Autism Therapy: Fragile X Syndrome (FXS)

definition of Family of genetic disorders defined by gene changes in the FMR1 gene on the X chromosome. FXS is the most common inherited form of mental retardation, and approximately 25% of children with FXS have autism. About 2.5-6% of children with autism have FXS.

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Systematic Review of Pharmacological Treatments in Fragile X Syndrome
BMC Neurology, by Rueda, J. - R., Ballesteros J., and Tejada M. - I., published in 2009, summarized Apr 29, 2010

There is no good evidence to support the use of pharmacological treatments or supplements in people with Fragile X Syndrome in general or those with a diagnosis of Fragile X Syndrome and autism.

This article reviews the research on drug therapy for the treatment of symptoms of Fragile X Syndrome. Most of the studies that they reviewed were very small and therefore it was hard for the studies to see an effect from the drug if such an effect did exist. Most of the studies were also poorly designed. The authors noted that a poorly designed folic acid study showed promise that folic acid supplements (10 mg/day) may raise the IQ of young children with Fragile X syndrome. One small study showed found methylphenidate to be helpful for children with Fragile X syndrome, but the study was short and poorly designed.


Rare Diseases Offer Insights into Autism Spectrum Disorders
Harvard Mental Health Letter, by Letter, published in 2009, summarized Sep 22, 2009

Research on known genetic brain disorders may lead to better autism therapies in the future.

Researchers continue to learn about how to treat genetic brain disorders. Rett syndrome, tuberous sclerosis complex, and Fragile X syndrome are examples of genetic brain disorders. For these disorders, there is a gene in the DNA that researchers know is related to some brain problems. Scientists have been able to treat these disorders in animal studies. They have used gene therapy and drug therapy to correct problems of defective genes. They hope that some day the information might be helpful for treating many brain disorders including autism.


Effect of Choice of Task Sequence on Responding
Research in Autism Spectrum Disorders, by Stayer-Smeltzer, S., Graff RB, Ahearn WH, and Libby ME, published in 2009, summarized Sep 1, 2009

Giving children with autism choices, during behavioral therapy, helps them pay attention and participate better in therapy.

Three children (6-8 years old) were studied during 32 therapy sessions. One child had autism, one had pervasive developmental disorder-not otherwise specified (PDD-NOS), and one had fragile X syndrome. Each child got the option to choose the order of activities during behavioral therapy sessions. The authors measured the time the children spent on activities, any problem behaviors, and how long it took to finish the activity. They compared therapy participation when the child made choices to participation when the therapist made choices. The children liked to choose the order of the tasks. The children stayed on task better, and finished the task in a shorter length of time. They also had few or no problem behaviors.


The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders
Pediatric Research, by Spence, SJ, and Schneider MT, published in 2009, summarized Aug 27, 2009

Some people with autism may also have epilepsy (seizures), and anti-epilepsy therapy treatments may be helpful.

People with autism may be more likely to have epilepsy than people who do not have autism. Epilepsy may be more common in people with autism who also have low I.Q., fragile X syndrome, or 15q duplication syndrome. The first seizures often occur either between 18-24 months of age, or during adolescence. People with autism may also be more likely to have abnormal EEG patterns called epileptiform EEGs. Brain researchers think that these abnormal patterns are a symptom of brain function problems. But these people do not have seizures or epilepsy. People with epilepsy often use drug therapy to control their seizures. Some children may show improvements in communication or behavior with drug therapy, but treatment usually does not change the autism symptoms very much. Treating people who have epileptiform EEGs is still controversial because there is little evidence that such treatments improve symptoms of autism.


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Denial?

Oct 25, 2006 by Anonymous

I wondered how I could miss the signs?  I had two boys and they were all close in age. My oldest was three when Katie was born. Was I too busy to notice....maybe.

 

I don't remember talking to her much as a baby, she was just in tow while I cared for the others....maybe I didn't play enough games with her.....I quickly looked at past albums and some videos. She smiled and made eye contact....oh, there we were are all giggling together on the floor. There she is in her footsie pajamas at the gate watching me in the kitchen....

 

No, she wasn't ignored, as a matter of fact she was mommy's girl. She was such a good baby, would watch TV quietly or play with a set of crayons while I cleaned the house. She carried a blanket around and did this funny thing, she'd run it through her fingers and sometimes her toes. She's line up her crayons but would not color with them. She loved the teletubby figurines, but really just lined them up as well. And she loved to sit in boxes. Oh yea, and when we were outside, she'd lay on the ground and look up, I figured she was just taking it all in.

 

I can't even bear to ask friends if they ever noticed or had concerns. What could they have said...she was still a toddler.

 

OH, and the pediatrician. Wonderful man, but I hear this happens often..... I mention she's not talking or waving hi...he suggests to just give it time. Was he right? Sure he could have been, how many kids have burst of development making up for delays....lots....but a few more questions during our visit and he would have seen she may have had traits that might have suggested autism.  Autism just began exploding up here at the time, I know it wasn't on his radar.

 

I had no time to beat myself up trying to figure out the why's. Truth is, we diagnosed her early enough. Was it shots, was it diet or genetics...who cares, just gotta fix it. Now, as a precaution,  I don't get her combined MMR vaccines, we will do it separately. And flu shot...they have mercury free now....but you have to ask. Is it the Mercury, don't know, but know Mercury isn't good for you and I don't want to risk it.

 

Until Katie was nearly 3 she woke up nightly because of gas. During the same time we found out about the autism we did a lower GI, perhaps that would be it, and then we could fix it. The scope was clean, her intestines a beautiful and perfect pink (I couldn't believe he showed me the pictures). But, even still, we tried the Gluten-Casein free diet...which is very hard, but to no avail. She just grew out of it. But I know many kids that have similar issues and respond to the diet....I feel it's better to explore all options, just in case you hit the nail on the head!

 

It wasn't about chasing causes, but really trying to eliminate them. The only thing I didn't do was test for fragile X or do an MRI. She really didn't show anything that suggested either was appropriate. When I asked the doctor what we might do differently if she had fragile X, she said nothing. I knew a mother of children with fragile X....Autism was fine for me right now.


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    • Synonyms for Fragile X Syndrome (FXS) include: fragile x, fragile x syndrome, FXS
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