In the fall of 2018, AXYS worked with the authors of this survey/study to disseminate it as widely as possible throughout the worldwide X and Y variation community. Additionally, one of the authors, Megan Allyse, PhD, participated in both the AXYS family conference and in the AXYS Clinic & Research Consortium meetings. Her participation in these AXYS meetings added background and greater context to the development of the survey, ensuring that it addressed many of the overriding concerns and issues that the community has identified. AXYS is pleased to see that this article has been published and our board and staff will use it to help guide our ongoing efforts to improve knowledge about, and treatment for, all X and Y variations.
Featured Video of the Month
This month’s research paper is a new study released by Dr. Sophie van Rijn from Leiden University in the Netherlands. She continues to provide more insight into the relationships between an extra x chromosome and social anxiety and social cognition, as well as the potential impact of testosterone on both of those areas. These findings can lead to more research and possible treatment alternatives that could impact quality of life. The distinction between social cognition and social anxiety is important for parents and professionals to understand.
Research has shown that a high percentage of individuals with x and y chromosome variations often have one or more characteristics associated with ADHD. Other research has shown that a high percentage of ADHD individuals may also have secondary conditions that can benefit from treatment. These conditions would include depression, anxiety, learning disabilities, language disabilities, executive function difficulties and others. This month’s featured research article provides more information about these relationships and secondary conditions.
The December Featured Research article is a very recent paper from the Klinefelter adult specialty clinic in Denmark. Dr. Gravholt and his team examined the relationships between personality traits, social engagement, and anxiety & depression symptoms among KS patients. Their research suggests that neuroticism may play a central role in attention switching, anxiety and depression among patients with Klinefelter syndrome. The central role of neuroticism suggests that it may be used to help identify and treat KS patients at particularly high-risk for attention switching deficits, anxiety and depression and could be very helpful in designing interventions and programs to significantly help these individuals.
We are also including several papers that may help explain more about neuroses, neuroticism and treatment suggestions.
The suggested Featured Research paper this month is actually a link to the 10-part series of booklets on the AXYS website titled Transitioning to Adulthood (located under the Resources tab). This series provides excellent information for all parents/individuals trying to understand or respond to the challenges that can be associated with this transition. It was originally written for the 48,XXYY population but it has broad applicability to any person or family that may be struggling with various issues associated with any SCA condition. We highly recommend reviewing this information for everyone with teenagers that may have an X or Y chromosome variation.
This month’s research paper is actually an e-book published by The National Center for Learning Disabilities titled Executive Function 101. This is such a critical area for both children and adults and we believe it is frequently under-diagnosed and under-recognized by many health and education professionals that are working with SCA individuals. It is important that parents and SCA individuals learn more about the underlying brain functions that are associated with executive skills and take steps to improve and develop these skills. They are extremely important for general social functioning, learning, working and relationships and it will be very helpful to read and consider some of the suggestions that are presented in this book. There are also many papers and other books on Executive Function that you can find in the AXYS library as well. The more you know, the better you will be able to assist your child or get others to understand how to help.
The featured research paper this month comes from some of the top experts in the world that specialize in X and Y chromosome variations. Dr. Judy Ross at Nemours and Dr. Nicole Tartaglia and her colleagues at the eXtraordinarY Kids Clinic at Denver Children’s Hospital have been at the forefront of X and Y research for many years and have published numerous papers that have been a huge support to the X and Y community around the world. We highly recommend that everyone read the document and then share it with your personal health care providers, schools, family members and others to help them better understand Klinefelter Syndrome and be able to provide the best possible support when appropriate.
The focused research topic this month involves the XYY genetic signature. The two resources listed provide a good overview but are a little dated. There have been a number of research papers published in the past 4-5 years but most of these focus on one particular aspect of XYY and are often combined with other SCA conditions to show comparisons and contrasts. The attached papers here will hopefully provide a general overview for newly diagnosed kids and their families.
Our featured research paper for July is a focused review on XXYY that was authored by a multi-professional team of XXYY experts led by Dr. Nicole Tartaglia from the eXtraordinarY Kids Clinic in Denver. This is an older paper but still very helpful for families with a newly diagnosed child. More research is continuing (slowly) with XXYY and we hope to see updated articles in the near future. Please take a look in the AXYS library for additional resources on XXYY in the publications and professional video sections.
This month’s research paper focuses on Trisomy X Syndrome (47,XXX). This is a fairly common genetic condition in females, with an estimated 1:1000 live birth frequency, almost as often as Klinefelter Syndrome in males. The paper was authored by the specialty clinic team associated with the eXtraordinarY Kids Clinic at Colorado Children’s Hospital and contains an excellent summary of the characteristics, related conditions and suggested treatment interventions.
There are two excellent resource guides for testosterone use in androgen deficiency that have been released in the past year. One is published by the Endocrinology Society in the US and the other is from the European Society of Endocrinology. They can be very useful information guides and helpful to review questions with your personal physician.
This month’s featured research paper is actually Virginia Cover’s excellent resource book that has been in the AXYS library for a number of years but we felt it was important to put it in the spotlight again for parents and individuals dealing with x and y chromosome variations. It provides invaluable information that will help you better understand these conditions and should be used to learn more about ways to support growth and development as well as teaching others (doctors, schools, family and friends) about the challenges that may be involved. We highly recommend reading this book and making sure others are aware of the information it contains.
Comprehensive and interdisciplinary research paper on recent developments in genetic, endocrine and neurocognitive science relative to KS. It contains very strong, scientific language that would be appropriate and useful in providing education and information for health professionals that are involved with care and treatment of KS individuals. AXYS strongly recommends that parents and individuals share and review this paper with their personal physicians.
Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies (from thelancet.com/neurology)
This month’s paper, by Drs. Reiss and Hong at Stanford University and first published in 2014, is a strong science-based discussion on the impact of XXY and XYY on cognitive and neurological functions. It can be difficult to interpret all the information provided, but it is an excellent research article for other health and education professionals to help them understand the neurophysiology involved and why individuals with challenges may require special diagnoses and treatment. We often hear reports from families and individuals that health professionals do not seem to be aware of current research involving non-medical aspects of SCA conditions so this definitely should be shared with physicians, teachers and others involved in any treatment or support programs. It also reinforces why it can be so important to have evaluations completed at specialty clinics by experienced clinicians.
The featured research paper this month comes from one of the top teams in the world that specialize in X and Y chromosome variations. Dr. Nicole Tartaglia and her colleagues at the eXtraordinarY Kids Clinic at Denver Children’s Hospital have been at the forefront of X and Y research for many years and have published numerous papers that have been a huge support to the X and Y community around the world. We highly recommend that everyone read the document and then share it with your personal health care providers, schools family members and others to help them better understand the condition and be able to provide the best possible support when appropriate. And as always, please contact us if you have any questions or need more information or look at the AXYS library for more papers and professional videos on topics of interest.