Fragile X is a rare genetic disease. Only 1.4 in 10,000 males in the world has it, while .9 in 10,000 females has it in the world. For this reason, the availability of treatment for this condition is very scanty.
Being so rare means that the market for drugs is slim. Thus, having something for Fragile X does not do much for the bottom line. Unfortunately, with little medication to resolve this condition patients are restricted from living their lives fully. These patients still deserve attention despite being a small ‘insignificant’ group.
Fragile X is condition caused by mutation of the FMR1 gene. It is genetic and, as stated above more prevalent in males than females. Males suffer more severe symptoms. In fact, some females are only diagnosed once a member of the family has been diagnosed. It’s not life threatening and patients are encouraged to attend therapy as much as possible.
The core symptom is an intellectual deficit, some patients also exhibit some behavioral and learning disabilities. The mutation of this gene limits the synaptic activity in the brain making communication a little hard. Fragile X patients may be misdiagnosed with ADD, autism spectrum disorder or just a mere social anxiety. The patient may also have these but FXS is entirely capable of standing on its own.
FXS or ASD?
The most common misdiagnosis is ASD or Autism Spectrum Disorder. The symptoms are very similar but the two are still quite different. FXS is probably the only known cause of ASD actually, while ASD is a cluster of conditions.
FXS on the other hand is a specific condition and the cause is well known. Physicians should understand the differences between the two. This will ensure misdiagnosis does not lead to insufficient and tragic treatment. On the other hand, the similarities should be appreciated. They should be harnessed so that a proper full dimensional treatment is administered.
The core deficit of ASD is social interaction. Autistic people do not actually realize the role of social interactions in their lives. They do not recognize or even have a need to be socially conscious and sound.
The core deficit of FXS is intellectual function. People with FXS still experience social anxiety. However, their case is quite different from those with ASD. They recognize the need for social interactions. However, they cannot quite execute social interaction effectively and will therefore develop anxiety due to their need but inability to be social.
Early Detection and Intervention
Early detection is quite helpful with FXS because this means that treatment can start from an early age. This increases the chances of a more normal adulthood in the future. Early detection is done by methylation of the Fragile X mental retardation 1 gene.
Through this process, a prediction of severity can be derived. A further streamline of this process would come in handy in fashioning proper treatments to manage deficits. It could possibly prevent the development of ASD and other consequential conditions. The child if exposed to treatment at infancy would have a better chance of a normal better quality childhood, a more wholesome childhood experience.
Scientific Support
A study was conducted by Dr Daniele Piomelli and a few of her colleagues. The study involved laboratory mice that had been compromised with a mutated FMR1 gene. They were made to exhibit Fragile X symptoms. After that, they were tested to establish a baseline. Then they were treated with a compound that improved 2-AG protein signaling.
A test after the administration revealed less anxiety to the maze test and more acceptance of the open space. It was concluded that stimulation of the endocannabinoid system could improve the outcome of people with Fragile X. The 2-AG protein is a potential therapeutic pathway for broken brain function.
Why Synthetic CBD is Successful
A biopharmaceutical recognized the potential of CBD to treat Fragile X. Zynerba developed a formulation with synthetic CBD. This is because the real CBD is not allowable by federal law. Results released in 2017 of clinical trial performed on infant and adolescent Fragile X patients showed a 46% improvement in anxiety, depression, and moods.
An improvement in intellectual markers was also noted. The trial was in phase 2. An official in the Psychiatry and Behavior Sciences faction of the Keck School of Medicine of USC expressed confidence in the drug the company was producing.
The drug was clearly ready for the next phase of development. If a synthetic CBD drug can have such profound effects, imagine the real organic CBD?
Symptoms of Aggression
Aggression is a major symptom of FXS and ASD. It is brought on by a few factors. The first being anger rumination. This is a situation whereby the person dwells on many angry thoughts for a while that they finally boil over and explode. This dwelling causes an increase in the hippocampus, insula and cingulate cortex. Like a volcano, the process of eruption takes time. The lava boils and boils until finally the mountain cannot contain anymore so it erupts. These angry thoughts are the lava and aggression is the subsequent eruption.
CBD can effectively mediate activity in the insula and cingulate cortex. At the same time, it can reduce over activity in the hippocampus. These two mechanisms help manage and perhaps prevent aggression. By having this intervention, the person is able to communicate better and therefore prevent rumination.
Another cause aggression could be social anxiety. As mentioned before FXS patients realize the need for social interactions. They just have a hard time expressing themselves and having proper social behaviors. This becomes frustrating and the result is nervousness every time they are in social situations.
There are also some physical traits like big ears common with Fragile X patients. These physical traits can cause some discomfort in social situations. CBD can mediate neurological functions by elevating anandamide. Anandemide will effectively lower the anxiety. It will also help loosen the patient up. They are able to communicate better therefore having more acceptable social behaviors. All these lead to a less disruptive disposition.
CBD is Worth Pursuing
The research into this area is very scanty. Mostly for the profitability reasons mentioned earlier. However, when you look at the individual symptoms of Fragile X you will realize that CBD is actually a viable treatment. It can better help manage the symptoms. It is available, it is organic and it is effective.
