MCID: CHL109
MIFTS: 32

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 53 59
Speech and Language Disorder with Orofacial Dyspraxia 53 59
Developmental Verbal Dyspraxia 53 59
Cas 53 59
Articulation Disorders, Developmental 73
Developmental Apraxia of Speech 53
Apraxia, Developmental Verbal 73
Developmental Verbal Apraxia 53
Apraxia, Articulatory 73
Articulatory Apraxia 53
Das 53

Characteristics:

Orphanet epidemiological data:

59
childhood apraxia of speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA209908

Summaries for Childhood Apraxia of Speech

NIH Rare Diseases : 53 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.

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.

CDC : 3 Bromobenzylcyanide (CA), Chloroacetophenone (CN), Chlorobenzylidenemalononitrile (CS), Chloropicrin (PS), Dibenzoxazepine (CR)

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 111)
# Related Disease Score Top Affiliating Genes
1 apraxia 30.6 FOXP2 ZGRF1
2 specific language impairment 29.7 CNTNAP2 FOXP2
3 pervasive developmental disorder 29.5 CNTNAP2 FOXP2
4 richieri costa da silva syndrome 12.0
5 erythrokeratodermia variabilis et progressiva 1 11.9
6 foxp2-related speech and language disorders 11.8
7 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.6
8 pancreatic cancer 11.3
9 gastric cancer 11.3
10 scott syndrome 11.3
11 esophageal cancer 11.2
12 spinocerebellar ataxia 36 11.2
13 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.2
14 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
15 hepatocellular carcinoma 11.1
16 endometrial cancer 11.1
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 tracheal cancer 10.9
23 penile cancer 10.9
24 goiter, multinodular, cystic renal disease, and digital anomalies 10.9
25 orthostatic intolerance 10.9
26 daneman davy mancer syndrome 10.9
27 amyloidosis, hereditary, transthyretin-related 10.8
28 arthrogryposis, distal, type 1a 10.8
29 arthrogryposis, distal, type 5 10.8
30 acrocallosal syndrome 10.8
31 congenital disorder of glycosylation, type ia 10.8
32 occipital horn syndrome 10.8
33 congenital disorder of glycosylation, type id 10.8
34 congenital disorder of glycosylation, type ib 10.8
35 congenital disorder of glycosylation, type ih 10.8
36 congenital disorder of glycosylation, type ik 10.8
37 phosphohydroxylysinuria 10.8
38 brachyolmia type 3 10.8
39 cowden syndrome 1 10.8
40 proteus syndrome 10.8
41 neonatal stroke 10.8
42 galloway-mowat syndrome 10.8
43 liver angiosarcoma 10.8
44 bile duct carcinoma 10.8
45 palmoplantar keratoderma and congenital alopecia 1 10.7
46 palmoplantar keratoderma and congenital alopecia 2 10.7
47 carbonic anhydrase va deficiency, hyperammonemia due to 10.7
48 gastric fundus cancer 10.7
49 pylorus cancer 10.7
50 descending colon 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 Not Applicable
2 Treating Childhood Apraxia of Speech Recruiting NCT03238677 Not Applicable

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:

41
Brain, Tongue

Publications for Childhood Apraxia of Speech

Articles related to Childhood Apraxia of Speech:

