All Variations

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.

Compassionate Allowances Program Provides Expedited Disability Review for Patients with Severely Disabling Diseases

Some individuals with X and Y chromosome variations qualify for Social Security benefits for disability. It’s no surprise that the Compassionate Allowances Program does not list X and Y chromosome variations as qualifying conditions.  This will not apply to many, but for those who have other severely disabling conditions in addition to their X and Y chromosome variation, you may find help here.

From NORD’s press release:

Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), today praised Social Security Commissioner Michael Astrue and his staff for proactively establishing and expanding a program that “demonstrates true compassion for Americans with seriously disabling rare diseases.”

Saltonstall made his remarks at a Capitol Hill event at which Commissioner Astrue announced the addition of 35 diagnoses, several of which are rare, to the Compassionate Allowances Program.  This is a program established by the Commissioner and his staff to quickly identify diseases that meet Social Security disability standards so that patients with devastating diseases may receive their benefit decision within days rather than months or years.

The program is especially important for people with rare diseases that are not well known or widely understood, Saltonstall said.

“As the president of NORD, I represent the 30 million Americans with rare diseases, as well as their families and caregivers,” he noted.  “Rare diseases tend to be severe and chronic, and many people affected by these diseases struggle with overwhelming medical and financial challenges.”

…The program doesn’t guarantee approval for disability benefits but rather an expedited review so that individuals with diagnoses on the list receive fast-track review and are notified of the final decision within days rather than months or years.

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Video that illustrates the process of nondisjunction: click here.

Article Title: Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders

Authors:  Nancy Raitano Lee, Gregory L. Wallace, Elizabeth I. Adeyemi, Katherine C. Lopez, Jonathan D. Blumenthal, Liv S. Clasen, and Jay N. Giedd

Date of Publication: 2012

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Article Title: What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study

Authors: Lenore Abramsky, Sue Hall, Judith Levitan, Theresa M. Marteau

Date of Publication: February 24, 2001

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Accessible Tools for Leadership and Advocacy Success

From our partners at Genetic Alliance, a great tool for navigating the challenges of advocacy for individuals with special needs in the USA:
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SDI stands for Specially Designed Instruction. It is anything specific and unique to your child–determined by their areas of need, to help them access their education. It is based on the evaluations done on your child, to determine their areas of need. SDIs are used to help your child achieve the goals listed in the IEP. Most SDIs should be applied across all environments, not in just one class or classroom. They are adaptations or modifications to the regular curriculum. SDIs are in place to help your child reach their IEP goals and objectives.

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