OBJECTIVE: Oxytocin (OT) has been implicated to play an important role in autism spectrum disorders (ASD) etiology. We aimed to find out the differences in plasma OT levels between children with autism and healthy children, the associations of OT levels with particular autism symptoms and the associations of particular parental autistic traits with their ASD children OT levels. METHODS: We included 19 boys with autism and 44 healthy age-matched boys. OT levels were analyzed by ELISA method. Children with autism were scored by Childhood Autism Rating Scale and Autism Diagnostic Interview (ADI), adjusted research version. Autism Spectrum Quotient (AQ), Systemizing Quotient (SQ) and Empathizing Quotient were completed by parents of children with autism. RESULTS: Children with autism had significantly lower plasma OT levels than controls. OT levels positively correlated with ADI Reciprocal Interaction and Communication scores. AQ and SQ of fathers positively correlated with children plasma OT level. CONCLUSION: Our results support the hypothesis of OT deficiency in autism. The "paradoxical" associations of OT levels and social skills in children with autism indicate disturbances at various levels of OT system. We first reported associations of OT levels in children with autism and behavioral measures in fathers indicating that OT abnormalities stay between parental autistic traits and autism symptoms in their children.
Autistic Disorder* ; Child Development Disorders, Pervasive ; Child* ; Enzyme-Linked Immunosorbent Assay ; Fathers ; Humans ; Oxytocin* ; Parents* ; Plasma*

OBJECTIVES: In children and adolescents, the prevalence of overweight has increased in the last 20 years. little research is available on the prevalence of obesity in children with autism spectrum disorders(ASD). The purpose of our study was to determine the prevalence of overweight among a clinical population of children diagnosed with autism spectrum disorders(ASD). METHODS: Retrospective chart review of children ages 3-18 years seen between 2012 and 2015 at a Konyang University hospital psychiatric clinic. Diagnostic, medical, and demographic information was extracted from the charts. Body mass index(BMI) was calculated from measures of height and weight recorded in the child's chart. The Center for Disease Control's BMI growth reference was used to determine an age and gender-specific BMI z-score for the children. RESULTS: In our study, children with ASD compared to non ASD group had significantly higher BMI percentiles (p=0.032). The prevalence of overweight(BMI≥85th to 95th percentiles) and obesity(BMI≥95th percentiles) was 35% and 19% respectively in children with ASD and without ASD. CONCLUSION: Despite noted limitations, our data suggest that overweight and obesity in children with ASD are more prevalent than without ASD. Longitudinal and further study is needed to examine the factors associated with obesity in this population.
Adolescent* ; Autistic Disorder* ; Child Development Disorders, Pervasive* ; Child* ; Humans ; Obesity* ; Overweight* ; Prevalence ; Retrospective Studies*

PURPOSE: We aimed to determine whether Autism Spectrum Disorder (ASD) would show neural abnormality of the social reward system using functional MRI (fMRI). MATERIALS AND METHODS: 27 ASDs and 12 typically developing controls (TDCs) participated in this study. The social reward task was developed, and all participants performed the task during fMRI scanning. RESULTS: ASDs and TDCs with a social reward learning effect were selected on the basis of behavior data. We found significant differences in brain activation between the ASDs and TDCs showing a social reward learning effect. Compared with the TDCs, the ASDs showed reduced activity in the right dorsolateral prefrontal cortex, right orbitofrontal cortex, right parietal lobe, and occipital lobe; however, they showed increased activity in the right parahippocampal gyrus and superior temporal gyrus. CONCLUSION: These findings suggest that there might be neural abnormality of the social reward learning system of ASDs. Although this study has several potential limitations, it presents novel findings in the different neural mechanisms of social reward learning in children with ASD and a possible useful biomarker of high-functioning ASDs.
Brain/*physiopathology ; Brain Mapping ; Case-Control Studies ; Child ; Child Development Disorders, Pervasive/*physiopathology ; Female ; Functional Neuroimaging/*methods ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Neural Pathways/*physiopathology ; Psychiatric Status Rating Scales ; Republic of Korea ; *Reward ; *Social Behavior

OBJECTIVETo examine serum 25-hydroxyvitamin D levels in children with autism spectrum disorders (ASD) and to explore the relationship between vitamin D level and ASD.

METHODSSerum levels of 25-hydroxyvitamin D levels were determined by the HPLC-MS/MS method in 117 children with newly diagnosed ASD and 109 healthy controls. Vitamin D status were classified into normal (>30 ng/mL), insufficiency (10-30ng/mL) and deficiency (<10 ng/mL) according to 25-hydroxyvitamin D levels.

RESULTSSerum level of 25-hydroxyvitamin D (19±9 ng/mL)in children with ASD was significantly lower than that in healthy controls (36±13 ng/mL; P<0.01). The rate of vitamin D insufficiency plus deficiency in the ASD group was significantly higher than in the control group (89.7% vs 52.3%; P<0.01).

CONCLUSIONSVitamin D insufficiency or deficiency is common in children with ASD and might be as one of the environmental or genetic factors for ASD.

