Fragile X syndrome Chat with Dr. Cathy Nenov

The opinions and statements made in this chat session belong to the individuals posting them and appear in unedited form to promote the free exchange of information. However, they may not represent the views and/or policies of the Georgia Center for Resources and Support.

Shannon H: I guess the first question on everyone's min?d is: what is Fragile X Syndrome exactly?

Cathy Nenov: A syndrome is simpley a grouping of unusual physical, behavioral and or intellectual features which occur together in a single person...

Cathy Nenov: n the case of Fragile X syndrome, it is the most commonly inherited form of mental impairment whose characteristics can range from mild learning disabilities to severe autism.

Shannon H: What are the initially characteristics of it? The ones that might alert a physician of its existence, I mean.

Cathy Nenov: There may be some physical features associated with the disorder such as large ears, a long narrow face, prominent forehead and seizures...

Cathy Nenov: e may be no outward signs. But usually ADHD and behavior problems exist...

Cathy Nenov: There may be hand biting, arm flapping, talkativeness, rapid repetitive speech and mental health issues.

Cathy Nenov: It affects males more prominently than females. Most of the males are operating in the moderate range of intellectual ability...

chatadmin: Is Emory/Egleston still the best place in the Metro Atlanta area for a child to be tested for Fragile X syndrome? Are there other places in GA. that can provide genetic testing for families that might suspect Fragile X?

Cathy Nenov: Most of the females only experience mild learning disablities. This is because the female had two X chromosomes while the male only has one.

Cathy Nenov: The Fragile X Gene was discovered in 1991 at Emory so yes, this is still the best place in the area to get an accurate diagnosis...

Cathy Nenov: The National Fragile X Foundation is also an excellent resource for information. Their web address is NATLFX@FragileX.org.

Shannon H: At what age are most of the characteristics most likely to be recognized?

Cathy Nenov: Depending on the severity of the disorder, usually you will notice a significant developmental delay by age 2 to age three....

chatadmin: Hello Dr. Nenov. Can you share with us what your role is with pt.s who have Fragile X or their families? Are you involved as a Medical Dr. or PhD.?

Cathy Nenov: Early infancy difficulties to be alerted to might include difficulties feeding etc

Cathy Nenov: My involvement includes psychological testing. It is not medical in nature.

Shannon H: Do you assess their developmental skills as part of the determination, or do you work with other specialists?

Cathy Nenov: The determination of Fragile X is purely and most importantly detected by a blood test. Any physician can order the test, but they must alert the laboratory first.

Cathy Nenov: Onec the diagnosis is made, the disorder is fairly well known and a profile of strengths and weaknesses is quickly ascertained through developmental testing.

chatadmin: I know that Emory was conducting some testing via the Atlanta metro schools a/b 10 or so years ago to determine (I think) the # of children that might be possibly enrolled in schools w/Fragile X. Do you happen to know about how many children in the population are born w/Fragile X syndrome?

Cathy Nenov: For example, hyperactivity is common. It is also probable that medication will be utilized to help control the significant symptoms.

Cathy Nenov: Approximately 1 in 1000 children are affected with the disorder. Eight of 10 of these will be male.

Shannon H: How many children do you think might be affected by this, and are misdiagnosed? Do you know of other syndromes that present themselves in ways similar to Fragile X?

Cathy Nenov: My guess is that Fragile X is significantly underdiagnosed. In many instances Fragile X looks like autism or mental retardation as well as a learning disability.

chatadmin: Dr. Nenov, to complete my question, to pass on to the offspring?

Cathy Nenov: The Fragile X gene may be carried by the mother of father and passed to the child unknowingly from generation to generation.

Cathy Nenov: As the generations pass it along, it becomes more unstable and may express itself suddenly without known cause.

Cathy Nenov: In my case. I am a premutation carrier. My father passed it to me and it expressed itself in my son.

Shannon H: Should your son have children, what is the likelihood of his passing it on?

Cathy Nenov: My son is a full mutaion carrier. Thus, he has Fragile X Syndrome.

Cathy Nenov: Ifmy son has a daughter, the girl will have 100% chance of getting it...

Cathy Nenov: If my son has a male, he will not pass along the defective X chromosome he cariies.

Cathy Nenov: I have a 50% chance of having a non-affected child, since only one of my X chromosomes is affected.

Cathy Nenov: No, I don't. But I had another preganancy which I miscarried early on...

Cathy Nenov: The Fragile X test can only be given in-utero at 16 weeks gestation with any accuracy.

Shannon H: I know you work with schools often. Are you finding them to be well informed on this syndrome, or is it still in the beginning stages of being understood.

chatadmin: As a parent and Psychologist what advice would you give to parents who have children with Fragile X in the school system? What kinds of support can parents expect from the school system?

Cathy Nenov: I can say with certainty that the other Psychologists I work with are well informed. I imagine that the metro Atlanta area is probably one of the most knowledgeable areas since the gene was discovered here.

Cathy Nenov: Joining a parent support group is one of the most helpful things a parent can do for themselves...

