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1. |
In memoriam: Isabelle Oberlé |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 1-2
Jean‐Louis Mandel,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320430102
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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2. |
In memoriam: Michael S. Krawczun, Ph.D., D.A.B.M.G. [1952–1991] |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 3-4
Edmund C. Jenkins,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320430103
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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3. |
Fifth international workshop on the fragile X and X‐linked mental retardation |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 5-27
Jean‐Louis Mandel,
Randi Hagerman,
Ursula Froster,
W. Ted Brown,
Edmund C. Jenkins,
Patricia Jacobs,
Gillian Turner,
Herbert Lubs,
Giovanni Neri,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320430104
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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4. |
Longitudinal changes in IQ among fragile X males: Clinical evidence of more than one mutation? |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 28-34
G. S. Fisch,
L. R. Shapiro,
R. Simensen,
C. E. Schwartz,
J. P. Fryns,
M. Borghgraef,
L. M. Curfs,
P. N. Howard‐Peebles,
T. Arinami,
A. Mavrou,
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摘要:
AbstractLongitudinal changes in IQ among mentally retarded (MR) fragile X [fra(x)] males have been reported previously. While age is associated with decline in IQ, not all males are so affected. This suggests that there may be more than one subtype of affected fra(X) male. Therefore, we examined the distribution of standardized difference scores (Zdiff) in IQ to determine if subjects were from an admixture of at least 2 populations. Cluster analysis of Zdiff scores was used to partition subjects into 2 groups. Goodness‐of‐fit tests indicated that scores were more likely to come from an admixture. Discriminant functions (DF) were calculated to determine predictive validity of Zdiff scores. To eliminate the effect of skewing, a power transform was applied to Zdiff scores and DFs recomputed. Zdiff and transformed scores provided similar results. The mean and variance for one group showed no differences in test‐retest scores as would be expected from examining any population while the mean for the second group indicated significant decline in IQ nearly 4 standard errors below the first test score. These results suggest that there may be clinical evidence for 2 types of fra(X) mutation: One which causes MR but is static, and a second mutation which causes MR but is dynamic and contributes to an apparent longitudinal decline in cognitive fun
ISSN:0148-7299
DOI:10.1002/ajmg.1320430105
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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5. |
Behavioral phenotype of fragile X syndrome: DSM‐III‐R autistic behavior in male children |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 35-46
Allan L. Reiss,
Lisa Freund,
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摘要:
AbstractComparison of 34 fragile X [fra(X)] male children (age 3–18 years) with 32 IQ‐ and age‐matched, non‐fra(X) male control children was conducted using specific DSM‐III‐R criteria for autism. Statistical analyses supported predictions that fra(X) males show increased dysfunction in peer social play, nonverbal communication (e.g., gaze aversion, gesturing), verbal communication (e.g., rate, volume, word/pharse perseveration), and repetitive motor behaviors (e.g., handflapping, rocking). There was a trend for fra(X) children to show abnormal responsivity to sensory stimuli as well such as oversensitivity to sound and increased mouthing or smelling of objects. The investigation supports the contention that fra(X) males manifest a specific subset of behaviors from the autistic spectrum. Implications for treatment ar
ISSN:0148-7299
DOI:10.1002/ajmg.1320430106
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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6. |
Is autism associated with the fragile X syndrome? |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 47-55
Gene S. Fisch,
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摘要:
AbstractIn addition to mental retardation (MR), fragile X [fra(X)] has been associated with other developmental disabilities, autism in particular. Recently, several studies have concluded that the association of fra(X) with autism is at best weak and perhaps nonexistent. This study examined reports of previously published data from an epidemiological perspective to determine if the prevalence of fra(X) among autistic males was significantly different from that among MR males. Nineteen studies of autistic males and 21 studies of MR males were analyzed from 59 examined. Of 5601 MR males tested, 307 (5.5%) were cytogenetically positive. Of 1006 autistic males, 54 (5.4%) were positive. Analysis indicated no statistical difference between these proportions (Z=0.014; p>.50). An odds ratio (OR) was also computed to determine the risk of autism from fra(X). Estimated OR≈︁1.0 [0.73, 1.32]. Attributable risk (AR), the proportionate excess risk of autism associated with exposure to fra(X) was AR≈︁0.0. That is, there was no attributable risk of autism from fra(X). The association of fra(X) with autism may reflect the association with MR that generally accompanies autism, as several earlier reports have noted. However, the similarity in prevalence of fra(X) among autistic and MR males may be biased in that studies which find no instances of fra(X) among autistic males represent 12% of the pooled
ISSN:0148-7299
DOI:10.1002/ajmg.1320430107
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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7. |
Behavior phenotype of the fragile X syndrome |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 56-60
Stewart Enifeld,
Wayne Hall,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320430108
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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8. |
Brief screening questionnaire for determining affected state in fragile X Syndrome: A consensus recommendation |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 61-64
Allan L. Reiss,
Carlo Cianchetti,
Ira L. Cohen,
Bert Devries,
Randi Hagerman,
Veronica Hinton,
Ursula Froster,
Ave Lachiewicz,
Michele Mazzocco,
William Sobesky,
Vicki Sudhalter,
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摘要:
AbstractNew molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene (s), particularly for molecular studies of patients who do not have obvious mental retardation. This report describes a brief screening questionnaire designed to increase the detection of neurobehavioral dysfunction in individuals from fragile X families who are included in new molecular studies. Improved detection of the affected state in fragile X syndrome will allow more valid clinical data to be correlated with the important molecular information currently being collected.
ISSN:0148-7299
DOI:10.1002/ajmg.1320430109
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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9. |
Expressive semantic deficit in the productive language of males with fragile X syndrome |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 65-71
Vicki Sudhalter,
Maria Maranion,
Patricia Brooks,
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摘要:
AbstractEleven males with fragile X syndrome [fra(X)] between the ages of 6 and 41, with an average communication age of 4 years 4 months and 11 normally developing 4 year old boys were administered a sentence completion task that assessed expressive semantic competence. The fra(X) males produced significantly more semantic errors than the normally developing 4 year children. Additionally, it was shown that sentences which could be correctly completed by a wider choice of words affected fra(X) males more than the nondisabled children. These 2 results suggests that the expressive semantic system is an area of specific deficit in fra(X) males.
ISSN:0148-7299
DOI:10.1002/ajmg.1320430110
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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10. |
Abnormal behaviors of young girls with fragile X syndrome |
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American Journal of Medical Genetics,
Volume 43,
Issue 1‐2,
1992,
Page 72-77
Ave M. Lachiewicz,
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PDF (473KB)
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摘要:
AbstractMothers of 38 young girls with fragile X [fra(X)] between the ages of 4 and 11 years filled out the Child Behavior Checklist. Forty‐seven percent of the girls had T scores>70 on the hyperactive and social withdrawal scales. Between 26% and 15% of the girls also had high T scores on the depressed scale, on the schizoid‐obsessive scale (for 6 to 11 year olds), on the schizoid on anxious scale (for 4 and 5 year olds), and on the aggressive scale. Although a high score on a scale of the Child Behavior Checklist does not constitute a medical diagnosis, it can alert clinicians to abnormal behaviors that warrant further assessment. These behaviors may also alert the clinician to the possibility of fra(X) syndrome when they are seen in their patients. The high percentage of girls with fra(X), who seem to have abnormal behaviors, provides good reason to diagnose them in their early years, not just for genetic counseling purposes, but so that they can receive appropriate intervention servi
ISSN:0148-7299
DOI:10.1002/ajmg.1320430111
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1992
数据来源: WILEY
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