XXYY Syndrome is a sex chromosome variation. It affects only males, about one in every 17,000. There are several types of these variations with different resulting set of characteristics. 48,XXYY was recently thought to be a variant of Klinefelter Syndrome but that has been called into question by some experts.
XXYY has certain characteristics. A child may or may not have all of them. These characteristics are often similar to other disorders and are why it is so hard to get a child properly diagnosed. With this disorder being so rare, many physicians are unfamiliar with it and don’t typically test for it when these symptoms present as a group: (list is from the XXYY Project website).
• Developmental delays
• Speech impairment
• Tall, considering family history
• Behavior outbursts & mood swings
• Learning disabilities
• Intellectual impairment
• ADD symptoms
• Autism, autism spectrum, PDD-NOS
• Scoliosis
• Clinodactyly (Curved-in pinky fingers)
• Low muscle tone
• Flat feet
• Infertility
• Delayed sexual development
• Tremor, tics
• Significant dental problems
• Radioulnar synostosis
• Congenital heart defects
The cause is not known as very little research has been conducted in this area. The treatments consist of treating the characteristics or symptoms. The XXYY Project, based in Denver, CO, has been working diligently to help parents around the world whose boys have this variation.
Because this affliction is often misdiagnosed, parents can struggle for a lifetime before they find answers, like Sue and Kevin did with their son, Patrick. You can read his story here
Sometimes the diagnosis comes relatively early but even then the struggles will last a lifetime. Like most people who work with and for The XXYY Project, Melanie's son, Aidan, has 48xxyy and kindly told us about her son. You can read those questions and answers here.
Diagnosing XXYY requires a genetic blood test called a Karyotype. This is the only way to know whether or not a boy has XXYY syndrome (or similar variations).
Renee Beauregard, Founder of the XXYY Project recently answered questions about this disorder and the project.
Q: What is the XXYY Project and how did it start?
The mission of the XXYY Project is to build the capacity of parents and service providers to assist males with XXYY Syndrome in leading purposeful, productive lives.
The XXYY Project was founded in November 2003. It was organized by founding members of the XXYY Parent Network, an informal association of parents, founded in 1998. The XXYY Parent Network started with 4 parents who found one another on the Internet. Now, the XXYY Project serves 230+ families.
Q: What is/are the main goal(s) of the Project?
1. Increase awareness about XXYY Syndrome.
2. Locate and provide families with the resources they need to meet their educational, community and medical needs.
3. Support medical research and treatment for children with X and Y chromosome variations.
Q: How are those goals achieved?
The programs of the XXYY Project include fostering medical research, family support and advocacy, individual empowerment training, building support systems between affected individuals and their families, sibling support, and public awareness.
1. Online Parent Support Group (Yahoo Group: http://groups.yahoo.com/group/xxyyparentnetwork/) and online resource library.
2. The XXYY Project has been instrumental in the creation of The eXtraordinarY Kids Clinic, a medical home for all people with X and Y chromosome variations, at The Children's Hospital in Denver. The XXYY Project helps provide funding for research and provides financial assistance to families of XXYY boys and men to help them pay for treatment at the clinic.
3. Each year, we hold an annual symposium that is a combination of "family reunion" and educational opportunity. The symposium provides a place where boys and men with XXYY Syndrome can make life-long friends.
4. Our ConneXYons program provides parents with help in obtaining services.
5. We are currently working on a project to provide housing for adults with XXYY.
Q: Where does your funding come from?
The XXYY Project does not receive any public funding. Funds are raised from donations from families of males with XXXY and other concerned individuals. The XXYY Project has also received grants from various foundations. Readers can donate by visiting this page.
Q: If a parent's child has recently been diagnosed with XXYY, what would be the first thing you'd tell him or her?
It depends on where they are in their journey. Parents along different points of the journey (and the ages of their children) will dictate the type of support they would receive.
For instance, expectant parents have a lot of questions that need answering. We do not sugarcoat these answers but we do our best to give answers that are positive in nature as there is hope. These parents are trying to understand the implications of the diagnosis, and to ascertain what resources they would need to raise the child. We let them know what types of supports we offer to help them to raise their child. We provide one-on-one support via phone and email.
Parents of young boys are dealing with lots of doctor’s appointments and know that something is wrong with their son and want answers. These parents are often grieving over the loss of the child they expected to have (as many parents with special needs kids go through). They still believe that there might be a chance he will “outgrow” it. We give them support and time to get through this process. We have them join support groups online, if they have internet access.
