• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.3
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• pp.624-629
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• 2008

Effects of Kyungohkgo Ga Nokyong(Yongohkgo) on growth development and learning ability were investigated growth and intellectual impairment rat with insufficient nutrition diet. We divided male Sprague-Dawley rats into 4 groups. They were Normal group, Growth deficiency rat with insufficient nutrition diet group, Growth deficiency rat with 0.1% Yongohkgo group and 0.2% Yongohkgo group. They were administered for 5 weeks. We measured body weight, and morris water maze test in escape distance, escape time and escape speed, serum growth hormone, insulin-like growth factor and thyroid stimulating hormone, RBC, concentration of Hb and PCV ratio, total WBC and its composition, the values of GOT and GPT activities. The results are as follows that Yongohkgo 0.1%, 0.2% groups were showed significantly different than control groups in body weight and the counts of RBC. In the morris water maze test, in escape distance and escape time, in concentration of Hb and PCV ratio, 0.2% Yongohkgo group were significantly different than control groups. Serum growth hormone, insulin- like growth factor and thyroid stimulating hormone showed a tendency to increase in Yongohkgo groups. The counts of total WBC and its composition, GOT, GPT activities showed no significantly different in all treatment groups. These results suggested that Yongohkgo have an effect of promoting growth and learning ability of rats and might be effect to treat various kinds of growth and learning ability delay in children.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.13-17
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• 2018

Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.

• Journal of The Korean Society of Integrative Medicine
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• v.7 no.1
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• pp.37-45
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• 2019

Purpose : The aim of this study was to investigate the differences in sociodemographic characteristics, instrumental activities of daily living (IADL), and healthcare needs among disabled persons with and without language disorder. Methods : Using raw data from the National Survey of the Disabled Person (2017), this study compared 6,320 disabled persons without language disorder and 229 disabled person with language disorder among 6,549 persons with disabilities. The dependent variables included sociodemographic characteristics, IADL, and healthcare needs. Results : People with language disorder were younger (p<.001), illiterate (p<.001), and had higher family income (p=.003) than people without language disorder. In addition, people with language disorder had a higher disability grade than people without language disorder (p<.001), and the percentages of brain injury, hearing impairment, and intellectual disability were higher among type of disability (p<.001). People with language disorder showed significantly higher dependence on all items of IADL than people without language disorder (p<.001). As the first-ranked healthcare need, people without language disorder had the highest percentage of "chronic illness management," and people with language disorder had the highest percentage of "disability management" (p<.001). Conclusion : The findings of the current investigation suggest that health care services are needed to improve IADL in people with language disorder and that the development of a disability management program for people with language disorder is required.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.1
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• pp.71-78
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• 2001

Objectives：Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods：1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results：1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion：There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.1
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• pp.10-15
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• 2007

Probably the three most important components to a comprehensive evaluation of patients with attention-deficit hyperactivity disorder (ADHD) are the clinical interview, the medical examination, and the completion and scoring or behavior rating scales. Teachers and other school personnel are often the first to recognize that a child or adolescent might have ADHD, and often play an important role in the help-seeking/referral process. A diagnostic evaluation for ADHD should include questions about ADHD symptoms, other problems including alcohol and drug use, family history of ADHD, prior evaluation and treatment for ADHD. Screening interview or rating scales as well as interviews should be used. When it is feasible, clinicians may wish to supplement these components of the evaluation with objective assessments of the ADHD symptoms, such as psychological tests. These tests are not essential to reaching a diagnosis, however, or to treatment planning, but they may yield further information about the presence and severity of cognitive impairments that could be associated with some cases of ADHD. Screening for intellectual ability and academic achievement skills is also important in determining the presence of comorbid developmental delay or loaming disabilities. The number and type of symptoms required for a diagnosis of ADHD vary depending on the specific subtype. To receive a diagnosis of ADHD, the person must be experiencing significant distress or impairment in daily functioning, and must not meet criteria for other mental disorders which might better account for the observed symptoms such as mental retardation, autism or other pervasive developmental disorders, mood disorders, anxiety disorders. This report aims to suggest a practice guideline of assessment and diagnosis for children and adolescents with ADHD in Korea.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.80-85
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• 2017

Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.11-15
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• 2016

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, and speech impairment. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking swallowing disorder, and excessive chewing behavior. A 3-year-6-month old girl with Angelman syndrome was scheduled for dental treatment. She had multiple caries, but she was poorly cooperative for treatment due to developmental delay and movement disorder, so general anesthesia was considered. The patient with Angelman syndrome was successfully treated under general anesthesia. There were no postoperative complications related to anesthesia and dental treatment. When treating children with this syndrome, the dentist needs to manage their uncooperative behavior and medical problem.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.1
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• pp.23-26
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• 2009

Mental retardation is defined by the American Psychiatric Association as" subnormal general intellectual functioning which originates during the developmental period and is associated with impairment of either learning and social adjustment or maturation, or both." A patient with mild to moderate mental retardation can be managed adequately using restraints and medications. However, in case of severe or profound mental disability, dental treatment cannot be accomplished even with the use of behavior modification, physical restraints and sedation techniques. When treatment in the dental office has much difficulty, hospitalization for dental treatment under general anesthesia can and should be considered. This case presents the treatment of a patient with mental retardation who was referred to our department for comprehensive dental care. Dental examination revealed widespread dental caries and a severe anterior open bite with crowding problems. Under general anesthesia, generalized caries treatment was performed by our department, and the anterior dental esthetics was achieved in collaboration with the department of prosthodontic dentistry.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.