Early Developmental and Clinical Characteristics of Autism Spectrum Disorders

PURPOSE: Current evidence of the benefits of early intensive behavioral intervention (EIBI) in children with autism spectrum disorders(ASD) is increasing. In order to get the benefits from EIBI, early identification of ASD is essential but a challenge for clinicians. Therefore, we designed this study to know what differs from other developmental disorders in terms of early developmental patterns and clinical and laboratory characteristics. METHODS: Among 518 children diagnosed developmental delay in Ilsan Hospital Developmental Disorder Clinic from April 2001 to January 2005, we analyzed 122 ASD patients as a study group, and 133 mentally retarded(MR) and 101 specific language impaired(SLI) patients as control groups. We used a questionnaire survey to assess past and family history. We performed various kinds of tools for the evaluation of the development, and cognitive and speech functions according to the patients' age. MRI, SPECT, EEG, genetic and metabolic studies were performed as optional tests. RESULTS: The mean age of ASD was 55.9+/-30.7 months and male was predominant in ASD(male:female ratio was 3.2:1). In early developmental history, motor functions are relatively well preserved in ASD(P<0.05). In speech and social milestones, single word speech was noticeably delayed in all the 3 groups. However, there was no appreciable difference in stranger anxiety among the 3 groups. In the developmental evaluation, speech and social functions were most significantly delayed in ASD(P<0.05). There was a significant motor delay in ASD and MR than SLI(P<0.05). In physical examination, a raised rate of macrocedphaly in ASD was not noted. Abnormal EEG findings were significantly noted in ASD and MR than in SLI and MRI abnormalities were least found in these groups. The etiologic diagnosis was much less identified in ASD than MR. CONCLUSION: In an early stage, absence of stranger anxiety was not statistically significant. However, this seems to be an important risk factor for predicting ASD. Motor functions were relatively well preserved in ASD in an early stage. In the developmental evaluation, social and language areas were the most significantly delayed domains in ASD and motor functions were most delayed in MR. Routine MRI studies are not indicated for identifying the etiology in ASD. It was harder to find out the etiology in ASD than MR.

Multidisciplinary Diagnostic Approach and Etiologic Evaluation of Patients with Developmental Disorders

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.

Giant Coronary Aneurysm with Stenosis and Thrombus Formation due to Kawasaki Disease: Treatment with Graft Stent

Kawasaki disease is an acute systemic vasculitis of unknown origin. Coronary aneurysm or ectasia is one of the most serious complications of Kawasaki disease. The major complication of Kawasaki coronary disease is myocardial infarction caused by thrombus formation inside the aneurysm or by organic obstructive lesion following the regression of aneurysm. Percutaneous balloon angioplasty, rotational ablation, directional coronary artherectomy, stent insertion and coronary artery bypass graft can be used to treat coronary artery stenosis or occlusion. We describe a 6-year old boy who had an episode of Kawasaki disease with giant coronary artery aneurysm diagnosed at the age of 3 years. Surveillance echocardiogram showed giant coronary aneurysm with stenosis and large mural thrombus in the proximal portion of left main coronary artery. So we inserted two polytetrafluoroethylene(PTFE) covered graft stent without complication.