• Title/Summary/Keyword: Neurodevelopmental disorder

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Neuroimaging-Based Deep Learning in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder

  • Song, Jae-Won;Yoon, Na-Rae;Jang, Soo-Min;Lee, Ga-Young;Kim, Bung-Nyun
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.31 no.3
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    • pp.97-104
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    • 2020
  • Deep learning (DL) is a kind of machine learning technique that uses artificial intelligence to identify the characteristics of given data and efficiently analyze large amounts of information to perform tasks such as classification and prediction. In the field of neuroimaging of neurodevelopmental disorders, various biomarkers for diagnosis, classification, prognosis prediction, and treatment response prediction have been examined; however, they have not been efficiently combined to produce meaningful results. DL can be applied to overcome these limitations and produce clinically helpful results. Here, we review studies that combine neurodevelopmental disorder neuroimaging and DL techniques to explore the strengths, limitations, and future directions of this research area.

What is Environmental Disease? - Psychiatric Perspectives - (환경성 질환이란 무엇인가? - 정신과적 관점 -)

  • Kim, Jae-Won
    • Environmental Analysis Health and Toxicology
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    • v.25 no.4
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    • pp.259-262
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    • 2010
  • In this review, we give an overview of psychiatric perspectives on environmental disease. The concept of genetic heritability and its meaning with regard to environmental risk factors will be discussed. Recent ideas of gene-environment interaction and neurodevelopmental disorder in psychiatry will also be introduced. This article discusses the environmental risk factors for attention deficit hyperactivity disorder (ADHD) and autism, the two major environmental diseases and neurodevelopmental disorders in psychiatry. Given that both ADHD and autism are complex conditions, the etiology is likely to involve multiple genes of moderate effect interacting with environmental factors. We will introduce recent environmental issues related to these two disorders.

AUTISTIC DISORDER AND OTHER PERVASIVE DEVELOPMENTAL DISORDER : NEURODEVELOPMENTAL PATHOLOGY (자폐 장애 및 기타 전반적 발달장애 : 신경발달학적 병리 소견)

  • Cheon Keun-Ah;Jung Chul-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.16 no.2
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    • pp.153-159
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    • 2005
  • Autistic disorder and other PDD are currently viewed as a largely genetically determined neurodevelopmental disorder, although its underlying biological causes remain to be established. In this review, we examine the available neurodevelopmental literature on autistic disorder and discuss the findings that have emerged. Typical neuropathological observations are rather consistent with respect to the limbic system (increased cell packing density and smaller neuronal size), the cerebellum (decreased number of Purkinje cells) and the cerebral cortex ($>50\%$ of the cases showed features of cortical dysgenesis). However, most of the reported studies had to contend with the problem of small sample sizes, the use of quantification techniques, not free of bias and assumptions, and high percentages of autistic subjects with comorbid mental retardation or epilepsy. Furthermore, data from the limbic system and on age-related changes lack replication by independent groups. It is anticipated that future neuropathological studies held great promise, especially as new techniques such as design-based stereology and gene expression are increasingly implemented and combined, larger samples are analysed, and younger subjects free of comorbidities are investigated.

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A Korean case of CTCF related neurodevelopmental disorders

  • Seong Ryeong Kang;Soo Hyun Seo;Kyunghoon Kim;Hee Bum Yang;Hye Ran Yang;Anna Cho
    • 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.

The Relationship of Clinical Symptoms with Social Cognition in Children Diagnosed with Attention Deficit Hyperactivity Disorder, Specific Learning Disorder or Autism Spectrum Disorder

  • Sahin, Berkan;Karabekiroglu, Koray;Bozkurt, Abdullah;Usta, Mirac Bans;Aydin, Muazzez;Cobanoglu, Cansu
    • Psychiatry investigation
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    • v.15 no.12
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    • pp.1144-1153
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    • 2018
  • Objective One of the areas of social cognition is Theory of Mind (ToM) is defined as the capacity to interpret, infer and explain mental states underlying the behavior of others. When social cognition studies on neurodevelopmental disorders are examined, it can be seen that this skill has not been studied sufficiently in children with Specific Learning Disorder (SLD). Methods In this study, social cognition skills in children diagnosed with attention deficit hyperactivity disorder (ADHD), SLD or Autism Spectrum Disorder (ASD) evaluated before puberty and compared with controls. To evaluate the ToM skills, the first and second-order false belief tasks, the Hinting Task, the Faux Pas Test and the Reading the Mind in the Eyes Task were used. Results We found that children with neurodevelopmental disorders as ADHD, ASD, and SLD had ToM deficits independent of intelligence and language development. There was a significant correlation between social cognition deficits and problems experienced in many areas such as social communication and interaction, attention, behavior, and learning. Conclusion Social cognition is an important area of impairment in SLD and there is a strong relationship between clinical symptoms and impaired functionality.

Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome

  • Yoon Sunwoo;Soo Hyun Seo;Ho-Joong Kim;Moon Seok Park;Anna Cho
    • 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.

