• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.2 no.1
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• pp.87-96
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• 1991

A double bhad, placebo controlled study was performed to evaluate the therapeutic effects of Carbamazepine in autistic children, 23 boys with the diagnosis of Pervasive Developmental Disorders according to the DSM-IIIR were selected for study subjects, from Child and Adolescent Psychiatric Outpatient Department of Seoul National University Children Hospital during Oct. $1989{\sim}Nov.$ 1991. Subjects with histories of medical disease or psychiatric diseases were excluded and all study subjects had drug free periods more than 2 Months. Study subjects were randomly assigned to Cabamazepine treatment group(N=12) and placebo group(N=11). After the baseline observation periods, the double blind drug treatment and observation were performed for 12 weeks. Several scales (Ritvo-Freedman Real Life atring Scale. Behavior Checklist) were employed to evaluate the effects of drug treatment during baseline observation periods and the drug treatment periods by two raters blind to the study. Interrater reliability of each scales were .4875~.6613, the socrodemographic variables and the rating scores during baseline observation periods were not significantly different between two groups. Reduction of total scores in Autsm Behavior Checklist scale, i.e.. improvement of global autistic symptoms were noted significantly in Carbamazepine treatment group. Improvement in significant social maturations according to Vineland Social Mataration scale were observed in both patient groups after drug treetment periods.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.41-53
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• 1994

In 1944 Hans Asperger reported odd bizzare 400 children who showed autism like clinical symptoms but had higher intelligence and relatively intact speech function. He named these child 'autistic psychopathy'. Since them there were many controversial views about this syndrome. Some regards Asperger syndrome as the high functioning autism variant or preschizophrenic childhood condition or childhood form of schizoid personality disorder. Though there were still many controversy, recently ICD-10, DSM-IV accepted Asperger's syndrome as a distinct subtype of pervasive developmental disorder. The authors reviewed the history and conceptual changes of Asperger syndrome and summarized the interesting recent research findings. In addition, the authors argue that this syndrome has some linkage with autism and schizoid personality disorder and proposed that these is disorders do have common defect in social instinctual development.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.3-26
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• 1993

Leo Kanner (1943)의 자폐증에 관한 획기적 논문발표 50주년을 맞아, 자폐증의 개념변천, 분류, 의학, 원인설 및 자폐증의 본질을 문헌고찰을 통해 살펴 보았다. 초기에 자폐증을 정신병의 아형으로 보다가 1980년 (DMS-III)을 기점으로 전반적 발달장애로의 개념 변천이 일어났다 원인설도, 초기의 심리${\cdot}$환경설은 지지 받지 못하고 1960년대에는 신경${\cdot}$생물학적 이상이 자폐병리의 기저를 이룸이 분명해 졌고 1970년대에는 지각과 운동, 감각과 인지 통합의 결함, 심각한 언어, 인지의 장해가 일차적인 결함으로 생각 되었다 최근 1980년 후반기 부터 상징적${\cdot}$표상적 인지의 결함, 타인의 감정과 생각의 이해 결함, 사회적${\cdot}$정감적 표현의 결함등 사회${\cdot}$정서발달의 이상이 자폐의 근본적 결함이라는 비교 관찰 연구가 많이 보고되어, 자폐증의 근본적이고 일차적인 결함이 정감적 접촉의 선천적 장애라는 Kanner의 놀라운 임상적 통찰을 증명해 주고 있다. 저자는 이상의 광범위한 문헌 고찰을 통해 자폐장애를 일차성 애착장애로 개념화하고 앞으로 치료, 교육의 방향도 일차적으로 사회${\cdot}$정서발달에 촛점을 두어야 하며, 특히 어머니와의 애착증진 치료가 필요함을 제안하고 있다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.108-117
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• 1994

