Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance.

With the increasing number of sequencing projects involving families, quality control tools optimized for family genome sequencing are needed. However, accurately quantifying contamination in a DNA mixture is particularly difficult when genetically related family members are the sources. We developed TrioMix, a maximum likelihood estimation (MLE) framework based on Mendel's law of inheritance, to quantify DNA mixture between family members in genome sequencing data of parent-offspring trios. TrioMix can accurately deconvolute any intrafamilial DNA contamination, including parent-offspring, sibling-sibling, parent-parent, and even multiple familial sources. In addition, TrioMix can be applied to detect genomic abnormalities that deviate from Mendelian inheritance patterns, such as uniparental disomy (UPD) and chimerism. A genome-wide depth and variant allele frequency plot generated by TrioMix facilitates tracing the origin of Mendelian inheritance deviations. We showed that TrioMix could accurately deconvolute genomes in both simulated and real data sets.

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

AIM: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes. METHODS: We analyzed WGS data of 634 ASD families and performed genome-wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD-associated STR loci. RESULTS: In ASD cases, rare STR expansions predominantly occurred in early cortical layer-specific genes involved in neurodevelopment, highlighting the cellular specificity of STR-associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD-associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non-carriers. CONCLUSION: Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.

Disparity in the dental care of children and adolescents with autism spectrum disorder in Korea: a national population-based cross-sectional study.

Individuals with autism spectrum disorders (ASD) have difficulty accessing dental care. We aim to verify whether individuals with ASD are properly managed by checking the frequency of dental visits, cost and severity of dental treatment compared with those without ASD. This cross-sectional study used the Korean Health Insurance Database to analyze the frequency, cost and severity of dental treatment in 209,780 people under the age of 19 with or without ASD in 2020. The average frequency of dental visits for individuals without ASD was 2.98 times, which was significantly higher (p < 0.001) than the 2.89 times for those with ASD. However, the average dental cost for individuals with ASD was USD 132.63, which was significantly higher (p < 0.001) than USD 116.57 for those without ASD. Additionally, the average number of times that individuals without ASD received severe dental treatment was 1.23 times, significantly higher than the 1.15 times for those with ASD. Further, per 10,000 people, we found that trauma treatment was recorded for an average of 21.90 individuals with ASD, significantly higher than the 7.75 recorded for those without ASD (p < 0.001). Individuals with ASD encounter significant disparities in accessing dental care, as evidenced by their relatively infrequent dental visits. This discrepancy can be attributed to various barriers including the financial burden compared with those without ASD.

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD). We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions. Non-coding DNMs in chromatin interactions were significantly involved in transcriptional dysregulations related to ASD risk. Correspondingly, target genes showed spatiotemporal expressions relevant to ASD in developing brains and enrichment in biological pathways implicated in ASD, such as histone modification. Regarding clinical features of ASD, non-coding DNMs in chromatin interactions particularly contributed to low intelligence quotient levels in ASD probands. We further validated our findings using two replication cohorts, Simons Simplex Collection (SSC) and MSSNG, and showed the consistent enrichment of non-coding DNM-disrupted chromatin interactions in ASD probands. Generating human induced pluripotent stem cells in two ASD families, we were able to demonstrate that non-coding DNMs in chromatin interactions alter the expression of target genes at the stage of early neural development. Taken together, our findings indicate that non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.

Perceived barriers to psychiatric help-seeking in South Korea by age groups: text mining analyses of social media big data.

BACKGROUND: The psychiatric treatment gap is substantial in Korea, implying barriers in seeking help. OBJECTIVES: This study aims to explore barriers of seeing psychiatrists, expressed on the internet by age groups. METHODS: A corpus of data was garnered extensively from internet communities, blogs and social network services from 1 January 2016 to 31 July 2019. Among the texts collected, texts containing words linked to psychiatry were selected. Then the corpus was dismantled into words by using natural language processing. Words linked to barriers to seeking help were identified and classified. Then the words from web communities that we were able to identify the age groups were additionally organized by age groups. RESULTS: 97,730,360 articles were identified and 6,097,369 were included in the analysis. Words implying the barriers were selected and classified into four groups of structural discrimination, public prejudice, low accessibility, and adverse drug effects. Structural discrimination was the greatest barrier occupying 34%, followed by public prejudice (27.8%), adverse drug effects (18.6%), and cost/low accessibility (16.1%). In the analysis by age groups, structural discrimination caused teenagers (51%), job seekers (64%) and mothers with children (43%) the most concern. In contrast, the public prejudice (49%) was the greatest barriers in the senior group. CONCLUSIONS: Although structural discrimination may most contribute to barriers to visiting psychiatrists in Korea, variation by generations may exist. Along with the general attempt to tackle the discrimination, customized approach might be needed.

