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MCID: CHL109
MIFTS: 37

Childhood Apraxia of Speech

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Childhood Apraxia of Speech

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MalaCards integrated aliases for Childhood Apraxia of Speech:

Name: Childhood Apraxia of Speech 54 60
Speech and Language Disorder with Orofacial Dyspraxia 54 60
Developmental Verbal Dyspraxia 54 60
Cas 54 60
Articulation Disorders, Developmental 74
Developmental Apraxia of Speech 54
Apraxia, Developmental Verbal 74
Developmental Verbal Apraxia 54
Apraxia, Articulatory 74
Articulatory Apraxia 54
Das 54

Characteristics:

Orphanet epidemiological data:

60
childhood apraxia of speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Rare neurological diseases


External Ids:

Orphanet 60 ORPHA209908
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Summaries for Childhood Apraxia of Speech

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NIH Rare Diseases : 54 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 articulation disorder, and has symptoms including aprosodia An important gene associated with Childhood Apraxia of Speech is FOXP2 (Forkhead Box P2). The drug Silver sulfadiazine has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and tongue.

CDC : 3 0 0 0 0

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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 878)
# Related Disease Score Top Affiliating Genes
1 apraxia 31.3 FOXP2 ZGRF1
2 articulation disorder 30.1 CNTNAP2 FOXP2
3 specific language impairment 30.0 CNTNAP2 FOXP2
4 pervasive developmental disorder 29.9 CNTNAP2 FOXP2
5 autism 29.8 CNTNAP2 FOXP2
6 autism spectrum disorder 29.0 CNTNAP2 FOXP2
7 richieri costa da silva syndrome 12.4
8 erythrokeratodermia variabilis et progressiva 1 12.1
9 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.8
10 foxp2-related speech and language disorders 11.7
11 bile duct cancer 11.6
12 pancreatic cancer 11.5
13 gastric cancer 11.5
14 scott syndrome 11.5
15 spinocerebellar ataxia 36 11.4
16 esophageal cancer 11.4
17 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.4
18 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
19 blood group, colton system 11.3
20 endometrial cancer 11.3
21 hepatocellular carcinoma 11.3
22 gallbladder cancer 11.2
23 fallopian tube carcinoma 11.2
24 myotonia with skeletal abnormalities and mental retardation 11.2
25 intellectual disability - hypoplastic corpus callosum - preauricular tag 11.2
26 hypomagnesemia 3, renal 11.2
27 carbonic anhydrase va deficiency 11.1
28 penile cancer 11.1
29 goiter, multinodular, cystic renal disease, and digital anomalies 11.1
30 orthostatic intolerance 11.1
31 daneman davy mancer syndrome 11.1
32 brachyolmia type 3 11.0
33 ichthyosis vulgaris 11.0
34 neonatal stroke 11.0
35 galloway-mowat syndrome 11.0
36 liver angiosarcoma 11.0
37 amyloidosis, hereditary, transthyretin-related 11.0
38 arthrogryposis, distal, type 1a 11.0
39 arthrogryposis, distal, type 5 11.0
40 arthrogryposis, distal, type 2a 11.0
41 acrocallosal syndrome 11.0
42 congenital disorder of glycosylation, type ia 11.0
43 occipital horn syndrome 11.0
44 congenital disorder of glycosylation, type id 11.0
45 arthrogryposis, distal, type 2b1 11.0
46 congenital disorder of glycosylation, type ib 11.0
47 congenital disorder of glycosylation, type ih 11.0
48 congenital disorder of glycosylation, type ik 11.0
49 phosphohydroxylysinuria 11.0
50 palmoplantar keratoderma and congenital alopecia 1 10.9

Graphical network of the top 20 diseases related to Childhood Apraxia of Speech:



Diseases related to Childhood Apraxia of Speech
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Symptoms & Phenotypes for Childhood Apraxia of Speech

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UMLS symptoms related to Childhood Apraxia of Speech:


aprosodia
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Drugs & Therapeutics for Childhood Apraxia of Speech

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Drugs for Childhood Apraxia of Speech (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Not Applicable 22199-08-2 441244

