Preferred Label : Speech-language disorder 1;
Symbol : SPCH1;
CISMeF acronym : CAS; DVD; SPCH1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Speech and language disorder with orofacial dyspraxia; DVD; CAS; Childhood apraxia of speech; Developmental verbal dyspraxia;
Description : 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, 1991). The phenotype, however, is broader in
nature, with virtually every aspect of grammar and language affected (Fisher et al.,
1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by
abnormal development of several brain areas critical for both orofacial movements
and sequential articulation, resulting in marked disruption of speech and expressive
language. - Relation to Specific Language Impairment Children who fail to develop
expressive and/or receptive language normally, in the absence of explanatory factors
such as neurologic disorders, hearing impairment, or lack of adequate opportunity,
are clinically described as having specific language impairment (SLI) (Bartlett et
al., 2002). SLI has a prevalence of approximately 2% (Fisher et al., 1998) to 7% (Bartlett
et al., 2002) in children entering school and is associated with later difficulties
in learning to read. SLI aggregates in families, and increased monozygotic versus
dizygotic twin concordance rates indicate that heredity, not just shared environment,
is the cause of familial clustering (summary by Bartlett et al., 2002). The majority
of families segregating such disorders show complex patterns of inheritance (Fisher
et al., 1998). Quantitative trait loci (QTLs) involved in specific language impairment,
a phenotype that shows some overlap with SPCH1, have been mapped to chromosomes 16q
(SLI1; 606711), 19q (SLI2; 606712), 13q21 (SLI3; 607134), and 7q35-q36 (SLI4; 612514).
See also familial developmental dysphasia (600117).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the forkhead box P2 gene (FOXP2, 605317.0001);
Prefixed ID : #602081;
Origin ID : 602081;
UMLS CUI : C0750927;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
