• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.88-98
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• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• The Journal of Korean Academy of Sensory Integration
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• v.15 no.2
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• pp.35-45
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• 2017

Objective : The purpose of this study is to investigate the effect of modified Interactive Metronome (IM) program which is applicable to clinical practice based on the IM protocol on the behavioral symptoms, timing and motor function of children with Attention Deficit Hyperactivity Disorder (ADHD). Method : This study used one-group pretest-posttest research design. 13 ADHD children aged 7-12 years in Busan were participated in this study. The participants were underwent 24 sessions of 30 minutes intervention, 3 times a week. Evaluations were performed before- and after the intervention. Measurements used in this study were Korean-ADHD Rating Scale for behavior symptom, Long Form Assessment (LFA) for the timing, and second version of Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) for the motor function. Results : There was a significant improvement in hyperactivity / impulsivity among the behavioral symptoms, and there was a statistically significant improvement in timing, hand coordination, and body coordination. Conclusion : Modified IM program for clinical application has significant effect on improving behavioral symptoms, timing and motor function of children with ADHD.

• Journal of Digital Convergence
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• v.13 no.6
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• pp.225-234
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• 2015

Neurobiological approach helps to resolve the mind-body dualism and develop new assessment and treatment approaches in psychiatry. However, it could be a problem to place too much emphasis on certain aspects of neurobiology, specifically structural neuroanatomy, because of the complexity or comorbidity of neuropsychiatric disorders. Developmental Coordination Disorder (DCD), for instance, is generally related to problems in motor skills and this movement disability is often related to perception. One account, two visual systems theory, relied on functional distinction in brain; ventral stream is responsible for visual recognition, and dorsal stream is responsible for the guidance of actions. However, Studies are now showing that shape perception is relevant to visually guided action, such as reaching-to-grasp an object. In this article, I reviewed fundamental findings of two-visual system theory and suggested problems of visually guided action to consider what shape perception implies for the two visual systems. Questions raised highlight possible limitations of adopting a structural neuroanatomical approach to account for perception and action effects, and by extent related psychiatric conditions such as DCD. In conclusion, neurobiological approach converging to neuropsychiatry, while useful, would be limited if it focuses too much on anatomical distinction.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• The Journal of Korean society of community based occupational therapy
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• v.10 no.2
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• pp.63-72
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• 2020

Objective : The purpose of this study is to investigate the effect of intensive one-day training on Movement Assessment Battery for Children-2 screening developmental coordination disorder. Methods : We provided intensive one-day training which combined lecture and practice on MABC-2 assessment tools for 33 trainees. Interrater reliability was calculated by using Intraclass correlation coefficient (ICC) with the raw score of results scored simultaneously by experts and trainees of MABC-2. Results : The 33 female trainees with an average of five years and three months of experience and less experience using motor skill assessment tools scored raw score while watching the performance scenes of normal children. The results of the ICC between experts and training participants in MABC-2 obtained a high confidence 0.95 and above (p<.001). Conclusion : Clinicians who participated in one-day training seems to use MABC-2 effectively. Through this, one-day training seems to be effective in acquiring new motor skill assessment tools.

• Journal of Korean Society of Neurocognitive Rehabilitation
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• v.10 no.2
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• pp.1-7
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• 2018

The study has compared normally developed children and children who were diagnosed as autism spectrum in goal management training them to observe the effect. The research was conducted to four normally developed children and four children who were diagnosed as autism spectrum, and all subjects were provided with identical goal management training. The children and the caregivers have selected desired objectives activity, and all three activities were followed by goal management training. Intervention periods were conducted ten times in total, two times a week for five weeks, and eight subjects in the two groups were trained one on one by the researcher. The training time was 40 minutes for every session. The descriptive statistics and frequency analysis were used as the statistical method, and the Mann-Whitney test, the nonparametric statistical analysis, was conducted to compare the difference between the two groups. Goal management training for two groups did not show a statistically significant difference in terms of the performance status of Canadian Occupational Performance Measure (p>.05). In the summary of Bruininks-Oseretsky Test of Motor Proficiency (2nd) which evaluates the motor skill, there was a statistically significant difference between the autism spectrum disorder group and normal group (p<.05). Additionally, the two groups showed a statistically significant difference in eye-hand coordination sub-test among Developmental Test of Visual Perception (2nd) which evaluates the visual perception performance (p<.05). The research has confirmed the applicability of goal management training to children with autism spectrum compared to the normally developed children, and it has confirmed the effectiveness of the training.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.98-104
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• 1998

A 12-year-old girl with a 6 year history of childhood-onset schizophrenia required 2 hospitalizations and long-term clozapine trial due to inadequate responses to combinations of typical neuroleptics and traditional treatments of schizophrenic disorder. On admission, she had continuous auditory and visual hallucinations, persecutory delusion, emotional instability, regression of behaviors including temper tantrums as well as specific developmental delays in learning, language, and motor coordination. The clozapine trial significantly reduced most of the positive symptoms, and facilitated in successful discharge from the hospital. During the 4 year clozapine treatment, no significant adverse reactions were noted, and she returned to a structured school setting with minimal degrees of schizophrenic symptoms. From this clinical experience, we suggest that clozapine might be safe and effective in treating treatment-refractory schizophrenic children.