Do Executive Dysfunction, Delay Aversion, and Time Perception Deficit Predict ADHD Symptoms and Early Academic Performance in Preschoolers.

Children with attention deficit/hyperactivity disorder (ADHD) are commonly observed to have learning difficulties. This study examined how three neuropsychological constructs-executive dysfunction, delay aversion, and time perception-were associated with ADHD symptoms and early academic performance in preschoolers at risk of ADHD. One hundred and thirty-one preschoolers (70 boys, 53%) aged 4 to 6 (M = 5.31 years) were assessed on their ADHD-related behaviors, neuropsychological functioning, word reading, and math abilities at two time points one year apart. Factor analysis indicated that inhibitory and attentional control deficit, delay aversion, and time perception/working memory deficit were three dissociable factors. Among the three factors, inhibitory and attentional control measured at Time 1 was the strongest predictor of ADHD symptoms at both Time 1 and Time 2. Time perception was closely related to working memory, and they predicted word reading and numeration across time most strongly among other neuropsychological constructs. Our findings suggested that inhibitory and attentional control, delay aversion, and time perception are dissociable neuropsychological deficits underlying ADHD symptoms in preschoolers. Poor time perception may serve as a marker for the early identification of preschoolers with potential learning problems, and a possible target of intervention for ADHD.

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing. However, c.1960G>C was reported to be non-pathogenic. Furthermore, correlations between genotypes and phenotypes of Chinese Han patients since 2014 were performed by paired χ2 -tests in our published work review, which has not been reported. The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. Genetically, they had a higher frequency of familial inheritance.

Increased expression of IL-28RA mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a systemic autoimmune and inflammatory disease with a strong genetic contribution and characterized by kinds of immune reactions. Our previous genome-wide association studies have identified IL-28RA as a susceptibility gene for SLE. In this study, we performed a quantitative reverse transcription polymerase chain reaction (RT-PCR) in 62 patients with SLE and 69 controls to investigate the different expression levels of IL-28RA in peripheral blood mononuclear cells (PBMCs) from SLE patients and healthy controls and the association between IL-28RA expression and systemic lupus erythematosus disease activity index (SLEDAI) or the variant of the single-nucleotide polymorphism (SNP) rs4649203. The expression levels of IL-28RA messenger RNA (mRNA) in SLE patients were significantly increased compared with those of healthy controls. In addition, there were also significant differences in the expression levels of IL-28RA between active (SLEDAI ≥ 6) or inactive (SLEDAI < 6) SLE groups and healthy controls. However, no correlation was observed between IL-28RA mRNA expression level and SLEDAI. There was no association between the variant of the SNP rs4649203 and IL-28RA mRNA expression levels neither. These results indicated that expression of IL-28RA mRNA may be correlated with the pathogenesis of SLE.

Association analyses confirm five susceptibility loci for systemic lupus erythematosus in the Han Chinese population.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Currently, numerous genetic loci of SLE have been confirmed. Here we try to further explore additional genes contributing to SLE susceptibility in this study. METHODS: Forty nine single nucleotide polymorphisms (SNPs) with moderate-risk for SLE in previous study were genotyped in a large-scale replication study with a total of 3,522 cases and 8,252 controls using the Sequenom Massarray system. Association analyses were performed using logistic regression with gender or sample cohorts as a covariate through PLINK 1.07 software. RESULTS: This replication effort confirmed five reported SLE susceptibility loci reaching genome-wide levels of significance (P(meta) <5.00 × 10(-08)): TNFSF4 (rs1418190, odds ratio (OR) = 0.81, P(meta) = 1.08 × 10(-08); rs4916219, OR = 0.80, P(meta )= 7.77 × 10(-09)), IRF8 (rs2934498, OR = 1.25, P(meta) = 4.97 × 10(-09)), miR-146a (rs2431697, OR = 0.69, P(meta) = 1.15 × 10(-22)), CD44 (rs2732547, OR = 0.82, P(meta) = 1.55 × 10(-11)), and TMEM39A (rs12494314, OR = 0.84, P(meta) = 1.01 × 10(-09)). Further logistic regression analysis indicated that the genetic effects within TNFSF4 detected in this study are independent from our previously reported signals. CONCLUSIONS: This study increases the number of established susceptibility loci for SLE in Han Chinese population and highlights the contribution of multiple variants of modest effect. Although further studies will be required to identify the causal alleles within these loci, the findings make a significant step forward in our understanding of the genetic contribution to SLE in Chinese population.