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Hi, my name is Sarah Benson and today I'm gonna be talking about fragile X syndrome.

So,

fragile X syndrome is a developmental disorder caused by a mutation

in the FMR one gene which is located on a chromosome.

So when the mutation is looked at through a microscope it appears fragile or broken,

which is how the disorder got its name.

So,

fragile X syndrome is more commonly found in men affecting everyone in 2500 to 5000.

Um when women are also affected,

but only everyone in 4000 to 6000 have fragile X syndrome.

Um but they do often experience milder symptoms.

It can be present in a range of different severity

levels depending on how much um the gene was altered.

It's also currently one of the

leading causes of inherited intellectual disability.

So fragile X syndrome is part of a family of other syndromes,

including fragile X associated tremor and ataxia syndrome and fragile X.

Associated primary ovarian insufficiency.

And today I'm only going to be talking about just fragile X syndrome.

So the causes of

fragile X syndrome,

um they occur due to uncontrolled mutation in the FMR

one gene which is located on the X chromosome.

So the C. G. G sequence on the chromosome normally repeats from 5 to 40 times.

However, in people with the F. X. S. Gene, the sequence can repeat up to 200 times.

So this categorizes FX S as a triple expansion disorder.

So these uncontrolled mutations turned gene expression off.

So the FMR one gene that creates protein needed

for brain development is often what is negatively impacted.

So some individuals who have changes in their FMR one gene

are still able to make the protein which explains why F.

X. S. Can be present in a spectrum of severity levels.

Yeah

so risk factors um F. X. S.

Is an inherited disorder which means that if someone in the family has it

then other family members could also be at risk for developing it as well.

So a family history of autism spectrum disorder, um intellectual disability,

early menopause or neurological problems.

I will result in a clinical diagnosis of F. X. S. In the family.

Um With this in mind there are different types of mutations that cause FX. S.

So the severity of the sequence will determine that the

likelihood that somebody will pass it on to a child.

So um types of mutations range from normal, which is anywhere from 5 to 44 mutations

Intermediate, which is 45 - 54 mutations.

Permutation,

which is 55-200 mutations and full mutation which is greater than 200.

So like I said before, the higher the number of mutations,

the more likely someone is to pass on that gene to their offspring

um diagnosis. So F. X. S.

Is diagnosed through tests from tissues like a

blood test or from Abney amniotic fluid.

Um So a molecular diagnosis of FMR one D. N. A.

Can be done using southern uh plot analysis or a PcR test.

Um It is common for a diagnosis to be made in Children

around 2 to 3 years who show delayed or absent speech patterns.

They may also show delayed motor milestones, poor eye contact, irritability,

and Hipaa hipaa Tanya, which can encourage um someone wanting to test to be done

symptoms.

Um So as mentioned before,

the number of mutations present will determine the severity of the disorder.

Um So very few mutations may even result in someone being completely asymptomatic.

So there are a variety of symptoms that may be present in someone um with FX S,

which I will break into the following categories.

So behavior, mental health and physical symptoms.

So behavior includes social withdrawal,

um language deficits, learning difficulties

for eye contact, delayed motor milestones.

Um Poor communication and sensory disorders.

Mental health includes things like depression, anxiety,

obsessive and obsessive compulsive disorder behaviors.

And then physical symptoms include a large forehead, large jaw,

large ears crossed or lazy eyes, flat feet and large testicles.

Um and low muscle tone.

So those with fragile X syndrome are also at high risk for hypothyroidism,

dementia, high blood pressure anxiety, sleep apnea and depression

co morbidity and contraindications.

So fragile X syndrome is closely related to autism spectrum disorder,

which is abbreviated asd.

This is because the fragile X mutation is actually

the single most common genetic cause of autism.

So those with autism and F. X. S. Are seen to have fewer expressive

language abilities and a lower IQ than those with FX. S alone.

So other secondary disabilities include attention

deficit hyperactivity disorder which is A.

D. H. D. And neuronal spine dysmorphia genesis.

So it is also very common to

have symptoms of impulsive impulsivity and anxiety disorders

um considerations for skill development.

So a few things to keep in mind when

working with someone who experiences fragile X syndrome.

Um So I'm going to talk about some ways that you

can create a supportive environment that will help someone with F.

X. S. Be able to reach their full potential in various situations. So

um first of all in learning, um it helps to use engaging material

um Breaking large loads of work into smaller tasks

using visual aids such as diagrams,

pictures or even like color coding um to enhance their understanding.

The next aspect is environment.

So in order to help them you can avoid large groups of people

minimize using different stimuli at the same time,

keep noise levels low and use natural lighting.

So certain sensory sensations can be an irritant for someone with F. X. S.

And as a result this may cause them to act out or to display behavior problems.

