• Journal of Genetic Medicine
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• v.4 no.2
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• pp.196-199
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• 2007

Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our pediatric clinic for his developmental delay and seizure with fever. The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia. The boy also showed finger tapering and puffy hand. Hypotonia, hyperextensible fingers and hypermobility of the joint were seen. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. We report a case of Coffin-Lowry syndrome with reference.

• Child Health Nursing Research
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• v.3 no.1
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• pp.42-51
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• 1997

Although a family-centered approach to health care for developmentally disabled children has been advocated, existing systems of care have not adequately addressed the support needs of the family system and the essential role that parents play in the daily care of these children. The overall purpose of this research is to examine family system adaptation to the care of a developmetally disabled child using the Resiliency Model of Family Stress, Adjustement, and Adaptation Framework. Relationships among family system demands (stressors, strains, transitions, child's illness factors) and family system strengths and capabilities(resource of social support) were examined to determine their separate and combined contribution to explanining the variability in family system outcomes (family system coping ). The subject for this study was 46 families who have a child with developmental disabilities(mental retardation and / or autism) from three special educational programs in Seoul, Korea. Results from correlation and hierachial regression analysis revealed that perceived social support operated as a resiliency factor between family stress and coping. Child and family characteristics appeared to be important predictors of perceived social support and coping. In summary, there is evidence that the resource of social support as a family strength and capability was found to improve the family coping. These findings also must be viewed within the context that sample of families of children with disabilities was relatively small and eligible families from support group of special educational program.

• Tuberculosis and Respiratory Diseases
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• v.39 no.5
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• pp.433-437
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• 1992

Tuberous sclerosis is a syndrome characterized by the facial skin lesion, epilepsy, and mental retardation. Pulmonary involvement is uncommon, but when the lung is involved by tuberous sclerosis it shows characteristic reticulonodular infiltration and cystic changes. We experienced a 34-year-old female patient of known tuberous sclerosis admitted due to pneumothorax. Chest PA showed diffuse fine reticulonodular infiltration and chest CT revealed diffuse cystic changes of the lung. Pleurodesis with tetracycline was done to prevent recurrence, but chylothorax occurred four months after the treatment. Pleurosis was tried again and anti estrogen treatment began.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.1-6
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• 2008

This study describes the characteristics of patient receiving comprehensive dental treatment under general anesthesia at the pediatric dentistry of Chosun University dental hospital in Gwangju, between August 2004 and March 2008. The conclusion runs as follows : 1. Most patients(64.8%) were young (under 10 years of age) and mean age was 8.6 years. 2. The primary reason(31.1%) why they chose general anesthesia was lack of child's cooperation (normal but unmanageable). Following in order are mental retardation, Autism and cerebral palsy etc. 3. Resin restorations were performed most frequently(87.8%) followed by pulp treatment, preformed crown, extraction and sealant. 4. It takes 3 hours 10 minutes for general anesthesia on the average. The mean treatment time under general anesthesia was 2 hours 52 minutes. 5. 29 children(39.7%) visited again after general anesthesia for recall check.

• Journal of Korean Public Health Nursing
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• v.21 no.2
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• pp.206-216
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• 2007

Purpose: The purpose of this study was to investigate the perceived social support of mothers with disabled children. Method: This study was a cross-sectional, descriptive study using a questionnaire survey which included the standardized measure: personal resource Questionnaire 2000. Results: The participants were 98 mothers, each with one with disabled children. Of the 98 participant's children, 39.8% suffered mental retardation, 34.7% was developmentally disability, 16.3% was brain diseases and 9.2% was multiple disabled. The mean age of the disabled children was 8.2 years and of their mothers was 38 years. The order of the life events for which the need help for the subjects required help were 'when anger and frustration arise happened', 'difficulties in human relationship' and 'emergency situations'. The personal resources were spouse (38.1%), friends (20.9%) and parent (12.9%). The mean score of perceived social support was 5.48 out of a total of 7, indicating a slightly high on social support score. Significant differences were found in the level of perceived social support according to the school grade of disabled child's school grade (F=4.04, p= .02) and the mother having a job presence of mothers (t=2.49, p= .01). Conclusion: These findings indicate a need for nursing intervention programs for mothers with disabled children, including anger management, methods of human relationship, support for leisure time and long term illness and providing information.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.1
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• pp.60-64
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• 2008

Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.1
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• pp.84-88
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• 2008

If multiple magnets are ingested, the potential exists for the magnets attracting one another across the gastrointestinal tract and inducing pressure necrosis, perforation, fistula formation, or intestinal obstruction. We report the case of a 12-year-old boy who suffered from a fistulous communication between the lesser curvature of the mid-body of the stomach and the duodenal bulb, caused by 4 ingested magnets (Singing Magnets, China). The patient presented with moderate mental retardation, a one-year history of cyclic vomiting, and abdominal discomfort. We present the findings of simple abdominal radiography, esophagogastroduodenoscopy, computed tomography, and upper gastrointestinal series. An emergency exploratory laparotomy was performed, which revealed a gastroduodenal fistula. Fistula repair and the removal of 4 magnetic toys were subsequently performed. We emphasize that clinicians who care for children should be aware of the hazards of magnetic toy ingestion.

• Korean Journal of Clinical Laboratory Science
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• v.42 no.2
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• pp.97-102
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• 2010

The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.

• Journal of Korean Physical Therapy Science
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• v.15 no.2
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• pp.79-86
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• 2008

Background: The purpose of this study was to present a practical method of medical treatment to improve the balance and motor ability of the mentally retarded child with a single mentally retarded child-subject. Methods: The subject of the study was a 39-month-old mentally retarded female. This study included a 2-week basic period and a 13-week treatment period. The treatment method was based on the Bobath Approach. Gross motor function measurement (GMFM) was used to examine changes in motor ability, and the Pediatric Balance Scale (PBS) was used to measure changes in balance ability. The curative program was composed of normalization of muscle tone, strengthening of leg endurance and muscular strength, the improvement of trunk alignment, and the increase of balance. Visual rate of change was used to examine the results. Results: As a result of this study, balance ability increased on the Pediatric Balance Scale (PBS) by 24 points, and motor function increased in terms of Gross Motor Function Measurement (GMFM) by 6.9% (18 points). Standing increased by 41% (16 points), and walking, running, and jumping increased by 31.9% (23 points) compared to thebasic period. Therefore, the Bobath Approach appears to be an appropriate method to improve balance and motor ability in mentally retarded children. Conclusion: It is surmised that aggressive intervention by physical therapists and occupational therapists, and a follow-up study, are required for the growth of motor ability in mentally retarded children.