• Korean Journal of Biological Psychiatry
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• v.9 no.2
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• pp.103-111
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• 2002

Neurocognitive research focusing on cognitive deficits in Depression has resulted in several important but yet potentially contradictory findings. Much literature documents the presence of significant neurocognitive impairments in depressive patients. Studies have shown that dysthymic disorder patients demonstrate a diffuse pattern of cognitive impairment which is frequently indistinguishable from that of focal braindamaged patients. Some reports have suggested that there is a focal pattern of deficit, such as anterior cingulate dysfunction, frontal lobe impairment, or dysfunction of the temporal-limbic cortex. The aim of this study is to evaluate the neurocognitive functions in dysthymic disorder patients, and to compare the functions with those of major depressive disorder patients. The subjects are 17 dysthymic disorder patients. And their neurocognitive functions are compared with those of 23 major depressive episode patients. Patients with a history of neurologic disease, alcohol dependence, substance abuse and mental retardation are excluded. They are assessed with a part of Vienna Test System which is computerized neurocognitive function tests and can evaluate attention, eductive ability, reproductive ability, visuoperceptual analysis, vigilance, visual immediate memory, the speed of information-processing, judgement, and fine motor coordinations. There are no other specific difference between two groups, except the result of cognitrone test. This study provides information about the neurocognitive functions and some difference between major depressive disorder patients and carefully diagnosed dysthymic disorder patients.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.267-271
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• 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.36-40
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• 2016

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.138-146
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• 2015

Purpose: If early diagnosis is not made, patients with metabolic disorders as homocystinemia rapidly progress to physical defect or mental retardation resulted in storage of the toxic material into the brain. Therefore, it is necessary to develop an analytical method for a rapid screening and/or correct confirmation diagnosis. Methods: The standard solution of sulfur amino acids spiked plasma was subjected to protein precipitation with methanol, and then consecutively derivatized with trimethylsilyl (TMS) and trifluoroacyl (TFA) and determined by GC-MS. The formation of TMS derivative of the hydroxyl and TFA derivative of amino functional group was performed by BSTFA and MBTFA, respectively. Selective ion monitoring (SIM) mode was used for quantification with selected specific ions. Results: A calibration curve on standard spiked pooled plasma showed a linear relationship with correlation coefficient of 0.9936-0.9992 for all compounds over the range of 0.1-300 ng. The precision and accuracy were within S.D. of 1-15% and RSD of 1-15% for intra-day assay at 2 ng/mL, 15 ng/mL and 30 ng/mL. LOD and LOQ was 0.4 ng/mL and 4 ng/mL respectively. Conclusion: A rapid analytical method was developed to quantify sulfur amino acids and methyl malonic acid, after two-step derivatization procedure with good sensitivity and specificity on human plasma. Advantages of a new method are simplicity and rapidity. The method could be useful for routine analysis, diagnosis of homocysteinemia.

• The Journal of Korean Physical Therapy
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• v.30 no.5
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• pp.193-198
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• 2018

Purpose: The purpose of this study was to analysis of effectiveness between cognitive function assessment scores and gaming cognitive rehabilitation system in children with intellectual impairment. Methods: Five children (male=5, $age=10.00{\pm}0.80$) with intellectual impairment participated in this study and were randomly assigned to the experiment that played (received) gaming cognitive rehabilitation system (Neuroworld). The children were applied 2 times a week for 30 minutes during 3 months. The children were assessed K-WSIC-VI (Korean-Wechsler intelligence scale for children-fourth edition) and recorded that gained score in gaming cognitive rehabilitation system before and after intervention. K-WSIC-VI contained five primary index scores: verbal comprehension index, visual spatial index, fluid reasoning index, working memory index, and processing speed index. Gaming cognitive rehabilitation system scoring was composed visual recall, target recall, sequence recall, selective attention, continuous attention, and exploration. Results: In the intelligence quotient (IQ) of K-WSIC-VI, there were significant increased in all children. The visual recall item was highest effective in all children. However, sequential recall showed the lowest improvement in all children. The performance speed of selective attention item was decreased, this means that children's skills have improved. Also, their ability to explore has improved significantly. Conclusion: In conclusion, gaming cognitive rehabilitation system was significant effectiveness in cognitive function in some categories for children with intellectual impairment. However, the visual recall and performance speed don't represent of all cognitive function. Therefore, further studies will need to verify by applying more subject and longer duration.

• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.2
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• pp.237-242
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• 2002

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney and nervous system, and occurs predominantly in mostly males. The patients with Lowe syndrome are characterized with prominent forehead, thin and sparse hair, protruding ears, congenital cataracts, glaucoma, mental retardation, stunted growth, hypotonia, decrease in muscle mass and tendon reflexes, renal tubular dysfunction, and metabolic bone disease. A 6-year-old boy with Lowe syndrome was admitted to our clinic, with multiple caries and a chief complaint of intermittent pain on the left mandibular molar area. Because of difficulty in management of behavior and his medical problem, general anesthesia was performed for dental care. No specific complication was noticed during dental treatment procedure under general anesthesia and also during periodic recall-checks. General anesthesia itself, however, could be a potentially life-threatening procedure due to patient's biomedical problems. When a dental procedure under general anesthesia is to be required in patient with Lowe syndrome, it may be advisable being teamed with physicians, and general anesthesia duration should be as short as possible.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.1
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• pp.68-74
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• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.4
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• pp.339-349
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• 2014

If the maxillomandibular relationship is unstable or requires treatment for improved function and esthetics, the first treatment objective is to provide stable occlusal contacts. The patient has moderate mental retardation. Due to inadequate vertical overjet, horizontal arch malrelation and excessive tooth loss, full mouth rehabilitation was required. The purpose of treatment planning is to establish physiologic maxillomandibular relation. Using cephalometrics for occlusal analysis is an aid to make a decision. The amount of horizontal bone reduction was calculated with evaluating soft tissue profile. After provisional denture placement, healing of the surgical site and newly adapted arch relationship was evaluated. The patient satisfied with esthetics and showed stable holding contacts. Periodic examination is needed to exclude occlusal disharmony.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.205-213
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• 2017

Background: This study retrospectively investigated outcomes following dental implantation in patients with special needs who required general anesthesia to enable treatment. Method: Patients underwent implant treatment under general anesthesia at the Clinic for the Disabled in Seoul National University Dental Hospital between January 2004 and June 2017. The study analyzed medical records and radiographs. Implant survival rates were calculated by applying criteria for success or failure. Results: Of 19 patients in the study, 8 were males and 11 were females, with a mean age of 32.9 years. The patients included 11 with mental retardation, 3 with autism, 2 with cerebral palsy, 2 with schizophrenia, and 1 with a brain disorder; 2 patients also had seizure disorders. All were incapable of oral self-care due to serious cognitive impairment and could not cooperate with normal dental treatment. A total of 27 rounds of general anesthesia and 1 round of intravenous sedation were performed for implant surgery. Implant placement was performed in 3 patients whose prosthesis records could not be found, while 3 other patients had less than 1 year of follow-up after prosthetic treatment. When the criteria for implant success or failure were applied in 13 remaining patients, 3 implant failures occurred in 59 total treatments. The cumulative survival rate of implants over an average of 43.3 months (15-116 months) was 94.9%. Conclusion: For patients with severe cognitive impairment who are incapable of oral self-care, implant treatment under general anesthesia showed a favorable prognosis.