• 대한한방소아과학회지
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• 제33권4호
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• pp.60-73
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• 2019

Objectives This study reviewed the effects of a combined treatment with Kampo and Western medicine for Developmental disability in Japan, and the provision of education programs in clinical care. Methods The search database includes J-STAGE. To narrow the search, the following key words were used: 'pervasive developmental disorders, Attention-Deficit/Hyperactivity Disorder, Learning Disorders or Learning Disabilities, Intellectual Disability, and Kampo'. The search was limited to the publication date from 2001 to 2019. Results 1. Japan analyzed five sections: The usage of the Kampo medicine ranges from 25.2% to 71.6%, and the Kampo medicine was highly used in large cities. 2. In Japan, the educational programs were provided for the caregiver and special educational programs were available for children with disabilities. 3. In Japan, there were 9 studies regarding developmental disability treating with herbal remedies. There were seven clinical trial reports, and two were published in a review or report form. 4. The results showed benefits of using Kampo for patients with lack of Yin in blood in treatment of developmental disorder. It is also important to control the liver qi and Yin in blood. 5. Seven papers reported no side effects or abnormal findings. They have reduced the use of antipsychotics. Conclusions These review studies in regards to the combined treatment of Kampo and Western medicines can be helpful to improve long term side effects of the antipsychotics used in developmental disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제35권3호
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• pp.181-187
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• 2024

Borderline intellectual functioning (BIF) is characterized by cognitive impairment and deficits in adaptive functioning. Despite affecting a significant proportion of the population, BIF still remains underdiagnosed and poorly understood. In addition to cognitive impairments across a range of domains, individuals with BIF face a greater risk of academic failure and often require special educational support. They suffer from emotional problems, such as difficulties with emotional awareness, anxiety, depressed mood, and unhappiness. Individuals with BIF are more likely to have an impairment of social and adaptive functioning. Furthermore, individuals with BIF are at higher risk of physical and mental health problems, often receive inadequate treatment, and have a poorer prognosis. This review aims to enhance the understanding of clinicians, educators, and policymakers by providing an overview of the characteristics of BIF and its associated challenges, ultimately contributing to the improvement of support systems for individuals with BIF.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• Clinical and Experimental Pediatrics
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• 제49권10호
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• pp.1026-1030
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• 2006

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.265-271
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• 2019

The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.

• Genes and Genomics
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• 제40권11호
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• 재활복지공학회논문지
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• 제9권2호
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• pp.105-113
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• 2015

본 연구는 시지각 장애와 일상생활 기능에 어려움이 있는 지적장애아동을 대상으로 아동용 전산화 인지재활 프로그램이 시지각과 일상생활 기능에 임상적인 효과가 있는지 알아보기 위함이다. 이를 증명하기 위해 공통된 특성이 있는 지적장애 아동 3명에게 아동용 전산화 인지재활 프로그램을 총 20회 실시하였다. 시지각 기능의 중재 전과 후를 비교하기 위해 K-DTVP-2를 사용하였고, 일상생활 기능의 중재 전과 후를 비교하기 위해 WeeFIM검사를 실시하였다. 그 결과 지적장애 아동에게 아동용 전산화 인지재활 프로그램을 적용하는 것이 아동의 시지각 기능 특히 비운동성 시지각 기능 향상에 긍정적인 결과를 나타내었으며, 또한 일상생활 활동이 향상되었다. 이 연구로부터 얻은 결과들은 지적장애가 있는 아동 중 특히 시지각 기능에 결여를 보이는 아동에게 아동용 전산화 인지 프로그램을 적용하면 인지능력의 하위부분인 시지각 기능에 긍정적인 효과가 있음을 기대할 수 있고, 그로 인해 일상생활 활동에 향상을 보임을 기대할 수 있다.

• 대한장애인치과학회지
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• 제12권2호
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• pp.66-71
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• 2016

Intellectual disability is accompanied by a high incidence of congenitally absent teeth and supernumerary teeth, and is observed more frequently than are disorders of location and order during delayed eruption, when accompanied by other symptoms. Furthermore, it is associated with a higher occurrence of dental anomalies such as conical teeth, microdontia, and amelogenesis imperfecta. As it is difficult to obtain adequate cooperation from patients with intellectual disabilities, physical restraint and conscious sedation using medication and general anesthesia can be considered. Reshaping of conical teeth with resin composite may be helpful to rehabilitate patients with oligodontia and a conical tooth shape. Diagnostic wax-up and a silicone matrix formed the basis for the successful reconstruction of the anterior teeth. This case describes the treatment of a patient with intellectual disability who had oligodontia and conical-shaped incisors. Under general anesthesia, the patient was treated using direct composite resin restoration.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.34-38
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• 2020

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.

• 한국정보통신학회논문지
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• 제20권8호
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• pp.1561-1568
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• 2016

발달장애청소년은 지적기능과 적응행동에 현저히 제한이 있기 때문에 이들이 고등학교 졸업 후 지역사회의 한 구성원으로서 독립적으로 살아가기 위해서는 개인의 다양성 및 환경적인 차이를 고려한 지속적인 교육이 병행되어야 한다. 컴퓨터교육은 '교육의 평등과 보편성의 확대'라는 측면에서 지역사회적응에 있어 유용한 도구로 활용될 수 있다. 특히, 전환기교육과정으로서의 컴퓨터교육은 성인사회에서 독립적이고 일상적인 삶을 지속하는데 있어 실질적 도움이 된다. 따라서 이 논문은 1)발달장애청소년의 지역사회 적응과 전환기 교육 2) 발달장애청소년을 위한 컴퓨터교육의 중요성과 의의 3)발달장애청소년을 위한 컴퓨터교육의 현황을 살펴보았으며, 이를 통해 발달장애인을 위한 컴퓨터교육의 개선방안을 제시하였다.