• Journal of Genetic Medicine
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• v.15 no.2
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• pp.115-119
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• 2018

The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

• 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 Academy of Child and Adolescent Psychiatry
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• v.33 no.2
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• pp.55-56
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• 2022

The Guarantee of Rights and Support for Persons with Developmental Disabilities Act was enacted and revised in 2014. However, national measures for persons with developmental disabilities remain insufficient. In the film, "Grown Up," director Hyeyoung Jang filmed the daily life of her sister, who has developmental disabilities. She raised not only the issue of institutionalization in people with developmental disabilities in Korea but also the issue of a lack of policies that would be essential to them and their family members. In the future, I hope that as experts, child and adolescent psychiatrists in Korea will pay more attention to the lives of people with developmental disabilities outside the clinic and propose policies to help them and their family members.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.2
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• pp.117-124
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• 2023

Savant syndrome was described before autism. However, they soon became closely associated, as many of their symptoms (intellectual disability, repetitive behaviors, alterations in social communication, and islets of abilities) overlap. Only a few women with autism have been diagnosed with savant syndrome. The theories or hypotheses that attempt to explain savant syndrome, which are common in autism, present differential treatment according to sex. We postulate that savant syndrome associated with autism as well as autism in general is underdiagnosed in women.

• Journal of Korea Entertainment Industry Association
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• v.13 no.3
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• pp.249-258
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• 2019

The health care services are the most basic social institutions that are provided to citizen including disabled persons for improvement of health. However, the study of the difference of health care services according to the speech therapy use in the people with speech-language disorders was insufficient. The aim of this investigation was to compare the awareness of health care services and characteristics of people with speech-language disorders according to speech therapy use. The researchers selected 229 people with language disorder using raw data of National Survey of the Disabled Person (2017). We compared the characteristics and health care services of people with speech-language disorders by distinguishing between speech therapy non-users and speech therapy users. Among the 229 people with language disorder, speech therapy users were 37 persons (16.2%). In comparison with non-users, users were younger, more preschoolers, more family incomes, and intellectual disabilities and autistic disorder were the most common types of disability enrollment. Users had a lower proportion of unmet medical needs than non-users. For the reasons of unmet medical need, there were 6.8% and 6.3% of the "economic reasons" and "communication difficulties" Both users and non-users responded that "disability management services" need to be strengthened by the government. In conclusion, we suggest that access to health care services needs to be increased to lower the barriers of speech therapy use.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.54-66
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• 1998

Objectives：This study was to investigate the impact of parental psychiatric disorder on offspring's depression, anxiety, self concept, perception of familial relationship compared with offspring of normal control. In offsprings of parents with psychiatric disorder, this study explored whether their psychopathology, self concept, and perception of familial relationship were influenced by parent’s sex, onset time of parent’s psychiatric disorder and parent’s psychiatric diagnosis. Methods：52 offsprings aged 10-18 years of 39 psychiatric outpatient were surveyed from June, 1997 to April, 1998 and completed several questionnaaire, including Korean from of the Family Environment Scale, Korean form of the State-Trait Anxiety Inventory for Children, Korean form of Kovac’s Children’s Depression Inventory, and Korean form of Piers-Harris Children’s Self-Concept Scale. Their score was compared with offsprings’ of normals. In offsprings of parents with psychiatric disorder, they were compared according to parent’s sex, onset time of parent's psychiatric disorder and parent’s psychiatric diagnosis. Results：The results were as follows：1) Offsprings of parents with psychiatric disorder reported higher level of state anxiety and lower level of the FES expressive subscale than offsprings of normals(p<0.05). But they reported higher level of PHCSCS intellectual & school status subscale and popularity subscale than normals(p<0.05). 2) There were no differences in anxiety, depression, self concept, and perception of familial relationship between patient’s sex. 3) Offsprings less than 3 years old when parent’s psychiatric disorder had developed showed higher level of trait anxiety and lower level of FES control subscale than offsprings more than 3 years old (p<0.05). 4) There were no diferences in anxiety, depression, self concept, and perception of familial relationship between patient’ diagnostic groups(schizophrenia spectrum disorder-mood disoderneurosis). Conclusion：The finding indicated that self reported scale of anxiety and depression showed no significant difference between offsprings of psychiatric patients and offsprings of normals. In offsprings of parents with psychiatric disorder, parent’s sex and psychiatiric diagnosis had no influence on offspring’s psychopathology. But the offspring’s age(before 3 years old) when the parent’s psychiatriric disorder developed had influence on higher level of offspring’s trait anxiety. For further high risk group study, direct interview and evaluation of parent-child agreement or teacher-child agreement will be needed in longitudinal study.

