• Clinical and Experimental Pediatrics
• /
• v.57 no.7
• /
• pp.310-316
• /
• 2014

Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2-47 months of age). All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feeding problems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.

• Journal of the Korea Convergence Society
• /
• v.11 no.7
• /
• pp.59-71
• /
• 2020

The purpose of this study is to determine whether vision therapy improves symptom and visual perceptual skills in children with attention deficit hyperactivity disorder tendency who have visual problems. The subjects of this study were 10 children. Before and after vision therapy, the visual function test, developmental test of visual-motor integration, test of visual perceptual skills, and ADHD rating scale test were performed. Vision therapy was conducted twice a week for a period of 6 months to 1 year. After vision therapy, all subjects achieved normal ranges of visual function, sensory fusion, stereoacuity, vergence function, and convergence. The visual function and visual perceptual skill were improved and the score for ADHD symptoms was reduced. Therefore, it seems that vision therapy can be used to improve the symptoms and visual perception of children with ADHD.

• Clinical and Experimental Pediatrics
• /
• v.57 no.3
• /
• pp.149-152
• /
• 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

• Journal of Korean Academy of Nursing
• /
• v.37 no.2
• /
• pp.242-248
• /
• 2007

Purpose. Parkinson's disease (PD) is a common neurodegenerative disorder characterized by motor disabilities and increasing dependence on others for daily life activities with consequent impact on patients' and caregivers' quality of life. The aim of this study was to elucidate the burden on primary caregivers of patients with PD, and identify related factors. Methods. A cross-sectional descriptive study. Seventy-six primary caregivers of PD patients in a neurology out-patient clinic, Seoul, Korea completed structured questionnaires, of which 68 were analyzed. The structured self-report questionnaire included (1) demographic information on the caregivers, (2) information regarding the disease characteristics of the patients, and (3) the subjective and objective caregiver burdens as assessed on Montgomery, Gonyea, & Hooyman's scale. Results. The mean age of the caregivers was 54.56 years, and spouses represented the largest proportion (47.0%). Caregivers of PD patients experienced high levels of burden (mean scores on the subjective and objective burdens were 45.22 and 34.90, respectively), which were comparable to the caregiver burdens in stroke, and higher than the caregiver burdens in general chronic disease. Older caregivers and spousal caregivers experienced significantly higher burdens (p=.004 and p=.019, respectively). A greater motor disability and higher modified Hoehn and Yahr grade were related to higher caregiver burden (p=.001 and p=.018, respectively). Conclusion. Caring for PD patients is associated with a high level of caregiver burden. Therefore, healthcare professionals should identify the burden of caregivers who look after PD patients and develop comprehensive management strategies both for patients and their caregivers.

• The Journal of Pediatrics of Korean Medicine
• /
• v.17 no.2
• /
• pp.199-211
• /
• 2003

Objective : This is clinical report about the Wei syndrome(?證)-patient diagnosed as Guillian-Barre syndrome. Guillain-Barre syndrome(GBS), what is called acute inflammatory polyneuritis, is a disorder in which the body's immune system attacks parts of peripheral nervous system. GBS is subclassified into acute inflammatory demyelinating polyneuropathy(AIDP), acute motor or motor-sensory axonal neuropathy(AMAN, AMSAN), and the other variants. The cause and mechanism of this syndrome are unknown yet. The typical Guillain-Barre syndrome could be diagnosed by the patient's syndroms and physical exams as the rapid onset of weakness, paralysis and loss of reflexes. The analysis of CSF and electrical test of nerve and muscle function can be performed to confirm the diagnosis. Most of the cases usually occur shortly after a viral infection. Method & Result : This is the clinical report about the one patient daignosed as Guillain-Barre syndrome. The patient, 9-year-old girl had the hemiparesis after upper respiratory infection. We characterized her as Wei syndrom(?證). The patient was treated by acupunture, indirect moxibustion, herb medication(通竅湯 加味方, 四物湯合檳蘇散 加味方) and had significant improvement in the Wei syndrome(?證). Conclusion : We report that we had good effects of oriental medical treatment on Guillain-Barre syndrome.

• Biomolecules & Therapeutics
• /
• v.29 no.5
• /
• pp.498-505
• /
• 2021

Amyotrophic lateral sclerosis (ALS) is a lethal neurological disorder characterized by the deterioration of motor neurons. The aim of this study was to investigate alteration of cationic amino acid transporter (CAT-1) activity in the transport of lysine and the pretreatment effect of lysine on pro-inflammatory states in an amyotrophic lateral sclerosis cell line. The mRNA expression of cationic amino acid transporter 1 was lower in NSC-34/hSOD1^G93A (MT) than the control cell line (WT), lysine transport is mediated by CAT-1 in NSC-34 cell lines. The uptake of [³H]L-lysine was Na⁺-independent, voltage-sensitive, and strongly inhibited by inhibitors and substrates of cationic amino acid transporter 1 (system y⁺). The transport process involved two saturable processes in both cell lines. In the MT cell line, at a high-affinity site, the affinity was 9.4-fold higher and capacity 24-fold lower than that in the WT; at a low-affinity site, the capacity was 2.3-fold lower than that in the WT cell line. Donepezil and verapamil competitively inhibited [³H]L-lysine uptake in the NSC-34 cell lines. Pretreatment with pro-inflammatory cytokines decreased the uptake of [³H]L-lysine and mRNA expression levels in both cell lines; however, the addition of L-lysine restored the transport activity in the MT cell lines. L-Lysine exhibited neuroprotective effects against pro-inflammatory states in the ALS disease model cell lines. In conclusion, studying the alteration in the expression of transporters and characteristics of lysine transport in ALS can lead to the development of new therapies for neurodegenerative diseases.

