating Childhood Apraxia of Speech Recruiting NCT03238677

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:

38
Brain, Tongue

Publications for Childhood Apraxia of Speech

Articles related to Childhood Apraxia of Speech:

(show top 50) (show all 92)
# Title Authors Year
1
Poor Speech Perception Is Not a Core Deficit of Childhood Apraxia of Speech: Preliminary Findings. ( 29450502 )
2018
2
Model-Driven Treatment of Childhood Apraxia of Speech: Positive Effects of the Speech Motor Learning Approach. ( 29222568 )
2018
3
Combined clinician-parent delivery of rapid syllable transition (ReST) treatment for childhood apraxia of speech. ( 28443686 )
2017
4
Parent experiences of variations in service delivery of Rapid Syllable Transition (ReST) treatment for childhood apraxia of speech. ( 28534689 )
2017
5
The Effect of Hand Gesture Cues Within the Treatment of /r/ for a College-Aged Adult With Persisting Childhood Apraxia of Speech. ( 29114768 )
2017
6
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: III. Theoretical Coherence of the Pause Marker with Speech Processing Deficits in Childhood Apraxia of Speech. ( 28384751 )
2017
7
Parental experiences and perceptions related to childhood apraxia of speech: Focus on functional implications. ( 28786692 )
2017
8
Speech Inconsistency in Children With Childhood Apraxia of Speech, Language Impairment, and Speech Delay: Depends on the Stimuli. ( 28395359 )
2017
9
Changes in movement transitions across a practice period in childhood apraxia of speech. ( 29281317 )
2017
10
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker. ( 28384779 )
2017
11
Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech. ( 28933620 )
2017
12
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker. ( 28384803 )
2017
13
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index. ( 28384662 )
2017
14
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: Introduction. ( 28384695 )
2017
15
Variable Practice to Enhance Speech Learning in Ultrasound Biofeedback Treatment for Childhood Apraxia of Speech: A Single Case Experimental Study. ( 28715554 )
2017
16
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. ( 27120335 )
2016
17
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech. ( 27707700 )
2016
18
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ( 26833960 )
2016
19
Childhood apraxia of speech: A survey of praxis and typical speech characteristics. ( 27241138 )
2016
20
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26763793 )
2016
21
Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach. ( 27882295 )
2016
22
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. ( 27161038 )
2016
23
Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task. ( 27750297 )
2016
24
Oral Articulatory Control in Childhood Apraxia of Speech. ( 25951237 )
2015
25
Differential diagnosis of children with suspected childhood apraxia of speech. ( 25480674 )
2015
26
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26173965 )
2015
27
Cognitive functions in Childhood Apraxia of Speech. ( 25675214 )
2015
28
Tools for the assessment of childhood apraxia of speech. ( 26691627 )
2015
29
Reliance on auditory feedback in children with childhood apraxia of speech. ( 25662298 )
2015
30
Motor functions and adaptive behaviour in children with childhood apraxia of speech. ( 25740430 )
2015
31
Treatment intensity and childhood apraxia of speech. ( 25581372 )
2015
32
Volubility, consonant, and syllable characteristics in infants and toddlers later diagnosed with childhood apraxia of speech: A pilot study. ( 25934424 )
2015
33
Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group. ( 25664542 )
2015
34
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. ( 26097074 )
2015
35
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
36
Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children. ( 26552038 )
2015
37
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: The effect of lower dose-Frequency. ( 25052390 )
2014
38
A systematic review of treatment outcomes for children with childhood apraxia of speech. ( 24686844 )
2014
39
Neurophysiology of speech differences in childhood apraxia of speech. ( 25090016 )
2014
40
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. ( 24694312 )
2014
41
Using randomized variable practice in the treatment of childhood apraxia of speech. ( 25017177 )
2014
42
Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study. ( 24773213 )
2014
43
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). ( 25313348 )
2014
44
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. ( 22713806 )
2013
45
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. ( 23339324 )
2013
46
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. ( 22909776 )
2013
47
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. ( 23813194 )
2013
48
Ultrasound biofeedback treatment for persisting childhood apraxia of speech. ( 23813207 )
2013
49
Associations between caregiving, social support, and well-being among parents of children with childhood apraxia of speech. ( 22928745 )
2013
50
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. ( 24083349 )
2013

Variations for Childhood Apraxia of Speech

ClinVar genetic disease variations for Childhood Apraxia of Speech:

6 (show all 27)
# 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_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh38 Chromosome 7, 114652276: 114652277
4 FOXP2 Uniparental disomy of chromosome 7 complex Pathogenic
5 FOXP2 NM_014491.3(FOXP2): c.1591T> C (p.Tyr531His) single nucleotide variant Pathogenic rs879253772 GRCh37 Chromosome 7, 114299672: 114299672
6 FOXP2 NM_148898.3(FOXP2): c.570_581dupACAACAGCAGCA (p.Gln216_His217insGlnGlnGlnGln) duplication Pathogenic rs879253770 GRCh37 Chromosome 7, 114269958: 114269969
7 FOXP2 t(3;7)(q23;q31.2) Translocation Pathogenic
8 FOXP2 t(5;7)(q22;q31.2) Translocation Pathogenic
9 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 13, 33833892: 33833897
10 IMMP2L; LRRN3 NC_000007.13: g.109049659_111130658del2081000 deletion Pathogenic GRCh37 Chromosome 7, 109049659: 111130658
11 FOXP2 NC_000007.12: g.111781517_120142536del deletion Pathogenic NCBI36 Chromosome 7, 111781517: 120142536
12 FOXP2 7q31.1-q31.2, 6.5 Mb deletion deletion Pathogenic NCBI36 Chromosome 7, 108290244: 114759023
13 FOXP2 7q31.1-q31.3, 14.8 Mb deletion deletion Pathogenic
14 FOXP2 7q31.1-q31.2, 1.57 Mb deletion deletion Pathogenic
15 FOXP2 7q31.1-q31.2, 9.1 Mb deletion deletion Pathogenic
16 FOXP2 7q31.1-q31.3, 16 Mb deletion deletion Pathogenic
17 FOXP2 7q31.1-q31.3, 11 Mb deletion deletion Pathogenic
18 FOXP2 7q31.1-q31.3, 15 Mb deletion deletion Pathogenic
19 FOXP2 NC_000007.12: g.112946520_114520576del deletion Pathogenic NCBI36 Chromosome 7, 112946520: 114520576
20 FOXP2 7q31.2-q32, 13 Mb deletion deletion Pathogenic
21 FOXP2 7q31.2-q32, 14 Mb deletion deletion Pathogenic
22 FOXP2 7q31.2-q32, 15 Mb deletion deletion Pathogenic
23 FOXP2 7q31.2-q32, 26 Mb deletion deletion Pathogenic
24 FOXP2 7q22-q31.3 deletion (15 Mb) deletion Pathogenic
25 FOXP2 7q22-q31.33, 22 Mb deletion deletion Pathogenic
26 FOXP2 NC_000007.13 undetermined variant Pathogenic
27 FOXP2 NM_148898.3(FOXP2): c.1844+2T> C single nucleotide variant Likely pathogenic rs1135401820 GRCh38 Chromosome 7, 114662188: 114662188

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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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