• 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 Journal of Korean Academy of Sensory Integration
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• v.9 no.2
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• pp.41-49
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• 2011

Objective : This study aims to compare children with and without pervasive developmental disorders in terms of the sensory processing ability and behavioral characteristic of oral feeding. This study also aims to identify correlation between sensory processing and characteristics of eating. Methods : The subjects of this research were normal children and those who have diagnosis of a pervasive developmental disorder, aged from 4 to 6. The research instruments were composed of Short Sensory Profile (SSP), Brief Autism Mealtime Behavior Inventory (BAMBI) and Food Items of the Sensory Checklist. Data collection was done by a professional survey institute located in 10 cities including Busan, South Korea. The survey questionnaires were distributed to 455 parents of children with and without pervasive developmental disabilities through the survey institutes. Total 263 answers were collected out of 455 questionnaires (62%) and 154 answers were used in data analysis. Out of 154 answers, 45 were for children with pervasive developmental disabilities and 109 were for normal children. Data analysis was done to identify correlations between sensory processing and characteristics of eating such as eating behavior and oral feeding. Results : 1. There was a significant difference between children with and without pervasive developmental disorders in all area of sensory processing ability (p<.05). 2. There was no difference between children with and without pervasive developmental disorders in eating behavior (p=0.881) and oral feeding (p=0.324). 3. In the group of children with a pervasive developmental disorders, it is found that there is negative correlation between sensory processing, eating behavior and oral feeding (r=-0.384, p<.01). 4. A remarkable significant correlation was found between sensory processing and eating behavior especially in taste/smell sensitivity (r=-0.6, p<.01) and auditory filtering (r=-0.326, p<.05). The correlation between sensory processing and oral feeding was most significant in under responsiveness/seeking sensation (r=-0.372, p<.05) and auditory filtering (r=-0.382, p<.05). Conclusion : This study found that there are significant correlations between sensory processing ability and some characteristics of eating behaviors for children with pervasive developmental disorders. This information can be useful to develop a program to intervene eating behavior problems of children with pervasive developmental disorders.

• 대한치과교정학회:학술대회논문집
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• 2005.11a
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• pp.68.2-69
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• 2005

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.94-98
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• 2012

Purpose: Developmental delay and mental retardation are frequently occurring disorders that present major socio-economic burden on the affected individual's family and society. Both can be congenital or acquired. However, a large number of people are institutionalized without exact diagnosis and, as a result, have not received proper care. Methods: 508 subjects with mental retardation or developmental delay from six institutions in Chung Buk Province were clinically evaluated and screened for metabolic and endocrinologic problems between 2000 and 2012. Results: Clinical genetic disorders were observed in 52 (10.2%) subjects. Cerebral palsy attributed to 21% of the institutionalized. 18 (3.5%) were diagnosed with metabolic disorders and 13 (2.6%) exhibited secondary endocrinologic dysfunction. Over 16% showed metabolic evidence of malnutrition. Conclusion: 21% and 3.5% of the population institutionalized due to mental retardation or developmental delay were afflicted by preventable cerebral palsy and metabolic disorders, respectively. Through early identification of the causes and early treatment, it may be possible to prevent, reduce, or alleviate the disability of many institutionalized individuals. Further research is imperative for establishing guidelines for diagnostic investigation for mental retardation.

• The Journal of Korean Academy of Sensory Integration
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• v.10 no.1
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• pp.21-31
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• 2012

Objective : This study aims to examine the Effect of the Brotherhood Group Sensory Integration intervention to Social Interaction of the Children with Pervasive Developmental Disorders. Methods : The Group Sensory Integration intervention was implemented for 8 weeks period from July to September 2011 targeting 2 children of 7~8 ages diagnosed Pervasive Developmental Disorders. For the study A-B-A' design among Single subject research design was used, while baseline A 3 phases, intervention B 16 phases, baseline A' 3 phases in total 22 phases were applied. The Quality of Social Interaction was measured through ESI(Evaluation Social interaction) during the baseline between A and A' period, and the Frequency of Social Interaction was measured under the condition that non-availability of intervention during baseline period, while during intervention period, it was measured by utilizing Interval recording method upon filming by video of 10 minutes free-play after every intervention. Results : The Quality of Social interaction indicated a statistical significance by all targeted children after intervention. Also a statistical significance was indicated in the Frequency of Social interaction as there appeared consecutively more than two of the values of baseline A average and Standard deviation band from all targeted children at the free-play implemented after each intervention of every phase. Conclusion : It could be verified that Brotherhood Group Sensory integration intervention has a positive effect to Social interaction of the Children with Pervasive Developmental Disorders. Therefore, the Brotherhood Group Sensory integration intervention can be effectively applicable as being a therapy to improve Social interaction toward Children with Pervasive Developmental Disorders at the clinic.