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ASSIST: Treatment for Childhood Apraxia of Speech Recruiting NCT03903120 Phase 1
2 Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program Completed NCT01097161 Not Applicable
3 Treating Childhood Apraxia of Speech Recruiting NCT03238677 Not Applicable
4 Efficacy of an Intervention for the Children With Severe Speech Sounds Disorders Not yet recruiting NCT03700151 Not Applicable

Search NIH Clinical Center for Childhood Apraxia of Speech

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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:

42
Brain, Heart, Tongue, Lung, Liver, Bone, Breast
Sources

Publications for Childhood Apraxia of Speech

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Articles related to Childhood Apraxia of Speech:

(show top 50) (show all 106)
# Title Authors Year
1
Lexical stress in childhood apraxia of speech: acoustic and kinematic findings. ( 30744428 )
2019
2
Interventions for childhood apraxia of speech. ( 29845607 )
2018
3
Comorbid morphological disorder apparent in some children aged 4-5 years with childhood apraxia of speech: findings from standardised testing. ( 30199280 )
2018
4
Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians. ( 30294994 )
2018
5
Parent experiences of variations in service delivery of Rapid Syllable Transition (ReST) treatment for childhood apraxia of speech. ( 28534689 )
2018
6
Parental experiences and perceptions related to childhood apraxia of speech: Focus on functional implications. ( 28786692 )
2018
7
Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech. ( 28933620 )
2018
8
Model-Driven Treatment of Childhood Apraxia of Speech: Positive Effects of the Speech Motor Learning Approach. ( 29222568 )
2018
9
Changes in movement transitions across a practice period in childhood apraxia of speech. ( 29281317 )
2018
10
Poor Speech Perception Is Not a Core Deficit of Childhood Apraxia of Speech: Preliminary Findings. ( 29450502 )
2018
11
Treating Childhood Apraxia of Speech With the Kaufman Speech to Language Protocol: A Phase I Pilot Study. ( 29625432 )
2018
12
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index. ( 28384662 )
2017
13
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: Introduction. ( 28384695 )
2017
14
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
15
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker. ( 28384779 )
2017
16
A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker. ( 28384803 )
2017
17
Speech Inconsistency in Children With Childhood Apraxia of Speech, Language Impairment, and Speech Delay: Depends on the Stimuli. ( 28395359 )
2017
18
Combined clinician-parent delivery of rapid syllable transition (ReST) treatment for childhood apraxia of speech. ( 28443686 )
2017
19
Variable Practice to Enhance Speech Learning in Ultrasound Biofeedback Treatment for Childhood Apraxia of Speech: A Single Case Experimental Study. ( 28715554 )
2017
20
The Effect of Hand Gesture Cues Within the Treatment of /r/ for a College-Aged Adult With Persisting Childhood Apraxia of Speech. ( 29114768 )
2017
21
Childhood apraxia of speech: A survey of praxis and typical speech characteristics. ( 27241138 )
2017
22
Telehealth delivery of Rapid Syllable Transitions (ReST) treatment for childhood apraxia of speech. ( 27161038 )
2016
23
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech. ( 27707700 )
2016
24
Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task. ( 27750297 )
2016
25
Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach. ( 27882295 )
2016
26
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26173965 )
2016
27
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. ( 26763793 )
2016
28
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ( 26833960 )
2016
29
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. ( 27120335 )
2016
30
Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study. ( 24773213 )
2016
31
Differential diagnosis of children with suspected childhood apraxia of speech. ( 25480674 )
2015
32
Treatment intensity and childhood apraxia of speech. ( 25581372 )
2015
33
Reliance on auditory feedback in children with childhood apraxia of speech. ( 25662298 )
2015
34
Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group. ( 25664542 )
2015
35
Cognitive Functions in Childhood Apraxia of Speech. ( 25675214 )
2015
36
Motor functions and adaptive behaviour in children with childhood apraxia of speech. ( 25740430 )
2015
37
A Randomized Controlled Trial for Children With Childhood Apraxia of Speech Comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme-Third Edition. ( 25807891 )
2015
38
Volubility, consonant, and syllable characteristics in infants and toddlers later diagnosed with childhood apraxia of speech: A pilot study. ( 25934424 )
2015
39
Oral Articulatory Control in Childhood Apraxia of Speech. ( 25951237 )
2015
40
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. ( 26097074 )
2015
41
Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children. ( 26552038 )
2015
42
Tools for the assessment of childhood apraxia of speech. ( 26691627 )
2015
43
A systematic review of treatment outcomes for children with childhood apraxia of speech. ( 24686844 )
2014
44
Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention. ( 24694312 )
2014
45
Using randomized variable practice in the treatment of childhood apraxia of speech. ( 25017177 )
2014
46
Rapid Syllable Transitions (ReST) treatment for Childhood Apraxia of Speech: the effect of lower dose-frequency. ( 25052390 )
2014
47
Neurophysiology of speech differences in childhood apraxia of speech. ( 25090016 )
2014
48
Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS). ( 25313348 )
2014
49
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
50
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. ( 23339324 )
2013
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Variations for Childhood Apraxia of Speech