• Journal of Dental Anesthesia and Pain Medicine
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• v.22 no.2
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• pp.155-159
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• 2022

Cohen syndrome is a rare genetic disorder associated with mutations in the VPS13B gene. Individuals with this disorder present with diverse clinical manifestations, including muscle hypotonia, intellectual disabilities, and typical facial characteristics, such as prominent upper central incisors and micrognathia. General anesthesia was administered to a 23-year-old man with Cohen syndrome. Although we observed prominent upper central incisors, an overjet of 10 mm, micrognathia, and thyromental distance of 4 cm, hypotonia was not observed in the patient. Intubation was rendered difficult when performing a direct laryngoscopy. However, smooth intubation was achieved using a video laryngoscope. The patient's train of four (TOF) count remained zero close to 60 min after rocuronium administration, suggesting that the drug's muscle-relaxant effect may have been prolonged. A TOF ratio of 0.79 was confirmed 130 min after rocuronium administration, and a TOF ratio of 1.0 was confirmed after administration of 150 mg of sugammadex. The patient's respiration remained stable after extubation, and no recurarization of muscle relaxation was observed. As demonstrated in this case report, it is important to closely monitor recovery from muscle relaxation and prepare multiple techniques for airway management in general anesthesia management of patients with Cohen syndrome.

• Journal of the Korean Society for Library and Information Science
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• v.52 no.1
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• pp.341-357
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• 2018

Due to the paradigm of open science and advanced digital information technology, data sharing and re-use have been actively conducted and considered data-intensive in a wide variety of disciplines. This study aims to investigate the intellectual structure portrayed by the research products re-using the data sets from ICPSR. For the purpose of this study, a total of 570 research products published in 2017 from the ICPSR site were collected and analyzed in two folds. First, the authors and publications of those research products were analyzed in order to show the trends of research using ICPSR data. Authors tend to be affiliated with university or research institute in the United States. The subject areas of journals are recognized into Social Sciences, Health, and Psychology. In addition, a network with clustering analysis was conducted with using co-word occurrence from the titles of the research products. The results show that there are 12 clusters, mental health, tabocco effect, disorder in school, childhood, and adolescence, sexual risk, child injuries, physical activity, violent behavior, survey, family role, women, problem behavior, gender differences in research areas. The structure portrayed by ICPSR data re-uses demonstrates that substantial number of studies in Medicine have been conducted with a perspective of social sciences.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• Journal of Korean Neurosurgical Society
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• v.59 no.3
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• pp.242-246
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• 2016

Craniosynostosis is the premature fusion of calvarial sutures, resulting in deformed craniofacial appearance. Hence, for a long time, it has been considered an aesthetic disorder. Fused sutures restrict growth adjacent to the suture, but compensatory skull growth occurs to accommodate the growing brain. The primary goal for the management of this craniofacial deformity has been to release the constricted skull and reform the distorted shape of the skull vault. However, the intellectual and behavioral prognosis of affected children has also been taken into consideration since the beginning of the modern era of surgical management of craniosynostosis. A growing body of literature indicates that extensive surgery, such as the whole-vault cranioplasty approach, would result in better outcomes. In addition, the age at treatment is becoming a major concern for optimal outcome in terms of cosmetic results as well as neurodevelopment. This review will discuss major concerns regarding neurodevelopmental issues and related factors.