• Journal of Genetic Medicine
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• v.19 no.2
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• pp.100-104
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• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• Toxicological Research
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• v.17 no.3
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• pp.225-234
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• 2001

The present study was conducted to investigate the effects of Korean red ginseng water extract (KRGWE) on developmental toxicity caused by the environmental estrogen bisphenol A (BPA) in Sprague-Dawley rats. fifty males successfully mated were randomly assigned to five experimental groups, 1.e., group I (vehicle control), group II (BPA 1000mg/kg), group III (KRGWE 400mg/kg), group IV (BPA 1000mg/kg & KRGWE 200mg/kg), and group V (BPA 1000mg/kg & KRGWE 400mg/kg). The test articles were administered by gavage to mated females from gestational days (GD) 1 through 20 (sperm vaginal lavage=day O). All females were subjected to caesarean section on GD 21 and their fetuses were examined for external, visceral, and skeletal abnormalities. In the group II, significant maternal toxic effects including suppressed body weight, decreased body weight gain during pregnancy, and reduced food consumption were observed in pregnant rats. The minimal developmental toxicity including fetal ossification delay was also found in fetuses. In addition, a tendency for increased pregnancy failure, increased pre-and postimplantation loss, and decreased fetal body weight was observed. However, no fetal morpho-logical abnormalities were seen in surviving fetuses at a dose level of 1000mg BPA/kg. On the other hand, the maternal toxicity and developmental toxicity found in the groups IV and V were comparable to those of the group II. There were no adverse signs of either maternal toxicity or developmental toxicity in the group III. These results showed that administration of BPA at a dose level of 1000mg/kg to pregnant rats resulted in significant maternal toxicity and minimal developmental toxicity, and that no protective effects on BPA-induced maternal toxicity and developmental toxicity were found by concomitant gavage dosing of KRGWE.

• The Journal of Korean Academy of Sensory Integration
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• v.15 no.2
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• pp.66-79
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• 2017

Objective : The purpose of this study is investigate the effects of sensory integration combined with auditory treatment on the sensory processing, visual perception and attention ability of children with developmental delay. Methods : A combined treatment of auditory training and sensory integration therapy was implemented to 3 children aged 4 to 7 and diagnosed with developmental delay during 9 weeks period from December 2016 to January 2017. ABA' design which is one of single subject research designs was used in this study. Baseline A had 4 sessions, intervention B had 15 sessions, and baseline A' had 4 sessions, so 23 sessions were applied in total. During the baseline A and A 'periods, visual perception ability was measured by K-DTVP-2 (Korea Developmental Test Visual Perception-2) and sensory processing ability was evaluated by sensory profile. The maintenance time of attention was measured with the absence of intervention for the baseline period, and for the intervention period, it was measured at 10 minutes break time which was provided after the intervention. The children's attention time during a fine motor task provided were measured using video recorder with the interval recording method, and the interval for the evaluation was 30 seconds. Results : No statistically significant difference were found in the visual perception function and sensory processing scores before and after treatment. Attention of participant A enhanced significantly while that of participant B and C did not improve significantly. Conclusion : It is hard to conclude that sensory integration therapy combined with auditory perception training has positive effects on visual perception function and attention of children with developmental delays. However, there were significant increase in attention and improvements in behavior related to sensory processing for some cases in this study. In further study, longer intervention periods and valid measurement need to be applied in order to get better results. And it is proposed that more studies need to be done to enhance evidence of auditory perception training as a mean to facilitate attention and to prepare learning.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.20 no.3
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• pp.152-157
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• 2009

Objectives : We investigated the parenting stress and depressive mood of mothers with developmentally-delayed children and the effects of participation in a mother-child development promotion program on same. Methods : Subjects were the mothers of 20 developmentally-delayed children. The severity of the mothers' parenting stress was evaluated via the Korean version of the Parenting Stress Index, Short Form (K-PSI-SF) and the severity of their depressive symptoms were evalueted by the Korean version of the Beck Depression Inventory (K-BDI). Results : The mean K-PSI-SF score and mean K-BDI score for these mothers were 93.35 (SD=10.47) and 23.25 (SD=10.42), respectively. These scores correspond to high parenting stress and moderate depression. The mothers who participated in a mother-child attachment- promotion program showed significant decreases in their K-PSI-SF and KBDI scores. Conclusion : Our data suggest that a mother-child attachment promotion program with emphasis on child development is effective in reducing parenting stress and depressive mood in mothers of developmentally-delayed children.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Proceedings of the Korean Society of Precision Engineering Conference
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• 1996.11a
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• pp.1004-1011
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• 1996

