Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
| Status: | Withdrawn |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | 2 - 21 |
| Updated: | 4/21/2016 |
| Start Date: | June 2006 |
| End Date: | August 2008 |
Klinefelter syndrome, a congenital chromosomal abnormality with one or more extra X
chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present
with a 47, XXY karyotype. The "poly-X variant", with the 49,XXXXY karyotype is uncommon.
This syndrome, where subjects have two or more X chromosomes presents with primary
hypogonadism, and, particularly if associated with the 49,XXXXY karyotype, significantly
impacts life skills across a variety of dimensions, including areas of communication,
community use, functional academics, home/school living, health and safety, leisure,
self-care, self direction, and work. Adaptive behavior abnormalities in 46,XXY men are well
known and described. In the poly-X variant of the 49,XXXXY karyotype, adaptive behavior
abnormalities are expected to be much more significant, making these patients eligible for
services and Social Security benefits.
In 49,XXXXY men no study to date has examined these areas of inquiry in a large patient
population, using a psychometrically sound instrument in a large patient population. Current
publications are limited to individual case reports or small case summaries. It is important
to study the adaptive behavior in its highly abnormal presentation in 49,XXXXY men in order
to learn more about the effect of additional X chromosomes on adaptive skills, which
determine how an individual responds to daily demands and in order to develop treatment and
training goals.
chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present
with a 47, XXY karyotype. The "poly-X variant", with the 49,XXXXY karyotype is uncommon.
This syndrome, where subjects have two or more X chromosomes presents with primary
hypogonadism, and, particularly if associated with the 49,XXXXY karyotype, significantly
impacts life skills across a variety of dimensions, including areas of communication,
community use, functional academics, home/school living, health and safety, leisure,
self-care, self direction, and work. Adaptive behavior abnormalities in 46,XXY men are well
known and described. In the poly-X variant of the 49,XXXXY karyotype, adaptive behavior
abnormalities are expected to be much more significant, making these patients eligible for
services and Social Security benefits.
In 49,XXXXY men no study to date has examined these areas of inquiry in a large patient
population, using a psychometrically sound instrument in a large patient population. Current
publications are limited to individual case reports or small case summaries. It is important
to study the adaptive behavior in its highly abnormal presentation in 49,XXXXY men in order
to learn more about the effect of additional X chromosomes on adaptive skills, which
determine how an individual responds to daily demands and in order to develop treatment and
training goals.
Inclusion Criteria:
- Any Klinefelter male with proven 49,XXXXY karyotype, who does not present with and is
not being treated for significant physical/mental illness which might affect his
adaptive behavior, who or whose parent or primary caretaker is able to provide
informed consent to participate in the study and who or whose parent or primary
caretaker has adequate command of the English language, to provide meaningful
information will be invited to participate in this study.
We found this trial at
1
site
750 Highland Avenue
Madison, Wisconsin 53792
Madison, Wisconsin 53792
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