• Journal of Oriental Neuropsychiatry
• /
• v.35 no.3
• /
• pp.257-267
• /
• 2024

Objectives: Parkinson's disease is a degenerative neurological disorder caused by dopamine neuron damage, leading to various motor and non-motor symptoms, including depression. While several clinical studies on Traditional Korean Medicine (TKM) have addressed this issue, no comprehensive review has been conducted. This study aimed to summarize and analyze TKM treatments for depression associated with Parkinson's disease. Methods: This study reviewed research focused on treatment of Parkinson's-related depression, particularly examining traditional therapies such as acupuncture and herbal medicine. Data on treatment methods were analyzed to compare approaches of control and experimental groups. Specific use of acupuncture points and other TKM treatments was analyzed. Results: Out of 57 studies, 17 involving 649 participants were selected. Various treatment methods were evaluated, primarily using the Unified Parkinson's Disease Rating Scale (UPDRS). Studies predominantly focused on acupuncture targeting specific points (such as LI 4, GB 20, and ST 36) and the use of various herbal medicine combinations. Conclusions: Of the 17 studies, 13 focused on effects of acupuncture, suggesting that acupuncture might play a significant role in alleviating depression associated with Parkinson's disease. Specifically, the use of acupuncture points such as LI 4, GB 20, and ST 36 showed potential therapeutic effects. Additionally, 13 studies demonstrated that TKM could significantly alleviate depression, indicating the potential for an integrative approach combining Eastern and Western therapies. Herbal medicine and Qigong dance therapy also showed promising effects in improving depression.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.1 no.1
• /
• pp.27-39
• /
• 1990

The neural mechanisms involved in attention deficit hyperactivity disorder are largely unknown. In order to investigate the neuroanatomical lesions of attention deficit hyperactivity disorders and their relationships with psychopathology, Single Photon Emission Computed Tomography(SPECT) using HMPAO was performed in 46 ADHDS and Yale Children's Inventory(YCI), Conners Parent Questionaire and DSM-III-R Questionaire for Disruptive Behavior Disorder were used to assess the psychopathology of ADHDS The results are summarized as follows; 1) 30.4% (14/46) of this series revealed decreased perfusion In SPECT. 2) Regions of hypoperfusion were seen in cerebral cortex(17.4%, 8/46), thalamus(13.0%, 6/46), deep gray matter(8.7%, 4/46), basal ganglia(6.5%, 3/46) and cerebellum(2.2%, 1/ 46). 3) The mean scores of the total YCI revealed significant difference between the two groups(SPECT abnormal versus normal group), and among the subscales, hyperactivity, language and fine-motor subscales showed significant differences between the two groups. Although the relationship between the abnormal findings and specific symptom clusters of ADHDS remains unclear, we can suggest that these abnormal findings could be associated with ADHD, and based on these findings, the ADHDS can be subclassified into two groups. This study can be said to reinforce the current conception of heterogeneity of ADHD.

• Journal of Music and Human Behavior
• /
• v.17 no.1
• /
• pp.97-125
• /
• 2020

This case study examined the effects of synchronization-based group music therapy for improving peer interaction of children with autism spectrum disorder (ASD). The participants were five children between the ages of 6 and 10 with ASD. A total of eight 30-minute music therapy sessions were conducted two times a week. During sessions, target behaviors (i.e., engagement in joint action, synchronized movements, eye contact, and initiation of social interaction) were observed and analyzed. Also, the PIPPS-P was completed by parents to identify behavioral changes in real-life environments from pretest to posttest. Following the intervention, all of the participants showed increases in synchronized movements with peers and attempts to initiate social interaction. In addition, parents rated their children's play behavior as being improved in their everyday living environment. These results support that synchronous movements between children with ASD, which were facilitated with rhythmic cueing, led to enhanced engagement in joint action. Considering that those movements are the basis for further social skills (e.g., play behavior), this study also indicates that synchronization-based group music therapy could be an effective therapeutic approach for improving the peer interaction of this population.

• Clinical and Experimental Pediatrics
• /
• v.51 no.12
• /
• pp.1324-1328
• /
• 2008

Purpose : Attention deficit hyperactivity disorder (ADHD) is a syndrome characterized by inattention, impulsive disruptive behavior, impaired concentration, and motor restlessness. This study examined the relationships among electroencephalographic (EEG) findings, stimulant use, and seizure occurrence in children with ADHD. Methods : We retrospectively studied 308 children with ADHD who visited the neuropsychiatric clinic of our hospital from January 2001 to December 2005. We retrospectively analyzed age distribution, etiology, abnormal EEG findings, and use of CNS stimulants. Among these children, brain waves was recorded in 84 patients. Results : Eighty-four children (72 males, 85.7%, 9.3 years mean age; 12 females, 14.3%, 8.0 years mean age) with ADHD had electroencephalograms (EEGs) performed at our institute. Nineteen patients (22.6%) demonstrated epileptiform abnormalities, and 65 (77.4%) demonstrated normal EEGs. Stimulant therapy was applied to 59 of 84 patients (70.2%). Seizures occurred in 1 of 65 patients with a normal EEG (incidence, 1.5%) and 3 of 19 treated patients with epileptiform EEGs (incidence, 15.7%). Conclusion : These data suggest that patients with normal EEGs have minor risk for seizure. In contrast, patients with epileptiform EEGs have higher risk for seizure than patients with normal EEGs.