This paper covers the technology developmental stage work for the automatic ammunition loading system mainly focusing on the controller design of the electro-hydranlic type direct drive multi-axis manipulator. Mathematical model of the plant derived and PIDM servo-controller structured. Comparative study between the analytical and experimental work has been carried out to help understand the response property of the direct dine multi-axis robot. In the direct drive robot, non-negligible amount of disturbance and load Induced dynamics variation are transmitted to the drive axis and nonlinearity is highly observed. Thereupon a robust controller Implementing time-delay control law is proposed, and computer simulation confirms the possibility for the time-delay control application against the unpredictable disturbance and load-Induced dynamics variation.

• Korean Parent-Child Health Journal
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• v.5 no.2
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• pp.177-190
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• 2002

This study were conducted to assess the physical growth and developmental status of infants in orphanage in order to provide an empirical data. The subjects for this study were 104 infants and toddlers who were reared in an orphanage in D Metropolitan city. The instrument used for this study were anthropometric assessment and DDST for normative data of development. Data has been collected from September 1st, 1998 to August 31st, 2000 and were analyzed using SPSS/PC(Version 10.0) with frequency, mean, standard deviation, ANOVA and Chi-square test. The results of this study were as follows; 1. 30.8% of infants in orphanage had abnormal weight, 26.9% had abnormal length, and 22.1% had abnormal head circumference and most of them were distributed below 50 percentile of growth chart. 2. 53.8% of infants in orphanage had normal, 27.9% had qustionable, and 18.3% had abnormal developmental screening test results, especially, 31.5% of infants in orphanage ages 3 to 5 years had abnormal developmental screening test results, according to the Denver Developmental Screening Test(DDST). There was a significant developmental delay noted in the language and fine motor-adaptive sector. 3. It is anticipated that developmental delays would increase in severity by older the mean age of orphanage infants and longer the time being raised in orphanage. It would be concluded that the physical growth and developmental status of orphaned infants were very vulnerable and serious and it is suggested that there needed an effective intervention strategies to promote growth and development of infants in orphanage.

• Clinical and Experimental Pediatrics
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• v.58 no.1
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• pp.8-14
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• 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

• Journal of Korean Neurosurgical Society
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• v.44 no.4
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• pp.240-244
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• 2008

Objective : Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8 patients with Sotos Syndrome in Korea for a new understanding and treatment strategies. Methods : The medical records of a total of eight Korean children with Sotos Syndrome were reviewed. All patients underwent developmental checkup, lumbar punctures for measurement of intracranial pressure (ICP), brain and spine magnetic resonance imaging and computerized tomography. Results : All 8 patients showed macrocephaly and the characteristic craniofacial features of Sotos Syndrome. Other clinical characteristics shown were overgrowth (7/8), developmental delay (7/8), congenital heart defect (3/8), flat foot (8/8), scoliosis (4/8), spina bifida (8/8), hydrocephalus (4/8), cavum vergae (3/8), and increased subdural fluid collection (5/8). Mean ICP measured via lumbar puncture was $27.35{\pm}6.25\;cm$ $H_2O$ (range 20 to 36 cm $H_2O$). Two patients received ventriculo-peritoneal shunt, and 1 patient underwent subduro-peritoneal shunt with improvement. Spinal orthosis was applied to 4/5 patients with scoliosis and 4/8 children with flat foot were provided with foot orthosis. Conclusion : In this first Korean study of 8 Sotos Syndrome patients we demonstrated the presence of spina bifida and increased ICP, which had not been previously described. The authors therefore suggest that all patients with Sotos Syndrome should undergo examination for the presence of spina bifida, and that shunt procedures would improve development and alleviate clinical symptoms.