Childhood apraxia of speech

General Information (adopted from Orphanet):

Synonyms, Signs: CHILDHOOD APRAXIA OF SPEECH
CAS
SPCH1
DVD
Speech-language disorder type 1
developmental verbal dyspraxia
speech and language disorder with orofacial dyspraxia
Number of Symptoms 18
OrphanetNr: 209908
OMIM Id: 602081
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Specific language disorder
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000271) Abnormality of the face 108 / 7739
2
(HPO:0002546) Incomprehensible speech 2 / 7739
3
(HPO:0007301) Oromotor apraxia 1 / 7739
4
(HPO:0000750) Delayed speech and language development 197 / 7739
5
(OMIM) Brain imaging shows functional defects in the cortical and subcortical motor-related areas of the frontal lobe 1 / 7739
6
(OMIM) Phonology deficits 1 / 7739
7
(OMIM) Inability to generate syntactic grammar rules (i.e., tense, gender, number) 1 / 7739
8
(OMIM) Impaired processing of language 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Defect in morphosyntactic rules 1 / 7739
11
(OMIM) No other neurologic disorder 1 / 7739
12
(OMIM) Decreased nonverbal IQ 1 / 7739
13
(OMIM) Articulation defects 2 / 7739
14
(OMIM) Impaired expression of language 1 / 7739
15
(OMIM) Orofacial dyspraxia, linguistic and nonlinguistic 1 / 7739
16
(HPO:0002134) Abnormality of the basal ganglia 13 / 7739
17
(OMIM) Discrepancy between verbal and nonverbal abilities 1 / 7739
18
(OMIM) Structural abnormalities in the basal ganglia (especially caudate) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, ...
Clinical Description OMIM Hurst et al. (1990) reported a family, identified as 'KE,' in which 16 members spanning 3 generations had a severe developmental verbal dyspraxia with normal hearing and intelligence. Inheritance was autosomal dominant. Vargha-Khadem et al. (1995) restudied the ...
Molecular genetics OMIM Lai et al. (2001) demonstrated that the FOXP2 gene, which encodes a putative transcription factor containing a polyglutamine tract and forkhead DNA-binding domain, is directly disrupted in the translocation breakpoint in patient CS (unrelated to the family KE). ...