Library

Article Title: Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY

Authors: Jeannie Visootsak, John M. Graham, Jr.

Date of Publication: September 2, 2009

Abstract:

Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.

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Article Title: Executive Function…What is this anyway?

Author: Chris A. Zeigler Dendy, M.S.

Date of Publication: 2011

This article is not specific to X and Y conditions but it does present useful information about executive skills and how challenges in this area can impact kids in school.

Excerpt:
“Clearly school is often very difficult for students with attention deficits. However, when executive function deficits are also present, the accompanying problems are often overwhelming to the student and family. Unfortunately, some parents and teachers have had little awareness or sympathy for the challenges presented by these combined deficits. Hopefully, teachers and parents now realize that attention deficit disorder is often a very complex condition….when deficits in executive function and related learning problems are present, students can try their very best and still not succeed in school.”

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Children who have X and Y chromosome variations have more frequent dental problems.  Those who have 47,XXY, in particular, often have a dental condition called taurodontism, which makes them more prone to tooth decay and other problems.

There is a possible relationship between bottled water, which typically does not contain added fluoride, and an epidemic of tooth decay in young children. Municipal tap water, on the other hand, is typically fluoridated and offers protection against tooth decay.

If your child drinks bottled water, and if you have no objections to fluoridated water, you may wish to consider shifting to tap water in a refillable water bottle.  If you are concerned about the quality of your tap water, Consumer Reports recently published a comprehensive report offering a number of excellent choices for inexpensive, highly effective water filters – priced from $15, a cost that will be quickly offset by savings on bottled water, and you’ll be helping the environment in the process.

If you are concerned about bisphenol-A in some older plastic water bottles, there are numerous sources for inexpensive, BPA-free refillable water bottles.  Here’s a link on Amazon for illustrations:  amzn.to/HW7vBL

More Information:
CDC Information (revised)
Update  courtesy of TimberCrest Dental Center
NY Times Article
Study: Oral Health Improving for Most Americans, But Tooth Decay Among Preschool Children on the Rise

Article Title: Gambling Addiction Explained?

Author: Deborah Brauser

Date of Publication: October 30, 2012

Gambling Addiction research report from the 25th European College of Neuropsychopharmacology (ECNP) Congress.

Very interesting research on compulsive gambling. May have direct implications for some of the continued impulsive behavior activities sometimes seen with XXY and other SCA conditions. Also note the author’s comment at the end…he seems to feel cognitive behavior therapy and building other brain connectivity is the better treatment approach versus expecting drugs to “fix” things.

-Gary (Chair, AXYS Board of Directors)

VIENNA, Austria — Pathological gamblers may have abnormally increased reward expectancy, making them “overoptimistic with regard to gambling outcomes,” new research shows.

Investigators at the Amsterdam Institute for Addiction Research, in the Netherlands, used functional magnetic resonance imaging (fMRI) to assess brain activity in 15 participants with gambling problems and 16 without. They found that those with a gambling addiction had significantly more activation in the brain’s reward areas than those without.

“When the brain responds to a higher degree to potential rewards, it may trigger increased propensity to gamble,” coinvestigator Anna E. Goudriaan, PhD, told attendees here at the 25th European College of Neuropsychopharmacology (ECNP) Congress.

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The database of CHROMOSOMAL VARIATION IN MAN consists of a systematic collection of important citations from the world’s literature reporting on all common and rare chromosomal alterations, phenotypes, and abnormalities in humans. The database is organized by variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. It contains over 24,000 entries updated continuously since 1974.