Development and pilot implementation of an activity-based emotional support intervention for caregivers of children with cancer.

OBJECTIVE: This study aimed to pilot PAX ("Play, Act & Interact"), an activity-based emotional support intervention for caregivers of child with cancer, which focuses on addressing their psychological distress and post-traumatic stress symptoms (PTSSs). METHOD: Sixteen mothers whose children were child with cancer participated in this 4-week intervention. Their children (n = 16; 14 males; median age at diagnosis = 10.3 years; the median amount of time from diagnosis = 9 months) were at different treatment stages for a range of different diagnoses. Caregivers completed self-report instruments assessing their psychological distress including PTSSs and family functioning before and after the intervention and a brief open-response exit survey. Paired sample t-tests were computed to compare the pre-and post-intervention scores. RESULTS: The Post-traumatic Stress Disorder Checklist scores significantly decreased from pre- (M = 37.00, SD = 14.75) to post-intervention (M = 32.56, SD = 15.52), t(15) = 4.25, p < .001. There was also a significant difference between pre- (M = 33.5, SD = 3.18) and post-intervention (M = 35.7, SD = 3.14) scores on the Family Adherence subscale of the Family Adaptability and Cohesion Evaluation Scales III, t(15) = -2.58, p = .02. CONCLUSIONS: PAX was a promising intervention for supporting caregivers' PTSSs and family adaptability. Future studies investigating the long-term effects and replicating the current study with more participants and a control group are needed.

End-to-End Model-Based Detection of Infants with Autism Spectrum Disorder Using a Pretrained Model.

In this paper, we propose an end-to-end (E2E) neural network model to detect autism spectrum disorder (ASD) from children's voices without explicitly extracting the deterministic features. In order to obtain the decisions for discriminating between the voices of children with ASD and those with typical development (TD), we combined two different feature-extraction models and a bidirectional long short-term memory (BLSTM)-based classifier to obtain the ASD/TD classification in the form of probability. We realized one of the feature extractors as the bottleneck feature from an autoencoder using the extended version of the Geneva minimalistic acoustic parameter set (eGeMAPS) input. The other feature extractor is the context vector from a pretrained wav2vec2.0-based model directly applied to the waveform input. In addition, we optimized the E2E models in two different ways: (1) fine-tuning and (2) joint optimization. To evaluate the performance of the proposed E2E models, we prepared two datasets from video recordings of ASD diagnoses collected between 2016 and 2018 at Seoul National University Bundang Hospital (SNUBH), and between 2019 and 2021 at a Living Lab. According to the experimental results, the proposed wav2vec2.0-based E2E model with joint optimization achieved significant improvements in the accuracy and unweighted average recall, from 64.74% to 71.66% and from 65.04% to 70.81%, respectively, compared with a conventional model using autoencoder-based BLSTM and the deterministic features of the eGeMAPS.

Short-term exposure to air pollution and hospital admission for pneumonia: a systematic review and meta-analysis.

