• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.700-711
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• 2002

Purpose : Early identification and treatment of developmental disabilities is of considerable importance in the health care of children. Screening of development is aimed at identifying infants who may need more comprehensive evaluations. Methods : A new test, the Ewha Infant Development Screening Test(EDST) has been created to screen the development of infants, 0-4 years of age. EDST was constructed so that results can be calculated into developmental ages and developmental quotients. The test consists of three sectors, e.g. language, social-adaptive and motor, and of 158 test items. A total of 104 infants, aged from one month to four years, including healthy infants as well as 10 with chief complaints of developmental delay, who visited the pediatric clinic of Ewha Womans University Dongdaemun Hospital, from June, 25 to November 30, 2001, were given the Bayley Scale of Infant Development as a base test and EDST. Results : The result showed the appropriate cut-off of EDST was 90 with better sensitivity and specificity, compared to cut-offs of 85 or 80. Conclusion : Further study with a large number of infants in the future is needed to make EDST more reliable and accurate.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1199-1203
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• 2002

Purpose : The study aimed to evaluate the efficacy of auditory brainstem response(ABR) as a screening tool in children with speech and language disorders. Methods : Between January 1, 1999 and December 31, 2001, 139 patients with chief complaints of speech and language delay were recruited from the pediatric neurology clinic, Kyungpook National University Hospital, Daegu, Korea. They had ABR on entry and the clinical data were then analyzed. Results : Fifteen out of 139 cases(10.8%) showed abnormal findings; seven had pervasive developmental disorders, four had developmental language disorders, and four were noted to have other conditions. Among them, seven cases were noted to have conductive hearing loss and eight had sensoryneuronal hearing loss. We also evaluated the normal values in children at the ages of 18 months to seven years. The mean latency of wave I and V were $1.40{\pm}0.13$ and $5.57{\pm}0.26$ respectively. Interpeak latency of I-V was $4.18{\pm}0.24$. Conclusion : Based on these findings, ABR has proved to be a highly sensitive and specific index of hearing impairment. It should be used as a screening tool in children with speech and language disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.102-107
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• 1994

Recently several studies showed a strong and specific association of Attention-Deficit Hyperactivity Disorder(ADHD) and generalized resistance to thyroid hormone(GRTH). The recommandation that all children with ADHD be screened for GRTH is an newer controversial issue in child psychiatric field. Author examined thyroid indices(T3, T4, TSH) and clinical characteristics in the 51 clinical populations with ADHD, developmental delay, and language disorders. The results are that 11 cases were out of the normal range of both T2 and T4 inspite of normal TSH. This finding is suggestive of the finding of GRTH cases. Therefore I suggest that child psychiatrist should pay attention to ADHD symptoms secondary to GRTH and that all children with familial ADHD and developmental delay(including launguage disorder) be screened for thyroid abnormalities.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.104-110
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• 2013

Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.

• Clinical and Experimental Pediatrics
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• v.64 no.10
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• pp.497-503
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• 2021

Reading disability (dyslexia) refers to an unexpected difficulty with reading for an individual who has the intelligence to be a much better reader. Dyslexia is most commonly caused by a difficulty in phonological processing (the appreciation of the individual sounds of spoken language), which affects the ability of an individual to speak, read, and spell. In this paper, I describe reading disabilities by focusing on their underlying neurobiological mechanisms. Neurobiological studies using functional brain imaging have uncovered the reading pathways, brain regions involved in reading, and neurobiological abnormalities of dyslexia. The reading pathway is in the order of visual analysis, letter recognition, word recognition, meaning (semantics), phonological processing, and speech production. According to functional neuroimaging studies, the important areas of the brain related to reading include the inferior frontal cortex (Broca's area), the midtemporal lobe region, the inferior parieto-temporal area, and the left occipitotemporal region (visual word form area). Interventions for dyslexia can affect reading ability by causing changes in brain function and structure. An accurate diagnosis and timely specialized intervention are important in children with dyslexia. In cases in which national infant development screening tests have been conducted, as in Korea, if language developmental delay and early predictors of dyslexia are detected, careful observation of the progression to dyslexia and early intervention should be made.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.10
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• pp.109-118
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• 2016

Language intervention through cooking activity programs is designed to provide an efficient teaching method and improved educational environment in the field of teaching. This program addresses the effects of this program on the language development of three three-year-old infants (M;2, F;1) in the Center in Seoul. A cooking topic suitable for the age of this group was selected. The language Intervention was conducted for 50 minutes per week for a total of 25 times, and made use of vocabulary, verbs and nouns related to cooking which were evenly distributed. In this study, the Peabody Picture Vocabulary Test-Revised (PPVT-R), receptive language age (RLA) and expressive language age (ELA), and Preschool Receptive-Expressive Language Scale (PRES) were used to analyze the collected data. After the study, the cooking activity was accomplished with normal development outcomes appearing in the ability of vocabulary, receptive language, expressive language, and integrated language. There is now a solid evidence base supporting the efficacy of cooking activity in producing positive outcomes in the language development of language delayed infants. Consequently, cooking can induce their active participation and interest and extend their language abilities through various experiences.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1026-1030
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• 2006

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.98-103
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• 2013

Purpose: MAT-I/III deficiency by MAT1A gene mutation causes isolated hypermethioninemia, which is considered to be a clinically benign disease. But in some patients, mental retardation, developmental delay, myelination disorder may be shown. This study was performed to find out the clinical manifestations and genetic characteristics of patients with isolated hypermethioninemia. Methods: Clinical, biochemical and genetic analysis were done to 10 patients with isolated hypermethioninemia who were referred to department of pediatrics, Soonchunhyang University Hospital from March 1999 to March 2012. Results: At first visit, all patients' mean plasma methionine level was 5.5 mg/dL (2.1-14.6) and there were no increase of amino acid levels including homocystine in all patients. Serum homocysteine level was evaluated in seven patients who visited after year 2003, and ranged from 4.96 to $11.15{\mu}mol/L$ (normal < $25{\mu}mol/L$). Methionine restricted diet was started to all patients. Nine patients who managed regularly showed normal development, but one patient whose initial plasma methionine level was 14.6 mg/dL showed language delay at 1 year of age and was diagnosed as mild mental retardation (IQ=66) at 6 years of age. Genetic analysis was done to eight patients, R264H mutation was identified in seven patients. Also, both R299C and R356Q mutation were identified in one patient. Conclusion: Clinical findings in patients with isolated hypermethioninemia were generally good, but one patient showed mental retardation and language difficulty. R264H mutation which usually inherits as an autosomal dominant trait was most frequently found in our patients, and R299C/R356Q mutation were also identified.

• Clinical and Experimental Pediatrics
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• v.48 no.12
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• pp.1337-1341
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• 2005

Purpose : This study aimed to evaluate the usefulness of Korean Infant Development Screening Test in predicting delayed development in premature infants. Methods : A total of 74 children with histories of prematurity, who visited the pediatric neurology clinic of Korean University Ansan Hospital from August, 2002 to July, 2004, were examined, using the Korean Infant Development Screening Test. They were divided into two groups; a normal group and a patient(neurologically compromised) group. Results : At 7 months of conceptional age, the normal and patient groups differed significantly in the fine motor, cognitive-adaptive sections. At 12 months of conceptional age both group, differed significantly in the gross motor, fine motor, personal-social, language and cognitive-adaptive sections. At 18-24 months, the group, differed significantly in gross motor, fine motor, personal-social, language and cognitive-adaptive sections. Conclusion : The Korean Developmental Screening Test was useful in predicting developmental delay in premature infants.

• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.