In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (SEMA5A) for 250 Korean trios including children with ASDs. Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p < 0.001, corrected p=0.035). This indicates that genetic variations in the 5' region of SEMA5A play a role in the genetic predisposition to sociality traits in Korean ASDs.
Autism Spectrum Disorder* ; Autistic Disorder* ; Child ; Genetic Predisposition to Disease ; Genetic Variation ; Haplotypes ; Humans ; Promoter Regions, Genetic* ; Semaphorins

OBJECTIVES: The objective of this study was to examine the effects of osmotic-controlled release oral delivery system methylphenidate on changes in regional cerebral blood flow (rCBF) in children with attention-deficit hyperactivity disorder (ADHD) using single photon emission computed tomography (SPECT). METHODS: A total of 26 children with ADHD (21 boys, mean age: 9.2±2.05 years old) were recruited. Each ADHD participant was examined for changes in rCBF using technetium-99m-hexamethylpropylene amine oxime brain SPECT before and after 8 weeks methylphenidate medication. Brain SPECT images of pediatric normal controls were selected retrospectively. SPECT images of ADHD children taken before medication were compared with those of pediatric normal controls and those taken after medication using statistical parametric mapping analysis on a voxel-wise basis. RESULTS: Before methylphenidate medication, significantly decreased rCBF in the cerebellum and increased rCBF in the right precuneus, left anterior cingulate, right postcentral gyrus, right inferior parietal lobule and right precentral gyrus were observed in ADHD children compared to pediatric normal controls (p-value<.0005, uncorrected). After medication, we observed significant hypoperfusion in the left thalamus and left cerebellum compared to pediatric normal controls (p-value<.0005, uncorrected). In the comparison between before medication and after medication, there was significant hyperperfusion in the superior frontal gyrus and middle frontal gyrus and significant hypoperfusion in the right insula, right caudate, right middle frontal gyrus, left subcallosal gyrus, left claustrum, and left superior temporal gyrus after methylphenidate medication (p-value<.0005, uncorrected). CONCLUSION: This study supports dysfunctions of fronto-striatal structures and cerebellum in ADHD. We suggest that methylphenidate may have some effects on the frontal lobe, parietal lobe, and cerebellum in children with ADHD.
Basal Ganglia ; Brain ; Cerebellum ; Child* ; Frontal Lobe ; Humans ; Methylphenidate* ; Parietal Lobe ; Rabeprazole ; Retrospective Studies ; Thalamus ; Tomography, Emission-Computed, Single-Photon

OBJECTIVE: People with attention-deficit/hyperactivity disorder (ADHD) exhibit considerable impairment in social, academic, or occupational functioning. The present study aimed to examine the patterns of associations between ADHD symptoms, depression, and family functioning. METHODS: The sample consisted of 1,022 adults randomly selected from a district in Seoul, South Korea. Several self-assessment scales were utilized to rate ADHD symptoms (both past and current), current symptoms of depression, and level of family functioning. ADHD symptoms in the children of these participants were also assessed. Pearson's correlation and multiple linear regression analyses were performed; structural equation modeling (SEM) was conducted to determine the best fitting model. RESULTS: Adult ADHD symptoms were positively associated with depressive symptoms. Depressive symptoms, in turn, mediated the relationship between adult ADHD symptoms and cohesion among family members. In addition, depressive symptoms mediated the relationship between adult ADHD symptoms and their children's ADHD symptoms. CONCLUSION: The relationship between adult ADHD symptoms and family dysfunction may be influenced by depressive symptoms. When treating ADHD in adults, clinicians should pay attention to the presence or absence of depression.
Adult* ; Child* ; Depression* ; Humans ; Korea ; Linear Models ; Self-Assessment ; Seoul ; Weights and Measures

