2016 - Page 6 of 15 - The Association for X and Y Chromosome Variations

Gambling Addiction Research

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.

Rick Frith2018-07-21T21:31:16-04:00Categories: All Variations|

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies

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.

Rick Frith2018-07-21T21:42:25-04:00Categories: All Variations|

NORD Praises SSA for Expanding Program to Help People with Devastating Diseases

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.

Read more

Rick Frith2018-07-21T21:45:47-04:00Categories: All Variations|

VIDEO: Visualizing Nondisjunction

Video that illustrates the process of nondisjunction: click here.

Rick Frith2018-07-22T15:14:14-04:00Categories: All Variations|

Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies

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

Rick Frith2018-07-22T15:23:02-04:00Categories: All Variations|

Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder

Article Title: Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder

Authors: Nancy Raitano Lee, Gregory L. Wallace, Liv S. Clasen, Rhoshel K. Lenroot, Jonathan D. Blumenthal, Samantha L. White, Mark J. Celano, and Jay N. Giedd

Date of Publication: February 2011

Abstract: Deficits in executive function (EF) are reported to occur in individuals with Klinefelter syndrome (XXY). The degree of impairment, if any, is variable and the nature of these deficits has not been clearly elucidated in young males. In this report, we (a) examine EF skills using multiple tasks in a non-clinic referred group of youth with XXY, (b) describe the extent of EF weaknesses in XXY when this group is compared with typical males of a similar SES or typical males with similar verbal abilities, and (c) evaluate the contribution of comorbid attention-deficit/hyperactivity disorder (ADHD) to EF skills. The sample included 27 males with XXY (ages 9–25), 27 typically developing age- and vocabulary-matched males, and 22 age- and socioeconomic status-matched males. EF tasks included Verbal Fluency, the Trail Making Test, and the CANTAB Spatial Working Memory and Stockings of Cambridge tasks. Mixed model analysis of variance was used to compare the groups on EF tasks and revealed a main effect of group but no group by task interaction. Overall, the XXY group performed less well than both control groups, but performance did not differ significantly as a function of task. ADHD comorbidity in males with XXY was related to poorer EF skills.

Rick Frith2022-02-25T17:08:06-05:00Categories: 47,XXY (Klinefelter)|Tags: ADHD|

Johns Hopkins Klinefelter Syndrome Center

The mission of the Klinefelter Center: To provide compassionate and comprehensive medical and surgical care for XXY males by medical professionals with expertise in the various aspects of Klinefelter Syndrome. Services are available for all ages from young boys to adult men.

Click here for brochure.
Click here for clinic website.

Dr. Adrian Dobs, head of the clinic, has produced a webinar for AXYS and she has presented at conferences.

Rick Frith2018-07-22T15:37:50-04:00Categories: 47,XXY (Klinefelter)|

Life and Intersex: An Interview with Jim Bruce and Eden Atwood of the Interface Project

Ann Szalda-Petree interviews intersex activists Jim Bruce and Eden Atwood about living life with an intersex condition. Eden and Jim highlight the social and medical oppression people with intersex conditions have traditionally received, as well as provide hope for change in the future.

Click here to listen to this web-radio interview

Rick Frith2018-07-22T15:38:55-04:00Categories: 47,XXY (Klinefelter)|

Birth of 16 healthy children after ICSI in cases of non-mosaic Klinefelter syndrome

Article Title: Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome

Authors: E. Greco, F. Scarselli, M.G. Minasi, V. Casciani, D. Zavaglia, D. Dente, J. Tesarik, G. Franco

Date of Publication: March 14, 2013

KS patients undergoing testicular sperm extraction (TESE) are capable of conceiving healthy children.

Rick Frith2018-07-22T15:48:18-04:00Categories: 47,XXY (Klinefelter)|

Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome

Article Title: Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome

Author: Matthew S. Wosnitzer et al

Date of Publication: January 18, 2013

47, XXY or Klinefelter syndrome (KS), the most common chromosomal aberration in males, is characterized by either absolute or relative hypogonadism with frequent decline in serum testosterone (T) following the onset of puberty. Decreased T levels are the result of testicular dysfunction with decrease in size of Leydig cells, and loss of germs and Sertoli cells leading to tubular hyalinization. Increase in estradiol results from over-expression of aromatase CYP19. Deficient androgen production and observed varied response of end-organs to T leads to delayed progression of puberty with decreased facial/body hair, poor muscle development, osteoporosis, and gynecomastia. It is possible that hypogonadism and excessive estradiol production contribute to emotional and social immaturity, and specific learning disabilities in KS. Based on the authors’ experience and literature review, early fertility preservation and hormonal supplementation may normalize pubertal development, prevent metabolic sequelae of hypogonadism, and have a positive effect on academic and social development. No randomized clinical trials are available studying the effects of T supplementation on reproductive or cognitive issues in KS. Aggressive T supplementation (topical gel) and selective use of aromatase inhibitors may be considered at the onset of puberty with careful follow-up and titration to reach age-specific high-normal physiologic serum values. The decision to institute hormonal therapy should be part of a multidisciplinary approach including physical, speech, behavioral, and occupational therapy.

Rick Frith2023-01-06T12:11:46-05:00Categories: 47,XXY (Klinefelter)|