• Clinical and Experimental Pediatrics
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• 제57권9호
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• pp.384-395
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• 2014

Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination.

• 대한장애인치과학회지
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• 제11권1호
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• pp.17-20
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• 2015

Autism is a life-long neurodevelopmental disorder characterized by qualitative abnormalities in reciprocal social interactions and patterns of communication. Patients with autism are difficult to manage during dental treatment. Thus they need special consideration like physical restraint, conscious sedation or general anesthesia. A 5-year-old male dental patient with autism was reffered to dental treatment under conscious sedation using intramuscular midazolam that creats anterograde amnesia. Dental procedure using midazolm which cause anterograde amnesia can be effective treatment strategy in autism patient.

• BMB Reports
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• 제53권10호
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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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• 제18권4호
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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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• 제5권1호
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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.

• 대한물리의학회지
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• 제18권4호
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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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• 제63권9호
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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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• 제32권1호
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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.

• 대한감각통합치료학회지
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• 제19권1호
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• pp.39-53
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• 2021

목적 : 체계적 문헌고찰을 통해 섭식장애가 있는 아동의 질환에 따른 연하장애를 증상별로 세분화하고 증상에 따른 치료방법을 알아보고자 한다. 연구방법 : 데이터베이스는 PubMed, Medline, CINAHL을 통해 검색하였다. PRISMA, PICOS를 이용하여 연구를 선정하고 체계적 고찰을 시행하였다. 최종적으로 연구에 사용한 문헌은 총 13개로 연구의 질적수준, 질환군, 평가도구, 중재방법, 중재 후 효과에 대해서 분석하였다. 결과 : 총 13편의 연구를 분석한 결과 섭식장애가 있는 아동의 질환군은 자폐스펙트럼장애(Autism Spectrum Disorder; ASD)는 6편(46.15%), 뇌성마비(Cerebral Palsy; CP)는 7편(53.85%)으로 나타났다. 섭식장애 중재를 받은 아동의 연령대는 ASD는 2-8세, CP는 12개월-18세까지로 확인하였다. 평가영역에서 ASD는 행동평가, CP는 구강과 삼킴기능 평가영역이 가장 많았다. 중재방법에서 ASD는 행동수정이 가장 많았고, CP는 구강감각운동, 음식질감조절, 전기자극치료가 각각 동일한 빈도로 적용된 것으로 나타났다. 중재 후 치료효과에서는 모두 효과가 있었다. 결론 : 본 연구에서 섭식장애가 있는 아동의 질환군, 적용되는 평가도구, 중재방법을 고찰을 통해 알아보았다. 본 연구가 질환에 따른 평가와 중재 선택 시 임상가들이 시행착오를 거치지 않고 효율적인 섭식장애 중재를 적용할 수 있는 프로토콜 개발을 하는데 기초자료로 활용될 수 있을 것으로 기대한다.

• 한국약용작물학회지
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• 제24권5호
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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.