OBJECTIVES: Dysregulation of the central noradrenergic system may be involved in the pathophysiology of attention-deficit hyperactivity disorder (ADHD). The aim of this study was to examine the differences in pre- and post-treatment cerebral perfusion according to the MspI polymorphisms of the alpha-2A-adrenergic receptor gene (ADRA2A) in children with ADHD. METHODS: Thirty seven drug-naive ADHD children (8.9+1.8 years old, M=32, F=5) were genotyped. Baseline single-photon emission computed tomography (SPECT) and clinical assessments were performed for ADHD children. After treatment with methylphenidate for eight weeks, SPECT and clinical assessment were repeated. RESULTS: No differences in baseline clinical assessments or cerebral perfusion were observed according to the MspI genotype. However, after treatment, ADHD children with the G/G genotype at the MspI polymorphism showed hyperperfusion in the right cerebellar declive (p=.001, uncorrected) and hypoperfusion in the left lentiform nucleus and left cingulate gyrus (p<.001 and p=.001, uncorrected), compared to children without the G/G genotype. CONCLUSION: Although the results of this study should be interpreted cautiously, they suggest a possible role of the MspI polymorphisms of the ADRA2A gene in methylphenidate-induced changes in cerebral perfusion.
Brain ; Child ; Corpus Striatum ; Genotype ; Gyrus Cinguli ; Humans ; Methylphenidate ; Perfusion ; Pharmacogenetics ; Receptors, Adrenergic, alpha-2 ; Tomography, Emission-Computed ; Tomography, Emission-Computed, Single-Photon

OBJECTIVE: The purpose of this study was to investigate the association between the T102C polymorphism in the serotonin 2A receptor gene and attention-deficit/hyperactivity disorder (ADHD) in Korean patients. METHODS: A total of 189 Korean children with ADHD as well as both parents of the ADHD children and 150 normal children participated in this study. DNA was extracted from blood samples from all of the subjects, and genotyping was conducted. Based on the allele and genotype information obtained, case-control analyses were performed to compare the ADHD and normal children, and Transmission disequilibrium tests (TDTs) were used for family-based association testing (number of trios=113). Finally, according to the significant finding which was showed in the case-control analyses, the results of behavioral characterastics and neuropsychological test were compared between ADHD children with and without the C allele. RESULTS: In the case-control analyses, statistically significant differences were detected in the frequencies of genotypes containing the C allele (chi2=4.73, p=0.030). In the family-based association study, TDTs failed to detect linkage disequilibrium of the T102C polymorphism associated with ADHD children. In the ADHD children, both the mean reaction time and the standard deviation of the reaction time in the auditory continuous performance test were longer in the group with the C allele compared to the group without the C allele. CONCLUSION: The results of this study suggest that there is a significant genetic association between the T102C polymorphism in the serotonin 2A receptor gene and ADHD in Korean children.
Alleles ; Case-Control Studies ; Child ; DNA ; Genotype ; Humans ; Linkage Disequilibrium ; Neuropsychological Tests ; Parents ; Reaction Time ; Receptor, Serotonin, 5-HT2A ; Serotonin

OBJECTIVE: The present study investigated whether teacher ratings and parent ratings of inattentive or hyperactive/impulsive symptoms were differently associated with intelligence or cognitive performance in Korean children. METHODS: Six hundred sixty-seven children were recruited from nine schools in five Korean cities. The teachers and parents of 580 of these children (9.0+/-0.7 years old, 333 boys and 306 girls) completed the Korean version of the Attention-Deficit/Hyperactivity Disorder Rating Scales (K-ARS), and the children performed the abbreviated form of the Korean Educational Development Institute-Wechsler Intelligence Scales (KEDI-WISC) and a neurocognitive battery consisting of the continuous performance test, the Children's Color Trails Test, and the Stroop Color-Word Test. Diagnosis of full-syndrome and subthreshold attention-deficit/hyperactivity disorder (ADHD) were based on the Diagnostic Interview Schedule for Children Version-IV (DISC-IV). RESULTS: The level of agreement between teacher and parent ratings was low (r=0.21-0.26) in children with full-syndrome and subthreshold ADHD and low to moderate (r=0.31-0.41) in the normative sample. Teacher-rated ARS showed significant correlations with most sub-scores of KEDI-WISC and the neurocognitive battery both in the normative sample (r=-0.50-0.37) and in children with full-syndrome and subthreshold ADHD (r=-0.26-0.29). Correlations between parent-rated ARS and cognitive tests were lower and were found in fewer subscales of tests. CONCLUSION: These results suggest the importance of considering the teacher's report of a child's school functioning during the assessment of ADHD.
Appointments and Schedules ; Child ; Cognition ; Humans ; Intelligence ; Parents ; Weights and Measures

