• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• 제22권1호
• /
• pp.16-24
• /
• 2011

Objectives：This study examined the prevalence of psychiatric problems in children with scholastic difficulties who had been referred for mental health services from the Office of Education in Ulsan Metropolitan City. Methods：Child psychiatrists evaluated the referred children using the DSM-IV. Evaluation tools included the Wechsler Intelligence Scale for Children-III, the Children's Depression Inventory, the Korean form of the State-trait anxiety Inventory for children, the ADHD rating. Results：Seventy-six children consisting of 64 boys (84.2%) and 12 girls (15.8%) participated in the study. The average age was 10.3 (SD=0.93) years old. Approximately 74% of the children referred for scholastic difficulties were diagnosed with mental retardation. The Axis I diagnosis among these children were ADHD (86.8%), depression (21.1%), learning disorder (9.2%), communication disorder (4.8%), pervasive developmental disorder (3.6%), internet addiction (1.3%), and mood disorder (1.3%). Their overall measure according to the Child Depression Inventory was 22.7 (SD=16.8), that for the State-Trait Anxiety Inventory for Children was 33.3 (SD=7.9)/32.4 (SD=9.5), and that for the ADHD rating scale was 18.9 (SD=10.9). Conclusion：These results suggest that many children with scholastic difficulties have both complex psychiatric and educational problems.

• 한국사회복지학
• /
• 제43권
• /
• pp.106-130
• /
• 2000

When parents as primary care takers to the mentally disabled adult are no longer taking care of their care-needed offsprings because of their own death or illness, instead themselves. who take care of their offsprings with the mental disability? Therefore, 'permanency planning' is very important for reduction of parents' care burden and social integration of mentally disabled adults. Accordingly, this study aims to find out factors which are related to permanency planning for adults with the mentally disability For the purpose of the study, 192 parents of the adult with the mental illness and mental retardation were conducted a survey regarding type of permanency planning, and its related factors including social functioning level of the mentally disabled, care burden, parents' self-perception of being aged, help from offspring without mental disability, social support, and financial ability. Furthermore, this study examined correlation between these factors and residential planning. Results obtained by the study were as follows: 1) 51% of the parents are having a plan for institution and most parents want other family member to take care for financial planning for their mentally disabled offsprings. 2) As a result of multiple regression for finding out factors which affect parents' permanency planning, social functioning level of the mentally disabled, parents' self-perception of being aged, help from offspring without mental disability, social support, and financial ability were statistically significant influenced factors, which has 23.3% of explanatory power. 3) As a result of step-wise multiple regression, financial ability, parents' self-perception of being aged, and help from offspring without mental disability were the most powerful influenced factors for permanency planning. 4) In case of having a plan for residential types-which are institution and community living-, parents who have a plan for the mentally disabled offsprings' future residence as community living than institution have the offsprings with more social functioning and also have more help from offspring without mental disability. Therefore, this study concluded that welfare policy for mental health and the handicapped which secure various types of community living facilities and income security is strongly needed. At the same time, mental health profession is needed to have more active interest and intervention for permanency planning for their adult clients and parents.

• 대한구순구개열학회지
• /
• 제3권1호
• /
• pp.33-36
• /
• 2000

Cornelia de Lange syndrome is a disorder of unknown biochemical and geneic basis that is recognized on the basis of characteristic facies(low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, carp mouth) in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. We treated the patient with incomplete cleft palate related to Cornelia de Lange syndrome.

• 대한임상검사과학회지
• /
• 제39권2호
• /
• pp.63-67
• /
• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• Journal of Yeungnam Medical Science
• /
• 제36권2호
• /
• pp.152-154
• /
• 2019

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

• Molecules and Cells
• /
• 제43권10호
• /
• pp.870-879
• /
• 2020

Dendrites require precise and timely delivery of protein substrates to distal areas to ensure the correct morphology and function of neurons. Many of these protein substrates are supplied in the form of ribonucleoprotein (RNP) complex consisting of RNA-binding proteins (RBPs) and mRNAs, which are subsequently translated in distal dendritic areas. It remains elusive, however, whether key RBPs supply mRNA according to local demands individually or in a coordinated manner. In this study, we investigated how Drosophila sensory neurons respond to the dysregulation of a disease-associated RBP, Ataxin-2 (ATX2), which leads to dendritic defects. We found that ATX2 plays a crucial role in spacing dendritic branches for the optimal dendritic receptive fields in Drosophila class IV dendritic arborization (C4da) neurons, where both expression level and subcellular location of ATX2 contribute significantly to this effect. We showed that translational upregulation through the expression of eukaryotic translation initiation factor 4E (eIF4E) further enhanced the ATX2-induced dendritic phenotypes. Additionally, we found that the expression level of another disease-associated RBP, fragile X mental retardation protein (FMRP), decreased in both cell bodies and dendrites when neurons were faced with aberrant upregulation of ATX2. Finally, we revealed that the PAM2 motif of ATX2, which mediates its interaction with poly(A)-binding protein (PABP), is potentially necessary for the decrease of FMRP in certain neuronal stress conditions. Collectively, our data suggest that dysregulation of RBPs triggers a compensatory regulation of other functionally-overlapping RBPs to minimize RBP dysregulation-associated aberrations that hinder neuronal homeostasis in dendrites.

