Journal of the Korean Pediatric Society 1994;37(10):1437-1448.
Published online October 15, 1994.
Etiological Classification of Mentally Retarded Children Enrolled in a Special Educational Institution
Seon-Kyeong Yoo1, Han-Wook Yoo2
1Department of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea
2Department of Pediatrics, Ulsan University, College of Medicine, Seoul, Korea
특수 교육 기관에 수용중인 정신 지체 아동의 원인적 분류
신선경1, 유한욱2
1경상대학교 의과대학 소아과학교실
2울산대학교 의과대학 소아과학교실
Abstract
Mental retardation(MR) is classically deficits in adaptive behavior and manifest during the developmental period. The causes of mental retardation were not understood in many cases. This study was undertaken to identify the etiologies of mentally retarded children enrolled in a special educational institution under the hypothesis that clarifying causes of MR can not only provide basic epidemiological data on MR in Korea, but also imply possibly preventable measures to avoid MR in some cases. In this study, complete medical history was taken in addition to a thorough individual physical examination with collection of urine specimens for metabolic screening tests including ferric chloride, DNPH, nitrosonaphthol, nitroprusside, CTAB, and reducing substance tests in 259 mentally retarded children aged between 3 through 18 year old. The cytogenetic, molecular genetic, and endocrine studies were performed in 14 children with high clinical suspicion of chromosomal abnormalities and congenital hypothyroidsm. Dysmorphism syndromes were delineated using computer software program. Definite or presumptive etiological diagnosis has been made in 122(47%) mentally retarded children. Among three major identifiable causes, perinatal brain damage resulted from difficulties in labor, prematurity, kernicterus, and neonatal sepsis, was most commonly found in 57 children(22%), followed by chromosomal abnormalities including Down's syndrome and fragile-X syndrome in 35 children(13.5%), and dysmorphism syndrome in children(3.9%) in order. Other identifiable causes for mentally retarded children were listed as autism(2.3%), endocrine & hereditary metabolic disease(1.9%), central nervous system malformations, neurophakomatoses(1.9%), and postnatal accidents, poisoning, infection(1.5%). In conclusion, aforementioned data suggested that one fourth of MR can be avoided or treated by making efforts to improve peri, postnatal care and early detection. Routine urinary metabolic screening tests for inborn errors cannot be justified thought CTAB test showed high specificity for the diagnosis of mucopolysaccharidosis. Some mentally retarded children's families need genetic counselling since Mendelian inherited disorders are culpable ofr causing MR in some children.
Key Words: Mental retardation, Etiology, Erinary metabolic screening tests


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