BACKGROUND: Air pollution is a major issue that poses a health threat worldwide. Although several studies investigated the adverse effects of air pollution on various diseases, few have directly demonstrated the effects on pneumonia. Therefore, we performed a systematic review and meta-analysis on the associations between short-term exposure of air pollutants and hospital admission or emergency room (ER) visit for pneumonia. METHODS: A literature search was performed using PubMed, Embase, and Web of Science up to April 10, 2020. Pooled estimates were calculated as % increase with 95% confidence intervals using a random-effects model. A sensitivity analysis using the leave-one-out method and subgroup analysis by region were performed. RESULTS: A total of 21 studies were included in the analysis. Every 10 µg/m3 increment in PM2.5 and PM10 resulted in a 1.0% (95% CI: 0.5-1.5) and 0.4% (95% CI: 0.2-0.6) increase in hospital admission or ER visit for pneumonia, respectively. Every 1 ppm increase of CO and 10 ppb increase of NO2, SO2, and O3 was associated with 4.2% (95% CI: 0.6-7.9), 3.2% (95% CI: 1.3-5.1), 2.4% (95% CI: - 2.0-7.1), and 0.4% (95% CI: 0-0.8) increase in pneumonia-specific hospital admission or ER visit, respectively. Except for CO, the sensitivity analyses yielded similar results, demonstrating the robustness of the results. In a subgroup analysis by region, PM2.5 increased hospital admission or ER visit for pneumonia in East Asia but not in North America. CONCLUSION: By combining the inconsistent findings of several studies, this study revealed the associations between short-term exposure of air pollutants and pneumonia-specific hospital admission or ER visit, especially for PM and NO2. Based on the results, stricter intervention policies regarding air pollution and programs for protecting human respiratory health should be implemented.

Deep-Learning-Based Detection of Infants with Autism Spectrum Disorder Using Auto-Encoder Feature Representation.

Autism spectrum disorder (ASD) is a developmental disorder with a life-span disability. While diagnostic instruments have been developed and qualified based on the accuracy of the discrimination of children with ASD from typical development (TD) children, the stability of such procedures can be disrupted by limitations pertaining to time expenses and the subjectivity of clinicians. Consequently, automated diagnostic methods have been developed for acquiring objective measures of autism, and in various fields of research, vocal characteristics have not only been reported as distinctive characteristics by clinicians, but have also shown promising performance in several studies utilizing deep learning models based on the automated discrimination of children with ASD from children with TD. However, difficulties still exist in terms of the characteristics of the data, the complexity of the analysis, and the lack of arranged data caused by the low accessibility for diagnosis and the need to secure anonymity. In order to address these issues, we introduce a pre-trained feature extraction auto-encoder model and a joint optimization scheme, which can achieve robustness for widely distributed and unrefined data using a deep-learning-based method for the detection of autism that utilizes various models. By adopting this auto-encoder-based feature extraction and joint optimization in the extended version of the Geneva minimalistic acoustic parameter set (eGeMAPS) speech feature data set, we acquire improved performance in the detection of ASD in infants compared to the raw data set.

The effect of an immersive virtual reality tour of the operating theater on emergence delirium in children undergoing general anesthesia: A randomized controlled trial.

BACKGROUND AND AIMS: An immersive virtual reality tour of the operating theater could reduce preoperative anxiety. This study was designed to determine whether a preoperative immersive virtual reality tour demonstrates a reduction in emergence delirium through reducing the preoperative anxiety in children undergoing general anesthesia. METHODS: Eighty-six children were randomly allocated into either the control or virtual reality group. The control group received conventional education regarding the perioperative process. The virtual reality group watched a 4-minute virtual reality video showing the operating theater and explaining the perioperative process. Incidence and severity of emergence delirium were the main outcomes. Secondary outcomes included preoperative anxiety using modified Yale Preoperative Anxiety Scale and postoperative behavioral disturbance. RESULTS: Eighty children completed the final analysis (control group = 39, virtual reality group = 41). The incidence (risk ratio [95% CI]: 1.1 [0.5-2.8], P = 0.773) and severity of emergence delirium (mean difference [95% CI]: -0.2 [-2.7 to 2.2], P = 0.791) were similar in the two groups. After the intervention, children in the virtual reality group had a significantly lower modified Yale Preoperative Anxiety score than those in the control group (mean difference [95% CI]: 9.2 [0.3-18.2], P = 0.022). No difference was observed regarding postoperative behavioral disturbance between the two groups at postoperative 1 day (mean difference [95% CI]: -0.1 [-0.3 to 0.1], P = 0.671) and 14 day (mean difference [95% CI]: -0.0 [-0.1 to 0.0], P = 0.329). CONCLUSION: Preoperative immersive virtual reality tour of the operating theater did not reduce the incidence and severity of emergence delirium, although it was effective in alleviating preoperative anxiety in children.

