Xia-Gibbs Zumba Fundraiser
Time & Location
About the Event
$20 CASH at the door!
Basket raffles available!
Light snacks after!
WHAT IS XIA-GIBBS SYNDROME?
Xia-Gibbs Syndrome is a rare genetic disorder in which the AHDC1 gene is altered or mssing. The genetic change which causes the syndrome is 'de novo', which means that it arises spontaneously in the child and is not passed down by either parent.
Xia-Gibbs Syndrome is a neuro-developmental disorder that originates in the brain, causing physical and intellectual disability, and global developmental delays.
Other signs and symptoms of Xia-Gibbs syndrome vary among affected individuals and include Cortical Visual Impairment, weak muscle tone (hypotonia), Expressive language skills (vocabulary and the production of speech) are particularly affected; children with this condition usually do not speak their first word until age two or later, and some never learn to talk at all. Development of motor skills, such as crawling and walking are also delayed. Additional neurological features include poor coordination and balance (ataxia) and seizures. Feeding problems and sleep abnormalities can also occur in people with the condition, and many affected individuals experience obstructive sleep apnea.
In some people with Xia-Gibbs Syndrome, imaging tests of the brain show abnormalities in the brain's structure. Xia-Gibbs Syndrome can also affect physical development. Impaired growth, unusual facial features, and scoliosis are common. Behavior problems can also occur in Xia-Biggs Syndrome. Some affected individuals have features of Austin Spectrum Disorder, or of ADHD. Other problems can include aggression, anxiety, poor impulse control, and self-injury. Most individuals with Xia-Gibbs require significant ongoing care.
The condition was discovered in 2014 and only a small number of people around the world have been diagnosed, most of them children. This means that little is known about the condition and how it might affect people in adulthood. While little is yet known about the condition and only a small number of people have been diagnosed, it is likely that there are many more with the syndrome around the world whose families and doctors are simply unaware of the condition and remain without diagnosis.
The Xia-Gibbs Society aims to support ongoing research initiatives through direct funding, advocacy and through raising awareness about KGS. Scientists and researchers at Baylor College of Medicine in Houston and elsewhere are working on understanding the syndrome and trying to learn more about it. As they continue to conduct their research, we will hopefully be able to have more answers and more targeted therapies for those individuals with the syndrome.