• The Journal of the Korea Contents Association
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• v.19 no.9
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• pp.262-270
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• 2019

This study aimed to develop designs for an early screening questionnaire for developmental disorders among children from multicultural families in the Republic of Korea, who are at an increased risk of developmental disorders due to cultural and language barriers. Research on early screening questionnaires for multicultural families is extremely scanty, unlike that on ordinary early detection tests designed for the same category of disorders. Worse still, there have been no attempts made at overcoming the limitations of language-based and intercultural communication that are endured by multicultural parents and social workers in the field. Given the challenges, this study confirmed through professional seminars the present status of early developmental disorder screening questionnaires and the necessity for developing specialized versions for multicultural children. Then the study identified the needs of the stakeholders by employing surveys and interviews, and obtained insights and core design elements. These preceding implementations led to the creation of an early developmental disorder screening questionnaire for multicultural families. The test kit incorporates the style of illustrations preferred by multicultural parents, as well as a system of language-specific interpretation services. Produced in a leaflet format, the questionnaire will be used at support centers for multicultural families and for disabled persons in each district for the practical purpose of early screening of developmental disorders among multicultural infants and preschool children.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.46-50
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• 2013

Developmental disorders are a group of psychiatric conditions originating in childhood that involve serious impairments in different areas. These disorders comprise language disorders, learning disorders, motor disorders and autism spectrum disorders. Midazolam is a short-acting drug in the benzodiazepine class developed by Hoffmann-La Roche in the 1970s. The drug is used for treatment of acute seizures, moderate to severe insomnia, and for inducing sedation and amnesia before medical procedures. It possesses profoundly potent anxiolytic, amnestic, hypnotic, anticonvulsant, skeletal muscle relaxant, and sedative properties. The anterograde amnesia property of midazolam is useful for premedication before surgery to inhibit unpleasant memories. This article presents a case report including caries treatment of a 8-year-old male patient with developmental disorders using oral midazolam premedication as an alternative method of behavior management prior to general anesthesia.

• Journal of Nutrition and Health
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• v.45 no.1
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• pp.44-56
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• 2012

This study investigated dietary behavior and nutrient intake in children with developmental disorders as compared with non-disabled children and assessed the relationship between dietary behavior and nutrient intake. The survey was conducted on 118 students ($4^{th}$ and $5^{th}$ grade) of four special education schools and 244 students of an elementary school (control group). The survey was carried out using a questionnaire and an interview. Of the disabled children, children with a mental disorder comprised 72.9% and those with emotional disorders including autism comprised 26.3%. The average percentages of height and weight to standards for age were significantly lower in the disabled female children as compared with the non-disabled female children. Scores for table utensil handling skills, eating behavior, and an unbalanced diet were lower in the disabled children compared with those in the non-disabled children. Dietary behavior scores were not significantly different by either gender or age in the disabled children. Mean energy intake was less than the estimated energy requirement in both groups. Nutrients taken at less than the recommended intake level were calcium, iron, vitamin A, and folate in both groups. Food behavior score at mealtime, personal hygiene score at mealtime, and an unbalanced diet score were significantly correlated with iron and vitamin A intake in disabled male children. Personal hygiene score at mealtime was significantly correlated with calcium, iron, and vitamin A intake, and unbalanced diet score was significantly correlated with iron and vitamin A intake in disabled female children. Although the nutritional status of disabled children with developmental disorders was appropriate in general, improvement in their dietary behaviors through education and practice would allow them to eat balanced diets with essential nutrients.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.2
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• pp.109-116
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• 2007

The objective of this review is to establish practice parameters for pharmacological treatment of children and adolescents with pervasive developmental disorders. We performed a detailed review of the literature, including a wide range of controlled clinical trials, open trials, case reports, and side-effect profiles of related drugs. Few medications have a treatment indication for pervasive developmental disorders, and few studies with well-controlled methodology are available for evaluating treatment results. Pharmacological treatments focus on associated target symptoms because symptom reduction may improve educational and social ability and enhance quality of life. Well-controlled trials have been conducted for some SSRI(selective serotonin reuptake inhibitor) antidepressants, risperidone, and methylphenidate, and showed reduction of some target symptoms. Since the medications are not specific to autism and do not treat core symptoms of the disorder, their potential side effects should be carefully considered. Family education is necessary to give proper information on target symptoms, limitation of drug treatments, and risks.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.2
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• pp.117-122
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• 2007

Practice parameters for non-pharmacological treatment of children and adolescents with pervasive developmental disorders are based on the scientific literature for evidence-based practices. Appropriate educational and behavioral interventions are important in improving the long-term outcome in pervasive developmental disorders. Early and sustained intervention appears to be particularly important. The goal for interventions is to gain pragmatic skills for verbal communication, playing with peers, daily living routines, self-management, and social adaptation. Appropriate involvement and collaboration with parents and family are essential for well-functioning intervention programs. The life-long nature of autism implies that the clinician should maintain an active role in long-term treatment planning and family support. Vocational training and training for more independent living are important for adolescents with autism. Professionals should be knowledgeable about local and national resources and opportunities for family support as well as support of the individual.