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발달지연 환아의 진단적 접근과 원인 분석

Other Titles
 Multidisciplinary Diagnostic Approach and Etiologic Evaluation of Patients with Developmental Disorders 
 윤지현  ;  송종근  ;  정희정  ;  김성우  ;  김영기  ;  송동호 
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.13(2) : 232-242, 2005 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
Issue Date
Developmental delay ; Multidisciplinary diagnostic approach ; Phenomenological and etiologic diagnosis
Developmental delay ; Multidisciplinary diagnostic approach ; Phenomenological and etiologic diagnosis
Purpose : The prevalence of developmental delay is 5-10% of the total pediatric population and early diagnosis and proper intervention are essential but a challenge for clinicians. We performed this study for several purposes. First is to know the distribution & characteristics of developmental disorders in Korea. Second is to identify all possible causes of these disorders through a multidisciplinary diagnostic approach, and thus to find out the clinical variables that are helpful in finding the etiology. And finally to develop a useful protocol that eliminates the cost of unnecessary tests and raises the diagnostic rate of the cause. Methods : 518 patients(M 349, F 169) were studied who visited Ilsan Hospital Developmental Disorder Clinic(DDC) for the evaluation of developmental delay from April 2001 to Jan 2005. Results : The mean age was 51.5+/-32.9 months, ranging from 2 months to 16.0 years of age with a majority of the preschool children(<6 yr)(79.3%). Phenomenological diagnosis consisted of 133 cases of mental retardation, 122 cases of autistic disorders, 101 cases of delayed language disorders, 27 cases of cerebral palsies, and 91 cases labeled as simple developmental delay requiring follow up due to age less than 2 years of age. Etiologic diagnosis was obtained in 119 cases(22.9%) out the 518 cases of developmental delays. 37 cases of chromosomal anomalies, 23 cases of Periventricular leukomalacia and hypoxic ischemic encephalopathy, 21 cases of syndromes, 7 cases of malformation of cortical development, 4 cases of myopathies, 4 cases of neuropathies, and 4 cases of cerebral infarctions were found. Among the clinical variables, low birth weight, facial dysmorphism, hypotonia, focal neurologic signs, and abnormalities in MRI, chromosome, EEG and EMG studies contributed to the yields of etiologic diagnosis significantly. Conclusion : Possible etiology was determined in about 23% of the subjects. The most important part of the assessment for the identification of etiology is thorough history taking, physical and neurologic examination. Neuroimaging study is useful in case of micro or macrocephaly, focal neurologic signs. Genetic studies increasingly produce a yield, when there is family history of inherited disorder and there are dysmorphic features. Routine metabolic screening test has limited utility. Development of a useful screening protocol adequate for Korean situation is required.
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1. College of Medicine (의과대학) > Dept. of Psychiatry (정신과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Young Key(김영기)
Song, Dong Ho(송동호) ORCID logo https://orcid.org/0000-0002-9647-3130
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