• BMB Reports
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• v.53 no.10
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• pp.500-511
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• 2020

14-3-3 proteins are mostly expressed in the brain and are closely involved in numerous brain functions and various brain disorders. Among the isotypes of the 14-3-3 proteins, 14-3-3γ is mainly expressed in neurons and is highly produced during brain development, which could indicate that it has a significance in neural development. Furthermore, the distinctive levels of temporally and locally regulated 14-3-3γ expression in various brain disorders suggest that it could play a substantial role in brain plasticity of the diseased states. In this review, we introduce the various brain disorders reported to be involved with 14-3-3γ, and summarize the changes of 14-3-3γ expression in each brain disease. We also discuss the potential of 14-3-3γ for treatment and the importance of research on specific 14-3-3 isotypes for an effective therapeutic approach.

• Journal of Dental Anesthesia and Pain Medicine
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• v.18 no.4
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• pp.261-265
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• 2018

Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although girls with RS show normal or near-normal growth until 6-8 months, they lose their skills after that. The anesthetic management of these patients requires care because of all these clinical features. Especially in the postoperative period, prolonged apnea is common and extubation is delayed. In this case report, the effect of using sugammadex was presented in a 16-year-old girl with RS. The patient's all bimaxillary teeth and 4 wisdom teeth were extracted under general anesthesia in one session with minimal surgical trauma and moderate bleeding. Sugammadex can be a rapid and reliable agent for the reversal of the neuromuscular block in neurodegenerative patients.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.39-41
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder of hyperphagia leading to severe obesity, intellectual deficits, compulsivity, and other behavioral problems. PWS is caused by the inactivation of contiguous genes on chromosome 15q11-q13, which complicates the development of targeted, effective therapeutics. Various preclinical studies have been conducted by developing mouse models that exhibit phenotypes similar to PWS. Oxytocin deficiency in PWS is associated with hyperphagia with impaired satiety and, food-seeking and behavior disorders. Here, we summarize the oxytocin study of ingestion behavior tested in the PWS mouse model and published data from clinical trials that have evaluated treatment effectiveness on ingestion behavior and social dysfunction in patients with PWS.

• Journal of the Korean Society of Physical Medicine
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• v.18 no.4
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• pp.29-35
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• 2023

PURPOSE: High-intensity physical therapy may help improve some gross motor developmental delays through an increased treatment frequency. This study describes an increase in physical therapy frequency and intensity over an eight-week time frame for a child with a rare genetic neurodevelopmental disorder. METHODS: A single-subject research was performed. The subject was a nine-year-old boy with MECP2 Duplication Syndrome. The outcome measure consisted of one time before and after the intervention. An intensive physical therapy program was applied to this subject. The treatments included reciprocal crawling, high kneeling, tailor sitting, weight-bearing and shifting training to facilitate ankle balance strategies and training to walk without assistance. RESULTS: After the eight-week follow-up, the child achieved a gradual improvement in the gross motor function measures, and the mother reported that the child frequently engaged in tailor sitting and independently walking. CONCLUSION: This case study highlights that intensive physical therapy improved the overall motor function of a child with MECP2 duplication syndrome.

• Clinical and Experimental Pediatrics
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• v.63 no.9
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• pp.368-372
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• 2020

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by impairments in social interaction and verbal and nonverbal communication. Purpose: Determine the association between use of assisted reproduction technology (ART) and the risk of ASD among children. Methods: This case-control study included 300 participants (100 cases, 200 controls). The control group included women with a child aged 2-10 years without ASD, while the cases were women with a child aged 2-10 years with ASD. We used a researcher-made questionnaire. Data were analyzed using Stata ver. 14 at the 0.05 significance level. Results: In the univariate analysis, there was significant association between child sex, delivery mode, history of preterm delivery, history of using ART, and maternal age at child's birth and the risk of ASD. After the adjustment for other variables, this association was significant for male sex (2.66; 95% confidence interval [CI], 1.11-4.31; P=0.001) and history of using ART (4.03; 95% CI, 1.76-9.21; P=0.001). Therefore, after the adjustment for confounder variables, there was no significant association between ART and the risk of ASD among children (4.98; 95% CI, 0.91-27.30; P=0.065). Conclusion: After the adjustment for other variables, risk factors for ASD were male sex and history preterm delivery. Thus, there was no significant association between ART and the risk of ASD among children.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.32 no.1
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• pp.28-34
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• 2021

