Discriminant analysis of the Ullrich‐Turner syndrome neurocognitive profile
Identifieur interne : 00BB14 ( Main/Exploration ); précédent : 00BB13; suivant : 00BB15Discriminant analysis of the Ullrich‐Turner syndrome neurocognitive profile
Auteurs : Judith L. Ross [États-Unis] ; Harvey Kushner [États-Unis] ; Andrew R. ZinnSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-10-31.
Abstract
Ullrich‐Turner syndrome (UTS), or monosomy X, is a genetic disorder characterized by short stature, gonadal dysgenesis, and a particular neurocognitive profile of normally developed language abilities (particularly verbal IQ) and impaired visual‐spatial and/or visual‐perceptual abilities. The most frequently described profile in UTS includes difficulty with tasks involving memory and attention, decreased arithmetic skills, and impaired visual spatial processing. We used discriminant function analysis (DFA) to distinguish between the neurocognitive profiles of girls with UTS vs. controls matched for age, height, IQ, and socioeconomic status. DFA is a statistical method for deriving a linear function that optimally weights parameters to permit sensitive and specific differentiation among groups. We developed a modified discriminant function, based on seven cognitive test scores, that successfully discriminated between the UTS and control subjects with a sensitivity of 0.45 and a specificity of 0.97. To validate its performance, we applied the discriminant function to a small group of 45,X UTS subjects (n = 13) and control female subjects (n = 25), ages 7–16 years, who were not part of the previous analyses. The discriminant function (DF) identified 54% of these 13 UTS subjects as having the “UTS neurocognitive profile” and 92% of the 25 control subjects as not having the profile. We also compared the DF scores of UTS girls with various mosaic karyotypes and found that the group with 46,XX mosaicism had significantly higher scores (i.e., closer to normal controls) than the other two mosaic groups (t = 2.86, P < 0.005). The results of this study should be useful for genetic counseling and planning educational programs for girls with UTS. Am. J. Med. Genet. 72:275–280, 1997. © 1997 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19971031)72:3<275::AID-AJMG4>3.0.CO;2-Q
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Zinn</name><affiliation><wicri:noCountry code="subField">Dallas</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">72</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="275">275</biblScope><biblScope unit="page" to="280">280</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1997-10-31">1997-10-31</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Ullrich‐Turner syndrome (UTS), or monosomy X, is a genetic disorder characterized by short stature, gonadal dysgenesis, and a particular neurocognitive profile of normally developed language abilities (particularly verbal IQ) and impaired visual‐spatial and/or visual‐perceptual abilities. The most frequently described profile in UTS includes difficulty with tasks involving memory and attention, decreased arithmetic skills, and impaired visual spatial processing. We used discriminant function analysis (DFA) to distinguish between the neurocognitive profiles of girls with UTS vs. controls matched for age, height, IQ, and socioeconomic status. DFA is a statistical method for deriving a linear function that optimally weights parameters to permit sensitive and specific differentiation among groups. We developed a modified discriminant function, based on seven cognitive test scores, that successfully discriminated between the UTS and control subjects with a sensitivity of 0.45 and a specificity of 0.97. To validate its performance, we applied the discriminant function to a small group of 45,X UTS subjects (n = 13) and control female subjects (n = 25), ages 7–16 years, who were not part of the previous analyses. The discriminant function (DF) identified 54% of these 13 UTS subjects as having the “UTS neurocognitive profile” and 92% of the 25 control subjects as not having the profile. We also compared the DF scores of UTS girls with various mosaic karyotypes and found that the group with 46,XX mosaicism had significantly higher scores (i.e., closer to normal controls) than the other two mosaic groups (t = 2.86, P < 0.005). The results of this study should be useful for genetic counseling and planning educational programs for girls with UTS. Am. J. Med. Genet. 72:275–280, 1997. © 1997 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region></list><tree><noCountry><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R." last="Zinn">Andrew R. 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