OBJECTIVES: The aim of this study was to examine the association of the ADRA2A MspI and DraI polymorphisms with methylphenidate (MPH) response in Korean children with ADHD. METHODS: The present study included 112 children and adolescents with ADHD (mean age=9.1+/-2.1 years), consisting of 92 boys (82.1%) and 20 girls (17.9%). ADHD was diagnosed based on the DSM-IV criteria using the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL). For the clinical evaluation of the ADHD subjects, the ADHD Rating Scale-IV (ADHD-RS) and Clinical Global Impression (CGI) were administered at baseline and 8 weeks after MPH treatment. ADRA2A MspI and DraI polymorphisms were genotyped. The chi2 test was used to evaluate the relationship between the ADRA2A genotype and the response to MPH. The correlation between the genotype of ADRA2A and the change in the ADHD-RS scores after MPH treatment was assessed using the analysis of variance test and t-test. The significance level was set at p=0.01. RESULTS: No significant association was found between the genotypes of the ADRA2A MspI or DraI polymorphisms and MPH treatment response according to the CGI-improvement score (p>0.05). Comparing the changes in ARS scores after MPH treatment according to the genotypes of the MspI or DraI polymorphisms, we found no significant differences between subjects with different genotypes (p>0.05). CONCLUSION: Our results do not support the significant association between the MspI genotype and MPH response in Korean ADHD subjects, which was previously reported. In addition, we document no evidence of association between the DraI polymorphism and MPH treatment response in the Korean ADHD population.
Adolescent ; Attention Deficit Disorder with Hyperactivity ; Child ; Diagnostic and Statistical Manual of Mental Disorders ; Genotype ; Humans ; Methylphenidate ; Mood Disorders ; Phenazines

OBJECTIVE: Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. METHODS: Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. RESULTS: We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. CONCLUSION: Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.
Autistic Disorder ; Child ; Autism Spectrum Disorder ; Chromosomes, Human, Pair 11 ; Endophenotypes ; Genome-Wide Association Study ; Humans ; Language Development Disorders ; Multifactor Dimensionality Reduction ; Parents ; Polymorphism, Single Nucleotide

OBJECTIVES: This study was conducted to examine the prevalence and characteristics of savant skills and the relationship between the savant skills and autistic symptoms in Korean ASD children. METHODS: 141 ASD subjects participated in this study and they were divided in to two groups based on the presence or lack of savant skills. The domain scores and total scores of the K-ADI-R, K-ASDS and SRS were used for evaluating the ASD symptoms between the groups. RESULTS: Memory (n=47) was the most prevalent savant skill in the savant ASD group (n=60). The savant ASD group had a statistically higher mean age and IQ score than did the nonsavant ASD group. Despite their high IQ profile, the savant ASD group showed a higher restricted, repetitive and stereotype behavior score on the K-ADI-R and higher language and cognitive scores on the K-ASDS than did the nonsavant ASD group. CONCLUSIONS: These results suggest savant syndrome in ASD might be related to the severity of some subdomain of autistic symptoms even though their IQ scores were higher than nonsavant ASD patients.
Autistic Disorder ; Child ; Autism Spectrum Disorder ; Humans ; Memory ; Prevalence

OBJECTIVE: Attention-deficit/hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder with a strong genetic component. Brain-derived neurotrophic factor (BDNF), which participates in the differentiation and survival of dopaminergic and noradrenergic neurons, could play a role in ADHD development. We aimed to explore the relationships between ADHD and BDNF gene polymorphism. METHODS: We conducted a case-control analysis of 202 ADHD subjects and 159 controls, performed a transmission disequilibrium test on 151 trios, and compared the results of a continuous performance test (CPT) according to the genotype of the three single nucleotide polymorphisms (rs11030101, rs6265, rs16917204) in the BDNF gene. RESULTS: In the case-control analysis, the AA genotype of the BDNF rs11030101 polymorphism was significantly associated with ADHD only in girls (p=0.024, odds ratio=3.00). The T-G-G haplotype was significantly less frequent (p=0.005) and A-G-G was more frequent (p=0.048) in girls with ADHD than in control girls (global p=0.027). A multivariate analysis of variance for commission errors on the CPT showed a significant main effect for the rs11030101 genotype (p=0.026) and an interaction effect of the rs11030101 genotype and gender (p=0.032) in ADHD probands. CONCLUSION: These results provide preliminary evidence for a gender-specific association between BDNF and ADHD in the Korean population.
Adrenergic Neurons ; Brain-Derived Neurotrophic Factor ; Case-Control Studies ; Genotype ; Haplotypes ; Multivariate Analysis ; Polymorphism, Single Nucleotide