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ClinVar genetic disease variations for Childhood Apraxia of Speech:

6 (show top 50) (show all 232)
# 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.1468+9T> C single nucleotide variant Benign/Likely benign rs75753538 GRCh37 Chromosome 7, 114298331: 114298331
6 FOXP2 NM_014491.3(FOXP2): c.1468+9T> C single nucleotide variant Benign/Likely benign rs75753538 GRCh38 Chromosome 7, 114658276: 114658276
7 FOXP2 NM_014491.3(FOXP2): c.522_524delACA (p.Gln191del) deletion Benign/Likely benign rs398124272 GRCh37 Chromosome 7, 114269985: 114269987
8 FOXP2 NM_014491.3(FOXP2): c.522_524delACA (p.Gln191del) deletion Benign/Likely benign rs398124272 GRCh38 Chromosome 7, 114629930: 114629932
9 FOXP2 NM_014491.3(FOXP2): c.531A> G (p.Gln177=) single nucleotide variant Benign rs111801240 GRCh37 Chromosome 7, 114269994: 114269994
10 FOXP2 NM_014491.3(FOXP2): c.531A> G (p.Gln177=) single nucleotide variant Benign rs111801240 GRCh38 Chromosome 7, 114629939: 114629939
11 FOXP2 NM_014491.3(FOXP2): c.552A> G (p.Gln184=) single nucleotide variant Benign/Likely benign rs146945410 GRCh37 Chromosome 7, 114270015: 114270015
12 FOXP2 NM_014491.3(FOXP2): c.552A> G (p.Gln184=) single nucleotide variant Benign/Likely benign rs146945410 GRCh38 Chromosome 7, 114629960: 114629960
13 FOXP2 NM_014491.3(FOXP2): c.570A> G (p.Gln190=) single nucleotide variant Benign rs61758964 GRCh37 Chromosome 7, 114270033: 114270033
14 FOXP2 NM_014491.3(FOXP2): c.570A> G (p.Gln190=) single nucleotide variant Benign rs61758964 GRCh38 Chromosome 7, 114629978: 114629978
15 FOXP2 NM_014491.3(FOXP2): c.618_620dupGCA (p.Gln209_Leu210insGln) duplication Benign/Likely benign rs111544687 GRCh37 Chromosome 7, 114271603: 114271605
16 FOXP2 NM_014491.3(FOXP2): c.618_620dupGCA (p.Gln209_Leu210insGln) duplication Benign/Likely benign rs111544687 GRCh38 Chromosome 7, 114631548: 114631550
17 FOXP2 NM_014491.3(FOXP2): c.741C> T (p.Gly247=) single nucleotide variant Benign rs61732741 GRCh37 Chromosome 7, 114271726: 114271726
18 FOXP2 NM_014491.3(FOXP2): c.741C> T (p.Gly247=) single nucleotide variant Benign rs61732741 GRCh38 Chromosome 7, 114631671: 114631671
19 FOXP2 NM_014491.3(FOXP2): c.1770-4dupT duplication Conflicting interpretations of pathogenicity rs398005923 GRCh37 Chromosome 7, 114303501: 114303501
20 FOXP2 NM_014491.3(FOXP2): c.1770-4dupT duplication Conflicting interpretations of pathogenicity rs398005923 GRCh38 Chromosome 7, 114663446: 114663446
21 FOXP2 NM_014491.3(FOXP2): c.50A> T (p.Gln17Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201649896 GRCh37 Chromosome 7, 114066616: 114066616
22 FOXP2 NM_014491.3(FOXP2): c.50A> T (p.Gln17Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201649896 GRCh38 Chromosome 7, 114426561: 114426561
23 FOXP2 GRCh37/hg19 7q31.1(chr7: 113925160..113934427)x1 copy number loss Benign GRCh37 Chromosome 7, 113925160: 113934427
24 FOXP2 GRCh37/hg19 7q31.1(chr7: 113925160..113934427)x1 copy number loss Benign GRCh38 Chromosome 7, 114285105: 114294372