Re-adjusting the cut-off score of the Korean version of the Childhood Autism Rating Scale for high-functioning individuals with autism spectrum disorder.

AIM: The current cut-off score of the Korean version of the Childhood Autism Rating Scale (K-CARS) does not seem to be sensitive enough to precisely diagnose high-functioning autism. The aim of this study was to identify the optimal cut-off score of K-CARS for diagnosing high-functioning individuals with autism spectrum disorders (ASD). METHODS: A total of 329 participants were assessed by the Korean versions of the Autism Diagnostic Interview - Revised (K-ADI-R), Autism Diagnostic Observation Schedule (K-ADOS), and K-CARS. IQ and Social Maturity Scale scores were also obtained. RESULTS: The true positive and false negative rates of K-CARS were 77.2% and 22.8%, respectively. Verbal IQ (VIQ) and Social Quotient (SQ) were significant predictors of misclassification. The false negative rate increased to 36.0% from 19.8% when VIQ was >69.5, and the rate increased to 44.1% for participants with VIQ > 69.5 and SQ > 75.5. In addition, if SQ was >83.5, the false negative rate increased to 46.7%, even if the participant's VIQ was ≤69.5. Optimal cut-off scores were 28.5 (for VIQ ≤ 69.5 and SQ ≤ 75.5), 24.25 (for VIQ > 69.5 and SQ > 75.5), and 24.5 (for SQ > 83.5), respectively. CONCLUSION: The likelihood of a false negative error increases when K-CARS is used to diagnose high-functioning autism and Asperger's syndrome. For subjects with ASD and substantial verbal ability, the cut-off score for K-CARS should be re-adjusted and/or supplementary diagnostic tools might be needed to enhance diagnostic accuracy for ASD.

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.

The role of the brain-derived neurotrophic factor genotype and parenting in early life in predicting externalizing and internalizing symptoms in children with attention-deficit hyperactivity disorder.

BACKGROUND: We aimed to determine whether early parenting is associated with externalizing and internalizing symptoms in children with attention-deficit hyperactivity disorder (ADHD) and whether such an association is affected by the brain-derived neurotrophic factor (BDNF) val66met polymorphism. METHODS: The participants included 92 patients with ADHD aged 6-15 years. Measures of parenting in early life and externalizing and internalizing symptoms and the genotype of the BDNF Val66Met polymorphism were obtained. RESULTS: The degree to which the baby's autonomy was allowed was significantly and negatively correlated with the CDI scores in ADHD children (r = -0.38, p = 0.005). After adjusting for the child's gender, the child's age, the family's gross annual income, and the maternal education level, there was a significant interaction for the BDNF genotype and mother's positive feelings about caring in relation to the development of childhood anxiety/depression in ADHD children (F = 2.51, p = 0.011). CONCLUSIONS: Our results provide evidence of an interaction between the BDNF met allele and early parenting on the development of depression/anxiety symptoms.

Increased use of lethal methods and annual increase of suicide rates in Korean adolescents: comparison with adolescents in the United States.

BACKGROUND: The lethality of the suicide method is a strong risk factor for completed suicide. We examined whether the annual change in the pattern of suicide methods was related to the annual change in suicide rates among adolescents in South Korea and the United States. METHODS: We analyzed annual data for the 2000-2009 period for South Korea and the 2000-2008 period for the United States to examine time trends in the suicide rates and suicide methods of adolescents aged 10-19 years in two countries. Data on suicide methods were obtained from the World Health Organization (WHO) mortality database. RESULTS: Suicide rates among adolescents in the United States have remained relatively steady since 2000, whereas the suicide among Korean adolescents has increased. Between 2000 and 2009, the most common suicide method among Korean adolescents was jumping for boys and girls, whereas it was hanging for girls and firearms for boys in the United States. Along with the annual increase in suicide rates in South Korea, the incidences of jumping among males and hanging (and recently jumping) among females have increased steadily, whereas suicide by self-poisoning steadily decreased. In the United States, between 2000 and 2008, the proportion of suicides committed by hanging increased, whereas those committed using firearms steadily decreased, particularly among adolescent females. CONCLUSIONS: These findings suggest that the increased use of lethal suicide methods is reflected in the increase in suicide rates in Korean adolescents. The most fruitful approach to addressing the rises in jumping suicides among Korean adolescents and hanging suicides among adolescents in the United States may be through population-based initiatives to reduce the physical availability (e.g., limiting access to or fencing off tall structures) and the social acceptability (e.g., effective and responsible regulations for reporting suicide) of these methods.

