AXYS Consensus Documents

Consensus-based recommendations from the AXYS Clinic & Research Consortium

Click or tap on a title below to view/download the document in PDF format.

2020-12-31T16:15:39-05:00

AXYS Klinefelter Syndrome CME Course

CME Course Title: Klinefelter Syndrome: Identifying, characterizing and managing an underdiagnosed condition with serious consequences

Course Directors: Hooman Sadri, MD, PhD and Stuart Howards, MD

Reviewed by the AXYS Clinic & Research Consortium (ACRC)

Date: October 2020

“Introduction:

Have you unknowingly seen someone with Klinefelter Syndrome in your practice?

Chances are, you have. Klinefelter Syndrome (KS) is the most common sex chromosome disorder, occurring in approximately 1 out of every 600 male births. Yet an estimated 60 to 75% of those with KS will remain undiagnosed throughout their lifetimes.

Why does this matter?

It matters because KS is linked to significantly higher mortality rates and a range of physical, neurocognitive, and social/behavioral comorbidities as well as a lower quality of life and socioeconomic status. Some healthcare providers believe that delayed diagnosis can increase patient morbidity. And it matters because those with KS are getting lost in our healthcare system. Studies show that the majority of individuals with KS report being dissatisfied with their care. In addition, many with KS and their families find that their providers have outdated information about the condition, or little information at all. By learning more about the many facets of KS, providers across the healthcare system can work together to better treat and support those with this condition and their families.”

Read more

2020-11-28T15:55:52-05:00Categories: 47,XXY (Klinefelter), Resources|Tags: |

AXYS 2021 Virtual Family Conference

AXYS 2021 Virtual Family Conference Logo

June 21 — June 27, 2021

The conference will have several types of sessions: 

Welcome and Open House Sessions on Monday. These are sessions where you can feel free to drop by and say hi, and stay as long as you wish. See old friends and make new ones.

Can We Chat Sessions are similar to the Zoom chats we’ve been having regularly since last spring. These sessions will not be recorded, so attendees can speak freely, ask questions openly, and have deep discussions. There will be a moderator for each of these sessions and lots of time to ask questions. What is discussed in the “Can We Chat” sessions is private to those who attend.

Lecture Sessions are very much like our webinars, but shorter. An expert will give a 20 minute presentation followed by 20 minutes of Q&A.

We will also have an Introduction Session on Saturday June 19 for those newly diagnosed and those attending an AXYS conference for the first time.


We’re so happy you can join us! A quick reminder that all AXYS event attendees agree to abide by the AXYS Activities Conduct Policy. Please read this prior to attending an AXYS event.

2021-06-08T13:48:18-04:00

Education

Resources from the May 2020 webinar “Schools Out! Now What?”

Most children and adolescents whose development is affected by having an X or Y variation are eligible for special education services. A federal law, the Individuals with Disabilities Education Act (IDEA) includes a variety of safeguards and options including Part C which provides for services to children birth to 3 years of age, and Part B which mandates a free public education for children with special needs who qualify from the ages of 3 to 21.

IDEA requires a multidisciplinary evaluation to determine if the child qualifies for special education services. This means that professionals from a variety of fields (medicine, psychology, occupational therapy, etc.) and the parents of the child collaborate to assess the child’s strengths and needs and determine appropriate educational services.

Every child eligible for special education has either an Individualized Family Service Plan (IFSP, for children birth to age 3), or an Individualized Education Program (IEP, for children age 3-21). Both programs specify the details of a child’s educational plan.

Intervention varies and is based upon the child’s individual needs. Areas that may be addressed include: speech and language, cognition, behavior, sensory-motor and academics. Settings range from home-based programs for infants to a variety of school-based classrooms for older children and adolescents.

Resources

This section provides a series of links to other resources that may be useful to some persons dealing with X and/or Y aneuploidy conditions (see definition below). AXYS is aware that there is wide variability in the signs and symptoms associated with these conditions and not everyone will require the same resources. However, we’re hopeful that a number of these resources may be useful to a significant percentage of this population.

• ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

• Everything You Never Knew About the ADHD Brain

• Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do

• The Brain-Behavior Connection In Children with ADHD

• IDEA—the Individuals with Disabilities Education Act | Center for Parent Information and Resources

• Understanding Tests and Measurements for the Parent and Advocate

• National Center for Learning Disabilities

• Depression and Bipolar Support Alliance (DBSA)

• Think College – College Options for People with Intellectual Disability

• PACER Center

• Wrightslaw: Special Education Law, 2nd Edition
By Peter W.D. Wright & Pamela Darr Wright

• Special Education Law, 3rd Edition
By Nikki L. Murdick & Barbara C. Gartin, et al.

• Steps to Independence: Teaching Everyday Skills to Children with Special Needs
By Bruce L. Baker & Alan J. Brightman

• 1001 Great Ideas for Teaching and Raising Children with Autism or Asperger’s, Revised and Expanded 2nd Edition
By Ellen Notbohm & Veronica Zysk, et al.

• Autism: Asserting Your Child’s Rights to a Special Education
By David A. Sherman

• Functional Behavior Assessment for People With Autism: Making Sense of Seemingly Senseless Behavior
By Beth A. Glasberg

• Inclusive Programming for High School Students with Autism or Asperger’s Syndrome: Making Inclusion Work for Everyone! [Paperback]
By Sheila Wagner

• The Power to Spring Up: Postsecondary Education Opportunities for Students with Significant Disabilities
By Diana M. Katovitch

• Realizing the College Dream with Autism or Asperger Syndrome: A Parent’s Guide to Student Success
By Ann Palmer

• Self-Help Skills for People with Autism: A Systematic Teaching Approach
By Stephen R. Anderson, Amy L. Jablonski, et al.

• Visual Supports for People with Autism: A Guide for Parents and Professionals
By Marlene J. Cohen & Donna L. Sloan

About Homeschool

Homeschool.com

Home School Legal Defense Association
(The HSLDA is a legal support organization that specializes in home school issues and offers some free resources. However, please be aware that they may suggest that you become a paid member to receive full service and information. Users should be aware of their model and proceed accordingly.)

The Home School Mom

Homeschool Central (Additional resources for special needs)

Time4Learning

• SEA Homeschoolers (Secular, Eclectic, Academic): They hold conferences, workshops, webinars, and have a very helpful website covering most aspects of homeschooling including transitioning out of high school to whatever comes next.

Most states have Facebook groups for homeschoolers; for example Delaware has groups for all homeschoolers (Homeschool Delaware) and for specifically secular homeschoolers (Delaware Secular Homeschoolers) to offer support, organize live, in person classes, arrange meet ups and park days and field trips, organize laboratory classes, discuss scholarships, local laws, swap materials at lower cost, and more.

• The Well-Trained Mind: From the author of “Rethinking School” and featuring some really innovative approaches for different types of learners, this site includes sections for children with learning differences (See the section on “Differences, Disorders, and Disabilities”) and giftedness as well as the average kid. The author, Susan Wise Bauer, literally wrote THE major book on homeschooling (“The Well Trained Mind”) and it is popular with both religious and secular families for providing ideas about thinking about education as well as practical, everyday strategies for making a homeschool plan.  The author is a professor at the College of William and Mary, homeschools her own kids, and was homeschooled herself.  Related to this site The Well-Trained Mind Academy, which offers live online classes in most middle and high school subjects for a pricey, but generally worthwhile fee.  In those classes, students receive graded papers, instructor feedback, and classroom interaction online.  The author has written some specific curricula that seems to suit kids with issues such as dysgraphia and writing difficulty, too— I’m a big fan of her elementary program, “Writing With Ease.”

• Online G3 is a site for online homeschool courses for gifted kids (because yes, kids with X and Y variations can also be educationally gifted despite their learning differences— this is called being 2E, or “twice-exceptional”).  This site is unique in that it provides good course descriptions for its live, interactive classes taught by experienced teachers, then allows parents to make the decision about whether a particular class is right for their child— no expensive test or proof is required.  It is recommended that parents be realistic, as the classes will appeal more to gifted kids who tend to “drive the bus” than to reluctant learners, but for the right kid, they are fun, encouraging, interactive, varied, and challenging.

