• 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.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Therapeutic Science for Rehabilitation
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• v.11 no.3
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• pp.81-92
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• 2022

Objectives : This study aimed to investigate the effect of beat-keeping games in smartphone applications on improving executive functions in children with developmental delays. Methods : Three children diagnosed with developmental delay were included in this study. The ABA design used a single-subject experimental research design. The independent variable was the beat-keeping game. The game was held three times a week for a total of seven times for 20 minutes, including breaks. The dependent variable, "Visual-motor speed," was measured every session to assess if the beat-keeping game was effective in improving the participant's executive function. Further, before and after the intervention, "Children's Color Trails Test (CCTT)", "Block design," and "Finding hidden picture" were measured. Results : All three participants showed improvement in the performance of the beat-keeping game and the executive functions of "Visual-motor speed" and visual attention. Conclusions : Based on the results of this study, various effective applications for learning and intervention can be developed and applied to children with developmental delays who have difficulty in motivating themselves and lack attention.

• Journal of Korean Academy of Nursing
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• v.15 no.3
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• pp.62-73
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• 1985

The problems of growth & development due to maladjustment are gradually increasing while need for the treatment of children's diseases is decreasing. The level of developmental deficiency or delay correlates with neonatal birth weight and also with gestational age, i.e. degrees of prematurity. There-fore, developmental defects and potential risk factors' are more Common in premature infants than in full term infants. The purpose of this study is to define the difference in the growth at developmental status between premature and full term infants, and to define the relation between the developmental status and the physical growth during the first 3 years' Data were collected from January 10, 1985 to April 6, 1985 at 3 hospitals including St. Mary's Hospital, and through home visiting. The subjects of this study consisted of 79 Premature infants (G.A. <37wks. & B.W. <2.5kg) and 94 full term infants (G.A.≥37 wks. & B.W.≥2.5kg). The study method used was a questionnaire, anthropometric assessment and DDST for normative data of growth & development. The collected data were analyzed using descriptive statistics, chi-square test and t-test. The results of the study were as follows: Hypothesis: 1 : That the prematures will differ from the full term infants in the physical growth status during the first 3 years was partially supported (p＜0.02) : The prematures reached up the full term infants in the physical growth status in the first 6 months. And, the first hypothesis was supported (P<0.01) : There are more cases which is below‘the Korean children's physical. growth standards’in prematures than in full term infants. Hypothesis 2 : That the prematures will differ from the full term infants in the developmental status during the first 3 years was supported (P< 0.001)；‘Normal’developmental status due to DDST was less in prematures than in full term infants. And, the second hypothesis was Partially supported (P<0.02) : The developmental status of the pre-matures was different from that of the full term infants within the first 3 months by analysis of passed items in DDST, Hypothesis 3 : That the prematures' developmental status will relate to their physical growth during the first 3 years was supported (P<0.001) : If the prematures' developmental status is in delayed status, then, their physical growth status is also in delayed status. This study shows that the prematures differed significantly from the full term infants in the growth at developmental status during their infancy. This means that the nurse can foster the growth & development of the prematures by supportive care during their infancy. Further longitudinal study is needed to verify these findings for the environmental factors.

• Proceedings of the Korea Society of Environmental Toocicology Conference
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• 2003.10a
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• pp.57-69
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• 2003

It is well known that many pesticides possess hormonal activity, and affect the developments of wildlife and mammals including human. Currently, pyrethroid insecticides are in worldwide use to control in and outdoor pests, providing potential far environmental exposure. Hormonal activities of these pyrethroid insecticides, however, have been little studied, and the developmental effects of them were no reported. Therefore, we firstly examined the potential estrogenic activities of some pyrethroid insecticides (permethrin, cypermethrin, tetramethrin, deltamethrin, sumithrin, fenvalerate and bioallethrin) by immature rat uterotrophic assay, luciferase reporter gene assay and Calbindin-D$\sub$9k/ (CaBP-9k) gene expression assay. Uterine wet weights were increased by permethrin and the permethrin-induced weights were inhibited by ICI 182780 in the uterolrophic assay. On the other hand tetramethrin significantly reduced uterine and vaginal wet weights, and also inhibited the E2-induced weight increases at all doses tested. Cypermethrin and sumithrin had a tendency to increase uterine weights, although not statistically significant. Permethrin and cypermethrin dose-dependently increased the luciferase activity in reporter gene assay. Northern blot analysis showed that permethrin induced CaBP-9k mRNA expression whereas tetramethrin inhibted. Subsequent studies were conducted to investigate the possible developmental effects of four pyrethroid insecricides (permethrin, cypermethrin, sumithrin and teramethrin). Either diethlbestrol (DES) or 17${\beta}$ -estradiol (E2) was used as a reference control in this study. Pyrethroid insecticides were administered to Sprague Dawley rats via subcutaneous injection at 6 to 18 days of gestation or 1 to 5 days after birth. In utero treatment of permethrin (10mg/kg/day) in female rat resulted in significant increases in uterine and ovarian weights while significant decreases in serum E2 concentration, uterine and ovarian ER${\alpha}$ mRNA levels. Sumithrin and permethrin led to acceleration in vaginal opening of female rat, while delay in preputial separation of male after neonatal treatment. Anogenital distances of PND 18 were significantly reduced in sumthrin-treated, and permerhrin-treated male rats after neonatal treatment. All the pyrethroid insecticides tested caused significant increases in uterine weights on PND 18, while significant reductions in the first diestrus phase when neonataly treated. In addition, exposure to pyrethroids in neonatal period led to significant reduction in relative brain weight in female rat on PND 18, but its weight was recovered in diestrus phase. In summary, Our experimental data demonstrate the possibilities of developmental effects of pyrethroid insecticides via estrogenic or antiestrogenic activity.