So a few other important considerations are that someone with F. X. S.

May become less intelligent with age and therefore it's important

not to compare their physical age to their developmental age.

Um and remember to scale learning to an appropriate level for

the specific individual and not hold them to a certain standard

um treatment and medications.

So um although there is no cure for fragile X syndrome,

there are medications that may help to ease the symptoms of F.

X. S.

So for example there are various medications for obsessive compulsive disorder,

sleep issues, anxiety and depression,

A. D. H. D. And seizures and mood instability also have medications to help

ate them.

And someone with FX. S.

May also benefit from these medications to improve their quality of life.

So physical activity for someone with fragile

um

X. Syndrome.

So as I mentioned before,

there are some things useful to keep in mind when working with someone who has F.

X. S.

In order to help them be the best version of themselves and succeed in their lives.

It's very important to scale any physiological activity to the individual

specifically and not generalized as each person will have different skills,

abilities and interests.

So as a response to exercise,

our body produces neurotrophic factors such as nerve

growth factors and brain derived neurotrophic factors.

So these factors may cause improved cognitive

function and memory and increased neuronal survival.

So studies show that even mild and

moderate physical activity will increase cerebral vascular

activity which can help with long term survival of neurons in the brain.

So basically participating in regular physical activity can result

in long term improvements um to brain function,

assisting in a better quality of life.

So individuals with F. X. S. And sport.

So I was researching off of the special olympics website and

these are just two stories of individuals with fragile X.

Syndrome who noticed that sport had helped them um improve their quality of life.

So the first individuals named Jonathan,

so he had always been an introverted boy.

He would always stay in his room by himself

and found enjoyment in playing with his toys.

He did not express himself much when he was with his friends or family.

Um His parents got him involved with special olympics in sports such as golf,

swimming and tennis.

He had very supportive coaches and worked in a team environment.

So after um playing sports for a while,

Jonathan's parents noticed um the impact that it had on other aspects of his life.

So he started interacting more with people getting interested in

school and even starting to set goals for himself.

Um None of which he had done prior to um doing any sport.

So he even began an academic career in computer science all

while working a part time job at a grocery store.

So his parents credit the success of his life largely to his involvement in sports.

So I'm going to answer the question how could someone make Jonathan's environment?

Um one suited best for him.

Um So given his his specific circumstance as mentioned before he's

very introverted so he should be put in a situation um

where he feels comfortable um otherwise it may cause him to

feel frustrated or to back away from any sports altogether.

So

um for example, it would be important that when working in a group setting,

Jonathan's coaches were aware that he gets anxious in

large crowds of people um and then maybe in

instruct him in smaller groups or even independently

until he got more confident with the sport,

the next athlete is gen.

Um So she wanted to participate in sports, like she saw those around her doing,

however, she had motor skill issues and experienced slower processing times,

which caused a lot of frustration for her whenever she tried to play a sport.

So eventually her parents got her and her sister who both

had fragile X syndrome um involved in a special olympics program.

So the parents report noticing,

reported noticing increased confidence levels from

both of the girls um In addition

to reduce social anxiety and the overall improvement and quality of life.

Um So how could someone make her environment best suited for her?

So, as mentioned,

gen experienced motor skill issues which caused her to become frustrated easily.

So in this circumstance,

it may be helpful for jen to work with a motor motor program specialist who

would work with her personally by creating a motor program suited best for her.

And because jen had slower processing times,

this may just mean that she takes a little bit longer to learn a skill.

And so by doing that in a private setting would allow her to build

her confidence up until she feels like she can go um comfortably work with

um with her peers in a group setting,

so support for people with fragile X syndrome.

So there are multiple different supports offered for them.

Um but one that stood out to me was the National Fragile X syndrome Foundation.

So they have a website

that basically has different resources um

for people wanting to learn about fragile X syndrome

and they offer different activities and um places to donate and stuff like that.

Um just to kind of put everything all in one

area for someone interested in learning about fragile X syndrome.

So

their mission is to serve the Fragile X community

to live their best lives by providing the knowledge

resources and tools until even after more

effective treatments and a cure are achieved.

So that was taken from their website.

Um They help in the community by offering supports that prioritize advocacy,

education research and treatment.

Um for example,

they advocate for families by offering virtual community social events

a year round legislative advocacy program

and promote an annual awareness month in july.

They offer education by producing webinars,

e books and articles open to the public

and they also help to advance research by facilitating

research activities for family and professionals that um show

how community participation can move them one step further

um

to an eventual cure for fragile X syndrome.

Um So they also have an area on their website for donations, like I mentioned before,

um,

in ways people can join or get involved and

um just connect with the content that they post.

Um, so just another resource for anybody interested,

um and learning more about fragile X syndrome, and that concludes my presentation.

Thank you Phyllis.

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