• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.2
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• pp.306-311
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• 2005

Lesch-Nyhan syndrome is a rare disorder of purine metabolism, first described in 1964. The incidence is estimated to be 1:100,000 birth. It is an X-linked recessive disorder in which affected males have a virtually complete deficiency of the enzyme hypoxanthine guanine phosphorybosyl transferase(HGPT). This enzyme deficiency gives rise to excessive uric acid production and consequent hyperuricemia. Lesch-Nyhan syndrome is clinically characterized by mental retardation, choreoathetosis, spastic cerebral palsy, and severe self-mutilation behavior. Patient with Lesch-Nyhan syndrome mostly bite their lip, tongue and finger. In severe cases, partial or total amputation of the lip and tongue is common. Self-inflicted bites are often further complicated by secondary infection to injuried site as well as pain. And tissue loss by biting results in esthetic problems. This report presents a Lesch-Nyhan syndrome patient with self-mutilation, who have a destruction of perioral tissue, especially the lower lip. He was treated successfully with soft mouthguard, psychological and pharmacological method.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.3 no.1
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• pp.147-157
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• 1992

The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.65-69
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• 2019

Wolf-Hirschhorn syndrome(WHS) is a congenital disorder caused by deletions of the short arm of chromosome 4. The most common characteristics are mental and growth retardation, dietary disorder and craniofacial features with a characteristic 'Greek warrior helmet' appearance. The dental characteristic of WHS includes delayed development, tooth agenesis, clefts, microdontia, taurodontism, and severely worn dentition. The purpose of this case report is to describe the dental treatment of a patient with WHS. 3-year-old boy with WHS visited the Seoul National University Dental Hospital for dental treatment. He had difficulty with nasotracheal intubation because of craniofacial anomalies and also had poor oral hygiene due to a limitation of mouth opening and dietary disorder. Due to his airway problem, behavior management and severity of dental conditions, dental treatment was performed under general anesthesia. This case suggests general anesthesia can be chosen with WolfHirschhorn syndrome patients to safely care for their dental problems.

• KSCE Journal of Civil and Environmental Engineering Research
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• v.33 no.1
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• pp.305-316
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• 2013

To find out if modern roundabout is still effective under drivers behavior and driving conditions in Busan Metropolitan City, the effects before and after introduction of roundabout were analyzed. According to analysis on velocity profile at roundabout, velocity deviation decreased, and average vehicle speed was close to design speed. As a result, it has been confirmed that most roundabouts were properly built. In terms of traffic operation, average vehicle speed improved by 87.2% when a traffic intersection was replaced by a roundabout. therefore, it has been found out that the introduction of roundabout has a positive effect on increasing vehicle speed by reducing traffic congestion. In addition, annual benefits expected from the replacement from a traffic intersection to a roundabout were KRW 872 million as follows; KRW 410 million in traffic communication, KRW 39 million in transportation safety, KRW 255 million in energy saving, KRW 95 million in reduction of air pollution and KRW 73 million in reduction of traffic signal installation cost. In other words, if 10% (193 spots) of all traffic intersections (1,926 spots in total) in Busan City are replaced by roundabouts, the municipal authority would be able to save about KRW 168.3 billion. According to analysis on the benefits expected from the installation of roundabouts compared to the investment cost for traffic intersections, about KRW 679 million could be saved per roundabout. Considering 10% of all traffic intersections in the City of Busan, about KRW 131 billion could be saved annually. The traffic accidents in roundabout usually occur because drivers aren't aware of right-of-way rules. Once the right-of-way rules settle, the number of traffic accidents would significantly decrease. In addition, it is urgent to promote education and campaign for drivers, pedestrians and bikers on the roundabout.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.2
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• pp.145-157
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• 1999

This study was performed by the children and adolescents who were abused or neglected physically, emotionally that were selected in child & adolescents psychiatric ward. We investigated the number of these case in admitted children & adolescents, and also observed characteristics of symptoms, developmental history, characteristics of abuse style, characteristics of abusers, family dynamics and psychopathology. We hypothesized that all kinds of abuse will influnced to emotional, behavioral problems, developmental courses on victims, interactive effects on family dynamics and psychopathology. That subjects were 22 persons of victims who be determined by clinical observation and clinical note. The results of the study were as follows：1) Demographic characteristics of victims：ratio of sex was 1：6.3(male：female), mean age was $11.1{\pm}2.5$. According to birth order, lst was 12(54.5%), 2nd was 5(23%), 3rd was 2(9%) and only child was 3(13.5%). 2) Characteristics of family：According to socioeconomic status, middle to high class was 3(13.5%), middle one was 9(41.% ), middle to low one was 9(41%), low one was 1(0.5%). according to number of family, under the 3 person was 3(13.5%), 4-5 was 17(77.5%), 6-7 was 2(9%). according to marital status of parents, divorce or seperation were 5(23%), remarriage 2(9%), severe marital discord was 19(86.5%). In father, antisocial behavior was 7(32%), alcohol dependence was 10(45.5%). In mother, alcohol abuse was 5(23%), depression was 17(77.3%), history of psychiatric management was 6(27%). 3) Characteristics of abuse：Physical abuse was 18(81.8%), physical and emotional abuse and neglect were 4(18.2%). according to onset of abuse, before 3 years was 15(54.5%), 3-6 years was 5(27.5%), schooler was 1(15%). Only father offender was 2(19%), only mother offender was 8(35.4%), both offender was 8(35.4%), accompaning with spouse abuse was 7(27%), and accompaning with other sibling abuse was 4(18.2%). 4) General characteristics and developmental history of victims：Unwanted baby was 12(54.5%), developmental delay before abuse was9(41%), comorbid developmental disorder was 15(68%). there were 6(27.5%) who didn‘t show definite sign of developmental delay before abuse. 5) Main diagnosis and comorbid diagnosis：According to main diagnosis, conduct disorder 6(27.3%), borderline child 5(23%), depression4(18%), attention deficit hyperactivity disorder(ADHD) 4(18%), pervasive developmental disorder not otherwise specified 2(9%), selective mutism 1(5%). According to comorbid diagnosis, ADHD, borderline intelligence, mental retardation, learning disorder, developmental language disorder, oppositional defiant disorder, chronic tic disorder, functional enuresis and encoporesis, anxiety disorder, dissociative disorder, personality disorder due to medical condition. 5) Course of treatment：A mean duration of admission was $2.4{\pm}1.5$ months. 11(15%) showed improvement of symtoms, however 11(50%) was not changed of symtoms.