Different clinical courses of children exposed to a single incident of psychological trauma: a 30-month prospective follow-up study.

BACKGROUND: We investigated the distinct longitudinal trajectories of posttraumatic stress symptoms in a sample of 167 children, who witnessed death of two mothers of their schoolmates. METHODS: The cohort was followed-up at 2 days (T1), 2 months (T2), 6 months (T3), and 30 months (T4) after the traumatic event. The children's posttraumatic stress symptoms (T1-T4), depression (T1, T3 and T4), state anxiety (T1, T3 and T4), and quality of life (T4) were assessed, along with parental stress related to child rearing (T4). Different trajectory patterns of the children's posttraumatic stress symptoms were identified using growth mixture modeling (GMM). RESULTS: Four different patterns of symptom change were identified, which were consistent with the prototypical model, and were named Recovery (19.9%), Resilience (72.7%), Chronic Dysfunction (1.8%), and Delayed Reactions (5.6%). Significant differences were found in depression and anxiety scores, children's quality of life, and parental rearing stress according to the distinct longitudinal trajectories of posttraumatic stress symptoms. CONCLUSIONS: The present study suggests that individual differences should be taken into account in the clinical course and outcome of children exposed to psychological trauma. The two most common trajectories were the Resilience and the Recovery types, together suggesting that over 90% of children were evidenced with a favorable 30-month outcome. The latent classes were associated with significant mean differences in depression and anxiety scores, supporting the clinical validity of the distinct trajectories.

No association of the norepinephrine transporter gene (SLC6A2) and cognitive and behavioural phenotypes of patients with autism spectrum disorder.

We examined the association between the norepinephrine transporter (SLC6A2) gene and autism spectrum disorder (ASD) in a Korean population. In addition, we investigated which phenotypes of ASD are best attributed to the genotype of SLC6A2. A total of 184 subjects with ASD, their 156 unaffected siblings and both biological parents were recruited through university hospitals. We used the Autism Diagnostic Interview-Revised, the Aberrant Behaviour Checklist (ABC), the Child Behaviour Checklist (CBCL), the Stroop Colour-Word Interference Test and the Wisconsin Card Sorting Test (WCST) as quantitative measures of the ASD phenotypes. The associations between the quantitative measures and specific single-nucleotide polymorphisms (SNPs) were tested with linear regression analyses. We did not find any evidence of the over-transmission of either allele of the 10SLC6A2 SNPs in the DFAM test. At an empirical p value <0.05, findings that were consistent between the linear regression analyses and the QFAM tests were the positive associations between the A allele of rs36020 and attention problems on the CBCL and stereotypical behaviours on the ABC and between the C allele of rs1814270 and the number of trials required to complete the first WCST category. However, these associations did not remain after correction for multiple testing. The study results of this study do not support the association between the SLC6A2 and the diagnosis or phenotype of ASD. However, the study must be replicated in larger populations and with using more genetic markers.

Protective effect of breastfeeding with regard to children's behavioral and cognitive problems.

