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1.

Speech apraxia

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [from HPO]

MedGen UID:
506438
Concept ID:
CN116829
Finding
2.

Apraxia

A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. [from HPO]

MedGen UID:
505148
Concept ID:
CN001982
Finding
3.

Speech-language disorder 1

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). [from OMIM]

MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
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