The Term "Specific Language Impairment Sli"


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The term specific language impairment sli describes a condition affecting childrens communication skills that is neither caused by an organic damage of the brain vocal apparatus and sensory systems nor by a pervasive disorder or another type of mental developmental disability leonard 2014 non-verbal intellectual capacity of the children with sli is never altered in any way. this condition is relatively common around 7 percent of the children in pre-school age are diagnosed with sli tomblin et al. 1997 ethiology of sli is still not fully elucidated. many authors suggest involvement of genetic and environmental causes twin studies have shown that specific language impairment is a condition with a strong genetic basis. bishop 2002 currently numerous molecular genetic studies including gene expression candidate gene association analyses and genome-wide association studies gwas have identified particular genes and chromosomal loci associated with the disease state forkhead box р2 foxp2 and contactin-associated protein 2 cntnap2 on chromosome 7 calcium-transporting atpase 2c2 atp2c2 и c-maf inducing protein cmip on chromosome 16. newbury et al. 2009; slic 2002; pariani et al. 2009; carr et al. 2010; horn et al. 2010; vernes et al. 2009 from another point of view human endogenous retrovirus elements hervs are known to be associated with many neuropathological and non-neurological diseases with complex etiologies such as autism multiple sclerosis schizophrenia different types of cancer.

Hervs have derived from ancient infectious retroviruses which in many particular evolutionary stages had integrated in the genome of the germ-line cells of our ancestors in evolution and started to be conveyed in a vertical fashion trough many generations. at present about 8% of the human genome is occupied by endogenous retrovirus elements consortium hervs are composed of two long terminal repeats ltrs and four genes gag pol pro and env. to date herv expression profiles has never been studied in patients with sli. this study aims to elucidate differentially regulated human endogenous retroelements in peripheral blood of children with sli in comparison with healthy controls through qrt-pcr methodology.participants this study included a group of 25 children with specific language impairment and 25 age- and sex- matched healthy controls. all probands with language disorder were examined by qualified psychiatric specialists. the sli patients met the diagnostic criteria according to diagnostic and statistical manual of mental disorders fourth edition. all participants were bulgarians. none of them had received any medications before blood sampling. ethics statement ethical admissibility of the study design and the informed consent form icf was confirmed by the ethics committee of plovdiv medical university. the university institutional review board approved the use of peripheral blood samples in this study.

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Written informed consents were obtained from the parents of the children in both studied groups: with specific language impairment sli and the typically developing children tdc of the control group. all parents were informed of the aims and the procedures of this study prior to giving their informed consent. personal information was held in strict confidence. blood collection sample storage and rna isolation a total amount of 2.5 ml peripheral blood from each participant sli or healthy was drown directly in a paxgene blood rna monovette preanalytix hombrechtikon switzerland according to the manufacturer protocol. all samples were kept at -20 °c and thawed at room temperature for 8 hours prior to rna extraction. all procedures required for total rna isolation were performed using the paxgene blood mirna kit preanalytix according to the manual purification protocol. rna quantity absorption at 260 nm and purity a260/a280 ratio were measured using epoch micro-volume spectrophotometer system biotek only a260/a280 ratios higher than 1.8 were considered acceptable quantitative reverse-transcription pcr analysis of herv expression an amount of 1 μg total rna from each sample was subjected to dnase i treatment using rq1 rnase-free dnase promega madison wisconsin usa these dnase treated aliquots were then used for cdna synthesis using maxima first strand cdna synthesis kit thermo scientific waltham massachusetts usa and oligo-dt/ random hexamere primers.

Reverse transcription reactions were set as follows: 11 μl of total rna 4 μl 5x reaction mix with the oligo-dt/ random hexamere primers 2 μl maxima enzyme mix and nuclease free water to a final volume of 20 μl. qrt-pcr was performed using maxima sybr green qpcr master mix тнегмо scientific in a 7500 real-time thermal cycler applied biosystems each sample was normalized using the gapdh gene as endogenous control. experiments were performed in duplicates. expression levels of mirnas were obtained by relative quantification according to the 2−δδct method. primer sequences individual cdna samples from sli 25 and healthy controls 25 were analyzed using a relative quantitation qrt-pcr method. all primer pairs used for real-time pcr reactions are summarized in table 1. to date there have been no published data on herv expression in the context of sli condition. this is the first cohort study to our knowledge to announce differences in transcript abundance of specific herv genes in the blood of children with sli compared with a control group. despite the growing evidence of a strong genetic basis for the sli during the last decade the precise genetic mechanisms of sli remain elusive. many authors suggest that sli is a multicausation condition with both genetic and environmental factors involved. snp variants have been studied in several genes of particular importance for sli: kiaa0319 cntnap2 and foxp2.

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