• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.4
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• pp.209-213
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• 2014

Purpose: Pathologic aerophagia (PA) may lead to bowel perforation or volvulus in mentally retarded patients. The authors investigated the effects of clonazepam on the management of PA in children with severe to profound mental retardation (MR). Methods: This study was undertaken as a retrospective case analysis of 21 PA patients with MR who were followed for over 12 months and diagnosed as having PA. Patients were assigned to two management groups, that is, to a clonazepam randomized open-labeled, treatment group or a reassurance group. The following were recorded and analyzed; age, response, remission rate to clonazepam treatment, and the side effect of clonazepam. It was defined positive response (response+) as being symptom-free for a whole week within 1 month of commencing treatment and remission(+) as being symptom-free for a whole month within 6 months of treatment. Results: The average age of the 21 PA children with MR was 10 years and 13 patients were female. Symptom duration before diagnosis of PA was 7 months. Clinical features of the clonazepam-trial group (n=11) and the reassurance group (n=10) were non-significantly different. Response(+) was achieved by 2 patients (18.2%) in the clonazepamtrial group and by no patient in the reassurance group. Remission(+) was achieved by 6 patients (54.5%) in the clonazepam-trial group and by one patient (10%) in the reassurance group (p=0.040). Conclusion: When PA children with MR with severe bowel distention are considered for surgical treatment to prevent acute abdomen, a trial of clonazepam could be recommended.

• Clinical and Experimental Pediatrics
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• v.56 no.8
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• pp.355-358
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• 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs$^*34$). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• The Journal of the Korea Contents Association
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• v.18 no.10
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• pp.335-347
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• 2018

The purpose of this study was to find more effective mental health intervention for school based intervention with mental health problem in an elementary school. A systematic review was conducted according to the PRISMA checklist. We accessed databases including RISS, KISS, and the National Assembly Library of Korea. Subject studies were classified according to type of intervention, subject characteristic, and evaluation. Finally, twenty-five studies matched the inclusion criteria. According to types of intervention, it was classified into four types which are psychoeducation(self-management skills, social skills, social emotional learn ing), behavior intervention(positive behavior support, modeling), psychotherapy(art therapy, counseling and parent coaching), and recreation intervention(robot intervention, horticultural therapy). The most of subjects were intellectual disability, the following subjects were ADHD. The most areas of evaluation were emotional change and attention. The findings of this review support school based intervention and provide evidence. And it can be used as an important basic data for preparing more effective mental health-related school-based interventions.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.40 no.3
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• pp.135-139
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• 2014

This following case report describes the open reduction, internal fixation and the reconstruction of an extensive comminuted mandibular fracture with bilateral condylar fractures in a 19-year-old male patient with an intellectual disability and autistic disorder. He suffered fall trauma, resulting in shattered bony fragments of the alveolus and mandibular body between both mandibular rami, the fracture of both condyles and the avulsion or dislocation of every posterior tooth of the mandible. The patient underwent open reduction and internal fixation between both mandibular rami using a reconstruction plate, open reduction and internal fixation of the shattered fragments using miniplates and screws, and the closed reduction of the bilateral condylar fractures.

• Journal of Music and Human Behavior
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• v.6 no.2
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• pp.25-41
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• 2009

The purpose of this case study is to examine how group rhythmic playing can help enhance imitation skills for 3 children with developmental disabilities aged between 30-50 months. The program was composed of social musical play, the therapist's imitating the way young children played musical instruments, and the young children's imitating the way the therapist played musical instruments. Every session was videotaped, and the researcher and two music therapists checked the videotaped sessions to ensure the reliability of findings. The case study demonstrated the following results. First, the three young children who participated in the playing of rhythmic musical instruments showed an increase in imitation behaviors. Second, the infants exhibited the greatest change from 1 beat imitation according to the degree of difficulty of group rhythm musical instrument demonstrated. Third, the most radical change in the infants' ability to imitate appeared in Sessions 3-7 where the therapist imitated the operation and a performance of the infant. In conclusion, the activity of playing rhythmic musical instruments in a group generated improvement in the imitation ability of young children with developmental disabilities.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.2
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• pp.170-175
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• 2014

The growth disorder influences craniofacial development and early loss of permanent teeth. This case reports the importance of computerized tomography (CT) and surgical guide to identify horizontal bone loss, adjacent teeth and to guide drills when placing implants in a short stature patient. The patient has idiopathic short stature and the 3rd grade of intellectual disability. To recover posterior mandibular teeth, implant treatment was planned. CT images showed that the adjacent teeth were located markedly to the buccal side. A CT-based surgical guide was fabricated and implants was placed using flapless surgery. Bone dehiscence and fenestration may happen when the surgical guide was fabricated just based on adjacent clinical crowns. Thus, it is essential to analysis bone and teeth and to make surgical guide through CT, especially in atrophied bone on grow disorder patients. Furthermore, systematic researches are recommended to elucidate the relationship between growth disorder and tooth malposition.

• Journal of the Korea Convergence Society
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• v.7 no.2
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• pp.53-59
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• 2016

Epilepsy is a neurological disease characterized by recurrent seizures. Though the exact causes for epilepsy are unknown, genetic mutations, especially altered gene functions, have been implicated as key causative components of epilepsy. We recently identified a causing gene for the Miles-Carpenter syndrome (MCS). MCS patients have intellectual disability and epilepsy. MCS knockout (KO) zebrafish also show a seizure-like phenotype with hyperactivity of pectoral fin and jaw movement, resulting from loss of GABAergic interneurons. To evaluate MCS KO zebrafish as an epilepsy model, we tested the effects of retigabine, an anticonvulsant drug, on the movement of MCS KO zebrafish.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.111-118
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• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.