CAS
MCID: CHL109
MIFTS: 44

Childhood Apraxia of Speech (CAS)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood Apraxia of Speech

MalaCards integrated aliases for Childhood Apraxia of Speech:

Name: Childhood Apraxia of Speech 52 58
Speech and Language Disorder with Orofacial Dyspraxia 52 58
Developmental Verbal Dyspraxia 52 58
Cas 52 58
Articulation Disorders, Developmental 71
Developmental Apraxia of Speech 52
Apraxia, Developmental Verbal 71
Developmental Verbal Apraxia 52
Apraxia, Articulatory 71
Articulatory Apraxia 52
Das 52

Characteristics:

Orphanet epidemiological data:

58
childhood apraxia of speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA209908
UMLS 71 C0236828 C0750927 C3495144

Summaries for Childhood Apraxia of Speech

NIH Rare Diseases : 52 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 speech 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, tongue and caudate nucleus, and related phenotypes are specific learning disability and dysarthria

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 1720)
# Related Disease Score Top Affiliating Genes
1 apraxia 31.5 FOXP2 CNTNAP2
2 speech disorder 30.9 FOXP2 CNTNAP2
3 specific language impairment 30.2 FOXP2 CNTNAP2
4 speech and communication disorders 30.1 FOXP2 CNTNAP2
5 articulation disorder 29.9 FOXP2 CNTNAP2
6 stuttering 29.9 FOXP2 CNTNAP2
7 benign epilepsy with centrotemporal spikes 29.9 FOXP2 CNTNAP2
8 dyslexia 29.7 FOXP2 CNTNAP2
9 pervasive developmental disorder 29.3 FOXP2 CNTNAP2
10 learning disability 28.9 FOXP2 CNTNAP2
11 autism spectrum disorder 28.4 FOXP2 ERC1 CNTNAP2
12 richieri costa da silva syndrome 12.5
13 erythrokeratodermia variabilis et progressiva 1 12.2
14 palmoplantar keratoderma and congenital alopecia 1 12.0
15 palmoplantar keratoderma and congenital alopecia 2 12.0
16 bile duct cancer 11.9
17 pancreatic cancer 11.7
18 intellectual disability - hypoplastic corpus callosum - preauricular tag 11.7
19 scott syndrome 11.6
20 gastric cancer 11.6
21 arthrogryposis, distal, type 1a 11.6
22 distal arthrogryposis 11.6
23 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
24 esophageal cancer 11.5
25 spinocerebellar ataxia 36 11.5
26 brody myopathy 11.5
27 liver angiosarcoma 11.5
28 endometrial cancer 11.4
29 patent ductus arteriosus 1 11.4
30 hepatocellular carcinoma 11.4
31 gallbladder cancer 11.4
32 cervix uteri carcinoma in situ 11.4
33 skin carcinoma 11.4
34 fallopian tube carcinoma 11.4
35 bone cancer 11.4
36 ascending colon cancer 11.4
37 goiter, multinodular, cystic renal disease, and digital anomalies 11.3
38 myotonia with skeletal abnormalities and mental retardation 11.3
39 dicarboxylic aminoaciduria 11.3
40 hypomagnesemia 3, renal 11.3
41 carbonic anhydrase va deficiency 11.3
42 penile cancer 11.2
43 brachyolmia type 3 11.2
44 amyloidosis, hereditary, transthyretin-related 11.1
45 arthrogryposis, distal, type 5 11.1
46 arthrogryposis, distal, type 2a 11.1
47 acrocallosal syndrome 11.1
48 congenital disorder of glycosylation, type ia 11.1
49 46,xy sex reversal 11 11.1
50 congenital disorder of glycosylation, type id 11.1

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

Human phenotypes related to Childhood Apraxia of Speech:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
4 expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0002474
5 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
6 incomprehensible speech 58 31 frequent (33%) Frequent (79-30%) HP:0002546
7 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
8 grammar-specific speech disorder 58 31 frequent (33%) Frequent (79-30%) HP:0006977
9 abnormal speech prosody 58 31 frequent (33%) Frequent (79-30%) HP:0031434
10 receptive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0010863
11 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
12 delayed social development 58 31 occasional (7.5%) Occasional (29-5%) HP:0012434
13 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
14 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
15 poor gross motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007015
16 high, narrow palate 58 31 very rare (1%) Very rare (<4-1%) HP:0002705
17 overfolded helix 58 31 very rare (1%) Very rare (<4-1%) HP:0000396
18 submucous cleft hard palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000176
19 autistic behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000729
20 horizontal eyebrow 58 31 very rare (1%) Very rare (<4-1%) HP:0011228
21 delayed speech and language development 58 Very frequent (99-80%)
22 neurological speech impairment 58 Very frequent (99-80%)
23 abnormal caudate nucleus morphology 58 Occasional (29-5%)

