scholarly journals Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment

2020 ◽  
Vol 63 (12) ◽  
pp. 4046-4061
Author(s):  
Erin M. Andres ◽  
Kathleen Kelsey Earnest ◽  
Shelley D. Smith ◽  
Mabel L. Rice ◽  
Muhammad Hashim Raza
Keyword(s):  
Linkage Analysis ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Suggestive Linkage ◽  
Lod Score ◽  
Specific Language ◽  
Parametric Linkage Analysis ◽  
Genome Wide ◽  
Age Appropriate ◽  
Language Measure

Purpose Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method We performed genome-wide parametric linkage analysis in six families segregating with SLI. An age-appropriate standardized omnibus language measure was used to categorically define the SLI phenotype. Results A suggestive linkage region replicated a previous region of interest with the highest logarithm of odds (LOD) score of 2.40 at 14q11.2-q13.3 in Family 489. A paternal parent-of-origin effect associated with SLI and language phenotypes on a nonsynonymous single nucleotide polymorphism (SNP) in NOP9 (14q12) was reported previously. Linkage analysis identified a new SLI locus at 15q24.3-25.3 with the highest parametric LOD score of 3.06 in Family 315 under a recessive mode of inheritance. Suggestive evidence of linkage was also revealed at 4q31.23-q35.2 in Family 300, with the highest LOD score of 2.41. Genetic linkage was not identified in the other three families included in parametric linkage analysis. Conclusions These results are the first to report genome-wide suggestive linkage with a total language standard score on an age-appropriate omnibus language measure across a wide age range. Our findings confirm previous reports of a language-associated locus on chromosome 14q, report new SLI loci, and validate the pedigree-based parametric linkage analysis approach to mapping genes for SLI. Supplemental Material https://doi.org/10.23641/asha.13203218

scholarly journals Genome-Wide Studies of Specific Language Impairment

2014 ◽  
Vol 1 (4) ◽  
pp. 242-250 ◽  
Author(s):  
Rose H. Reader ◽  
Laura E. Covill ◽  
Ron Nudel ◽  
Dianne F. Newbury
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Specific Language ◽  
Genome Wide

scholarly journals Genome-wide analysis identifies a role for common copy number variants in specific language impairment

2015 ◽  
Vol 23 (10) ◽  
pp. 1370-1377 ◽  
Author(s):  
Nuala H Simpson ◽  
◽  
Fabiola Ceroni ◽  
Rose H Reader ◽  
Laura E Covill ◽  
...  
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Copy Number ◽  
Copy Number Variants ◽  
Specific Language ◽  
Genome Wide Analysis ◽  
Genome Wide

Semantic Representation and Naming in Children With Specific Language Impairment

2002 ◽  
Vol 45 (5) ◽  
pp. 998-1014 ◽  
Author(s):  
Karla K. McGregor ◽  
Robyn M. Newman ◽  
Renée M. Reilly ◽  
Nina C. Capone
Keyword(s):  
Task Performance ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Semantic Representation ◽  
Recognition Task ◽  
Semantic Knowledge ◽  
Retrieval Failure ◽  
Specific Language ◽  
Age Appropriate ◽  
Naming Tasks

When 16 children with SLI (mean age=6;2) and 16 normally developing age-mates named age-appropriate objects, the SLI cohort made more naming errors. For both cohorts, semantic misnaming and indeterminate responses were the predominant error types. The contribution of limited semantic representation to these naming errors was explored. Each participant drew and defined each item from his or her semantic and indeterminate error pools and each item from his or her correctly named pool. When compared, the drawings and definitions of items from the error pools were poorer, suggesting limited semantic knowledge. The profiles of information included in definitions of items from the correct pool and the error pools were highly similar, suggesting that representations associated with misnaming differed quantitatively, but not qualitatively, from those associated with correct naming. Eleven members of the SLI cohort also participated in a forced-choice recognition task. Performance was significantly lower on erroneous targets than on correctly named targets. When performance was compared across all three post-naming tasks (drawing, defining, recognition), the participants evinced sparse semantic knowledge for roughly half of all semantic misnaming and roughly one third of all indeterminate responses. In additional cases, representational gaps were evident. This study demonstrates that the degree of knowledge represented in the child's semantic lexicon makes words more or less vulnerable to retrieval failure and that limited semantic knowledge contributes to the frequent naming errors of children with SLI.

