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.
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.
• 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.)
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.
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.
In 2015, the AXYS Board of Directors voted to approve funds to help develop the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to organize, fund and expand a clinical consortium that operates as independent clinics which collaborate with one another, share informational resources, 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 SCA community.
One goal of AXYS is to ensure that all families impacted by X and Y chromosome variations have access to the best available evaluation and treatments. The ACRC is an important means of achieving that goal.
For help in determining which clinic might be most appropriate for you or your family, please read the following and/or call us at 1-888-999-9428.
Types of Clinics
Due to the many X and Y Chromosome variations, not all clinics specialize in all conditions. Below is a listing of ACRC clinics. The specific conditions and patient ages served by the clinic are noted in the description.
Some clinics are multidisciplinary in their services. A multidisciplinary clinic provides a comprehensive, integrated approach to caring for individuals. Patient visits are organized to provide access to all necessary medical, psychological, and therapy disciplines in one visit. Professionals then meet, discuss each case, then collaborate to develop a fully coordinated care plan tailored to the patient. Some clinics also provide “take-home” materials for local medical, therapy and school professionals. Please review each clinic’s website and/or description of its services for information regarding its specific approach to seeing patients. If unsure about the types of services provided, be sure to ask at the time an appointment is scheduled.
Wilmington Nemours Alfred I. duPont Hospital for Children: eXtraordinarY Kids Clinic X and Y variations seen: All Ages seen: Prenatal to young adulthood Medical Director: Judith Ross, MD Appointments/Clinic Coordinator: Karen Kowal, 215-955-9008, firstname.lastname@example.org Clinic website | Clinic brochure
Atlanta Emory University: The eXtraordinarY Clinic at Emory University X and Y variations seen: All Ages seen: Birth to young adulthood Medical Director: Amy L. Talboy, MD Appointments: 404-778-1363 or 800-366-1502 Website
Chicago Rush University Medical Center X and Y variations seen: All Ages seen: Birth to young adulthood Medical Director: Elizabeth Berry-Kravis, MD, PhD Clinic Coordinator: Angel Wang Appointments: Yasmin Roman, 312-942-3034
Baltimore Johns Hopkins: 47,XXY Klinefelter Syndrome Center X and Y variations seen: Klinefelter syndrome; male infertility. Ages seen: Children and adults Medical Director: Adrian Dobs, MD Appointments: Hopkins USA Concierge Service, 855-695-4872 (Monday-Friday, 8 a.m. – 6 p.m. EST) Clinic website
Boston MassGeneral Hospital Klinefelter Syndrome Clinic X and Y variations seen: Klinefelter syndrome (47,XXY), 47,XYY, 48,XXYY, 48,XXXY, and other male X and Y chromosome variations Ages seen: Prenatal through adulthood Medical Director: Frances High, MD, PhD and Frances Hayes, MBBCh, BAO Appointments/Clinic Coordinator: Ashley Wong, MS, CGC, 617-398-0019, email@example.com For MGH Trisomy X care, call Medical Genetics at 617-726-1561 Clinic website
New York City Weill Cornell Medicine Klinefelter Syndrome Clinic, Weill Cornell Medical College X and Y variations seen: All Ages seen: Birth to young adulthood Co-Directors: Lilian Cohen, MD MPH (Genetics) and Peter Schlegel, MD (Urology) Clinic Coordinator: Lilian Cohen, MD MPH Clinic website
Cleveland eXtraordinarY Kids Care at Cleveland Clinic X and Y Variations seen: XXY and other X & Y variations Ages seen: Prenatal to young adulthood Medical Director: Andrea Mucci, MD Appointments/Clinic Coordinator: Stephanie LeMasters, 216-444-7987 Clinic website
Philadelphia Children’s Hospital of Philadelphia: Klinefelter and All XY Variations Program X and Y variations seen: All Ages seen: Prenatal to young adulthood Medical Director: Maria Vogiatzi, MD Clinic Coordinator: Michelle McLoughlin, MSN, CRNP, CPNP-AC Appointments: Meagan Snow-Bailey, 215-590-3174 Clinic website
The following clinics primarily focus on a single issue associated with having an X or Y variation and may not necessarily provide the comprehensive evaluation and treatment recommendations provided by the multidisciplinary clinics. If you’re unsure about the types of services provided, be sure to ask at the time you schedule your appointment.
Vancouver, British Columbia Flannigan Fertility – Reproductive Medicine X and Y variations seen: Male Infertility and Sexual Medicine. Genetic disorders leading to male infertility such as Klinefelter Syndrome, mixed gonadal dysgenesis (45X, 46XY), CFTR mutations leading to male infertility. Dr. Flannigan performs sperm retrievals, and fertility management. Ages seen: Post-pubescent adult population Medical Director: Ryan Flannigan, MD, FRCSC Appointments: Judy Chiu, 604-875-5003 More information by email: firstname.lastname@example.org Clinic website
Winston-Salem Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine X and Y variations seen: 47,XXY, 48, XXYY and other male gonadal dysgenesis (Puberty and fertility preservation management for X and Y variations) Ages seen: Children, adolescents and adults Medical Director: Hooman Sadri-Ardekani, MD, PhD Other faculty: Stanley J Kogan, MD and Stuart S. Howards, MD Appointments: 336-716-4131 More information by E-mail: email@example.com Clinic website
Research is the lifeblood of all medical conditions that stand to be improved as we learn more about them. No serious advance can be made against diseases without carefully constructed scientific research. Research helps raise awareness, inspire hope, and lead to early diagnosis and effective treatments.
Many studies on X and Y variations take place simultaneously at research centers around the world. If you want to know more about individual studies, scroll down the page and click on the website or email links directing you, or simply follow the instructions listed for each study.
If you are new to these conditions and the nature of clinical trials, click here for more information.
Post New Trials
If you are the Principal Investigator or other responsible person for a study that you believe may be applicable to one or more of the X and Y variations that AXYS serves, we would be happy to post information concerning your research on our website.
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.