• 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.

• 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.

• Journal of Korean Neurosurgical Society
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• v.66 no.3
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• pp.289-297
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• 2023

Technological advances in neonatology led to the improvement of the survival rate in preterm babies with very low birth weights. However, intraventricular hemorrhage (IVH) has been one of the major complications of prematurity. IVH is relevant to neurodevelopmental disorders, such as cerebral palsy, language and cognitive impairments, and neurosensory and psychiatric problems, especially when combined with brain parenchymal injuries. Additionally, severe IVH requiring shunt insertion is associated with a higher risk of adverse neurodevelopmental outcomes. Multidisciplinary and longitudinal rehabilitation should be provided for these children based on the patients' life cycles. During the infantile period, it is essential to detect high-risk infants based on neuromotor examinations and provide early intervention as soon as possible. As babies grow up, close monitoring of language and cognitive development is needed. Moreover, providing continuous rehabilitation with task-specific and intensive repetitive training could improve functional outcomes in children with mild-to-moderate disabilities. After school age, maintaining the level of physical activity and managing complications are also needed.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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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.

• 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.

• Clinical and Experimental Pediatrics
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• v.64 no.1
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• pp.1-2
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• 2021

• The Korean Journal of Physiology and Pharmacology
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• v.23 no.6
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• pp.467-474
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• 2019

Exposure to lead during pregnancy is a risk factor for the development of psychiatric disorders in the offspring. In this study, we investigated whether exposure to low levels of lead acetate (0.2%) in drinking water during pregnancy and lactation causes behavioral impairment and affects the expression of proteins associated with neurodevelopment. Lead exposure altered several parameters in rat offspring compared with those unexposed in open-field, social interaction, and pre-pulse inhibition tests. These parameters were restored to normal levels after clozapine treatment. Western blot and immunohistochemical analyses of the hippocampus revealed that several neurodevelopmental proteins were downregulated in lead-exposed rats. The expression was normalized after clozapine treatment (5 mg/kg/day, postnatal day 35-56). These findings demonstrate that downregulation of several proteins in lead-exposed rats affected subsequent behavioral changes. Our results suggest that lead exposure in early life may induce psychiatric disorders and treatment with antipsychotics such as clozapine may reduce their incidence.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.4
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• pp.192-196
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• 2017

Social (pragmatic) communication disorder (SCD) is a new diagnosis included under communication disorders in the neurodevelopmental disorders section of Diagnostic and Statistical Manual of Mental Disorders-5. SCD is defined as a primary deficit in the social use of nonverbal and verbal communication. SCD has very much in common with pragmatic language impairment, which is characterized by difficulties in understanding and using language in context and following the social rules of language, despite relative strengths in word knowledge and grammar. SCD and Autism Spectrum Disorder (ASD) are similar in that they both involve deficits in social communication skills, however individuals with SCD do not demonstrate restricted interests, repetitive behaviors, insistence on sameness, or sensory abnormalities. It is essential to rule out a diagnosis of ASD by verifying the lack of these additional symptoms, current or past. The criteria for SCD are qualitatively different from those of ASD and are not equivalent to those of mild ASD. It is clinically important that SCD should be differentiated from high-functioning ASD (such as Asperger syndrome) and nonverbal learning disabilities. The ultimate goals are the refinement of the conceptualization, development and validation of assessment tools and interventions, and obtaining a comprehensive understanding of the shared and unique etiologic factors for SCD in relation to those of other neurodevelopmental disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.151-152
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• 2005

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.4
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• pp.175-180
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• 2012

Early detection and intervention is critical in improving prognosis of developmental disorders. Developmental delay can have many different causes and the clinical features of developmental delay are diverse according to its etiologic causes and severity. The vast and rapid growth of the child's neurobehavioral repertoire from birth through adolescence requires the physician's abundant experience, knowledge, and understanding of development. Here, we summarize instruments for use in neurodevelopmental assessment of infants and toddlers, focusing on motor development, which is the most frequent complaint listed in the developmental clinic.