PurposeWe investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage.MethodsFor this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months. The results of the K-DST were categorized into 4 groups as follows: further evaluation (<−2 standard deviation [−2SD]), follow-up test (−2SD to −1SD), peer level (−1SD to 1SD), and high level (>1SD).ResultsThe test participants' population and follow-up population were concentrated before the age of 24 months (2,532, 62.3%). The children most commonly referred for further evaluation were those in the 30- to 41-month age group. A mismatch was found between the results of the K-DST and the additional questions. Most of the infants and children with suspicious developmental delays showed catch-up development in their follow-up tests (43 of 55, 78.2%).ConclusionThe use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.
Purpose This study aimed to investigate the seasonal changes in vitamin D levels in a healthy pediatric population living in mid-latitude East Asian urban areas. Methods A pediatric population was selected from single secondary hospital visitors. Clinical data and serum vitamin D levels were collected retrospectively. Statistical analyses were performed based on the month of the blood sampling date, subject age, and vitamin D supplementation history. The data were categorized into three subgroups based on serum vitamin D levels—adequate (≥30 ng/mL), insufficient (20–29 ng/mL), and deficient (<20 ng/mL). Results Of the 481 patients, 172 had vitamin D supplementation history. More than 70% of the total study population had inadequate vitamin D levels (<30 ng/mL). The non-supplemented group and the supplemented group showed significantly uneven monthly distribution of the adequate, insufficient, and deficient subgroups. Only the non-supplemented group showed significantly different average vitamin D levels in the summer months compared to the winter months. In the non-supplemented group, vitamin D levels were the lowest in March, the highest in August and September. Significant relevance was noted between vitamin D supplementation status and vitamin D serum level in February and March. There was no significant difference between different age groups in terms of the distribution of vitamin D levels. Conclusion Currently-widespread vitamin D replacement methods seem to have some effect on increasing the overall serum vitamin D levels, specifically during late winter when natural serum vitamin D levels plunge. However, they are unable to fully compensate the seasonal fluctuation.
=Ab s t r a c t = SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome. ( Ca s eRe p o r t Ca s e1A 9-year-old girl with mental retardation presented to our hospital. The patient was born at 38 weeks gestation; the birth weight was 2,600 g. Development delay was diagnosed by 11 months of age; she could not sit, had a flat, broad nasal bridge, slanting palpebral fissures, protruding forehead, opened mouth, and slanted hands on physical examination.The laboratory findings including the CBC, electrolytes, biochemistry, and thyroid function tests were normal. The patient was reported to have a normal conventional karyotype. The brain MRI showed no specific findings except for a mild ventriculomegaly, and the EEG was normal. At four years of age, the receptive language was at the 24 month level and the expressive language was at the 25 month level.With time the features of the SMS became more apparent.The patient had severe mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies (including brachydactyly), speech and developmental delay, and sleep disturbance (Fig. 1A-1D). On the second cytogenetic study, an interstitial deletion of 17p11.2 was detected by conventional banding and deletion of the FL1 gene was confirmed by FISH using the Cytocell SMS probe (Fig 2A, 2B).
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