• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.4
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• pp.188-195
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• 2012

Objectives:This study was conducted in order to evaluate the effectiveness of a day-center treatment program to promote development of children with pervasive development disorder (PDD) and pervasive development disorder/mental retardation (PDD/MR). Methods:Twenty five children (14 in the PDD group and 11 in the PDD/MR group) participated in a day-center treatment program. They had been enrolled in the whole program for 2-3 years. Their performance was evaluated according to the Preschool Language Scale (PRES), Social Maturity Scale (SMS), and Korean version of the Childhood Autism Rating Scale (CARS). They were grouped by diagnosis at the beginning of the program and the treatment effect was compared. Results:Children who participated in the day-center treatment program showed a significant increase in their PRES and SMS scores and a decrease in their CARS scores. Conclusions:A day-center treatment program is effective for development of children with PDD and PDD/MR.

• Journal of The Korean Dental Society of Anesthesiology
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• v.8 no.2
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• pp.122-126
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• 2008

A 15-years-old female patient with seizure disorder and pervasive developmental disorder was scheduled for dental treatment under ambulatory general anesthesia. She had past history of pneumonia and herpes encephalitis when she was 3 year old. Because of sever mental retardation and behavior disorder, routine laboratory test was substituted with physical exam and medical records of department of pediatrics. A few days before general anesthesia, she showed slight common cold, but pediatric consult had reported that there was minimal risk in general anesthesia. After 4-hour general anesthesia, she became critically sick with high fever, cough and malaise. After 10-day hospitalization with pneumonia and sepsis, she could go home.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.37-40
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• 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

• Journal of Animal Science and Technology
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• v.55 no.2
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• pp.141-146
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• 2013

This study was performed on 26 disabled adolescent participants (16 male, 10 female) with the objective of testing changes in equilibrium after engagement in horseback riding. Participants of total 26 persons were divided into three groups as follows: 6 children with Cerebral Palsy (CP), 14 children with Intellectual Disability (ID) and 6 children with Autism (AT). Participants engaged in therapeutic horseback riding (TR) two times per week for 30 minutes per session. The 26 participants demonstrated a considerable increase in equilibrium ability, with an average increase in equilibrium time of $44.22{\pm}50.70$ sec after TR. Equilibrium also increased according to disability group: CP (P < 0.05), ID (P < 0.001), and AT (P < 0.05). TR should be considered as a possible method for improving functionality in the physically disabled. This data may also be usefully applied to the development of a horseback riding program for the improvement of equilibrium in the disabled.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.317-324
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• 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

• The Korean Journal of Nuclear Medicine
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• v.15 no.1
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• pp.37-43
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• 1981

Congenital hypothyroidism due to organification defect was first reported by Haddad and Sidbury in 1959. The organification defect is easily proved by perchlorate discharge test. We experienced a patient who had large goiter, growth and mental retardation, and revealed positive reponse to perchlorate discharges test, and the surgical biopsied specimen showed Huerthle cell adenoma, which was probably due to chronic stimulation of thyroid stimulating hormone, or coexisted incidentally. Described here a case of congenital hypothyroidism due to organification defect associated with Huerthle cell adenoma, with review of some literatures.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.1-13
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• 2016

Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.

• Archives of Plastic Surgery
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• v.38 no.2
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• pp.203-206
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• 2011

Purpose: Kabuki syndrome is a multiple malformation syndrome that was first reported in Japan. It is characterized by distinctive Kabuki-like facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We report two cases of Kabuki syndrome with the surgical intervention and speech evaluation. Methods: Both patients had velopharyngeal insufficiency and had a superior based pharyngeal flap operation. The preoperative and postoperative speech evaluations were performed by a speech language pathologist. Results: In case 1, hypernasality was reduced in spontaneous speech, and the nasalance scores in syllable repetitions were reduced to be within normal ranges. In case 2, hypernasality in spontaneous speech was reduced from severe level to moderate level and the nasalance scores in syllable repetitions were also reduced to be within normal ranges. Conclusion: The goal of this article is to raise awareness among plastic surgeons who may encounter such patients with unique facial features. This study shows that pharyngeal flap operation can successfully correct the velopharyngeal insufficiency in Kabuki syndrome and post operative speech therapy plays a role in reinforcing surgical result.

• Journal of Oriental Neuropsychiatry
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• v.14 no.2
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• pp.15-25
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• 2003

Objectives : This study aimed investigation of clinical development to child neuropsychiatry through the oriental western medical approach of child neuropsychiatric disorders Methods : As DSM-IV and ICD-10 set a standard for clinical expression. According to this standard and oriental medical diseases, child neuropsychiatric disorders are divided into six symptoms Results and Conclusion : 1. View point of oriental medicine, Psycho Somatic stroke(inclusive of the spasm) place under the category 'Epilepsy(癎)', 'Children's fit(驚風)' and 'Chi-Kyeung(?痙)'. 2. View point of oriental medicine, Mental Retardation place under the category 'Dementia(?)', 'Amnesia(健忘)' and 'Speech Disorder(語遲)' 3. View point of oriental medicine, Emotional Disorder place under the category 'Adjustment Disorder(客?)', 'Cry with anxiety at night(夜啼症)', 'Gi-Byung(?病)' and 'Child depressive Disorder(小兒癲症)' 4. View point of oriental medicine, Conduct development Disorder place under the category 'Physical frail of five part(五軟)' and 'Physical stiff of five part(五硬)'. 5. View point of oriental medicine, Childhood Psychosis place under the category 'Insanity(癲狂)'. 6. View point of oriental medicine, Somatoform Disorder place under the category 'Palpitation of the heart(驚悸)', 'Vomiting and Diarrhea(吐瀉)', 'Asthma(喘)', 'Headache(頭痛)' and 'Enuresis(遺尿)'

• Neonatal Medicine
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• v.17 no.1
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• pp.127-131
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• 2010

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.