For parents of older boys, we mainly listen. These parents often feel left out as their son hasn’t belonged to any group before (i.e. autism community, cerebral palsy community, etc.). They have the need to tell their story and to be heard. These parents are often facing the “should’ve, could’ve and would’ve” of life. They feel guilty about the past and need to know that this isn’t their fault. It is never a parent’s fault.
Q: How is XXYY related to Turner's syndrome?
Turner Syndrome occurs only in girls. Girls typically have 2 X chromosomes. Girls with Turner Syndrome have only 1 X. Boys typically have one X and one Y chromosome. Boys with XXYY have an extra one of each. While there are a few similarities in Turner Syndrome and XXYY, there are also unique characteristics of each.
Q: Are there certain myths about XXYY?
The most difficult myths we deal with in XXYY are:
1. That these boys and men are violent. There were prison studies conducted long ago that have since been disproven, that seem to relate having an extra Y chromosome to criminality. This is false. Boys and men with XXYY Syndrome have a developmental disability with a range similar to the autism spectrum. While they may have frustration-based outbursts and impulse control problems, they are not inherently criminals.
2. That boys and men with XXYY Syndrome are not male. This is also untrue. They are born physically male.
3. That boys and men with XXYY Syndrome are noncompliant, lazy, etc. There are behaviors associated with the syndrome that make people believe these things because the boys look "normal". People think they can control their behaviors more than they really can. They have differences in their brains that cause them to have problems with organization, attention, etc. Many have ADHD. XXYY is also considered a neurodevelopmental disorder in the same way as autism.
Q: Where can parents find help locally?
Because XXYY is so rare, there are no local groups like you would find with Autism and Down Syndrome. The XXYY Project is an International organization. The "local" support is through our Internet Support group. We also help families to find local resources. Our clinic in Denver is designed so that families can come from anywhere and receive a treatment plan they can implement at home with their physicians and schools. The XXYY Project provides assistance to families to visit the clinic. Families also come from all over the world to our annual symposium.
Doctors sometimes suspect a boy has Fragile X Syndrome, Tourrette’s Syndrome, Prader-Willi Syndrome or other conditions before they think of testing for a sex chromosome variation like XXYY.
Oftentimes, these boys are first diagnosed with other conditions that are actually all common under the umbrella of XXYY such as:
• Autism Spectrum Disorders: Autism, Asperger Syndrome, Pervasive Developmental Disorder (PDD/NOS)
• ADD/ADHD
• Sensory Integration Dysfunction
• Sensory Processing Disorder
• Hypotonia
• Developmental Disability & Delay
• Epilepsy
• Speech Delays, Apraxia
• Intention tremors
• Gynecomastia
• Testosterone deficiency
While these conditions can explain some of the boys’ issues, they are pieces of the XXYY puzzle. Boys with these combinations of indicators should have genetic testing.
Other resources recommended by XXYY Project:
Please refer to these websites and organizations for more information about other X & Y Variations and related research:
• KS&A
• American Association for Klinefelter Syndrome Information & Support (AAKSIS)
• Klinefelter Syndrome Information
• eXtraodinarY Kids Clinic at the Denver Children's Hospital
Comments
What an excellent article! This is so great. Thank you very much Heather.
From: a parent of an XXYY young man.
Maureen-
Thank you for reading and commenting! I appreciate the kind words. I know that parents of boys with XXYY often feel invisible and I just wanted to do my part to show that someone does hear them!
Great article! Will be posting on my FB page. Get the word out!!!!
Great article will be printing it off for doctor hear ect :) thank you and xxyy family are fab ,
from a parent of an XXYY 1yr uk
Mandy and Kelly,
Thank you both for reading, commenting and sharing! With this, we can spread awareness :)
Thank you for all this information, I am lucky to be near the childrens hospital in Denver Colorado. Parent of a 3yr old with xxyy diagnosed when only 1 year.
My son will be 8 in January 2011 and has been diagnosed with xxyy syndrome, sensory processing disorder, and high functioning autism. He is a beautiful and sweet little boy and we struggle every day with the challenges that this presents, ie.. knowing where to draw the line between normal 8 yr old boy stuff and uncontrollable behavior, the "unfairness" between what's expected from him and what's expected from his younger brother, etc. My question is this.... Can any useful research be done with his stem cells? We saved his and his brothers' cord blood at birth and pay every year to keep it cryogenically frozen. Is anyone needing stem cells from an xxyy boy to do research to help our future boys?
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