Child ; Child Development Disorders, Pervasive ; blood ; Child, Preschool ; Chromatography, High Pressure Liquid ; Female ; Humans ; Infant ; Male ; Vitamin D ; analogs & derivatives ; blood ; Vitamin D Deficiency ; epidemiology

During the central nervous system (CNS) development, the interactions between intrinsic genes and extrinsic environment ensure that each neuronal developmental stage (eg. neuronal proliferation, differentiation, migration, axon extension, dendritogenesis and formation of functional synapses) occurs in the proper timing and sequence. The successful coordination requires that numerous groups of genes are exquisitely regulated in a spatiotemporal manner by various regulatory mechanisms, including sequence-specific DNA-binding proteins, histone modifications, DNA methylation, chromatin remodeling, and microRNAs (miRNAs). By targeting chromatin structure, transcription and translation processes, these mechanisms form a regulatory network to accomplish the fine regulation of gene expression in response to environmental stimuli at different developmental stages. Dysregulation of the gene expression during neuronal development has been shown to be implicated in a number of neurodevelopmental disorders, such as autism spectrum disorders (ASD), Rett syndrome (RTT), Fragile-X syndrome (FXS) and other genetic diseases. The further understanding of the regulation of gene expression during neuronal development may provide new approaches for the diagnosis and treatment of these disorders.
Cell Differentiation ; Child Development Disorders, Pervasive ; genetics ; DNA Methylation ; DNA-Binding Proteins ; Gene Expression Regulation, Developmental ; Heredodegenerative Disorders, Nervous System ; genetics ; Humans ; MicroRNAs ; Neurons ; pathology ; Synapses

BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population. METHODS: We performed CMA and multiplex ligation-dependent probe amplification (MLPA) tests in 96 patients with normal karyotype and unexplained DD, MR, or ASD. The CMA was conducted with CytoScan 750K array (Affymetrix, USA) with an average resolution of 100 kb. RESULTS: Pathogenic copy number variations (CNVs) were detected in 15 patients by CMA and in two patients by MLPA for four known microdeletion syndromes (Prader-Willi/Angelman syndrome, DiGeorge syndrome, Miller-Dieker syndrome and Williams syndrome) designated by National Health Insurance system in Korea. The diagnostic yield was 15.6% and 2.1%, respectively. Thirteen (13.5%) patients (excluding cases with pathogenic CNVs) had variants of uncertain clinical significance. There was one patient with a 17.1-megabase (Mb) region of homozygosity on chromosome 4q. CONCLUSIONS: Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea.
Child ; Child Development Disorders, Pervasive ; Classical Lissencephalies and Subcortical Band Heterotopias ; Diagnostic Tests, Routine ; DiGeorge Syndrome ; Genetic Testing ; Humans ; Intellectual Disability ; Karyotype ; Korea ; Microarray Analysis* ; Multiplex Polymerase Chain Reaction ; National Health Programs

PURPOSE: It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. MATERIALS AND METHODS: The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chi-square test and linear-by-linear association was used for analysis. RESULTS: Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. CONCLUSION: These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection of ASD.
Child Development Disorders, Pervasive/*complications ; Child, Preschool ; Developmental Disabilities/*complications ; Early Diagnosis ; Female ; Humans ; Infant ; *Language ; *Language Development ; Language Development Disorders/complications/*diagnosis ; Language Tests ; Male ; Republic of Korea

Autism spectrum disorders (ASD) are a group of neuro-developmental disorders in early childhood which are defined by social difficulties, communication deficits and repetitive or restrictive interests and behaviours. The etiology of ASD remains poorly understood. Much research has shown that children with ASD suffer from immunological dysfunction. This article reviews the current research progress on immunological dysfunction in children with ASD, including abnormalities in immune cells, antibodies, complements, cytokines, major histocompatibility complex and their potential association with ASD, and explores the impacts of maternal immunological activation on the immune dysfunction of children with ASD.
Autoantibodies ; blood ; Child ; Child Development Disorders, Pervasive ; etiology ; immunology ; Cytokines ; physiology ; Humans ; Immunoglobulins ; blood ; Lymphocytes ; immunology

OBJECTIVEThe aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18-36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children and the predictability of each individual symptom.

METHODSA total of 8 000 children were screened to do a questionnaire based on CHAT modified to include more early signs of autism at the age of 18-36 months. Then the at-risk children were reexamined 1.5 years later and ASD children were identified based on DSM-IV. Early signs of autism were analyzed retrospectively by using discriminant function analysis performed among ASD children, children not followed up and children followed up but failing to meet ASD criteria.

RESULTSThree hundred and sixty seven children were screened as being at-risk to ASD, and 22 of them were identified as having ASD in the subsequent diagnosis. The prevalence of ASD was 27.5 per 10 000 in Tianjin of China with a male to female ratio of 4:1. Items addressing social interactions and communications had higher predictability than other items to distinguish autistic children from non-autistic ones. Pretend play, functional play, showing and reading parents' facial expressions distinguished autistic children from those not followed up, nevertheless those followed up but failing to meet ASD criteria were not included.

CONCLUSIONThe prevalence of ASD found in our study was lower than that reported in some studies by western researchers. Autism has its specific symptoms, such as deficits in social awareness, social relatedness, and social referencing.

Child Development ; Child Development Disorders, Pervasive ; epidemiology ; psychology ; Child, Preschool ; China ; epidemiology ; Early Diagnosis ; Female ; Humans ; Infant ; Male

Autistic traits including social reciprocal deficits, communication deficits and stereotyped behaviors, are manifested not only in patients with autism spectrum disorders (ASD) and their families, but also in general population. In recent years, there has much research related to autistic traits. This article summarizes research advance of autistic traits in ASD relations and general population.
Child Development Disorders, Pervasive ; diagnosis ; Humans ; Magnetic Resonance Imaging ; Phenotype ; Severity of Illness Index ; Surveys and Questionnaires