Monthly Archives: January 2016


Featured Research Papers by Month



Executive Function 101

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.


Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

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.


47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

XYY Study Day Report

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.


A New Look at XXYY Syndrome: Medical and Psychological Features

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.


Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis

This month’s research paper focuses on Trisomy […]

2018-09-30T17:03:36+00:00Categories: All Variations|Tags: |