Vol. 68, No. 6
521
Down's Syndrome: A Study of Clinical Features* DHARMDEO N. SINGH, Ph.D., Diagnostic and Training Laboratory, Department of Pediatrics, Meharry Medical College, Nashville, Tennessee
F OR the first time in 1866, Langdon and Down described the condition, termed it "Mongolian Idiocy," which characterized these patients as having the physical appearance of Mongols and the mental behavior of idiots.1 The physical similarity among mongoloids has been exaggerated to such an extent that some actually believe that parents of mongoloids may have difficulty in recognizing their own child in a group of mongoloid children.2 Now we know that there is a wide range of variability in every single physical and developmental characteristic of mongoloids as well as in the sum total of such characteristics in each individual case.3-5 However, we are convinced that mongoloids differ from one another at least to the same degree that normal individuals do, and in many respects, to a far greater extent. Recent studies show that there is no one mongoloid characteristic that occurs in every child. An attempt was made in the present study to narrow down the number of variables to those that were most useful as signs in detecting Down's syndrome. MATERIALS & METHODS
In this study, 110 consecutive patients with mongolism were selected from the Coastal Center and Moseley Clinic of the State Department of Mental Retardation in Ladson and Charleston, South Carolina. Chromosome analyses were made in all the cases and were found to have 47 chromosomes with trisomy 21. The presence of 29 *Supported in part by U.S. Public Health Service Grant No. 440 from the Health Services and Mental Health Administration.
different physical abnormalities were recorded along with each individuals' race and sex. There were 60 males, of which 11 were black, and 50 females, of which 7 were black. In some cases, complete histories were not available so percentages were used throughout the tables. RESULTS
A total of (30 X 30)/2 = 465 correlations shown in 2 X 2 tables, were obtained from the 31 variables. In each case, a chisquare statistic was calculated and the number of times it equalled or exceeded 1.642, for which the value of P is 0.20, was recorded. The variables, excluding sex and race, were then ordered in Table 1 according to which ones had the highest number of significant chi-square values; the number of correlations are listed in the second column. Sex and race, which had nine and 10 correlations respectively, were excluded as a matter of convenience in constructing the table. Variables 23 through 29 were then eliminated using the argument that type I error alone would have produced such significant correlations. Variable 2 was also removed since it was felt that the high number of correlations were probably a result of the small number of observations on lung diseases. The remaining 21 variables lent themselves to a principal component analysis. Thus, the conclusions from Table 1 is that the lower numbered variables with large interaction number are more highly correlated with all the others and are probably more important in detecting whether or not a child is mongoloid. The following ten
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521
Down's Syndrome: A Study of Clinical Features* DHARMDEO N. SINGH, Ph.D., Diagnostic and Training Laboratory, Department of Pediatrics, Meharry Medical College, Nashville, Tennessee
F OR the first time in 1866, Langdon and Down described the condition, termed it "Mongolian Idiocy," which characterized these patients as having the physical appearance of Mongols and the mental behavior of idiots.1 The physical similarity among mongoloids has been exaggerated to such an extent that some actually believe that parents of mongoloids may have difficulty in recognizing their own child in a group of mongoloid children.2 Now we know that there is a wide range of variability in every single physical and developmental characteristic of mongoloids as well as in the sum total of such characteristics in each individual case.3-5 However, we are convinced that mongoloids differ from one another at least to the same degree that normal individuals do, and in many respects, to a far greater extent. Recent studies show that there is no one mongoloid characteristic that occurs in every child. An attempt was made in the present study to narrow down the number of variables to those that were most useful as signs in detecting Down's syndrome. MATERIALS & METHODS
In this study, 110 consecutive patients with mongolism were selected from the Coastal Center and Moseley Clinic of the State Department of Mental Retardation in Ladson and Charleston, South Carolina. Chromosome analyses were made in all the cases and were found to have 47 chromosomes with trisomy 21. The presence of 29 *Supported in part by U.S. Public Health Service Grant No. 440 from the Health Services and Mental Health Administration.
different physical abnormalities were recorded along with each individuals' race and sex. There were 60 males, of which 11 were black, and 50 females, of which 7 were black. In some cases, complete histories were not available so percentages were used throughout the tables. RESULTS
A total of (30 X 30)/2 = 465 correlations shown in 2 X 2 tables, were obtained from the 31 variables. In each case, a chisquare statistic was calculated and the number of times it equalled or exceeded 1.642, for which the value of P is 0.20, was recorded. The variables, excluding sex and race, were then ordered in Table 1 according to which ones had the highest number of significant chi-square values; the number of correlations are listed in the second column. Sex and race, which had nine and 10 correlations respectively, were excluded as a matter of convenience in constructing the table. Variables 23 through 29 were then eliminated using the argument that type I error alone would have produced such significant correlations. Variable 2 was also removed since it was felt that the high number of correlations were probably a result of the small number of observations on lung diseases. The remaining 21 variables lent themselves to a principal component analysis. Thus, the conclusions from Table 1 is that the lower numbered variables with large interaction number are more highly correlated with all the others and are probably more important in detecting whether or not a child is mongoloid. The following ten
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