scholarly journals Genome‐wide association analyses of child genotype effects and parent‐of‐origin effects in specific language impairment

2014 ◽  
Vol 13 (4) ◽  
pp. 418-429 ◽  
Author(s):  
R. Nudel ◽  
N. H. Simpson ◽  
G. Baird ◽  
A. O'Hare ◽  
G. Conti‐Ramsden ◽  
...  
2020 ◽  
Vol 63 (12) ◽  
pp. 4046-4061
Author(s):  
Erin M. Andres ◽  
Kathleen Kelsey Earnest ◽  
Shelley D. Smith ◽  
Mabel L. Rice ◽  
Muhammad Hashim Raza

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


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

2015 ◽  
Vol 23 (10) ◽  
pp. 1370-1377 ◽  
Author(s):  
Nuala H Simpson ◽  
◽  
Fabiola Ceroni ◽  
Rose H Reader ◽  
Laura E Covill ◽  
...  

2019 ◽  
Vol 27 (8) ◽  
pp. 1274-1285 ◽  
Author(s):  
Erin M. Andres ◽  
Huma Hafeez ◽  
Adnan Yousaf ◽  
Sheikh Riazuddin ◽  
Mabel L. Rice ◽  
...  

Medicine ◽  
2018 ◽  
Vol 97 (9) ◽  
pp. e0043 ◽  
Author(s):  
Xin Liu ◽  
Xiumei Hong ◽  
Hui-Ju Tsai ◽  
Karen K. Mestan ◽  
Min Shi ◽  
...  

1996 ◽  
Vol 5 (4) ◽  
pp. 17-30 ◽  
Author(s):  
Diane Frome Loeb ◽  
Clifton Pye ◽  
Sean Redmond ◽  
Lori Zobel Richardson

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.


2019 ◽  
Vol 62 (10) ◽  
pp. 3790-3807 ◽  
Author(s):  
Sara Ferman ◽  
Liat Kishon-Rabin ◽  
Hila Ganot-Budaga ◽  
Avi Karni

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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