Hi there!  More and more I meet people in my day-to-day interactions that are struggling with children that live with various problems.  I sometimes think that there are just more children affected with severe conditions — while at other times I consider that it might be simply that it is human nature to notice more “Red Hondas” on the road once you buy your first “Red Honda”.

Recently I was out for coffee with a friend and the topic of Fragile X came up and I wondered what that looked like and meant for their families.  As I am very familiar with Autism — having two children on the spectrum myself– I do like to have some basic understanding of what’s out there and its cause.

As usual — you get the fruit of my labour because “I share” as I am truly an educator at heart.  That is why I blog after all.

The cause of Fragile X Syndrome:

Fragile X seems to be mutation of a single X chromosome (FMR1).  It affects more males than females.  Both males and females can be carriers and there is now genetic testing for it.

How many people have been diagnosed with Fragile X?

According to the US National Fragile X Foundation:

“Studies have been undertaken both in the “special needs” population and the general population. The agreed upon prevalence of FXS in males is approximately 1 in 3,600 to 4,000 and in females is approximately 1 in 4,000 to 6,000.”

Taken from: https://fragilex.org/fragile-x/prevalence/

In Canada the only statistic I could find was:

“It has been estimated that about 1 in 5,000 males are born with the disorder.”

Taken from: https://www.cdc.gov/ncbddd/fxs/data.html

Signs and Symptoms?

According to Medicine.net with a link below:

“The signs and symptoms of Fragile X syndrome have five general categories where individuals often show altered or arrested development.

  • Intelligence and learning (low IQs)
  • Physical (long face or jaw, short stature, enlarged testicles)
  • Social and emotional (anxiety)
  • Speech and language (stuttering and disorganized speech)
  • Sensory (sensitive to certain stimuli like sounds, balance problems)

The article contained the usual disclaimer that: “Each individual may exhibit variations in the above five categories.”

In general terms:

  • Females seems to be less severely impacted by Fragile X probably because female are wired differently changing developmental impacts and the fact that females carry two X chromosomes in comparison to the males solitary one.
  • Also, 30% males with Fragile X pass the criteria for being diagnosed with Autism.  But the difference according to Medicine.Net is the following:

“Features of autism and fragile X overlap, but the core deficit in autism is social interaction while the core deficit in fragile X is intellectual function and hyper arousal/anxiety.”

  • Lastly, the facial phenotype of Fragile X becomes more prominent after puberty. In regards to autism there is no facial phenotype or a certain genetic stamp.  Instead there seems to be both “developmental prosopagnosia” (DP) which is the inability or lessened ability to recognize faces whether human or animal — and a “flat affect” which is the inability or lessened ability to express the whole array of emotions on their faces.  Of course — “each individual may exhibit variations” is also my disclaimer.

With Autism — as I understand it — there is a myriad of systemic mutations in the person who lives with autism before and after birth — and when each person arrives at a diagnosis (if they can get one) they have arrived as an individual by their own path being helped by all sorts of different means.  For some addressing the food they eat makes a huge difference because they have major gut issues — but each individual on the spectrum is really unique with their own strengths and challenges.

What do Fragile X and Autism have in common?

In common with Fragile X was this statement from the Medicine.net article. I would say you could swap out “Fragile X” in the following statements and drop in the word “Autism”:

  • “Currently, there is no cure for Fragile X syndrome nor are there any definitive treatments other than helping the individual develop to their maximal potential through education; therapies such as speech, language, behavioral, and physical; and other therapies.”

  • “Medication therapy may only help certain individuals with certain severe problems and should be prescribed only by the patients’ doctors; there is no medication that can cure Fragile X syndrome.” And,

  • “Adults with Fragile X syndrome may benefit from a team approach to help the patient adjust to independent living, if possible.”

In conclusion, I believe that eventually they will discover which chromosomes are involved in Asperger’s Syndrome. I have noticed that there is a strong genetic link to that form of Autism.  There may someday be a blood test to find out who is a carrier. A friend/educator once told me early on to “Shake the family tree — and see what nuts fall out”. Maybe a blood test would be more definitive. 😉

For my husband and I, Autism was not even a concern when we looked forward to having a family.  Between when we got married in 1990 and had our first child in 1995 Asperger’s  became an actual diagnosis — but still any form of autism was not even on our radar.  However, today we have 20 years of experience living with autism and 15 years of research is under our belts.  Who knew?

Talk at you later — Share if you care!  Always — V’Ron

Here are the links I found and gleamed information from as promised:

http://www.medicinenet.com/fragile_x_syndrome/article.htm

https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx

Written by admin

Hi there! I am on Facebook under Veronica Aukema. Please feel free to check my Facebook page out. Although there is a lot of information provided about me there is a lot left out unstated. Between the lines -- you may gather upon a closer scrutiny that there is someone in my life who lives with Autism. Truth is there are two. John and I have three children and two of them live with Autism, and they are: a 20 year-old young man and a soon to be 18 year-old young woman. The original title of my lay press blog was going to be: "One Foot in 'Aspie' world -- and the other upon a banana peel." However since I also want to blog on health trends, faith and just plain 'what I learned the hard way', as well as -- autism issues "Straight Talk" was born. As I am a European Canadian and tend to be quite straight forward -- it kind of fits. Let the conversing begin. Always-- V'Ron

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