UMLS symptoms related to Childhood Apraxia of Speech:


aprosodia

Drugs & Therapeutics for Childhood Apraxia of Speech

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 22199-08-2 441244

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ASSIST: Child Apraxia Speech Treatment Recruiting NCT03903120 Phase 1
2 Treating Childhood Apraxia of Speech: Role of Biofeedback & Practice Distribution Recruiting NCT03238677
3 Efficacy of an Intervention for the Children With Severe Speech Sounds Disorders Recruiting NCT03700151

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:

40
Brain, Tongue, Caudate Nucleus, Cortex, Testes

Publications for Childhood Apraxia of Speech

Articles related to Childhood Apraxia of Speech:

(show top 50) (show all 186)
# Title Authors PMID Year
1
FOXP2-Related Speech and Language Disorders 61 6
27336128 2016
2
The DISC1 promoter: characterization and regulation by FOXP2. 6
22434823 2012
3
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. 6
20858596 2010
4
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. 6
15877281 2005
5
A forkhead-domain gene is mutated in a severe speech and language disorder. 6
11586359 2001
6
An extended family with a dominantly inherited speech disorder. 6
2332125 1990
7
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 61
31949314 2020
8
The Applicability of the Clinical Features of English Childhood Apraxia of Speech to Cantonese: A Modified Delphi Survey. 61
32097033 2020
9
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. 61
32345733 2020
10
Look at Mummy: challenges in training parents to deliver a home treatment program for childhood apraxia of speech in a rural Canadian community. 61
32343906 2020
11
Lexical stress in childhood apraxia of speech: acoustic and kinematic findings. 61
30744428 2020
12
Dynamic Temporal and Tactile Cueing: A Treatment Strategy for Childhood Apraxia of Speech. 61
31846588 2020
13
Protocol for the Connected Speech Transcription of Children with Speech Disorders: An Example from Childhood Apraxia of Speech. 61
31269497 2020
14
Re-Evaluating Evidence for Best Practice in Paediatric Speech-Language Pathology. 61
31940655 2020
15
Use of Transcription when Assessing Children's Speech: Australian Speech-Language Pathologists' Practices, Challenges, and Facilitators. 61
31597152 2020
16
Speech, language, and feeding phenotypes of SATB2-associated syndrome. 61
31392730 2019
17
Speech characteristics of childhood apraxia of speech: A survey research. 61
31374387 2019
18
Reading Outcomes for Individuals With Histories of Suspected Childhood Apraxia of Speech. 61
31419159 2019
19
A Survey of Clinicians With Specialization in Childhood Apraxia of Speech. 61
31487474 2019
20
A retrospective video analysis of canonical babbling and volubility in infants later diagnosed with childhood apraxia of speech. 61
31661338 2019
21
Motor Performance in Children With Childhood Apraxia of Speech and Speech Sound Disorders. 61
31479382 2019
22
Bang for Your Buck: A Single-Case Experimental Design Study of Practice Amount and Distribution in Treatment for Childhood Apraxia of Speech. 61
31425660 2019
23
Assessment of Childhood Apraxia of Speech: A Review/Tutorial of Objective Measurement Techniques. 61
31465704 2019
24
Vowel Duration Discrimination of Children With Childhood Apraxia of Speech: A Preliminary Study. 61
31306605 2019
25
Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects. 61
30949922 2019
26
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 61
29463886 2019
27
Clinical management of childhood apraxia of speech: A survey of speech-language pathologists in Australia and New Zealand. 61
31122069 2019
28
Volubility, Consonant Emergence, and Syllabic Structure in Infants and Toddlers Later Diagnosed With Childhood Apraxia of Speech, Speech Sound Disorder, and Typical Development: A Retrospective Video Analysis. 61
31181171 2019
29
Dorsal language stream anomalies in an inherited speech disorder. 61
30796815 2019
30
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16. 61
30836598 2019
31
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome. 61
30515510 2019
32
Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders. 61
31221012 2019
33
Speech and motor speech disorders and intelligibility in adolescents with Down syndrome. 61
31221010 2019
34
Estimates of the prevalence of speech and motor speech disorders in adolescents with Down syndrome. 61
31221009 2019
35
Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech. 61
31330526 2019
36
Comorbid morphological disorder apparent in some children aged 4-5 years with childhood apraxia of speech: findings from standardised testing. 61
30199280 2019
37
Initial studies of the phenotype and persistence of speech motor delay (SMD). 61
31221011 2019
38
Estimates of the prevalence of motor speech disorders in children with idiopathic speech delay. 61
30987467 2019
39
A frequent acoustic sign of speech motor delay (SMD). 61
30945568 2019
40
Foxp2 loss of function increases striatal direct pathway inhibition via increased GABA release. 61
30187194 2018
41
Combined clinician-parent delivery of rapid syllable transition (ReST) treatment for childhood apraxia of speech. 61
28443686 2018
42
Language Skill Mediates the Relationship Between Language Load and Articulatory Variability in Children With Language and Speech Sound Disorders. 61
30515517 2018
43
Speech-driven mobile games for speech therapy: User experiences and feasibility. 61
30301384 2018
44
Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians. 61
30294994 2018
45
Parental experiences and perceptions related to childhood apraxia of speech: Focus on functional implications. 61
28786692 2018
46
Parent experiences of variations in service delivery of Rapid Syllable Transition (ReST) treatment for childhood apraxia of speech. 61
28534689 2018
47
Treating Childhood Apraxia of Speech With the Kaufman Speech to Language Protocol: A Phase I Pilot Study. 61
29625432 2018
48
Heritability and longitudinal outcomes of spelling skills in individuals with histories of early speech and language disorders. 61
30555216 2018
49
Interventions for childhood apraxia of speech. 61
29845607 2018
50
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. 61
29445122 2018

