All Variations

In response to:
“New Tests for Newborns, And Dilemmas for Parents” by Amy Dockser Marcus
Wall Street Journal, July 26, 2011

“Test Can Tell Fetal Sex at 7 Weeks, Study Says” by Pam Belluck
NY Times, August 9, 2011

AXYS submitted this letter to the editor:

“AXYS serves individuals who have one of the most prevalent and yet confoundingly unknown genetic conditions, sex chromosome aneuploidy.  The most common of these conditions is 47,XXY, also known as Klinefelter Syndrome. There are many other aneuploidies, affecting 1 in 500 males and females in total.  Life is certainly worth living for these individuals.  Early diagnosis leads to effective interventions that vastly improve lives, yet the majority of individuals with these conditions go undiagnosed for years—even a lifetime.  Misdiagnosis and resulting mistreatment are common and lead to unwarranted suffering.  One man spent 52 years diagnosed with bipolar disorder only to discover by accident he is 47,XXY.  He was transformed from suicidal to exuberant when he received the right treatments.  Undiagnosed individuals are susceptible to myriad comorbid conditions, such as heart disease and cancers, which can strike by surprise.  Those with an accurate diagnosis can watch for and address these problems before they become life-threatening. AXYS strongly urges rapid development and deployment of early diagnostic testing to detect these conditions.  In the case of X and Y chromosome variations, ignorance most definitely is NOT bliss.”

Please support our effort by submitting your letter to the Wall Street Journal at these two email addresses:

• wsj.ltrs@wsj.com
• edit.features@wsj.com
• letters@nytimes.com

AXYS was founded on the response to a letter to Ann Landers sent by our founder, Melissa Aylstock.  David Drexler, a long-time volunteer with AXYS and member of our communications committee, has written a beautiful, compelling letter to Dear Abby.  Please write to Dear Abby and share your letter with us.

David’s letter:

Dear Abby,

I’m writing you today to alert your readers to chromosome anomalies that affect one in five hundred people, male and female. Although they are the most common of the chromosome anomalies they are also seldom diagnosed, most often by amniocentesis or in a fertility workup.

Every cell of a normal body has 23 pairs of chromosomes and on those chromosomes are the genes that control who and what we are. The sex chromosomes (23^rd pair) dictate sex. A normal male has XY chromosomes and a normal female has XX. For reasons we don’t know, in some cases there are more than two sex chromosomes with an extra X, called 47,XXY or just XXY. There can also be more than two Xs and more than one Y for example trisomy X or 47,XXX.

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www.socialmotionskills.org/

From their website description:

We are 100% Social & Life Skills

• We focus SOLELY on social skills training and learning of mainstream activities – for children and adolescents with social & learning deficits and autism spectrum disorders
• We’re serious about social behavior modification. We offer the quantity and quality of practice sessions necessary to effectuate real change
• We are your relentless persistence partner. Without a commitment to persistent practice, social skills will not be internalized
• We are the only one. There is no other program like us in Houston or its surrounding areas.

Title: Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

Author: Shirley S. Wang

Date of Publication: November 8, 2011

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Article Title: Understanding and Modifying the Behavior of Boys with XXYY: A Guide for Parents and Professionals

Author: Karen Riley, PhD

Date of Publication: 2007

This paper was originally commissioned by the XXYY Project.  At the urging of Dr. Riley, the XXYY Project has generously shared their valuable “Behavior Paper” with AXYS.

While this paper focuses on the behavioral profile of XXYY, it will prove very valuable for any child who is experiencing behavior issues.  This paper provides step-by-step instructions for coping with behavioral issues that many children with X and Y chromosome variations may experience to one degree or another.

We urge you to review this document and generally substitute your child’s condition for XXYY.  In most cases, the fit is very good.

Once again, we offer our sincere thanks to the XXYY Project for sharing this important work with the AXYS community.

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Title: How many genomes do you have?

Author: John Rennie

Date of Publication: November 29, 2011

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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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