Twenty nine children with autism and thirty children with mental retardation were examined for association between autism and chromosomal disorders including fragile X. The peripheral blood was cultured in Medium 199 with methotrexate and without methorexate for 70 hours. Thirty metaphase cells in each case were karyotyped in all samples. Chromosomal abnormalities were found in 11 cases(37.9%) of autistic disorder and 10 cases (33.3%) of mental retardation, but in none of fragile(X)(q27.3) from all cases. Chromosomal abnormalities were present on group A, C, D and X in autistic disorder and on group A, B, C, D, E and X in mental retardation. No specific chromosomal region was found in both autistic disorder and mental retardation. Types of chromosomal disorders were only fragile and/or gap but no numerical abnormality was present in all cases. Number of cells which revealed fragile sites were 31 cells(3.6%) out of 870 cells in autistic disorder and 29 cells(3.2%) out of 900 cells in mental retardation Number of cells which revealed gaps were 43 cells(4.9%) out of 870 cells in autistic disorder and 35 cells(3.9%) out of 900 cells in mental retardation. Autistic disorder may not be directly correlated with fragile X but with nonspecific chromosomal breakages from these data.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.1
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• pp.100-112
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• 1999

Objective：In life-long disabilities like autism and mental retardation, the authors thought that it is important for clinician to consider the quality of life of a primary caregiver for long-term management and prognosis. This study was to investigate the factors of children and family environment affecting the quality of life and depression in mothers with autistic and/or mentally retarded children. Methods：41 autistic and/or mentally retarded children aged 5-12 years with their mothers were surveyed from September, 1998 to January, 1999, with K-CBCL, K-BDI, K-FES, and K-SBQOL scale and compared with data from 35 normal control subjects. Results：1) Total K-BDI and K-SBQOL scores of mothers with mentally handicapped children were significantly poorer than the scores of normal control group. Independence, intellectual/cultural orientation and active recreation subscales of K-FES in mentally handicapped children were significantly decreased than those in normal control group. 2) Total K-BDI score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially internalizing and thought symptoms, and with family cohesion, expressiveness, conflict and independence. 3) Totol K-SB quality of life score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially attention problem, and with family cohesion, conflict, independence, intellectual/cultural orientation, and moral-religional emphasis. 4) The quality of life of mothers with mentally handicapped children was predicted by attention problem($R^2$=.36, p=.000) and social competence($R^2$=.07, p=.038) in children and family cohesion ($R^2$=.16, p=.001). 5) Depression of mothers with mentally handicapped children was predicted by internalizing symptom ($R^2$=.21, p=.003) and thought disorder($R^2$=.06, p=.048) in children and family cohesion($R^2$=.14, p=.008). Conclusion：Reducing behavioral problems and family therapeutic intervention in autistic and mentally retarded children can improve the quality of life of primary caregivers and long-term prognosis of the children, although those are not curative.

• Clinical Psychopharmacology and Neuroscience
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• v.16 no.4
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• pp.415-421
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• 2018

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.31 no.3
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• pp.105-120
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• 2020

Although autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, patients with ASD frequently manifest atypical sensory behaviors. Recently, atypical sensory perception in ASD has received much attention, yet little is known about its cause or neurobiology. Herein, we review the findings from neuroimaging studies related to visual perception in ASD. Specifically, we examined the neural underpinnings of visual detection, motion perception, and face processing in ASD. Results from neuroimaging studies indicate that atypical visual perception in ASD may be influenced by attention or higher order cognitive mechanisms, and atypical face perception may be affected by disrupted social brain network. However, there is considerable evidence for atypical early visual processing in ASD. It is likely that visual perceptual abnormalities are independent of deficits of social functions or cognition. Importantly, atypical visual perception in ASD may enhance difficulties in dealing with complex and subtle social stimuli, or improve outstanding abilities in certain fields in individuals with Savant syndrome. Thus, future research is required to elucidate the characteristics and neurobiology of autistic visual perception to effectively apply these findings in the interventions of ASD.

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

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.2
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• pp.85-87
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• 2007

The new research data and rapid development of psychotropic drugs over the past few years have warranted the development of clinical practice guidelines for managing pervasive developmental disorder(PDD). These guidelines are urgently needed due to the recent changes in social circumstances and clinical situations in Korea. Despite the many limitations and problems surrounding the development of these guidelines, the Korean Academy of Child and Adolescent Psychiatry(KACAP) has decided to develop the Korean Practice Parameters for the Treatment of PDD. The goal, basic principles, organization, and implications of this development project are introduced in this special paper. We expect these practice parameters to be a useful reference not only for child psychiatrists and other healthcare professionals in clinical practice, but also for the autistic patients themselves and their caregivers. The practice parameters shall be revised and improved in the near future.