Variations for Childhood Apraxia of Speech

ClinVar genetic disease variations for Childhood Apraxia of Speech:

6 (show top 50) (show all 156) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXP2 NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)SNV Pathogenic 617625 rs1178491246 7:114298280-114298280 7:114658225-114658225
2 FOXP2 NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter)SNV Pathogenic 807606 7:114270016-114270016 7:114629961-114629961
3 FOXP2 NM_014491.4(FOXP2):c.1658G>A (p.Arg553His)SNV Pathogenic 5067 rs121908377 7:114302130-114302130 7:114662075-114662075
4 FOXP2 NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter)SNV Pathogenic 5068 rs121908378 7:114282671-114282671 7:114642616-114642616
5 FOXP2 t(3;7)(q23;q31.2)Translocation Pathogenic 242953
6 FOXP2 t(5;7)(q22;q31.2)Translocation Pathogenic 242954
7 FOXP2 t(7;13)(q31.1;q13.2)Translocation Pathogenic 242955 13:33833892-33833897
8 IMMP2L , LRRN3 NC_000007.13:g.109049659_111130658deldeletion Pathogenic 242956 7:109049659-111130658
9 FOXP2 NC_000007.12:g.111781517_120142536deldeletion Pathogenic 242957
10 FOXP2 7q31.1-q31.2, 6.5 Mb deletiondeletion Pathogenic 242958
11 FOXP2 7q31.1-q31.3, 14.8 Mb deletiondeletion Pathogenic 242959
12 FOXP2 7q31.1-q31.2, 1.57 Mb deletiondeletion Pathogenic 242960
13 FOXP2 7q31.1-q31.2, 9.1 Mb deletiondeletion Pathogenic 242961
14 FOXP2 7q31.1-q31.3, 16 Mb deletiondeletion Pathogenic 242962
15 FOXP2 7q31.1-q31.3, 11 Mb deletiondeletion Pathogenic 242963
16 FOXP2 7q31.1-q31.3, 15 Mb deletiondeletion Pathogenic 242964
17 FOXP2 NC_000007.12:g.112946520_114520576deldeletion Pathogenic 242965
18 FOXP2 7q31.2-q32, 13 Mb deletiondeletion Pathogenic 242966
19 FOXP2 7q31.2-q32, 14 Mb deletiondeletion Pathogenic 242967
20 FOXP2 7q31.2-q32, 15 Mb deletiondeletion Pathogenic 242968
21 FOXP2 7q31.2-q32, 26 Mb deletiondeletion Pathogenic 242969
22 FOXP2 7q22-q31.3 deletion (15 Mb)deletion Pathogenic 242970
23 FOXP2 7q22-q31.33, 22 Mb deletiondeletion Pathogenic 242971
24 subset of 508 genes: AUTS2 , CAMK2B , ELN , FOXP2 , GLI3 , SEMA3A , SGCE , TBX20 , TRRAP NC_000007.13:g.(20954043_21001537)_(114528369_114556605)invinversion Pathogenic 242972 7:20954043-114556605
25 FOXP2 Uniparental disomy of chromosome 7complex Pathogenic 242973
26 FOXP2 NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His)SNV Pathogenic 242975 rs879253772 7:114299672-114299672 7:114659617-114659617
27 FOXP2 NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs)deletion Pathogenic 242949 rs879253771 7:114292330-114292331 7:114652275-114652276
28 FOXP2 NM_014491.4(FOXP2):c.1769+2T>CSNV Likely pathogenic 431153 rs1135401820 7:114302243-114302243 7:114662188-114662188
29 ZGRF1 NM_018392.4(ZGRF1):c.4087G>A (p.Glu1363Lys)SNV Likely pathogenic 617843 rs76187047 4:113506711-113506711 4:112585555-112585555
30 ZGRF1 NM_018392.4(ZGRF1):c.142C>A (p.Leu48Met)SNV Likely pathogenic 617844 rs61745597 4:113544993-113544993 4:112623837-112623837
