• Clinical and Experimental Pediatrics
• /
• v.52 no.2
• /
• pp.242-246
• /
• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

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

• Journal of Digital Convergence
• /
• v.11 no.6
• /
• pp.235-244
• /
• 2013

This research was performed to investigate the effects of participation in aqua exercise on blood composition and vascular compliance of mentally retarded persons. The targets of this research consisted of a control group of 12 people and an aqua exercise group of 12 people after selecting 24 mentally retarded males and aqua exercise group carried out an exercise program for 60 minutes per day and five days a week for 9 weeks. Weight, body fat percentage, blood composition and vascular compliance were measured in a preliminary inspection and the same items were measured in a post-inspection. The results of this measurement were as follows. Firstly, aqua exercise group showed a significant decrease in weight and body fat percentage (p<.05). Secondly, for blood composition, aqua exercise group showed a notable decrease in Total-Cholesterol, Triglyceride, and LDL-Cholesterol (p<.05) and a significant increase in HDL-Cholesterol (p<.05). Thirdly, aqua exercise group showed a notable increase in blood composition for both upper limbs and lower limbs (p<.05). Taken these results together, it was considered that a participation of mentally retarded persons in aqua exercise would prevent adult diseases and would have an affirmative influence on improvement of the quality of life.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.1
• /
• pp.19-25
• /
• 2004

Dentally disabled person means one who have difficulty in cooperating voluntarily with a dentist for routine dental care. Seoul National University Dental Hospital (SNUDH) Dental Clinic for Disabled has worked for them under outpatient anesthesia concept. The aim of this study was to determine the anesthetic characteristics of the patients attending for dental treatment at SNUDH Dental Clinic for Disabled in order to establish better future treatment plans. The data were drawn from the patients who visited SNUDH Dental Clinic for Disabled from January 1999 to October 2002. Total 93 dental treatments for 83 patients were enrolled in this study. Most patients had mental retardation and the conservative treatments were carried out under general anesthesia. Thiopental and vecuronium were mostly used for induction agent and neuromuscular blocker, respectively. Enflurane, with oxygen and nitrous oxide, was mostly used to maintain the anesthesia. Mean total anesthetic time was $164.4{\pm}57.2$ minutes and mean duration at the post-anesthetic care unit was $106.2{\pm}50.5$ min. Serious postoperative complications were not observed. These results showed our successful anesthetic outcomes without any severe side effect or complication and the needs of more outpatient centers for dental care for disabled.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.35 no.4
• /
• pp.725-730
• /
• 2008

Nevoid basal cell carcinoma syndrome is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. The syndrome is an autosomal dominant inherited, with a high penetration and visible expression. The syndrome is characterized by a series of associated anomalies such as cutaneous, dentofacial, skeletal, ophthalmologic, neurological, and genital anomalies. Generally, the jaw cysts are multiple odontogenic keratocysts, affecting any area of maxilla and mandible. Multiple odontogenic keratocysts of this syndrome are more recurrent than the keratocysts of non-syndrome, thus they are treated aggressively for complete removal. We report a case of multiple jaw cysts associated with nevoid basal cell carcinoma syndrome. In clinical and radiological examinations, frontal bossing, hypertelorism, mild mental retardation and two odontogenic keratocysts in both the maxilla and mandible were observed. Two cysts were treated by marsupialization. For the management of eruption of unerupted teeth, periodic recall check and orthodontic treatment are required.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.38 no.3
• /
• pp.284-289
• /
• 2011

Lesch-Nyhan syndrome is a disease caused by metabolic disorder of purine. General muscle stiffness and hyposomia are shown from infancy and symptoms can include involuntary or irregular movements of arms and legs, mental retardation, and compulsive self-mutilating behaviors. Self-mutilating behaviors begin at approximately the first year or sometimes at late teens. The patients bite their lips, especially lower lip, tongue, buccal mucosa, hands and fingers. Tongue and lips can be injured or mutilated in severe cases. As the patient gets older, self-mutilating behaviors become more serious and extensive and secondary infection of injured areas is possible. Periodic soft tissue damage due to self-mutilating may evolve to cancer. Medical treatment, appliance treatment, extraction of tooth and surgical operation was attempted to control self-mutilaing behaviors. We hereby report the case of child Lesch-Nyhan syndrome patient who has self-inflicted labial damage as chief complaint. When patient was treated with conservate therapy, such as removable or fixed appliance, the frequency of labial damage could be subdued and yielded favorable results.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.35 no.3
• /
• pp.532-538
• /
• 2008

Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence or decrease in activity of hypoxanthine guanine phosphoribosyl transferase(HPRT), an enzyme involved in purine metabolism. This enzyme deficiency gives rise to nephropathy symptoms, such as hyperuricosuria and hyperuricemia by excessive uric acid production and neuropathy symptoms, such as mental retardation, choreoathetosis and self mutilation behavior. Patients with Lesch-Nyhan syndrome have tendency to bite their lip, tongue and finger. In severe cases, partial or even total amputation of tongue or finger occur. Self-inflicted bites are often complicated by secondary infection to the injured site as well as pain. Furthermore tissue loss by biting results in esthetic problems. The dental management of self mutilation includes treatment with appliances such as soft mouth guard or lip bumper, extraction of all the teeth, and orthognathic surgery. We report a case of a 13 year-old boy with Lesch-Nyhan syndrome, who severely injured himself on his tongue. At first, conservative treatment using soft mouth guard was considered, but it could not prevent trauma on his tongue. Therefore, extraction of the lower anterior and posterior teeth was carried out.

• The Journal of the Korea Contents Association
• /
• v.14 no.10
• /
• pp.818-828
• /
• 2014

The purpose of this study was to investigate targets to use measurement tools to communicate developed in Korea and factors consisting of questions, to examine how measurement tools to communicate applied for AAC subjects were. In the case of measuring language and communication skills targeting people with disabilities, aphasia was out of common, in the case of applying to different types of failures, it showed rare. While factors consisting of questions on measurement tools to communicate had many factors on communication limitations and many factors on impairments in body functions that limit communication, they didn't have a lot of factors on restrictions in participation caused by communication limitations and lots of environmental factors that serve as barriers or facilitators for communication. AAC intervention was applied in the order of physical disabilities, autistic disorder, mental retardation, developmental disabilities, communication disorders, although "PPVT-R", "REVT" were widely used as measurement tools to communicate used in AAC intervention experiment, there were much more cases of relying on observation than standardized tools. Based on the results, we discussed that the need of evaluating to provide ACC application and individualized education(IEP)'s grounds and the research on evaluation criteria and measurement questions should be tried.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.10 no.1
• /
• pp.43-49
• /
• 1999

Objectives：One of the most common developmental problems is communication disorder in which a child appears normal in every way but who has failed to begin speaking or speaks very little. A few studies have examined the temperamental characteristics of children with communication disorders. This study was to investigate the temperamental characteristics of Korean children with communication disorders. Methods：The parents of 20 Korean children with communication disorders and the parents of 50 normal control children, the age of both groups ranges from 3 to 7, completed Korean version of Parental Temperamental Questionnaire developed by Thomas and Chess. Children with a pervasive developmental disorder, mental retardation, or speech-motor or sensory deficit were excluded. The scores of each temperamental scale of two groups and the diagnostic clusters of two groups were compared. Results：The children with communication disorders were characterized by lower mood scores and higher intensity of reaction scores than normal controls. The two groups showed no significant correlation in terms of the temperamental diagnostic clusters. Conclusion：This findings suggest the existence of a distinct temperamental profile of the children with communication disorders. Early detection of the profile may be of great value for parents in understanding the developmental characteristics of the children with communication disorders and in providing appropriate parenting approaches.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.2
• /
• pp.78-86
• /
• 2015

Purpose: Homocystinuria (OMIM#236200) is a metabolic disease caused by mutation in the CBS gene. This study was conducted to identify the clinical features and prognosis of homocystinuria as well as to find out the CBS gene mutations of the six homocystinuria patients who were receiving treatment in the Pediatric Department at Soonchunhyang University Hospital. Methods: From January 1992 to March 2015, clinical, biochemical, and genetic analyses were performed retrospectively on the six patients diagnosed with classic homocystinuria at Soonchunhyang University Hospital. Results: A total of six patients were included in this study, including three who were diagnosed with homocystinuria at the mean age of $50{\pm}22.5$ days based on their abnormal newborn screening test results. The other three were diagnosed at the mean age of 7, when they visited the hospital for evaluation of developmental delay and lens dislocation. The group diagnosed at early infancy had normal cognitive function, but the other group had varying degrees of mental retardation. Major complications were found only in the group diagnosed after infancy. CBS gene mutation was found in all the patients, and they were all non-responsive to vitamin B6 treatment. At present, all patients' diets are controlled following a methionine-free formula and they are on medication with folic acid, betaine, pyridoxine, and methylcobalamin. Conclusion: Six homocystinuria patients were monitored for up to 23 years. The group diagnosed at early infancy exhibited no major complications. Therefore, early diagnosis is crucial in the prognosis, and homocystinuria must be included in the newborn screening program.