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Q&A: XXYY Syndrome - featured April 30, 2010

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Q&A: XXYY Syndrome

By: Renée Beauregard
Founder, XXYY Project

What is XXYY Syndrome?
XXYY syndrome is a rare genetic disorder affecting 1:18,000-40,000 males who are born. Boys and men with XXYY Syndrome have one extra X and one extra Y chromosome. XXYY Syndrome causes developmental delay and neurodevelopmental problems. While XXYY Syndrome is similar to other conditions such as Klinefelter Syndrome (boys with an extra X chromosome) and XYY Syndrome, boys and men with XXYY Syndrome are more significantly impacted in their development, behavior and medical issues.

What are the characteristics of XXYY Syndrome?
There are many characteristic features associated with XXYY Syndrome that would be evident to a therapist. While not all males with the syndrome would have all of these features, many do. They include:
  • Tall stature
  • Developmental delays
  • Clinodactyly of the pinky finger
  • Intention tremors which increase with age
  • Speech delay
  • Delay of sexual development
  • Intellectual disability
  • Gynecomastia
  • Pes planus
  • Epicanthal folds
  • Hypotonia
  • Radioulnar synostosis and/or congenital elbow dislocation by radiograph
  • Club foot
  • Sensory integration dysfunction
  • Learning disability
  • Fine and gross motor skill problems

Additionally, males with XXYY are often also diagnosed with ADHD, Autism Spectrum Disorders, and many other medical conditions including low testosterone, heart problems and other issues.

How do the unique characteristics of boys with XXYY Syndrome impact their daily lives?
Boys with XXYY Syndrome frequently have difficulty in school with learning, complying, attention span, social skills and some physical activities. Their behaviors are often misunderstood by teachers and others working with them. They may seem to be intentionally non-compliant and sometimes have difficulty with making eye contact. They can have frustration-based outburst that are disruptive and taxing in a classroom or group. Many boys also have chewing issues that cause problems such as biting nails, pens and pencils and virtually any object. Some boys have serious digestive problems, causing them to spend long periods of time in the lavatory. Some boys abscond often.

What types of therapies do boys and men with XXYY Syndrome need?
Therapists are extremely important to the success of boys and men with XXYY Syndrome.

Speech-language therapy – Virtually all boys with XXYY Syndrome need as much speech therapy as can be made available to them. Speech issues for these boys range from mild to severe and impact them through adulthood. Frequently speech therapy stops when the speech has improved significantly. However, language development continues to be an issue and the boys may also have significant problems with word retrieval as they become older. The word retrieval issue causes other problems for them, as people are generally very impatient with them as they try to find their words, which causes the boys more frustration. The longer a speech therapist can be involved with the boy and provide insight to schools and parents, the better.

Occupational therapy – A sensory diet is a major key to success for a boy with XXYY Syndrome. When the occupational therapist works closely with the school to develop a individualized plan and teaches parents and teachers methods to calm the boy, it can have a profound impact on his learning. Methods used to treat any other condition which has sensory problems associated with it would apply to boys with XXYY Syndrome. Most importantly, the occupational therapist can help significantly in helping others to understand how sensory issues impact behavior.

Physical therapy – Boys with XXYY Syndrome have low muscle tone, which impacts their ability to talk, walk, run, climb stairs, stand for long periods of time, and manage physical education in school. Some boys require adaptive physical education in school and it helps parents if the physical therapist helps to develop a plan so that a school will allow it. Boys with XXYY Syndrome tire extremely easily and will even take naps at school long into their teens. A physical therapist can help develop strength in the boy which will enable him to be more resilient.

In addition to the above therapies, many boys benefit greatly from being involved in social skills development groups in and out of school.

What types of assistive technology do boys with XXYY Syndrome benefit from using?
Because of tremors, low muscle-tone and other neurodevelopmental issues, boys with XXYY have a very difficult time with writing. Oftentimes, teachers believe the boy is non-compliant when in fact he is unable to take notes in class, take tests at the same speed as others, etc. Therefore, teaching the boy to use a computer at an early age and recommending that computers and other writing tools be used to replace handwriting is extremely beneficial. When speech problems are severe, they may need to learn sign language or use electronic speaking devices until they are able to speak coherently.

What else is important to know about XXYY Syndrome?
The diagnosis rate for XXYY Syndrome is extremely low. Clinicians often see these boys before they ever have a full, proper diagnosis through genetic testing. It is very important for clinicians to understand this and to help make sure a boy with the features of XXYY Syndrome obtains genetic testing. Without the diagnosis, the parents will not know that the boy may need hormone replacement therapy by a certain age, which will impact his physical development.

A team approach to therapy, treatment and schooling is recommended for all boys with XXYY Syndrome. The XXYY Project, in partnership with The Children’s Hospital of Denver, provides a clinic where a family can visit to receive an in-depth evaluation and recommendations for speech, occupational and physical therapy. The XXYY Project assists families in need with grants to attend the clinic. Families return home with a treatment plan that can be followed by their team of doctors and other clinicians.

For more information about XXYY:
“A New Look at XXYY Syndrome: Medical and Psychological Features,” N. Tartaglia et al, American Journal of Medical Genetics Part A 146A:1509–1522 (2008)

This Month's Featured Author and Organization: Renée Beauregard and the XXYY Project

Renée Beauregard is the founder of the XXYY Project, which is the only international organization serving families of boys and men with XXYY Syndrome exclusively. Renée is a volunteer for the organization and is also a nonprofit consultant specializing in marketing and communications. Renée is the parent of an adult with XXYY Syndrome and has helped to develop the clinic that serves boys and men with XXYY and has been involved in research projects related to the syndrome.

Please support our contributing authors and organizations and visit XXYY Project

Tags: Q&A XXYY Syndrome Article SLP OT PT School Based Psychology 30 April 2010 Newsletter