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So far Andrew Hidas has created 13 blog entries.

The Challenges of Klinefelter’s

“The Klinefelter Syndrome: Current Management and Research Challenges”—From the scientific journal, Andrology, this article summarizes the concluding “Round Table Discussion” of the 2nd International Workshop on the Klinefelter Syndrome in Munster, Germany, March, 2016. Topics include syndrome characteristics, centers of competence for diagnosis and treatment, counseling, support groups, early screening, fertility, testosterone treatment, and basic research. Click here.

See also: Speaker Abstracts from the 2nd International Workshop on Klinefelter Syndrome March 2016 Münster, Germany.

Categories: 47,XXY (Klinefelter)|

The Triple X Syndrome Phenotype

“Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis” —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Click here.

Categories: 47,XXX (trisomy x)|

Guide to Trisomy X

Guide to Trisomy X (booklet)

Date of Publication: 2011

Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College conducted a study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study is this educational booklet for parents to give their daughter when they first tell her about Trisomy X.

 

Categories: 47,XXX (trisomy x)|

Sibling Support

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

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.

Categories: 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

Read more

Categories: 47,XXX (trisomy x)|

New Guide Offers Road Map To IEP Process

Date of Publication: August 2011

Reported in Disability Scoop
Click here to view guide produced by Autism Speaks Family Services

Categories: All Variations|

Temper Tantrums

Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

http://online.wsj.com/article/SB10001424052970203716204577018223567068482.html?mod=ITP_personaljournal_0

Forget everything you may have read about coping with children’s temper tantrums. Time-outs, sticker charts, television denial—for many, none of these measures will actually result in long-term behavior change, according to researchers at two academic institutions.

Whether a child has violent temper tantrums or is extremely clingy, their behaviors can be curbed, according to child psychologists at Yale University and King’s College London.

Instead, a set of techniques known as “parent management training” is proving so helpful to families struggling with a child’s unmanageable behavior that clinicians in the U.S. and the U.K. are starting to adopt them.

Aimed at teaching parents to encourage sustained behavior change, it was developed in part at parenting research clinics at Yale University and King’s College London.

Even violent tantrums, or clinging to the point of riding on a parent’s leg, can be curbed, researchers say.

Read more

Categories: All Variations|

ADHD – More research from the team at the eXtraordinarY Kids Clinic in Denver

Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Tartaglia, Nicole R. MD; Ayari, Natalie BA; Hutaff-Lee, Christa PhD; Boada, Richard PhD

Link to article:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348431/pdf/nihms363084.pdf

Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|

What are the treatments for symptoms in Klinefelter syndrome (KS)?

Last Updated Date: 11/15/2013

It’s important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.1

The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated.2 It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.

The type of treatment needed depends on the type of symptoms being treated.

Read more

Categories: 47,XXY (Klinefelter)|

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

Tartaglia, Ayari, Howell, D’Epagnier, Zeitler
ePublished: April 9, 2011

ABSTRACT
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.

CONCLUSION:
The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.

Read the entire original article here.

Categories: 48,XXYY, Other Variations|Tags: |