• Journal of Music and Human Behavior
• /
• v.4 no.2
• /
• pp.1-17
• /
• 2007

Huge growth in developmental level, new accomplishment, and The period of adolescents is not only the transition stage but also improvement of academic level. In this level of stage, adolescents have difficulties in development, so they show psychological abnormality such as stress and depression. They could develop mental disorder such as depression or anxiety if they do not overcome the abnormality. According to the situation of the insufficiency of the decent program for adolescents' mental health in the current society, we are strongly requested to develop the psycho-therapeutic program for them. Therefore, in this study, we examined the effect of the musical activities as blues music structure on the improvement of the Self-Efficacy in the female middle school students who have depressive tendencies as well as what they experienced through the activities. The 3 participants were selected out of 70 students in the first year at the "D" middle school in Seoul by being tested with Child Depression Inventory(CDI) and Self-Efficacy Scale(SES). The musical activities were built with 3 steps. Of which, the first one was the introduction to each other, the formation of rapport, and induction of their interests to the musical activities through blues. The second one was letting participants learn the blues music structure by practice and play assigned music(including improvisation) during later 5 sessions with different difficulties at each session. The third one was giving them opportunities to play a music out of the acquired ones during the session or creative music by their own, which results in maximizing musical activities and an acquired experience. As a result, first of all, the scores of CDI test of 3 participants in 10 time sessions showed slight changes, suggesting the negative correlation between CDI and SES even though changes were not big differences. Secondly, the scores of SES test of 3 subjects in 10 time sessions were all changed and especially preference for tasking was significant. Thirdly, the scores of SES for musical playing test of 3 participants in 10 time sessions were all changed and especially preference for musical tasking was significant shown. Finally, according to answers of 3 participants in 10 time sessions for the after questionnaire on musical activities, participants experienced affirmative self-confidence and positive emotion. Taken together, it was suggested that musical activities using blues music structure could be promising therapeutic intervention method.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.1
• /
• pp.25-30
• /
• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• 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 Society of Inherited Metabolic disease
• /
• v.18 no.3
• /
• pp.99-106
• /
• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.4 no.1
• /
• pp.124-132
• /
• 1993

We studied the clinical characteristics of 45 children with tic symptoms, and a comparison was made according to their birth order patterns. The results were as follows. Sex ration was 14:1 higher for boys. The eldest children were 46.7%, single children, 15.6%, the youngest children, 33.3%, and twins 4.4% of all Organicity was suggested in 37.8%, early developmental problems in 71.1%, and family problems were in 89.9%. Among the co-existing problems, ADHD 46.7%, OCD 17.7%, Separation anxiety disorder 24.4%, GAD or anxiety dreams 17.8%, somatization disorder and enuresis 13.3% each, stuttering 8.9%, and other conditions. Overall, 84.4% of the patients have one or more co-existing conditions other than tic symptoms. When compared according to birth order patterns, the most significant difference was the time of onset The youngests have more incidences around the entrance period for elementary school(p<0.01). Among the twins, the lower birth-weight child was the patient. Summing up these findings, we concluded there were significant environmental factors working on the manifestation of tic and tourette disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.21 no.3
• /
• pp.153-160
• /
• 2010

Objectives: The purpose of this study was to evaluate the prenatal, perinatal, and infancy history of children with autism spectrum disorder (ASD) as compared to unaffected siblings (SIB) and typically developing children (TC). Methods: Subjects with ASD, their SIB, and TC were recruited. All subjects were assessed using both the Korean version of Autism Diagnostic Interview-Revised (K-ADI-R) and the Korean version of Autism Diagnostic Observation Schedule (K-ADOS) and were subsequently identified as affected or unaffected. Prenatal, perinatal, and infancy history was obtained from the primary caregivers and each facet was compared in those with ASD, the SIB, and the TC groups using SPSS ver. 17.0 (p<.05). Results: 70 individuals with ASD (63 males, 87.94${\pm}$37.8months), 53 SIB (27 males, 85.4087.94${\pm}$48.06 months), and 32 TC (19 males, 104.1987.94${\pm}$23.409 months) were analyzed. The ASD group showed significantly higher rates of insufficient vaccination as they aged age ($x^2$=15.54, p=.000). Among the scheduled vaccinations, the DPT vaccination ($x^2$=10.08, p=.006) was insufficient in ASD groups. The ASD group also showed higher rates of sleep disturbances from infancy. Differences in maternal/paternal age at conception, gestational age, and growth parameters at birth were not significantly difference among the three groups. Conclusion: These results do not support the previous controversies regarding the relationship between prenatal/perinatal complications and ASD. However, these results indicate that perinatal and prenatal factors may contribute to the development of ASD.

