Most screening instruments for autism spectrum disorder (ASD) have been developed and evaluated in western countries. Therefore, difficulties are often experienced when using these instruments because of the cultural differences in the symptoms of ASD. This paper reviews the screening instruments for ASD used in South Korea and explores a new direction in the screening of ASD in South Korea. Among the many published screening instruments for ASD, the screening instruments with a validated Korean version were chosen and reviewed. A total of nine autism-screening instruments met the criteria for the inclusion criteria. Nine screening instruments were summarized and the direction for the Korean version of screening instruments was discussed.
Autism Spectrum Disorder ; Autistic Disorder ; Korea ; Mass Screening

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Anosmia, characterized by the loss of smell, is associated not only with dysfunction in the peripheral olfactory system but also with changes in several brain regions involved in olfactory processing. Specifically, the orbitofrontal cortex is recognized for its pivotal role in integrating olfactory information, engaging in bidirectional communication with the primary olfactory regions, including the olfactory cortex, amygdala, and entorhinal cortex. However, little is known about alterations in structural connections among these brain regions in patients with anosmia. In this study, highresolution T1-weighted images were obtained from participants. Utilizing the volumes of key brain regions implicated in olfactory function, we employed a structural covariance approach to investigate brain reorganization patterns in patients with anosmia (n=22) compared to healthy individuals (n=30). Our structural covariance analysis demonstrated diminished connectivity between the amygdala and entorhinal cortex, components of the primary olfactory network, in patients with anosmia compared to healthy individuals (z=-2.22, FDR-corrected p=0.039). Conversely, connectivity between the orbitofrontal cortex—a major region in the extended olfactory network—and amygdala was found to be enhanced in the anosmia group compared to healthy individuals (z=2.32, FDR-corrected p=0.039). However, the structural connections between the orbitofrontal cortex and entorhinal cortex did not differ significantly between the groups (z=0.04, FDR-corrected p=0.968). These findings suggest a potential structural reorganization, particularly of higher-order cortical regions, possibly as a compensatory effort to interpret the limited olfactory information available in individuals with olfactory loss.

Neuroblastoma (NB) is the most common extra-cranial solid tumor of childhood and is characterized by a wide range of clinical behaviors. Amplification of MYCN is a well-known poor prognostic factor in NB patients. As the MYCN amplification status is usually tested using tumor specimens, lengthy and invasive procedures are unavoidable. To evaluate the possibility of detecting MYCN amplification without invasive procedure, we performed conventional polymerase chain reaction (PCR) analysis to identify MYCN amplification using the preserved serum DNA. PCR of serum DNA was done in 105 NB patients whose MYCN status had been confirmed by fluorescence in situ hybridization. MYCN amplification was evaluated as the ratio of signal intensities between MYCN and NAGK (M/N ratio). When regarding the tissue FISH results as a reference, 10 patients had MYCN-amplified (MNA) NB, and 95 had non-MNA NB. The M/N ratio of the MNA group (median 2.56, range 1.01-3.58) was significantly higher than that of the non-MNA group (median 0.97, range 0.67-5.18) (P < 0.001). In the receiver operating characteristic curve analysis, the area under the curve was 0.957 (95% confidence interval 0.898-1.000; P < 0.001), and it showed 90.9% sensitivity and 97.9% specificity with the selected cut-off value set as 1.6. The detection of MYCN amplification using conventional PCR analysis of serum samples seems to be a simple and promising method to evaluate the MYCN status of NB patients. Further study with a larger set of patients is needed to confirm the accuracy of this result.
DNA* ; Fluorescence ; Humans ; In Situ Hybridization ; Methods ; Neuroblastoma ; Polymerase Chain Reaction* ; ROC Curve ; Sensitivity and Specificity

BACKGROUND: To evaluate the value of random urinary vanillylmandelic acid (VMA) as a surrogate marker for monitoring tumor response and predicting outcome in patients with neuroblastoma (NB). METHODS: Medical records of 91 patients newly diagnosed with NB at the Samsung Medical Center between June 2014 and August 2017 were reviewed. Clinical associations and other prognostic factors, including age at diagnosis, stage, pathologic subtype, MYCN amplification, and other cytogenetic aberrations, were analyzed. Furthermore, the significance of random urinary VMA level in predicting outcome and tumor response was also evaluated. RESULTS: The median random urinary VMA level at diagnosis was 27.9 (range: 1.7–600) mg/g creatinine. Abdominal primary site, male sex, advanced stage, less differentiated pathology (poorly differentiated, undifferentiated), 11q deletion, and high-risk tumor were associated with a higher VMA level at diagnosis. The VMA level decreased during chemotherapy (28.4%, 16.9%, and 9.6% of the VMA level at diagnosis after 3, 6, and 9 cycles of chemotherapy, respectively). A higher VMA level at diagnosis tends to be associated with a better overall survival in high-risk patients with borderline significance (58.3±18.6% vs. 76.5±13.4%, P=0.050). However, in the multivariate analysis, the VMA level was not a significant predictor of survival. A slower reduction in VMA level during chemotherapy was not associated with a worse overall survival. However, event free survival was significantly better in the rapid responder group. CONCLUSION: A higher VMA level was associated with high-risk features at diagnosis of NB. Random urinary VMA is a valuable marker for monitoring NB response during chemotherapy.
Biomarkers ; Chromosome Aberrations ; Creatinine ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Humans ; Male ; Medical Records ; Multivariate Analysis ; Neuroblastoma* ; Pathology ; Prognosis ; Vanilmandelic Acid*

BACKGROUND: By estimating the survival rates and exploring prognostic factors in pediatric patients with relapsed or progressed solid tumors, our purpose was to generate background data for future studies. METHODS: We reviewed the medical records of 258 patients with solid tumors who experienced relapse/progression and received subsequent salvage treatment between 1996 and 2016. RESULTS: A total of 60 patients remained progression-free during first-line salvage treatment, while the remaining 198 patients experienced relapse/progression again; 149 underwent second-line salvage treatment. A total of 76 patients underwent high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT), and 44 patients received allogeneic SCT. The 10-year progression-free survival (PFS) and overall survival (OS) from relapse/progression were 18.4% ± 2.7% and 24.5% ± 3.0%, respectively. Survival rates were relatively higher in patients with anaplastic ependymoma, initially non-high-risk neuroblastoma, osteosarcoma, Wilms tumor and retinoblastoma. A multivariate analysis showed that relapse/progression during initial treatment, metastatic relapse/progression, and impossible debulking surgery were independent poor prognostic factors for both PFS and OS. Patients who exhibited a complete response or partial response during conventional salvage treatment showed significantly higher survival after SCT than those with stable disease or progressive disease (10-year OS: 54.8% ± 7.0% vs. 7.0% ± 3.5%, P < 0.001). CONCLUSION: The prognosis of relapsed/progressed pediatric solid tumors still remains unsatisfactory. New, effective treatment strategies are needed to overcome limitations of current approaches. Hopefully, the background data generated herein will be used in future clinical trials involving patients with relapsed/progressed solid tumors.
Adolescent* ; Child* ; Disease-Free Survival ; Drug Therapy ; Ependymoma ; Humans ; Medical Records ; Multivariate Analysis ; Neuroblastoma ; Osteosarcoma ; Prognosis ; Recurrence ; Retinoblastoma ; Salvage Therapy ; Stem Cell Transplantation ; Survival Rate ; Wilms Tumor