• Bravewriter offers online classes and curriculum for purchase for teaching by the parent for helping anxious writers or encouraging the aspiring author.  Online classes encourage kids to comment (kindly) on one another’s work, even if a particular student is only typing out one or two-sentence responses at first, and the instructors ask questions to help draw out more detailed answers, conversationally, in a message-board format.

• CK-12 is a FREE website with high-quality textbooks available online, with many upper-level books including lab manuals and teacher manuals as well (also free). Because the books are online, they include embedded media. Parents can sign up for a teacher account and create a program to assign to their kids and monitor progress, or do it more informally.

There are other resources available, and one of the parents of an XXY child has offered to help other parents looking for more information. You can reach Jen Driscoll at XXYMidAtlantic@gmail.com  with questions.

• Physical Education for Students with Disabilities: Wrightslaw (if page does not open in browser, remove “https” from the URL in the address bar)

• 7 Ways to Include a Student with Special Needs in Physical Education

• Adapted Physical Education Guidelines
Note: While these guidelines are specific to California schools, we think readers may find them helpful no matter where you live.

Apple in Education

Assistive Technology for Education – iOS /Android/Chrome Apps & Browser Extensions

Moms With Apps

Aneuploidy

(an·eu·ploi·dy) (an-yu-“ploi-dE)

In everyone’s body, each cell contains tiny twisted strings of molecules called chromosomes that contain genes, which in turn tell cells how they will grow and what they must do.  Typically, humans have 23 pairs of chromosomes (46 chromosomes in the aggregate), and each parent commonly contributes one chromosome to each pair.  These chromosomes are numbered and arranged when they are analyzed by labs in a test known as a karyotype.  The 23rd pair, for example, are known as the sex chromosome pair.  Except in certain instances of X and/or Y chromosome aneuploidy, a mother and father each contribute a single sex chromosome to the child. Thus, girls commonly have two X chromosomes (one from mother and one from father), while boys commonly have one X (from mother) and one Y (from father) chromosome.

Occasionally, a cell division anomaly known as “non-disjunction” may result in some (in the case of mosaicism) or all cells having 44, 45, 47, 48 or 49 chromosomes.  These chromosomal states in which one or more whole chromosomes are either missing or are present in more than the typical number are referred to as an “aneuploidy” or plural, as “aneuploidies.”

Special thanks to the National Fragile X Foundation for the use of some content.
Disclaimer: AXYS provides the above information to assist families and professionals in providing the best, possible educational experience for children with an X or Y variation. Inclusion in this list of resources does not imply endorsement by AXYS of any product or service and parents are encouraged to fully research products and services before making any commitments or purchases.

2021-01-07T16:18:06-05:00

Clinics

ACRC Logo

Since 2015,  the scientists and researchers of the AXYS Clinic and Research Consortium (ACRC) collaborate, share information, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the X & Y variation community.

2019 ACRC Meeting
2021-01-03T16:57:52-05:00

Research and Clinical Trials

research3

Toward Better Diagnosis and Care

AXYS shares research opportunities with our community that we feel benefit those with X&Y variations and their families. All requests to share a research opportunity are carefully reviewed by our board and medical experts. Many studies on X&Y variations take place simultaneously at research centers around the world.

We are sharing this article on Clinical Studies from NIH to help you learn more about clinical trials.

Post New Trials

If you are the Principal Investigator or other responsible person for a study that you believe may be beneficial to individuals with one or more of the X&Y variations that AXYS serves, follow the instructions on this page

Specific Research Announcements

For a regularly updated list of specific research recruiting announcements that are open and actively recruiting families, please click here.

2021-01-06T12:59:27-05:00

Prior Conferences

Every two years, AXYS sponsors a conference that brings together those with an extra X or Y chromosome variation, their parents or other family members, researchers, medical professionals and others. The conference features individual presentations, panel discussions, and plentiful opportunity for informal discussion and support on a wide range of matters relevant to our members and friends. Much of the material is of a timeless nature that can be highly informative and helpful to those new to the field.

2019 AXYS Family Conference, Atlanta, Georgia

2017 AXYS Family Conference, Aurora, Colorado

2015 AXYS Family Conference, Baltimore, Maryland

2013 AXYS Family Conference, Denver, Colorado

2021-01-14T15:23:03-05:00
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