• Clinical and Experimental Pediatrics
• /
• v.48 no.4
• /
• pp.411-415
• /
• 2005

Purpose : This study was performed to determine the developmental expression pattern of nerve growth factor(NGF) in the urine of healthy children. It was hypothesized that NGF may contribute to the development of the spinobulbospinal micturition reflex that represents the adult micturition pattern. Methods : Voided urine was collected in 60 healthy children during the first 5 years of life(0-1 month, n=10; 1 month-1 year, n=10; 2 years, n=10; 3 years, n=10; 4 years, n=10). The urinary NGF was analyzed by using an enzyme linked immunosorbent assay. Results were normalized based on creatinine or total protein in urine. Results : NGF was significantly greater among neonates compared to other age groups(P<0.05). NGF levels declined during 1 month to 1 year and increased by age 2 years. NGF levels at age 3 years were less than in neonates examined. When comparing the NGF levels according to continence in children over 1 year old, NGF levels were significantly lower in children with continence than in children with incontinence(P<0.05). Conclusion : These data suggest that NGF is involved in the achievement of continence and in mechanisms of bladder nerve growth and in the reorganization of bladder reflex pathway.

• Clinical and Experimental Pediatrics
• /
• v.50 no.11
• /
• pp.1067-1071
• /
• 2007

Purpose : The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. Methods : ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age of 18 months were enrolled. They were divided into two groups according to admission time: period I (1994-1999, n=36) and period II (2000-2004, n=98). Clinical data were collected retrospectively from the medical records. Results : Survival rates increased from 60.0% to 74.7%, cerebral palsy rates decreased from 22.2% to 8.2% and catch-up growth rate increased from 25.0% to 51.0% during period I and II. Despite less gestational age and birth weight, ELBWI during period II had less periventricular leukomalacia (PVL), sepsis and bronchopulmonary dysplasia compared to period I. The highest risk factors for cerebral palsy were intraventricular hemorrhage (IVH) (${\geq}$Grade III), failure of catch-up growth and PVL. Conclusion : In summary, improved viability was associated with decreased neurodevelopmental disability in ELBWI. Improved neonatal care with resultant decrease in PVL and IVH, and better nutritional support seem to be primarily responsible for this improved outcome.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.2
• /
• pp.85-93
• /
• 2012

Purpose: Developmental delay is caused by very diverse etiologic diseases. Most chronic disorders has some influence on development. Chronic or acute disorders of CNS are main etiologic diseases of developmental delay. Up to now, over 60 diseases are included in organic acidopathies and most of them causes acute or chronic recurrent CNS damage and developmental delay. We have done this study to find out the importance of organic acidopathies causing developmental delay in Korean childhood and adolescent patients. Method: Retrograde analysis for 738 patients with developmental delay whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 738 patients, 340 patients (46.1%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (MRCD) (253, 34.3%), followed by ketolytic defects(39, 5.3%), 3-hydroxyisobutyric aciduria (26, 3.5%), glutaric aciduria type II (8, 1.1%), pyruvate dehydrogenase deficiency (3, 0.4%), 3-methylglutaric aciduria (2, 0.3%), glutaric aciduria type I (2, 0.3%), ethylmalonic aciduria (1, 0.15%), methylmalonic aciduria (1, 0.15%), HMG-CoA lyase deficiency (1, 0.15%), 3-methylcrotonylglycinuria (1, 0.15%), fatty acid oxidation disorders(1, 0.15%) and FAOD (1, 0.15%). Conclusion: Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every developmental patient.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.7 no.2
• /
• pp.258-266
• /
• 1996

Self-injurious behaviors are commoly founded in the case of the developmentally impaired, such as mental retardation and autistic disorder. These behaviors are primary serious sources of distress for both child and their parents, another obstacle to overcome within the family and society. The author has a case that a child, had never before shown self-injurious behaviors. He abruptly started to injury his face and heel. The beginnings of these harmful behaviors are associated with symptoms of physical illness, such as fever, chills and general aches. The self-injured wounds were very severe. After the patient was treated with haloperidol and improved his physical conditions, self-injurious behaviors disappeared. The author reports the child's clinical process, characteristics of self-injurious behaviors, and discuss the treatment factors, along with a literature review.