Study Finds People With Fragile X, Carriers Likely To Have Additional Conditions
Main Category: ADHDAlso Included In: Anxiety / Stress; Genetics
Article Date: 25 Sep 2008 - 9:00 PDT
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People with fragile X syndrome, as well as those who carry the gene, are likely to have additional conditions that include attention problems and anxiety, according to a study by researchers at RTI International.
The study, published in the Aug. 15 issue of American Journal of Medical Genetics, surveyed more than 1,000 parents of children who either had fragile X syndrome, the most common inherited cause of intellectual disability, or were a carrier of the disease.
In this first large-scale assessment of conditions associated with fragile X syndrome, researchers found that most boys and many girls with the syndrome experience attention problems, anxiety and hyperactivity, in addition to developmental delay, 85 percent of males and 44 percent of females experienced two or more additional conditions.
Additionally, the study showed that carriers, those who have the altered gene but generally do not show signs of the disease, also had an increased prevalence of co-occurring conditions. Boys who carried the gene were more likely than typical children to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety.
Girls who carried the gene were more likely than typical children to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay.
"This study provides new insights into what it means to be a carrier of fragile X syndrome," said Don Bailey, Ph.D., a Distinguished Fellow at RTI and director of the project that produced this research. "Obviously carriers who are parents experience many challenges in raising a child with fragile X. This study suggests the possibility that carriers of fragile X may also have a higher biological susceptibility to things like anxiety or attention problems."
The number of co-occurring conditions children experienced was strongly associated with parent reports of the child's ability to learn, adaptability and quality of life. The findings suggest that clinicians should be sure to assess both carriers and individuals affected by fragile X to determine whether they have any of these co-occurring conditions so that they can be treated.
Fragile X syndrome is caused by the disruption of a single gene that leads to a protein needed for normal brain development. Changes in the gene are passed down from one generation to the next, usually silently in individuals who are not aware that they carry the disrupted gene. In each generation, the risk for having an affected child increases.
The study was funded by a grant from the Centers for Disease Control & Prevention.
About RTI International
RTI International is one of the world's leading research institutes, dedicated to improving the human condition by turning knowledge into practice. Our more than 3,800 professionals provide research and technical services to governments and businesses in more than 40 countries in the areas of health and pharmaceuticals, education and training, surveys and statistics, advanced technology, international development, economic and social policy, energy, and the environment. For more information, visit http://www.rti.org.
American Journal of Medical Genetics
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Visitor Opinions In Chronological Order (3)
Interesting
posted by Traci Kime on 5 Aug 2011 at 7:46 amI have a daughter with Fragile X syndrome. She's a twin. Her brother does not carry the gene. I found out she had Fragile X in 1992 when I was 7 months pregnant with another daughter. The younger daughter does not carry the gene either.
It was interesting to read about Fragile X carriers because I suffer from a lot of the things it listed like depression, anxiety, grasping the concept at times of what things mean or if someone's trying to explain something to me. Sometimes it takes me a little longer and people tend to get frustrated with me but I don't want to come out and say oh that's because I'm a Fragile X carrier. It's very interesting because it's rampid through my family. My mom, aunt, myself, and my cousin are all carriers and we all have a child with Fragile X except for my mom. I'm not sure why it was passed to me if my mom is a carrier but I guess it slipped a generation.
FXS gene not received
posted by Robyn on 25 Dec 2011 at 9:48 amTraci - I read your comment and found it interesting that you did not receive the FXS gene... Are you a carrier? How did you pass it to your daughter?
I am a carrier of FXS and it is thick in my family as well... My grandmother was a carrier and passed it to almost all of her children. One son had the full mutation of FXS, two sons are carriers and one daughter is a carrier. The daughter has a son with the full mutation. My father is one of the sons who is a carrier and he has two daughter (myself and my sister) who are carriers. My sister has two daughter who have the full mutation and a son who is a mosaic. I have one daughter who has the full mutation, one daughter who does not show FXS in the DNA tests but has all the symptoms and even the appearance of FXS, and my son is negative also, but has ADHD that he is treated for. My father being a carrier has been diagnosed with FXTAS (the tremor ataxia syndrome) and has had Guillam Barrett for over 20 years. I went through POS (premature ovarian failure) and have been in menopause since I was 27. Shortly after my youngest daughter was born. Now at the age of 39 I have been diagnosed with a pretty significant level of osteoporosis and I have recently found out I may be developing MS... Seems this FXS stuff can set us up for many other diagnoses that we would otherwise not be affected by. I find it frightening at times knowing so many things are happening because of the FXS. If I had known about it before I had my children I would probably have chosen to never have children and never pass along this genetic disease. I wish you and your family all the best and hope that your journey through FXS is much easier than ours has been.
Good luck in your journey....
Carrier no symptoms
posted by A M on 23 Jan 2012 at 11:56 amHi. I'm a fragile X carrier with 70 repeats. There's never been a case of full mutation in my family (that I know of) and I was diagnosed as a carrier when I was routinely tested for genetic disorders in pregnancy. I don't suffer any of the symptoms typical for the carriers. My daughter was born completely healthy and from the start displayed great motor and fine motor skills (at 2 she's at a 3 year-old level with fine motor etc.) It's possible to have healthy children when you're a carrier but it's a genetic lottery. You never know what's in your egg each month... I was lucky.
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