(show top 50) (show all 96)
# Title Authors Year
1
Treating Childhood Apraxia of Speech With the Kaufman Speech to Language Protocol: A Phase I Pilot Study. ( 29625432 )
2018
2
Interventions for childhood apraxia of speech. ( 29845607 )
2018
3
Model-Driven Treatment of Childhood Apraxia of Speech: Positive Effects of the Speech Motor Learning Approach. ( 29222568 )
2018
4
Poor Speech Perception Is Not a Core Deficit of Childhood Apraxia of Speech: Preliminary Findings. ( 29450502 )
2018
5
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
6
Parental experiences and perceptions related to childhood apraxia of speech: Focus on functional implications. ( 28786692 )
2017
7
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker. ( 28384803 )
2017
8
Parent experiences of variations in service delivery of Rapid Syllable Transition (ReST) treatment for childhood apraxia of speech. ( 28534689 )
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: IV. The Pause Marker Index. ( 28384662 )
2017
11
Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech. ( 28933620 )
2017
12
Speech Inconsistency in Children With Childhood Apraxia of Speech, Language Impairment, and Speech Delay: Depends on the Stimuli. ( 28395359 )
2017
13
Combined clinician-parent delivery of rapid syllable transition (ReST) treatment for childhood apraxia of speech. ( 28443686 )
2017
14
The Effect of Hand Gesture Cues Within the Treatment of /r/ for a College-Aged Adult With Persisting Childhood Apraxia of Speech. ( 29114768 )
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
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker. ( 28384779 )
2017
17
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: Introduction. ( 28384695 )
2017
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
Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach. ( 27882295 )
2016
21
Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task. ( 27750297 )
2016
22
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. ( 27120335 )
2016
23
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech. ( 27707700 )
2016
24
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26763793 )
2016
25
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. ( 27161038 )
2016
26
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
27
Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group. ( 25664542 )
2015
28
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26173965 )
2015
29
Oral Articulatory Control in Childhood Apraxia of Speech. ( 25951237 )
2015
30
Reliance on auditory feedback in children with childhood apraxia of speech. ( 25662298 )
2015
31
Motor functions and adaptive behaviour in children with childhood apraxia of speech. ( 25740430 )
2015
32
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. ( 26097074 )
2015
33
Treatment intensity and childhood apraxia of speech. ( 25581372 )
2015
34
Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children. ( 26552038 )
2015
35
Tools for the assessment of childhood apraxia of speech. ( 26691627 )
2015
36
Volubility, consonant, and syllable characteristics in infants and toddlers later diagnosed with childhood apraxia of speech: A pilot study. ( 25934424 )
2015
37
Differential diagnosis of children with suspected childhood apraxia of speech. ( 25480674 )
2015
38
Cognitive functions in Childhood Apraxia of Speech. ( 25675214 )
2015
39
Neurophysiology of speech differences in childhood apraxia of speech. ( 25090016 )
2014
40
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). ( 25313348 )
2014
41
Using randomized variable practice in the treatment of childhood apraxia of speech. ( 25017177 )
2014
42
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: The effect of lower dose-Frequency. ( 25052390 )
2014
43
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. ( 24694312 )
2014
44
Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study. ( 24773213 )
2014
45
A systematic review of treatment outcomes for children with childhood apraxia of speech. ( 24686844 )
2014
46
Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach. ( 23813194 )
2013
47
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. ( 23339324 )
2013
48
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. ( 24083349 )
2013
49
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. ( 22713806 )
2013
50
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. ( 22909774 )
2013

Variations for Childhood Apraxia of Speech

ClinVar genetic disease variations for Childhood Apraxia of Speech:

