• Korean journal of psychology:General
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• v.36 no.1
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• pp.81-107
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• 2017

The study aims to investigate the clinical utility of Bayley-III using US norm in Korea. A total of 98 preterm infants and 93 term infants were assessed with the K-Bayley-III. The performance pattern of preterm infants was analyzed with mixed design ANOVA which examined the differences of scaled scores and composite scores of Bayley-III between full term- and preterm- infant group and within preterm infants group. Then, We have investigated agreement between classifications of delay made using the BSID-II and Bayley-III. In addition, ROC plots were constructed to identify a Bayley-III cut-off score with optimum diagnostic utility in this sample. The results were as follows. (1) Preterm infants have significantly lower function levels in areas of 5 scaled scores and 3 developmental indexes compared with infants born at term. Significant differences among scores within preterm infant group were also found. (2) Bayley-III had the higher scores of the Mental Development Index and Psychomotor Developmental Index comparing to the scores of K-BSID-II, and had the lower rates of developmental delay. (3) All scales of Bayley-III, Cognitive, Language and Motor scale had the appropriate level of discrimination, but the cut-off composite scores of Bayley-III were adjusted 13~28 points higher than 69 for prediction of delay, as defined by the K-BSID-II. It explains the lower rates of developmental delay using the standard of two standard deviation. This study has provided empirical data to inform that we must careful when interpreting the score for clinical applications, identified the discriminating power, and proposed more appropriate cut-off scores. In addition, discussion about the sampling for making the Korean norm of Bayley-III was provided. It is preferable that infants in Korea should use our own validated norms. The standardization process to get Korean normative data must be performed carefully.

• Korean Journal of Psychosomatic Medicine
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• v.24 no.2
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• pp.165-173
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• 2016

Objectives : Since the awareness of autism spectrum disorders(ASD) is growing, as a result, it is increasing numbers of infants and toddlers being referred to specialized clinics for a differential diagnosis and the importance of early autism spectrum disorders detection is emphasized. This study is to know the difference between ASD and intellectual disability(ID) from comparison of the demographics, clinical characters and obstetric complications. Methods : The participants are 816 toddlers who visited the developmental delay clinic(DDC) in National Health Insurance Ilsan hospital. The number of toddlers diagnosed as ASD and ID was 324 and 492. 75 toddlers out of 114 who returned to DDC were diagnosed as ID at the first visit but 7 of them had changed diagnosis to ASD at the second visit. After compared ASD with ID from the first visit, we analyzed characters of toddlers who had the changed diagnosis to ASD at the second visit. Results : As a result, the comparison between ASD and ID at the first visit shows that the boys have higher ratio, lower obstetric complication and lower language assessment score in ASD. The toddlers who had the changed diagnosis at the second visit were all boys and they had more cases of family history of developmental delay and had lower score of receptive language developmental quotient. Conclusions : These findings suggest that sex, language characteristics and obstetric complication could be useful in the early detection of ASD.

• Korean Journal of Biological Psychiatry
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• v.21 no.4
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• pp.118-127
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• 2014

Along with language, socialization is a unique feature of the human being. There is a continuous debate regarding whether the development of socialization is innate, and conducted by the environment in the growing process, or the result of the interaction of both aspects. If socialization is the result of the interaction with the environment or is an acquired developmental process, the following question rises. "Is there a 'critical period' for the development of socialization?" Although there are a huge number of studies seeking for treatment and solutions for developmental delay or deficits of socialization, it is very complicated question to answer. Historical figures such as 'Hugh Blair' of Borgue in England, and 'the wild boy of Aveyron' in France, seem to have innate socialization deficits. Nowadays patients with non-verbal learning disorder, social communication disorder, or autism spectrum disorder seem to have genetic defects. On the other hand, Harry Harlow's monkey experiments, hikikomori of Japan, Romanian orphans and patients with reactive attachment disorder seem to display social deficits due to environmental factors. However, it is not easy to clearly draw a line between innate or acquired factors. Therefore, rather than subdividing the diseases for etiological and pathophysiological approach to heterogenous groups with the common denominator of social deficit, and for the research of pathophysiology and treatment development, the authors suggest a comprehensive concept of "social dysfunction spectrum."

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.2
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• pp.145-157
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• 1999

This study was performed by the children and adolescents who were abused or neglected physically, emotionally that were selected in child & adolescents psychiatric ward. We investigated the number of these case in admitted children & adolescents, and also observed characteristics of symptoms, developmental history, characteristics of abuse style, characteristics of abusers, family dynamics and psychopathology. We hypothesized that all kinds of abuse will influnced to emotional, behavioral problems, developmental courses on victims, interactive effects on family dynamics and psychopathology. That subjects were 22 persons of victims who be determined by clinical observation and clinical note. The results of the study were as follows：1) Demographic characteristics of victims：ratio of sex was 1：6.3(male：female), mean age was $11.1{\pm}2.5$. According to birth order, lst was 12(54.5%), 2nd was 5(23%), 3rd was 2(9%) and only child was 3(13.5%). 2) Characteristics of family：According to socioeconomic status, middle to high class was 3(13.5%), middle one was 9(41.% ), middle to low one was 9(41%), low one was 1(0.5%). according to number of family, under the 3 person was 3(13.5%), 4-5 was 17(77.5%), 6-7 was 2(9%). according to marital status of parents, divorce or seperation were 5(23%), remarriage 2(9%), severe marital discord was 19(86.5%). In father, antisocial behavior was 7(32%), alcohol dependence was 10(45.5%). In mother, alcohol abuse was 5(23%), depression was 17(77.3%), history of psychiatric management was 6(27%). 3) Characteristics of abuse：Physical abuse was 18(81.8%), physical and emotional abuse and neglect were 4(18.2%). according to onset of abuse, before 3 years was 15(54.5%), 3-6 years was 5(27.5%), schooler was 1(15%). Only father offender was 2(19%), only mother offender was 8(35.4%), both offender was 8(35.4%), accompaning with spouse abuse was 7(27%), and accompaning with other sibling abuse was 4(18.2%). 4) General characteristics and developmental history of victims：Unwanted baby was 12(54.5%), developmental delay before abuse was9(41%), comorbid developmental disorder was 15(68%). there were 6(27.5%) who didn‘t show definite sign of developmental delay before abuse. 5) Main diagnosis and comorbid diagnosis：According to main diagnosis, conduct disorder 6(27.3%), borderline child 5(23%), depression4(18%), attention deficit hyperactivity disorder(ADHD) 4(18%), pervasive developmental disorder not otherwise specified 2(9%), selective mutism 1(5%). According to comorbid diagnosis, ADHD, borderline intelligence, mental retardation, learning disorder, developmental language disorder, oppositional defiant disorder, chronic tic disorder, functional enuresis and encoporesis, anxiety disorder, dissociative disorder, personality disorder due to medical condition. 5) Course of treatment：A mean duration of admission was $2.4{\pm}1.5$ months. 11(15%) showed improvement of symtoms, however 11(50%) was not changed of symtoms.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.