Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population

OBJECTIVE: To evaluate the association of GRIK2 and NLGN1 with autism spectrum disorder in a Chinese population. METHODS: We performed spatio-temporal expression analysis of GRIK2 and NLGN1 in the developing prefrontal cortex, and examined the expression of the genes in ASD cases and healthy controls using the GSE38322 data set. Following, we performed a case-control study in a Chinese population. RESULTS: The analysis using the publicly available expression data showed that GRIK2 and NLGN1 may have a role in the development of human brain and contribute to the risk of ASD. Later genetic analysis in the Chinese population showed that the GRIK2 rs6922753 for the T allele, TC genotype and dominant model played a significant protective role in ASD susceptibility (respectively: OR=0.840, p=0.023; OR=0.802, p=0.038; OR=0.791, p=0.020). The NLGN1 rs9855544 for the G allele and GG genotype played a significant protective role in ASD susceptibility (respectively: OR=0.844, p=0.019; OR=0.717, p=0.022). After adjusting p values, the statistical significance was lost (p>0.05). CONCLUSION: Our results suggested that GRIK2 rs6922753 and NLGN1 rs9855544 might not confer susceptibility to ASD in the Chinese population.

Changes of regional cerebral blood oxygenation in recognizing Chinese characters in children with Chinese dyslexia / 中国组织工程研究

BACKGROUND: Dyslexia is the most common in the study of learning disabilities, it can affect various aspects of children, including behaviors,cognition, emotion, social adaptation, etc., and seriously block their obtaining of knowledge and improvement of ability in children.OBJECTIVE: To study the changing law of regional cerebral blood oxygenation in children with Chinese dyslexia in the process of recognizing Chinese characters, and investigate the neurophysiological basis of dyslexia in children.DESIGN: A case-control study.SETTING: Department of Child and Adolescent Health and Maternal Care, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology.PARTICIPANTS: The study was carried out in Huazhong University of Science and Technology from June to September in 2003. Forty-five primary students of 8 to 12 years old, who were grade 3 to 5 in Wuhan city,were enrolled in this study, including 26 dyslexic children (dyslexia group)and 19 normal readers (control group). All the enrolled children were righthanded. Informed consents were obtained from all the participants and their parents (guardians) after explanation of aims and steps of this study.METHODS: The functional near-infrared imager (fNIRI) was applied to detect the changes of cerebral blood oxygenation in left prefrontal lobe of dyslexic children and normal children in the primary processing (viewing passively, reading aloud, producing an action word) and secondary processing of Chinese characters (outputting task, action words association) of Chinese characters.MAIN OUTCOME MEASURES: The changes of cerebral blood oxygenation in the primary processing and secondary processing of Chinese characters were observed in both groups.RESULTS: All the 26 children with Chinese dyslexia and 19 normal children were involved in the analysis of results. ① Changes of the contents of blood oxygenation in the primary processing of Chinese characters:When viewing the Chinese characters passively, the contents of blood oxygenation on channel A, B and C were all higher in the dyslexia group than in the control group (0.378 0, 0.134 6; 0.085 8, 0.051 9; 0.109 3, 0.069 2;P ＜ 0.05); there was no obvious difference on channel D between the two groups (P ＞ 0.05). When reading aloud, the contents of blood oxygenation on channel A, B, C and D were all unobviously higher in the dyslexia group than in the control group (P ＞ 0.05). In the process of generating action words, the contents of blood oxygenation on channels A and C were all higher in the dyslexia group than in the control group (0.411 2, 0.139 7;0.141 3, 0.078 4; P ＜ 0.05), and there were no obvious differences on channels B and D between the two groups (P ＞ 0.05). ② Changes of the contents of blood oxygenation in the secondary processing of Chinese characters: In the process of outputting task, the changes of blood oxygenation was lower in the dyslexia group than in the control group (-0.025 7, 0.089 0,F=16.25, P ＜ 0.01); In the process of action words association, the changes of blood oxygenation was obviously higher in the dyslexia group than in the control group (0.073 0, -0.072 1, F=15.59, P ＜ 0.01).CONCLUSION: The cortexes of left prefrontal lobe in dyslexic children are activated in the process of recognizing Chinese characters, but the degree and pattern of activation are different from those of normal children.The functional abnormalities of specific brain area may be the biological basis of Chinese dyslexia.Song RR, Wu HR.Changes of regional cerebral blood oxygenation in recognizing Chinese characters in children with Chinese dyslexia.

The fNIRI Study on Regional Cerebral Blood Oxygenation Changes during Cognition Tasks of Chinese Dyslexic Children / 中国临床心理学杂志

Objective:To investigate the regional cerebral blood oxygenation changes of left prefrontal lobe during dyslexic children recognizing Chinese characters. Methods:We use functional near-infrared imaging (fNIRI) technique to observe 28 dyslexic elementary school students and 19 healthy students who are not reading-impaired.Results:With fNIRI, significant activations were observed in the left prefrontal cortex of both dyslexic children and non-dyslexic children during primary processing of Chinese characters, and children with dyslexia were evoked more significantly ( P