6
(show top 50) (show all 210)
# 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.1658G> A (p.Arg553His) single nucleotide variant Pathogenic rs121908377 GRCh38 Chromosome 7, 114662075: 114662075
3 FOXP2 NM_014491.3(FOXP2): c.982C> T (p.Arg328Ter) single nucleotide variant Pathogenic rs121908378 GRCh37 Chromosome 7, 114282671: 114282671
4 FOXP2 NM_014491.3(FOXP2): c.982C> T (p.Arg328Ter) single nucleotide variant Pathogenic rs121908378 GRCh38 Chromosome 7, 114642616: 114642616
5 FOXP2 NM_014491.3(FOXP2): c.741C> T (p.Gly247=) single nucleotide variant Benign rs61732741 GRCh37 Chromosome 7, 114271726: 114271726
6 FOXP2 NM_014491.3(FOXP2): c.741C> T (p.Gly247=) single nucleotide variant Benign rs61732741 GRCh38 Chromosome 7, 114631671: 114631671
7 FOXP2 NM_014491.3(FOXP2): c.1770-4dupT duplication Conflicting interpretations of pathogenicity rs398005923 GRCh37 Chromosome 7, 114303501: 114303501
8 FOXP2 NM_014491.3(FOXP2): c.1770-4dupT duplication Conflicting interpretations of pathogenicity rs398005923 GRCh38 Chromosome 7, 114663446: 114663446
9 FOXP2 NM_014491.3(FOXP2): c.50A> T (p.Gln17Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201649896 GRCh37 Chromosome 7, 114066616: 114066616
10 FOXP2 NM_014491.3(FOXP2): c.50A> T (p.Gln17Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201649896 GRCh38 Chromosome 7, 114426561: 114426561
11 FOXP2 GRCh37/hg19 7q31.1(chr7: 113925160..113934427)x1 copy number loss Benign GRCh37 Chromosome 7, 113925160: 113934427
12 FOXP2 GRCh37/hg19 7q31.1(chr7: 113925160..113934427)x1 copy number loss Benign GRCh38 Chromosome 7, 114285105: 114294372
13 FOXP2 NM_014491.3(FOXP2): c.1266+8C> T single nucleotide variant Likely benign rs139649711 GRCh37 Chromosome 7, 114294072: 114294072
14 FOXP2 NM_014491.3(FOXP2): c.1266+8C> T single nucleotide variant Likely benign rs139649711 GRCh38 Chromosome 7, 114654017: 114654017
15 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 13, 33833892: 33833897
16 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 7, 114637586: 114637591
17 IMMP2L; LRRN3 NC_000007.13: g.109049659_111130658del2081000 deletion Pathogenic GRCh37 Chromosome 7, 109049659: 111130658
18 FOXP2 NC_000007.12: g.111781517_120142536del deletion Pathogenic NCBI36 Chromosome 7, 111781517: 120142536
19 FOXP2 7q31.1-q31.2, 6.5 Mb deletion deletion Pathogenic NCBI36 Chromosome 7, 108290244: 114759023
20 FOXP2 NM_148898.3(FOXP2): c.570_581dupACAACAGCAGCA (p.Gln216_His217insGlnGlnGlnGln) duplication Pathogenic rs879253770 GRCh37 Chromosome 7, 114269958: 114269969
21 FOXP2 NM_148898.3(FOXP2): c.570_581dupACAACAGCAGCA (p.Gln216_His217insGlnGlnGlnGln) duplication Pathogenic rs879253770 GRCh38 Chromosome 7, 114629903: 114629914
22 FOXP2 NM_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh37 Chromosome 7, 114292331: 114292332
23 FOXP2 NM_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh38 Chromosome 7, 114652276: 114652277
24 FOXP2 NM_014491.3(FOXP2): c.1789A> C (p.Asn597His) single nucleotide variant Uncertain significance rs766476648 GRCh37 Chromosome 7, 114303524: 114303524
25 FOXP2 NM_014491.3(FOXP2): c.1789A> C (p.Asn597His) single nucleotide variant Uncertain significance rs766476648 GRCh38 Chromosome 7, 114663469: 114663469
26 FOXP2 t(3;7)(q23;q31.2) Translocation Pathogenic
27 FOXP2 t(5;7)(q22;q31.2) Translocation Pathogenic
28 FOXP2 7q31.1-q31.3, 14.8 Mb deletion deletion Pathogenic
29 FOXP2 7q31.1-q31.2, 1.57 Mb deletion deletion Pathogenic
30 FOXP2 7q31.1-q31.2, 9.1 Mb deletion deletion Pathogenic
31 FOXP2 7q31.1-q31.3, 16 Mb deletion deletion Pathogenic
32 FOXP2 7q31.1-q31.3, 11 Mb deletion deletion Pathogenic
33 FOXP2 7q31.1-q31.3, 15 Mb deletion deletion Pathogenic
34 FOXP2 NC_000007.12: g.112946520_114520576del deletion Pathogenic NCBI36 Chromosome 7, 112946520: 114520576
35 FOXP2 7q31.2-q32, 13 Mb deletion deletion Pathogenic
36 FOXP2 7q31.2-q32, 14 Mb deletion deletion Pathogenic
37 FOXP2 7q31.2-q32, 15 Mb deletion deletion Pathogenic
38 FOXP2 7q31.2-q32, 26 Mb deletion deletion Pathogenic
39 FOXP2 7q22-q31.3 deletion (15 Mb) deletion Pathogenic
40 FOXP2 7q22-q31.33, 22 Mb deletion deletion Pathogenic
41 FOXP2 NC_000007.13 undetermined variant Pathogenic
42 FOXP2 Uniparental disomy of chromosome 7 complex Pathogenic
43 FOXP2 NM_014491.3(FOXP2): c.1591T> C (p.Tyr531His) single nucleotide variant Pathogenic rs879253772 GRCh37 Chromosome 7, 114299672: 114299672
44 FOXP2 NM_014491.3(FOXP2): c.1591T> C (p.Tyr531His) single nucleotide variant Pathogenic rs879253772 GRCh38 Chromosome 7, 114659617: 114659617
45 FOXP2 NM_014491.3(FOXP2): c.-335A> G single nucleotide variant Uncertain significance rs531957198 GRCh38 Chromosome 7, 114415036: 114415036
46 FOXP2 NM_014491.3(FOXP2): c.-335A> G single nucleotide variant Uncertain significance rs531957198 GRCh37 Chromosome 7, 114055091: 114055091
47 FOXP2 NM_014491.3(FOXP2): c.-99G> A single nucleotide variant Benign rs116320717 GRCh38 Chromosome 7, 114415272: 114415272
48 FOXP2 NM_014491.3(FOXP2): c.-99G> A single nucleotide variant Benign rs116320717 GRCh37 Chromosome 7, 114055327: 114055327
49 FOXP2 NM_014491.3(FOXP2): c.-16G> A single nucleotide variant Uncertain significance rs886061914 GRCh38 Chromosome 7, 114415355: 114415355
50 FOXP2 NM_014491.3(FOXP2): c.-16G> A single nucleotide variant Uncertain significance rs886061914 GRCh37 Chromosome 7, 114055410: 114055410

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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