Abstract
We investigated the possibility that fra(X) heterozygotes had a distinct or specific set of mental deficits ('cognitive profile') which would allow for accurate diagnosis. Wechsler Intelligence Scale for Children-Revised (WISC-R) subtest scores obtained on 8 fra(X) school age girls were compared with similar scores obtained on 8 'learning-disabled' non fra(X) girls matched on the basis of Full Scale IQ (FSIQ). The Block Design subtest score was significantly lower in fra(X) girls. In a larger sample of 22 fra(X) females, a characteristic combination of low Arithmetic, Digit Span, and Block Design subtest scores was observed. The mean discrepancy between these 3 subtest scores from the total Verbal or Performance subtest means was significant for the fra(X) group but not for a comparison group of 20 learning-disabled females. Verbal IQ (VIQ) and Performance IQ (PIQ) discrepancy was not significant in fra(X) females. Percent fra(X) positive cells was negatively correlated with VIQ and FSIQ but not with PIQ. This distinct cognitive profile suggests that the presence of the fra(X) gene causes a specific set of focal deficits. This profile, and the physical, behavioral, and emotional characteristics associated with the fra(X) syndrome, were found in several fra(X) females with normal FSIQs (>85). Our sample represents a spectrum of clinical involvement that extends from obvious degrees of impairment to normal intellectual function.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 139-156 |
| Number of pages | 18 |
| Journal | American Journal of Medical Genetics |
| Volume | 23 |
| Issue number | 1-2 |
| State | Published - 1986 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics(clinical)
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Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra(X) females. / Kemper, M. B.; Hagerman, Randi J; Ahmad, R. S.; Mariner, R.
In: American Journal of Medical Genetics, Vol. 23, No. 1-2, 1986, p. 139-156.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra(X) females
AU - Kemper, M. B.
AU - Hagerman, Randi J
AU - Ahmad, R. S.
AU - Mariner, R.
PY - 1986
Y1 - 1986
N2 - We investigated the possibility that fra(X) heterozygotes had a distinct or specific set of mental deficits ('cognitive profile') which would allow for accurate diagnosis. Wechsler Intelligence Scale for Children-Revised (WISC-R) subtest scores obtained on 8 fra(X) school age girls were compared with similar scores obtained on 8 'learning-disabled' non fra(X) girls matched on the basis of Full Scale IQ (FSIQ). The Block Design subtest score was significantly lower in fra(X) girls. In a larger sample of 22 fra(X) females, a characteristic combination of low Arithmetic, Digit Span, and Block Design subtest scores was observed. The mean discrepancy between these 3 subtest scores from the total Verbal or Performance subtest means was significant for the fra(X) group but not for a comparison group of 20 learning-disabled females. Verbal IQ (VIQ) and Performance IQ (PIQ) discrepancy was not significant in fra(X) females. Percent fra(X) positive cells was negatively correlated with VIQ and FSIQ but not with PIQ. This distinct cognitive profile suggests that the presence of the fra(X) gene causes a specific set of focal deficits. This profile, and the physical, behavioral, and emotional characteristics associated with the fra(X) syndrome, were found in several fra(X) females with normal FSIQs (>85). Our sample represents a spectrum of clinical involvement that extends from obvious degrees of impairment to normal intellectual function.
AB - We investigated the possibility that fra(X) heterozygotes had a distinct or specific set of mental deficits ('cognitive profile') which would allow for accurate diagnosis. Wechsler Intelligence Scale for Children-Revised (WISC-R) subtest scores obtained on 8 fra(X) school age girls were compared with similar scores obtained on 8 'learning-disabled' non fra(X) girls matched on the basis of Full Scale IQ (FSIQ). The Block Design subtest score was significantly lower in fra(X) girls. In a larger sample of 22 fra(X) females, a characteristic combination of low Arithmetic, Digit Span, and Block Design subtest scores was observed. The mean discrepancy between these 3 subtest scores from the total Verbal or Performance subtest means was significant for the fra(X) group but not for a comparison group of 20 learning-disabled females. Verbal IQ (VIQ) and Performance IQ (PIQ) discrepancy was not significant in fra(X) females. Percent fra(X) positive cells was negatively correlated with VIQ and FSIQ but not with PIQ. This distinct cognitive profile suggests that the presence of the fra(X) gene causes a specific set of focal deficits. This profile, and the physical, behavioral, and emotional characteristics associated with the fra(X) syndrome, were found in several fra(X) females with normal FSIQs (>85). Our sample represents a spectrum of clinical involvement that extends from obvious degrees of impairment to normal intellectual function.
UR - http://www.scopus.com/inward/record.url?scp=0022571185&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022571185&partnerID=8YFLogxK
M3 - Article
C2 - 3953643
AN - SCOPUS:0022571185
VL - 23
SP - 139
EP - 156
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 1-2
ER -