scholarly journals A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)

2019 ◽  
Vol 27 (8) ◽  
pp. 1274-1285 ◽  
Author(s):  
Erin M. Andres ◽  
Huma Hafeez ◽  
Adnan Yousaf ◽  
Sheikh Riazuddin ◽  
Mabel L. Rice ◽  
...  
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Specific Language ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome ◽  
Chromosomal Loci

Eliciting Verbs From Children With Specific Language Impairment

1996 ◽  
Vol 5 (4) ◽  
pp. 17-30 ◽  
Author(s):  
Diane Frome Loeb ◽  
Clifton Pye ◽  
Sean Redmond ◽  
Lori Zobel Richardson
Keyword(s):  
Young Children ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Syntactic Complexity ◽  
Specific Language ◽  
Lexical Skills

The focus of assessment and intervention is often aimed at increasing the lexical skills of young children with language impairment. Frequently, the use of nouns is the center of the lexical assessment. As a result, the production of verbs is not fully evaluated or integrated into treatment in a way that accounts for their semantic and syntactic complexity. This paper presents a probe for eliciting verbs from children, describes its effectiveness, and discusses the utility of and problems associated with developing such a probe.

Deficits in Explicit Language Problem Solving Rather Than in Implicit Learning in Specific Language Impairment: Evidence From Learning an Artificial Morphological Rule

2019 ◽  
Vol 62 (10) ◽  
pp. 3790-3807 ◽  
Author(s):  
Sara Ferman ◽  
Liat Kishon-Rabin ◽  
Hila Ganot-Budaga ◽  
Avi Karni
Keyword(s):  
Language Learning ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Explicit Knowledge ◽  
Procedural Memory ◽  
Procedural Learning ◽  
Specific Language ◽  
Language Problems ◽  
Morphological Rule ◽  
Semantic Distinction

Purpose The purpose of this study was to delineate differences between children with specific language impairment (SLI), typical age–matched (TAM) children, and typical younger (TY) children in learning and mastering an undisclosed artificial morphological rule (AMR) through exposure and usage. Method Twenty-six participants (eight 10-year-old children with SLI, 8 TAM children, and ten 8-year-old TY children) were trained to master an AMR across multiple training sessions. The AMR required a phonological transformation of verbs depending on a semantic distinction: whether the preceding noun was animate or inanimate. All participants practiced the application of the AMR to repeated and new (generalization) items, via judgment and production tasks. Results The children with SLI derived significantly less benefit from practice than their peers in learning most aspects of the AMR, even exhibiting smaller gains compared to the TY group in some aspects. Children with SLI benefited less than TAM and even TY children from training to judge and produce repeated items of the AMR. Nevertheless, despite a significant disadvantage in baseline performance, the rate at which they mastered the task-specific phonological regularities was as robust as that of their peers. On the other hand, like 8-year-olds, only half of the SLI group succeeded in uncovering the nature of the AMR and, consequently, in generalizing it to new items. Conclusions Children with SLI were able to learn language aspects that rely on implicit, procedural learning, but experienced difficulties in learning aspects that relied on the explicit uncovering of the semantic principle of the AMR. The results suggest that some of the difficulties experienced by children with SLI when learning a complex language regularity cannot be accounted for by a broad, language-related, procedural memory disability. Rather, a deficit—perhaps a developmental delay in the ability to recruit and solve language problems and establish explicit knowledge regarding a language task—can better explain their difficulties in language learning.

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