• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.341-347
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• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

• Herbal Formula Science
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• v.25 no.2
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• pp.223-251
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• 2017

Objectives : A lot of experiment results of Yugmijihwangtang(YM) are reported in various kinds of journals. Many of them report on the new effects that are not recorded in the traditional medical texts. So it is necessary to take it into consideration that newly reported effects could be of help to clinical practice, because this process of comparison of Donguibogam and scientific experiment results will have basis to lead into the evidence based medicine. Methods : We compared the effects of in Donguibogam and the experiment results of YM. Results : The effects of YM in Donguibogam are to replenish essence and marrow, and to treat red wen, fatigue, treat hypouresis, urinary sediment, urinary urgency, hematuria, hydrocephalus, speech and movement retardation, yin-deficiency, diabetes mellitus, nonalcoholic fatty liver, melanoma, disability to see near and far sight, tinnitus, hearing loss, alopecia, angiogenesis, cough, cough at night, trachyphonia, and, infantile convulsion. The experiment results of YM since 2000 in both Korea and China are to inhibit atopic dermatitis, renal interstitial fibrosis, anti-oxidant, emphysema, stress, glomerulosclerosis, diabetic nephropathy, chronic glomerulonephritis, hemorrhage, plantar sweating, dermal aging, kidney aging, bone loss, breast cancer, pathological myocardial cell, primary liver cancer, thrombosis, osteoporosis, intrauterine growth retardation, chronic renal failure, IgA nepropathy, slow cerebral development, and hippocampal tissue lesions on the one hand, and to help bone formation, renin-angiotensin- aldosterone system, cerebral recovery, cognitive function and expression, osteoblast proliferation and differentiation, learning and memory, cold-tolerance and oxygen deficit-tolerance and anti-fatigue, endometrial formation, humoral and cell-mediated immunity, immune regulation effect, Hypothalamus-Pituitary-Ovary Axis, and spermatogenesis, on the other hand. Conclusion : When we compared the effects of YM with the experiment results of YM, there existed a considerable gap between them. So, from now on, it is expected that a great effort and consideration are needed to solve these gaps from an academic and clinical point of view.

• Journal of Yeungnam Medical Science
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• v.8 no.2
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• pp.24-34
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• 1991

Delayed emergence of speech or language are frequent causes for concern about development during early childhood. Dealy in evaluation and proper management until school entry in more likely to result in frustration, anxiety and school failure. Many language disturbances and their attendant behavior disorders respond to intensive language therapy. Authors analyzed the medical recoreds of 52 children with delayed language development evaluated during 30 months from January 1986 through June 1988. The results were as follows : 1. The majority of cases were evaluated at the age of 2-2.9 year old(16 cases, 30.8%) and 3-3.9 year old(11 cases, 21.2%) 2. Male to female ratio was 3 : 1 3. The most common cause was mental retardation(53.8%), followed by developmental language disorder(23.1%) and autism(13.5%) 4. The most common associated condition was dysarticulation(17.3%), followed by strabismus(9.6%) and seizures(7.7%) 5. Special education was recommended in cases of 23(44.2%), speech therapy in 12 cases(23.1%) and consultation to child psychiatry in 7 cases (13.5%). Making diagnosis of underlying disorders is not simple because assessment of intelligence in young children is difficult and only a few tests are standardized. More detailed study on children with delayed language development and development of psychometric tests for the handicapped children are necessary, especially in Korea.

• 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.5 no.2
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• pp.87-91
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• 2009

The purpose of this study were to investigate the chief complain and dental treatment needs in handicapped patient. This study examines treatment records of 1025 patients in free dental clinic for handicapped patients during 10 years from 1999 to 2008. The results were as follows : 5.8 average visit per patient; mean patient age was 25; 544 patients was younger than 20. Handicapped patients classified according to types of disability. Crippled disorder were 19.1%, brain disorder were 4.5%, visual disorder were 3.1%, auditory disorder were 4.1%, speech disorder were 0.9%, mental retardation were 67.1%, and developmental disorder were 25.1%. Performed treatments were 322 scaling, 13 fluoride varnish, 727 preventive resin restoration, 1296 resin restoration, 600 amalgam restoration, 46 GI restoration, 612 extraction, 289 pulp treatment of primary teeth, 75 pulp treatment of permanent teeth and 138 stainless steel crown restoration. Many handicapped patients have some difficulty to dental treatment. They have limited access to dental care, which is compounded by a shortage of skilled dental professionals who are willing to treat these population and financial problems.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.701-704
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• 2009

SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.540-544
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• 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.11 no.2
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• pp.58-61
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• 2015

The people with disabilities living in residential facilities have more difficulty in caring oral hygiene than those living at home. The purpose of this study is to evaluate the recent 2014 dental treatment records of free mobile dental clinic service for disabled people in Korea. 203 disabled living in residential facilities participated in mobile dental clinic. Patients classified according to types of disability. Mental retardation were 75.3%, mental disorder were 6.0%, crippled disorder were 7.4%, brain disorder were 6.5%, visual disorder were1.4%, auditory and speech disorder were 2.3% and autism disorder were 0.9%. Performed treatments were 99 scaling and curettage, 88 fluoride varnish and TBI, 4 extraction, 1 endodontic treatment, 16 caries control (resin filling, GI filling), 1 denture repair and 8 refuse the treatment. Free mobile dental clinic can not provide complex dental treatment. So, the organization should systemize advanced dental treatment and regular preventive programs. Furthermore, we need to have a more concerns about the people with disabilities living in residential facilities and constantly participate on a dental voluntary work.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.14-22
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• 1996

This study aims to look at main problems of visiting the clinic, diagnoses and other related factors of outpatients in a private psychiatric clinic f3r children and adolescents located in Seoul. The analyses were based on the reports of 2,785 patients who were 18 years old and less, and visited the clinic during last 4 years. The results showed that the ratio of boys to girls was 2.7 to 1, and about 64% of the whole sample were 6 years old and less. Especially the percentage of patients aged 3 and less was the highest and that of schoolage and more was gradually reduced. The average number of siblings was 195 and the percentage of the first child in a family was the highest. Particularly, there were more boys in rase of one child families and more girls in case of families with 3 children and more. The chief problems were mainly language-deficit, hyperactivity, autistic behaviour, tic, aggressive behavior and academic problem. The higher frequency of diagnoses was in the order of parent-child problem, mental retardation, developmental language disorder, reactive attachment disorder, other emotional disorder, and pervasive developmental disorder. The more frequently used method fir treatments was in the sequence of psychotherapy, play therapy, parental counseling, occupational therapy and speech therapy. The results from this study were compared with those from other studies and discussed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.2 no.1
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• pp.39-44
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• 2006

Cerebral palsy(CP) is one of the most common motor disease, due to brain injury during fetal and neonatal development which results in neuromotor paralysis and associated neuromuscular symptoms. Features of CP include motor disability due to the lack of muscle control, often accompanied by sensory disorders, mental retardation, speech disorders, hearing loss, epilepsy, behavior disorders, etc. There are increasing chances of treatment of dental patients with cerebral palsy, as the occurrence of CP is increasing with the decrease in infant mortality and an increase in immature birth and premature birth and also, there is a trend to pursue of higher quality of life. Reports on the relationship between CP and maxillofacial deformity are uncommon, but it is well known that the unbalance and discontrol of the facial muscles, lip, tongue and the jaws leads to malocclusion and temporomandibular joint disorders, and statistics show that class 2 relationship of the jaws and open bite is frequently reported. However, it is difficult to perform maxillofacial deformity treatment, which consists of orthodontic treatment, maxillofacial surgery and muscle adaptation training, due to difficulties in communication and problems of muscle adaptation caused by difficulties in motor control which leads to a high recurrence rate. This case report is to trearment of maxillofacial deformity in CP patient. A 26 year old female patient came to the department with the chief complaint of prognathism of the mandible and facial asymmetry. According to the past medical history, she was diagnosed as cerebral palsy 1 week after birth, classified as GMFC, classII accompanied with left side torticollis. The patient's intelligence was moderate, and there were no serious problems in communication. For two years time, the patient underwent lingual frenectomy, pre-operation orthodontic treatment and then bimaxillary orthognathic surgery to treat mandibular prognathism and facial asymmetry followed by rehabilitatory exercise of facial muscle. After 6 months of follow up, there was a good result. This is to report to the typical signs and symptoms of DFD in CP patient and the limitation of the usual method of the treatment of DFD in CP patient with literature review.