BACKGROUND: Breastfeeding has been associated with a lower risk for behavioral problems in childhood. However, it is uncertain whether these associations are mediated by the mother's or child's IQ. We examined the association between breastfeeding and attention-deficit hyperactivity disorder (ADHD) and other behavioral problems in childhood and assessed the role of the child's IQ and the mother's IQ in generating this association. FINDINGS: The current study included 874 children (8-11 years) recruited from schools in five Korean cities. Mothers were asked about nursing, and the prevalence of attention-deficit hyperactivity disorder (ADHD) and behavioral problems were compared between children who were breastfed and those who were not breastfed. After adjusting for age, gender, area of residence, and yearly family income, a lack of breastfeeding was associated with increased internalizing, externalizing, and overall behavioral problems as well as the diagnosis of ADHD. These associations weakened but mostly remained significant after adjusting for child's IQ and maternal IQ. In addition, a lack of breastfeeding was associated with low child's IQ and this association weakened, but remained significant even after adjusting for maternal IQ and the diagnosis of ADHD. CONCLUSIONS: This study suggests that there is a protective effect of breastfeeding on childhood behavioral outcomes with a partial mediation of this effect by the child's IQ, and there is a positive effect of breastfeeding on childhood intelligence with a partial mediation of this effect by the child's attention problem.

Subthreshold attention-deficit/hyperactivity disorder is associated with functional impairments across domains: a comprehensive analysis in a large-scale community study.

This study compared children who experience attention-deficit/hyperactivity disorder (ADHD) symptoms but do not meet criteria (i.e., subthreshold ADHD) with those with the full syndrome and healthy controls. Presence of ADHD symptoms was determined in a nationwide community sample of 921 children, aged 8-11 years. The main outcome measures comprised attentional symptoms, comorbidity profiles, academic performance, and neurocognitive ability (i.e., ADHD Rating Scale, Child Behavior Checklist, Learning Disability Evaluation Scale, and Stroop Color-Word Test, respectively). Subthreshold ADHD was equally prevalent in boys and girls, and more prevalent in low-income families. Throughout all the outcome measurements, subthreshold ADHD was both a significantly milder condition than full syndrome ADHD and a significantly more severe condition than non-ADHD status. The findings were consistent across the total as well as the subtest scores, and after correction for multiple comparisons (p < 0.0017). Children with subthreshold ADHD were found to experience significant symptoms and functional impairments. The results of this study support the clinical relevance of subthreshold ADHD in a childhood population. Subthreshold diagnostic criteria for ADHD may be more sensitive in detecting ADHD symptoms in girls than the full syndrome criteria, and subthreshold clinical, cognitive, and behavioral symptoms of ADHD may occur in a subset of children who are possibly more sensitive to their environment. Further consideration about the diagnostic threshold for ADHD may particularly benefit girls and children in low-income families.

Diagnosis and Assessment of Autism Spectrum Disorder in South Korea.

Autism spectrum disorder (ASD) is diagnosed by the clinical decision of a trained professional based on the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition or International Classification of Diseases 11th Revision diagnostic criteria. To obtain information for diagnostic formulation, professionals should explore detailed developmental history, and can use structured or semi-structured assessment tools to observe interaction between the child and parents or strangers. Diagnostic assessment should include a profile of the strength and weaknesses of the individual and should be conducted using an optimal approach by a multidisciplinary team with appropriate techniques and experience. Assessment of language, cognitive, neuropsychological, and adaptive functioning should be conducted in ASD individuals prior to establishing an individualized treatment plan. Genetic testing, brain magnetic resonance imaging or electroencephalogram testing can be considered for identification of underlying causes.

Examining the Use of Oral Aripiprazole in Patients With Autism Spectrum Disorder: A Study of Retrospective Chart Review at a University Medical Center.

Objectives: The purpose of this study was to examine the patterns of use of oral aripiprazole treatment in children and adolescents diagnosed with autism spectrum disorder (ASD) at a university medical center in Korea. Methods: We retrospectively reviewed the medical records of 164 outpatient children and adolescents diagnosed with ASD by child and adolescent psychiatrists. Patient demographic characteristics, clinical features, age and dose of aripiprazole treatment, associated adverse events, and concomitant medications, etc. were evaluated. Results: Aripiprazole treatment was initiated at a mean age of 7.64 years, at a mean initial dose of 1.15 mg. Methylphenidate was often co-administered with aripiprazole. The most commonly reported adverse effects were increased appetite and weight gain, which in some cases led to discontinuation of medication. Conclusion: A follow-up study is warranted to evaluate the efficacy and safety of aripiprazole treatment in Korean children and adolescents diagnosed with ASD, and it is crucial to consider their clinical characteristics and response to treatment in the evaluation.