31 FOXP2 NM_014491.4(FOXP2):c.1770-4dupduplication Conflicting interpretations of pathogenicity 167099 rs398005923 7:114303491-114303492 7:114663436-114663437
32 FOXP2 NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)SNV Conflicting interpretations of pathogenicity 195296 rs201649896 7:114066616-114066616 7:114426561-114426561
33 FOXP2 NM_014491.4(FOXP2):c.1789A>C (p.Asn597His)SNV Uncertain significance 242952 rs766476648 7:114303524-114303524 7:114663469-114663469
34 FOXP2 NM_014491.4(FOXP2):c.*1826G>ASNV Uncertain significance 358639 rs771404418 7:114331807-114331807 7:114691752-114691752
35 FOXP2 NM_014491.4(FOXP2):c.-335A>GSNV Uncertain significance 358595 rs531957198 7:114055091-114055091 7:114415036-114415036
36 FOXP2 NM_014491.4(FOXP2):c.-16G>ASNV Uncertain significance 358600 rs886061914 7:114055410-114055410 7:114415355-114415355
37 FOXP2 NM_014491.4(FOXP2):c.199C>G (p.Gln67Glu)SNV Uncertain significance 358603 rs759949520 7:114174702-114174702 7:114534647-114534647
38 CDH18 NM_004934.5(CDH18):c.991T>C (p.Leu331=)SNV Uncertain significance 617842 rs17285716 5:19591174-19591174 5:19591065-19591065
39 FOXP2 NM_014491.4(FOXP2):c.774A>G (p.Gln258=)SNV Uncertain significance 619976 rs1563047535 7:114271759-114271759 7:114631704-114631704
40 FOXP2 NM_014491.4(FOXP2):c.-290A>CSNV Uncertain significance 910570 7:114055136-114055136 7:114415081-114415081
41 FOXP2 NM_014491.4(FOXP2):c.124T>C (p.Ser42Pro)SNV Uncertain significance 911804 7:114066690-114066690 7:114426635-114426635
42 FOXP2 NM_014491.4(FOXP2):c.165G>A (p.Gln55=)SNV Uncertain significance 911805 7:114066731-114066731 7:114426676-114426676
43 FOXP2 NM_014491.4(FOXP2):c.447G>C (p.Gln149His)SNV Uncertain significance 911807 7:114269910-114269910 7:114629855-114629855
44 FOXP2 NM_014491.4(FOXP2):c.*107A>GSNV Uncertain significance 911850 7:114330088-114330088 7:114690033-114690033
45 FOXP2 NM_014491.4(FOXP2):c.892T>G (p.Ser298Ala)SNV Uncertain significance 908850 7:114282581-114282581 7:114642526-114642526
46 FOXP2 NM_014491.4(FOXP2):c.1344C>T (p.Thr448=)SNV Uncertain significance 909704 7:114298198-114298198 7:114658143-114658143
47 FOXP2 NM_014491.4(FOXP2):c.*2922T>GSNV Uncertain significance 908975 7:114332903-114332903 7:114692848-114692848
48 FOXP2 NM_014491.4(FOXP2):c.*3414G>CSNV Uncertain significance 909846 7:114333395-114333395 7:114693340-114693340
49 FOXP2 NM_014491.4(FOXP2):c.258+13C>GSNV Uncertain significance 911806 7:114174774-114174774 7:114534719-114534719
50 FOXP2 NM_014491.4(FOXP2):c.989+6T>ASNV Uncertain significance 909703 7:114282684-114282684 7:114642629-114642629

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 FOXP2 CNTNAP2
2 vocal learning GO:0042297 8.62 FOXP2 CNTNAP2

Sources for Childhood Apraxia of Speech

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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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