25 FOXP2 NM_014491.3(FOXP2): c.1266+8C> T single nucleotide variant Likely benign rs139649711 GRCh37 Chromosome 7, 114294072: 114294072
26 FOXP2 NM_014491.3(FOXP2): c.1266+8C> T single nucleotide variant Likely benign rs139649711 GRCh38 Chromosome 7, 114654017: 114654017
27 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 13, 33833892: 33833897
28 FOXP2 t(7;13)(q31.1;q13.2) Translocation Pathogenic GRCh38 Chromosome 7, 114637586: 114637591
29 IMMP2L; LRRN3 NC_000007.13: g.109049659_111130658del2081000 deletion Pathogenic GRCh37 Chromosome 7, 109049659: 111130658
30 FOXP2 NC_000007.12: g.111781517_120142536del deletion Pathogenic NCBI36 Chromosome 7, 111781517: 120142536
31 FOXP2 7q31.1-q31.2, 6.5 Mb deletion deletion Pathogenic NCBI36 Chromosome 7, 108290244: 114759023
32 FOXP2 7q31.1-q31.3, 14.8 Mb deletion deletion Pathogenic
33 FOXP2 NM_014491.3(FOXP2): c.495_506dup (p.Gln191_His192insGlnGlnGlnGln) duplication Pathogenic rs761316361 GRCh37 Chromosome 7, 114269958: 114269969
34 FOXP2 NM_014491.3(FOXP2): c.495_506dup (p.Gln191_His192insGlnGlnGlnGln) duplication Pathogenic rs761316361 GRCh38 Chromosome 7, 114629903: 114629914
35 FOXP2 NM_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh37 Chromosome 7, 114292331: 114292332
36 FOXP2 NM_014491.3(FOXP2): c.1168_1169delCA (p.Gln390ValfsTer7) deletion Pathogenic rs879253771 GRCh38 Chromosome 7, 114652276: 114652277
37 FOXP2 NM_014491.3(FOXP2): c.1789A> C (p.Asn597His) single nucleotide variant Uncertain significance rs766476648 GRCh37 Chromosome 7, 114303524: 114303524
38 FOXP2 NM_014491.3(FOXP2): c.1789A> C (p.Asn597His) single nucleotide variant Uncertain significance rs766476648 GRCh38 Chromosome 7, 114663469: 114663469
39 FOXP2 t(3;7)(q23;q31.2) Translocation Pathogenic
40 FOXP2 t(5;7)(q22;q31.2) Translocation Pathogenic
41 FOXP2 7q31.1-q31.2, 1.57 Mb deletion deletion Pathogenic
42 FOXP2 7q31.1-q31.2, 9.1 Mb deletion deletion Pathogenic
43 FOXP2 7q31.1-q31.3, 16 Mb deletion deletion Pathogenic
44 FOXP2 7q31.1-q31.3, 11 Mb deletion deletion Pathogenic
45 FOXP2 7q31.1-q31.3, 15 Mb deletion deletion Pathogenic
46 FOXP2 NC_000007.12: g.112946520_114520576del deletion Pathogenic NCBI36 Chromosome 7, 112946520: 114520576
47 FOXP2 7q31.2-q32, 13 Mb deletion deletion Pathogenic
48 FOXP2 7q31.2-q32, 14 Mb deletion deletion Pathogenic
49 FOXP2 7q31.2-q32, 15 Mb deletion deletion Pathogenic
50 FOXP2 7q31.2-q32, 26 Mb deletion deletion Pathogenic
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Expression for Childhood Apraxia of Speech

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

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GO Terms for Childhood Apraxia of Speech

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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
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Sources for Childhood Apraxia of Speech

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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