• Clinical and Experimental Pediatrics
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• v.48 no.8
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• pp.826-831
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• 2005

Purpose : This study is directed to evaluate standardized developmental test performances of infants and children who, as fetuses, had mild isolated cerebral ventriculomegaly diagnosed by ultrasound. Methods : All prenatal sonographic findings from 2001 to 2002 were evaluated. Live isolated mild ventriculomegaly(IMVM) of 10-15 mm were observed in 95 cases(1.1 percent). Standardized developmental testing of 40 cases of IMVM and 36 cases in a comparison group were offered to parents Both groups of children were adjusted to normal antepatum subjects with respect to sex, race, indication for ultrasound and gestational age at the time of ultrasound. Test of cognitive and motor development(Bayley Scales of Infant Development, Second Edition; BSID-II) were administered by developmental examiners. Results : Forty cases and 34 comparison sujects completed the testing. The IMVM and comparison groups were similar with respect to parental age, gestational age, birth weight, familial socioeconomic status. The IMVM subjects scored lower than the comparison group on both the BSID-II, but there was not statistically significant. differences; metal development index(MDI)($92.7{\pm}12.9$ vs $94.7{\pm}14.1$, P=0.47) and psychomotor development index(PDI)($100.3{\pm}14.1$ vs $101.3{\pm}10.7$, P=0.75). Eleven cases(27.5 percent) of IMVM group and five cases(14.7 percent) of the comparison group were developmentally delayed, but most cases in both groups showed mild delays. Resolution or lack of progression, lateral ventricle diameter ${\leq}12mm$ and females were associated with better scores, but there were not statistically significant. Polarity, and head circumference were not related to later development. Conclusion : This study show children with MIVM did not delay performance in the developmental test, but we might suggest a tendency to increase the risk of mild developmental delay.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.1
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• pp.71-78
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• 2001

Objectives：Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods：1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results：1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion：There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

• Journal of Families and Better Life
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• v.31 no.1
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• pp.11-27
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• 2013

The purpose of this study was to investigate the overall developmental characteristics of Korean children ages 0 to 8, and then explore specifically how children's social and emotional developmental levels are related to mothers' psychological states. This study was part of newly launched Boryung Baby Panel Study using web-based survey in 2011. The subjects were all mothers of 940 infants(0-2 years), 654 toddlers(3-5 years), and 484 school-age children(6-8 years) The mothers were asked to administer the web-based standardized developmental checklist for their child and fill out the questionnaires of psychological variables(life satisfaction, depression, parenting attitude, parenting efficacy, and parenting stress). The data was analyzed using descriptive analysis, t-test, and logistic regression for SPSS 20.0 windows. Major findings were as follows: 1. Infants(0 to 2) showed higher developmental level in cognition and fine motor skill domain compared to other domains. 2. Most toddlers(3 to 5) showed normal development in the most domain such as gross motor skill, fine motor skill, language, letter, number, self-help behavior. 3. In socio-emotional development domain, the ratio of risk or delay group were highest at both infant and toddler. 4. The 6-8 years old children that belong to risk group by the result of SDQ(emotion and behavior assessment) were also relatively high. 5. The relation of the children's socio-emotional developmental level and the mother's psychological variables were reciprocal. Based on these findings, the implications and the limitations of current study were discussed.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.12-18
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• 2015

Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as next-generation sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.

• The Journal of Korean Medicine
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• v.36 no.2
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• pp.50-55
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• 2015

Infants with tuberous sclerosis complex (TSC) have a higher chance of experiencing seizures before the age of 1 year; in particular, they commonly accompany infantile spasms. In cases where infantile spasms resulting from TSC are drug-resistant, more severe neuro-developmental and cognitive impairments occur. This particular case dealt with an infant with TSC who continued to experience partial seizures and infantile spasms despite using two different kinds of antiepileptic drugs (AEDs). His spasms ceased on the seventh day of taking modified Yukmijihwang-tang (YMJ), at which point he stopped the use of all AEDs. He became seizure-free after a month of the treatment and modified hypsarrythmia was found to have been resolved in the electroencephalogram test. Until now, the infant has been taking YMJ for 16 months and is maintaining the seizure-free state without side effects. Moreover, his developmental status is continually improving, with a significant progress in language and cognitive-adaptive abilities. Such results suggest that YMJ can serve as an alternative treatment option for refractory epilepsy.