2016 - Page 2 of 15 - The Association for X and Y Chromosome Variations

An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

Article Title: An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Authors: Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen

Date of Publication: 2009

“The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders.”

Rick Frith2018-09-05T13:57:19-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

General Support for Parents

Recommended Reading: Tips From Parents and Adults for the benefit of others

A Different Kind of Perfect: Writings by Parents on Raising a Child with Special Needs by Cindy Dowling
More about the Book
About the Author

Note: These are unofficial recommendations from parents who have found these books, articles, websites and other resources helpful in some way. When possible, we will provide an Amazon.com link for ease of purchase, a link to the description of the book, and a link to a description of the author. Unless otherwise stated, AXYS is not involved in the sale, and we recommend that you shop around before making your purchase.

2016-11-11T02:41:41-05:00Categories: All Variations|

A Review of Trisomy X (47, XXX)

Article Title: A review of trisomy X (47,XXX)

Authors: Nicole Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, and Lennie Wilson

Date of Publication: May 2010

“Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population.”

Rick Frith2023-01-14T17:25:56-05:00Categories: 47,XXX (trisomy x)|Tags: Trisomy X Overview|

EEOC Announces Final Bipartisan Regulations for the ADA Amendments Act

These changes to US laws and regulations may be helpful to those of you who are seeking disability benefits or protections:

EEOC Announces Final Bipartisan Regulations for the ADA Amendments Act

The U.S. Equal Employment Opportunity Commission’s (EEOC) final regulations to implement the ADA Amendments Act (ADAAA) are now available on the Federal Register website. Like the law they implement, the regulations are designed to simplify the determination of who has a “disability” and make it easier for people to establish that they are protected by the Americans with Disabilities Act (ADA).

2016-11-11T02:42:04-05:00Categories: All Variations|

Clothing for Kids Who Have Sensory Issues

Some children have severe sensory issues. There are many resources for special clothing for these children. These two sources were recommended by a mom.

Her comment: “Here are a couple of links to some places that sell shirts with NO TAGS, and FLAT SEAMS and socks WITH NO SEAMS!”

http://www.softclothing.net/
http://www.sensorystorecanada.com/ (Note: This resource may be temporarily unavailable–“closed for renovations” 8/4/11)

Important Note: AXYS does not endorse or vet resources of this type. We do not receive any compensation for posting these links, nor do we get any portion of their sales. They are shared simply as an FYI. Please shop carefully.

2016-11-11T02:42:37-05:00Categories: All Variations|

Neurocognitive research on 47,XXY

Title: Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome

Authors: Daniel H. Geschwind and Elisabeth Dykens

Date of Publication: 2004

This is one of the “gold standard” research articles on 47,XXY neurocognitive implications. It contains pretty intense medical terminology but it would be recognized as excellent resource/reference material by physicians, educators, the courts, etc. It should help parents and others understand there are absolutely biological issues involved with potential problem behaviors that may be happening with someone that is 47,XXY.

Rick Frith2018-07-09T17:06:37-04:00Categories: 47,XXY (Klinefelter)|

Comparing 47,XXY and 47,XYY boys

Title: An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Authors: Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen

Date of Publication: December 2009

A research article on comparing the similarities and differences in boys with 47,XXY and 47,XYY from a neurocognitive testing standpoint.

Rick Frith2018-07-09T17:10:53-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

Complexities of Hypogonadism

Article Title: Complexities of Hypogonadism

Author: Dr. Poochellam Muthalagu

Date of Publication: June 30, 2011

Dr. Poochellam Muthalagu looks at the primary and secondary reasons for hypogonadism and examines the different treatments available in this country.

Male hypogonadism is a clinical syndrome defined by low testosterone levels associated with sexual dysfunction, particularly diminished libido, mood disturbances, reduced lean body mass and increased adipose tissue mass.

A wide range of effective and well-tolerated treatment options exist. These include testosterone (T) gels and T patches. There is also a mucoadhesive sustained-release buccal tablet, but this is not available in Ireland. Intramuscular testosterone injections and subcutaneous depot implants (T pellets) are still the standard therapy.

Testosterone replacement therapy (TRT) can be individualised to enhance patient health and wellbeing. Screening and ongoing monitoring are necessary to ensure both the efficacy and safety of TRT, particularly prostate safety. Investigational agents, including selective androgen receptor modulators, may offer new pharmacodynamic and/or pharmacokinetic properties that enhance outcomes of TRT.

Male hypogonadism is defined as the failure of the testes to produce androgen, sperm or both. Although the disorder is exceedingly common, its exact prevalence is uncertain.

Testosterone production declines with advancing age; some 20 per cent of men older than 60 years and 30-40 per cent of men older than 80 years have serum testosterone levels that would be subnormal in their younger adult male counterparts.

This apparent physiologic decline in circulating androgen levels is compounded in frequency by permanent disorders of the hypothalamic-pituitary-gonadal axis. These include the transient deficiency states associated with acute stressful illnesses, such as surgery and myocardial infarction, and the more chronic deficiency states associated with wasting illnesses, such as cancer and acquired immunodeficiency syndrome (AIDS).

Rick Frith2018-09-25T12:03:51-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Article Title: Klinefelter syndrome and other sex chromosomal aneuploidies

Author: Jeannie Visootsak and John M. Graham Jr.

Date of Publication: October 24, 2006

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

Rick Frith2018-09-06T12:19:54-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Resource: Independent Publishers of Accessible Books That Make a Difference

Recognized as the leading publisher on autism and Asperger syndrome, they publish in a range of areas including social work, education and arts therapies.

Jessica Kingsley Publishers books are for parents, professionals, academics and general readers.

2016-11-11T02:50:36-05:00Categories: All Variations|