Analysis of Neurophysiological Approaches to the Intervention of Cerebral palsid child (뇌성마비아 중재에 있어서 신경생리학적 접근기법의 분석)

  • Shin Hong-Cheul;Kang Jung-Koo;Hwang Hwan-Ick;Soe Gyu-Won
    • The Journal of Korean Physical Therapy
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    • v.10 no.1
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    • pp.53-65
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    • 1998
  • The main purpose of this paper is to analyze the modes of therapeutic intervention. The emphasis is on the neurophysiological perpective arising out of neurological principles and developmental concepts. The obtained results are as follows. 1. The important hypostheses predicted that the group intervened by neurodevelopmental approach would improve motor function better than the group done by traditional approach and it was proved that neurodevelopmental approach was more effective in gross motor region(P<.01) 2. In the comparison of type of involovement, neurodevelopmental intervention group in spastic type showed improvements in the region of gross motor.(P<.001) 3. In the comparision of degree of disorder, neurodevelopmental intervention group showed improvement of motor function in all the gross motor region in the mild, moderate and severe case.(P<.001) 4. In the comparison of ages of intervention beginning, the group of child between 25-36, 49-60 and 61-72 months(P<.001) intervened by neurodevelopmental approach showed improvements of motor function. 5. In the comparison of intervention duration, neurodevelopmental intervention group showed improvements of motor function in gross motor region according to intervention durstion(P<.001)

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Attunement Disorder : A Disorder of Brain Connectivity (조현병(調鉉病) : 뇌 연결성의 장애)

  • Kim, Ki Won;Park, Kyung-Min;Jang, Hye-Ryeon;Lee, Yu Sang;Park, Seon-Cheol
    • Korean Journal of Biological Psychiatry
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    • v.20 no.4
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    • pp.136-143
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    • 2013
  • Objectives We reviewed cellular and synaptic dysconnectivity, disturbances in micro- and macro- circuitries, and neurodevelopmentally-derived disruptions of neural connectivity in the pathogenesis of schizophrenia. Method We reviewed the selected articles about disturbances in neural circuits which had been proposed as a pathogenetic mechanism of schizophrenia. Results The literature review reveals that schizophrenia may be a disease related to disturbance in neurodevelopmental mechanism, shown as 'a misconnection syndrome of neural circuit or neural network'. In descriptive psychopathological view, definition of a disorder of brain connectivity has limitation to explain other aspects of schizophrenia including deterministic strictness in thought process. Conclusion Schizophrenia is considered as a disorder of brain connectivity as well as a neurodevelopmental disorder related with genetic and environmental factors. We could make a suggestion that "JoHyeonByung (attunement disorder)" denotes the disturbances of psychic fine-tuning which correspond to the neural correlates of brain dysconnectivity metaphorically.

The Effect of Motion Recognition Occupational Therapy on the Physical Self-efficacy, and Visual-motor Integration, Interactive Peer Play of Children with Neurodevelopmental Disorders (모션 인식 활용 작업치료가 신경발달장애 아동의 신체적 자기효능감 및 시각-운동통합 능력, 놀이기술에 미치는 영향)

  • Kim, Ko-Un;Oh, Hye-Won
    • Journal of The Korean Society of Integrative Medicine
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    • v.10 no.1
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    • pp.119-128
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    • 2022
  • Purpose : The purpose of this study was to examine the effects of applying occupational therapy that uses motion recognition on the physical self-efficacy, visual-motor integration ability, and play skills of children who have neurodevelopmental disorder before and after treatment. Methods : This The study chose 16 children with neurodevelopmental disorder as research subjects who were randomly and evenly allocated into an experimental group and a control group. The experiment followed a pretest-posttest design. As an intervention, the experimental group received motion recognition-based occupational therapy and a separate sensory integration program. The control group only participated in the separate sensory integration program. The eight-week experiment duration included 24 intervention sessions where the a 50-minute session was implemented three times a week for eight weeks. To compare the physical self-efficacy, visual-motor integration ability, and play skills before and after the intervention, measurement tools including the Physical self efficacy, Beery VMI-6, and Penn interactive peer play scale were used. All measured variables were analyzed and expressed as mean, standard deviation and percentage. Results : The motion recognition-based occupational therapy demonstrated a significant effect on improving the physical self-efficacy, visual-motor integration ability, and play skills of the experimental group. The intervention also caused a significant difference between the experimental group and control group in terms of the physical self-efficacy, visual-motor integration ability, and play skills. Conclusion : We confirmed the possibility motion recognition-based occupational therapy could be effective in improving the physical self-efficacy, visual-motor integration ability, and play skills for patients who have neurodevelopmental disorder. Based on the study result, further future studies are expected based on this study result that prove the application effect of the motion recognition-based occupational therapy using disabled and non- disabled children as subjects are expected in the future.

Historical and Current View of the Neurodevelopmental Treatment - Bobath Approach - (NDT(Neurodevelopmental Treatment)의 역사와 치료 원리 - Bobath 접근법 -)

  • Kim, Young-Hee
    • Physical Therapy Korea
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    • v.5 no.1
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    • pp.79-90
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    • 1998
  • Neurodevelopmental treatment(NDT) is a widely used technique by physical and occupational therapists in the treatment of neuromuscular disorders. Childeren with cerebral palsy are frequently referred for physical and occupational therapy, yet the effectiveness of treatment has not been well-documented. More than 40 years ago, the Bobath introduced a treatment concept for individuals with central nervous system impairment. A theoretical framework for the approach was based on the common belief in the 1940s that the nervous system functions in a hierarchy. Clinical aspects of the NDT approach have grown and changed during the past 40 years. This article details the original NDT concepts and looks at the concept with regard to newer theoretical frameworks of nervous system.

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