• Journal of Genetic Medicine
• /
• 제5권1호
• /
• pp.65-68
• /
• 2008

염색체 말단부위의 결실, 혹은 중복 등의 재배열은 정신지체나 기형의 중요한 원인이 되며, 정신지체 환자 2,500명에서 5%미만으로 보고되고 있다. 그러나 일반적으로 행하여지는 핵형 분석으로는 미세한 염색체의 재배열을 정확히 설명하기 어렵다. 본 증례는 불균형 전좌를 가진 성인여성의 정확한 핵형 분석을 위해 말초혈액의 분석 시 기존의 세포유전학적인 방법에 분자유전학적인 방법을 함께 병행한 보고이다. 환자는 31세 여성으로 심각한 정신지체, 행동발달과 언어 발달 장애를 보였으며, 그 원인분석을 위해 Trypsin과 Giemsa를 이용한 GTG 염색법으로 핵형분석을 시행하였다. 그 결과, 46,XX,add(8)(p23.3)으로 확인되었으며, 기원을 확인하기 위하여 부모 염색체 검사를 통해 유전력의 여부를 확인하고, array CGH와 FISH를 시행하여 기원을 알 수 없는 염색체 조각의 기원을 확인한 결과 46,XX,der(8)t(8;13)(p23.3;q32.1)dn의 최종 핵형을 확인하였다. 따라서, FISH 또는 array-CGH 등의 분자유전학적 방법의 적절하고 적극적인 적용은 기존의 세포유전학적 방법을 보완하여, 환자의 정보를 빠르고 정확하게 보고하는데 매우 유용하고, 효과적인 방법이라 하겠다.

• Clinical and Experimental Pediatrics
• /
• 제51권5호
• /
• pp.546-550
• /
• 2008

전형적 페닐케톤뇨증에서 식이 요법을 조기에 실시하지 않으면 생후 1세경에는 지능 지수가 50이하로 심한 정신지체가 된다고 알려져 있으나, 일부에서는 심한 정신 지체를 보이지 않기도 한다. 그 기전은 확실치 않으나 혈장에서보다는 뇌에서의 페닐알라닌 수치와 관련이 있을 것으로 생각되고 있다. 또한 페닐케톤뇨증 여성이 임신을 한 후 식이조절에 실패하게 되면 증가된 혈중 페닐알라닌이 태아에 영향을 주어 출생 후 저체중, 소두증, 선천성 심질환, 발달 지연, 지능 저하, 등이 올 수 있다. 따라서 전체 임신 기간 중 산모의 혈장 내 페닐알라닌을 6 mg/dL 미만으로 유지하도록 조절하여야 한다. 본 증례의 산모는 정신 지체는 아니었으므로, 본인이 페닐케톤뇨증 환자인지 모르고 지내다가 두 자녀를 출산하였다. 첫째아이는 4세경에 타병원에서 페닐케톤뇨증으로 진단받았으며, 저출생체중과 구개열의 수술병력 및 소두증이 있었다. 둘째아이는 페닐케톤뇨증은 아니었으나, 저출생체중과 소두증, 및 발달 지연을 보이고 있다. PAH유전자 분석에서 환아의 어머니는 R243Q/Y325X, 환아의 언니는 Y325X/P407S로 compound heterozygotes 임을 확인하였다. 환아의 아버지와 환아는 각각 P407S/- 및 R243Q/-를 가진 heterozygous 보인자이었다. 따라서 페닐케톤뇨증 환자 중 일부에서는 심한 정신 지체는 없이 일상적인 생활을 하는 경우도 있으므로, 출생아에서 원인이 밝혀지지 않는 저체중, 소두증, 지능 발달 지연 등이 있을 때는 가족력을 확인해 볼 필요가 있다.

• Clinical and Experimental Pediatrics
• /
• 제48권8호
• /
• pp.799-805
• /
• 2005

Hypothyroidism is a deficiency in thyroid hormone secretion by the thyroid gland and a defect in thyroid hormonal receptor activity. It is categorized by the two major forms in children, the one is congenital hypothyroidism and the other is acquired hypothyroidism. Congenital hypothyroidism is one of the commonest treatable causes of mental retardation and occurs in 1 in 3,000-4,000 infants worldwide. Acquired hypothyroidism is a diseases that have an onset usually after 6 months of age and it may be relate to deceleration in linear growth. The objectives of this article are obtain general and practical concepts of congenital and acquired hypothyroidism during infancy, childhood, and adolescence.

• Journal of Yeungnam Medical Science
• /
• 제9권2호
• /
• pp.427-435
• /
• 1992

We have experienced a case of infantile nephrotic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed growth and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.