Shannon H: Clearly, there are many families affected by this condition. What support groups do you know of that focus primarily on Fragile X?

Cathy Nenov: There is one here locally called Coweta Supporters directed by Linda Wilson. You can reach her at 770-463-1658...

Cathy Nenov: There is a support group in Atlanta run by Gail Heyman that you can reach at the previous National Fragile X website that I mentioned.

Shannon H: I am aware of ASPIRES, as listed on our resource list in Region 4 in Central Georgia. Are there other chapters around the state?

Cathy Nenov: From the school system to answer an earlier question, you should expect the child to receive the full range of services to include special education, occupational therepy, physical therapy and speech therapy.

Cathy Nenov: There are many support groups around the state. ASPIRES is in the process of becoming active again. Another helpful orginization is Parent to Parent of Georgia. I can provide their number at a later date.

Shannon H: Is the immune system affected in any way? I have heard various opinions on this.

chatadmin: Dr. Nenov, we also have Parent to Parent listed amongst our Resources and refer families to them often.

Cathy Nenov: The Fragile X child is thought to be extraordinarily healthy by expert accounts...

Cathy Nenov: However there may be co-existing problems that may be affecting the immune system.

chatadmin: Dr. Nenov, we provide articles on various topics to Parents via our Lending Library. Would you happen to have a current article that you feel would be good to give to parents who receive a dx of Fragile X for their child? If so, I would like for you to share it with us.

Shannon H: What is the first step for a parent who feels their child may have been misdiagnosed and really has Fragile X as opposed to other conditions?

chatadmin: Thank you. You can send it to the Center, Attention: Laveda Doxey.

Cathy Nenov: Laveda Doxey was one of the first people to assess my son'e difficulties. After that we were sent to a nuerologist at Emory, Dr. Blackstone who immediately recognized my son'e symptomas and ordered the Fragile X test...

Cathy Nenov: Its important to get a correct diagnosis, absolutely. But if a parent notices delays in their child, they should not hesitate to enroll them in early intervention services. This is critical to developmental improvements.

Shannon H: Babies Can't Wait is an excellent resource for early intervention.

Cathy Nenov: Yes, its often the first experience the family will have in rehabilitation.

Cathy Nenov: Often, the family is unaware of the range of services Babies Can't Wait can provide. That's why speaking to other affected families is so critical.

Cathy Nenov: There is a special form of medicaid that is available to affected famillies called the Katie Beckett Deeming Waiver which is useful after Babies Can't Wait is discontinued at age three...

Cathy Nenov: Unfortunately, they are seriously cutting back on these services. However, the diagnosis of Fragile X syndrome is significant enough to warrant aproval of the Deeming Waiver...

Cathy Nenov: The Babies Can't Wait Service Coordinator can help families apply for this Waiver.

Shannon H: We might want to mention that once you submit your article to the Center, it can be offered to families free of charge, like all of our resource materials. Are there any books you recommend that we can offer on loan to families from our library?

Cathy Nenov: There are several I can recommend. "Fragile X , Handle with Care" by Dr. Marcia Braden is an excellent first introduction...

Cathy Nenov: This publication also shows pictures of many affected children so you may see the Fragile X "look".

Cathy Nenov: A more academic text entitiled Fragile X syndrom, Diagnosis Treatment and Research by Drs. Randi and Paul Hagerman is also excellent.

Shannon H: These sound like excellent resources! Thank you! Can you think of any final words you'd like to impart as we wrap up our hour? This has been a really intriguing hour. I am so glad you joined us, Dr. Nenov!

Cathy Nenov: The most important last thing I can think to say to families with these children is not to lose hope. These are some of the content and happiest children I have known. They bring so much joy to others. I am truly blessed to have been chosen to raise my son. He teaches me everyday

chatadmin: Dr. Nenov, your information and suggestions for parents have been great. Thank you for sharing your time with all of us this evening and the numerous parents who will read this later in our archived chats.

Cathy Nenov: Gently guide these parents to the Emory clinic. When you can correctly identify the order, than the treatment is also going to be most useful. Thank you all for having me and I wish you a good evening.

Kim: Dr. Nenov I recently had my son tested for fragile x , all of the test came back negative. Can psychological problems mimic this disorder?

Cathy Nenov: Finding the right words can be difficult at times. But there are known strategies that are effective with Fragile X children. Getting the correct diagnosis is central to this.

Cathy Nenov: Yes, many Fragile X children have emotional disorders especially anxiety and depression as well as sensory integration dsyfunction

Cathy Nenov: Kim, if you would like more detailed information, I would be happy to speak with you further.

chatadmin: Thank you Dr. Nenov for your time this evening. We will refer parents to the Emory clinic. Thank you for being with us tonite.

Shannon H: I can share that with you, Kim, if you want to call me in a few. Thank you Dr. Nenov. Have a good night!

Fragile X syndrome Chat with Dr. Cathy Nenov

Monday, the 19th of September 2005