Objectives: This study aimed to examine the effect of maternal adverse childhood experiences (ACEs) on the attention-deficit/hyperactivity disorder (ADHD) symptoms in the offspring and to examine the mediating role of antepartum health risk on the intergenerational transmission of maternal ACEs. Methods: The participants consisted of 461 mother-child dyads. Mothers completed the ACEs questionnaire and Diagnostic Predictive Scales. Multivariate logistic regression analysis was used to estimate the risk of ADHD symptoms in the offspring of mothers with ACEs and the mediating effect of antepartum health risks by path analysis. Results: In all, 35.4% (n=163) had at least one maternal ACE, and 11.1% (n=51) had three or more. Compared to the non-ADHD symptom group, the group of offspring with ADHD symptoms showed a significant association with maternal ACE score (p<0.001) and antepartum health risks (p<0.001). Multivariate analysis further showed a significant association between the sum of maternal ACEs [odds ratio (OR)=1.264, 95% confidence interval (CI)= 1.060-1.516, p=0.009], antepartum health risks (OR=1.236, 95% CI=1.036-1.475, p=0.019), and ADHD symptoms in the offspring. In the mediation model in which the mother's ACE score affected the offspring's ADHD symptoms, partial mediation through antepartum health risks was found to be significant (B=0.041, 95% CI=0.011-0.124). Conclusion: Maternal ACEs are significantly related to the incidence of ADHD symptoms in the offspring and antepartum health risks exert an indirect effect. These findings suggest that maternal ACEs have a negative impact on the offspring's brain development through intergenerational transmission, resulting in neurodevelopmental disorders such as ADHD.

• The Journal of Korean Academy of Sensory Integration
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• v.19 no.1
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• pp.39-53
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• 2021

Objective : The purpose of this study was to systematically review dysphagia rehabilitation treatment for children with feeding disorders. Methods : The articles evaluated in this study were collected from the PubMed, Medline Complete, and CINAHL databases and subsequently reviewed using the PRISMA flow chart and PICOS approach. A total of 13 papers were analyzed for study quality, disease groups, evaluation tools, interventions, and post-intervention effects. Results : Of the reviewed papers, six (46.15%) related to autism spectrum disorder (ASD) and seven (53.85%) to cerebral palsy (CP) with age ranges of between 2 and 8 years for the ASD studies and between 12 months and 18 years for CP. In evaluating the types of feeding disorder involved, the ASD group exhibited predominantly behavioral conditions while the CP subjects had a larger number of functional oral and swallowing issues. In terms of interventions, behavior modifications were used most frequently with ASD while oral-sensory motor, texture modifications, and electrical stimulation were applied at the same frequency with children with CP. All interventions were found to be effective. Conclusion : In this study, research into children with feeding disorders was reviewed according to condition, evaluation tool, and method of intervention. It is expected that this review can be used as basic data for developing a protocol that will allow clinicians to efficiently apply condition-specific interventions for eating disorders without resorting to trial and error.

• Korean Journal of Medicinal Crop Science
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• v.24 no.5
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• pp.341-350
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• 2016

Background: Prenatal exposure to infectious and/or inflammatory insults can increase the risk of developing neuropsychiatric disorder such as bipolar disorder, autism, and schizophrenia later in life. We investigated whether Valeriana fauriei (VF) treatment alleviates prepulse inhibition (PPI) deficits and social interaction impairment induced by maternal immune activation (MIA). Methods and Results: Pregnant mice were exposed to polyriboinosinic-polyribocytidilic acid (5 mg/kg, viral infection mimic) on gestational day 9. The adolescent offspring received daily oral treatment with VF (100 mg/kg) and injections of clozapine (5 mg/kg) for 30 days starting on the postnatal day 35. The effects of VF extract treatment on behavioral activity impairment and protein expression were investigated using the PPI analysis, forced swim test (FST), open field test (OFT), social interaction test (SIT), and immunohistochemistry. The MIA-induced offspring showed deficits in the PPI, FST, OFT, and SIT compared to their non MIA-induced counterparts. Treatment with the VF extract significantly recovered the sensorimotor gating deficits and partially recovered the aggressive behavior observed in the SIT. The VF extract also reversed the downregulation of protein expression induced by MIA in the medial prefrontal cortex. Conclusions: Our results provide initial evidence of the fact that the VF extract could reverse MIA-induced behavioral impairment and prevent neurodevelopmental disorders such as schizophrenia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.173-182
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• 2005

This review is a clinical and research update of recent literature related to childhood onset schizophrenia (with an onset of psychosis by age 12). Childhood onset schizophrenia(COS) is a rare disorder, but that may represent a more homogeneous patient population in which to search for risk or etiologic factors of schizophrenia. These overview data show that COS shares the same clinical and neurobiological features as later onset forms of the disorder. Compared with later onset schizophrenia, however, this subgroup of patients appear to have more severe premorbid neurodevelopmental abnormalities, more cytogenic abnormalies, poor outcome, and potentially greater family histories of schizophrenia and associated spectrum disorders. Future studies of this subgroup may provide important clues as to the genetic basis for schizophrenia and how gene products influence certain feature of the disease, such as age of onset and mode of inheritance.