Neurofibromatosis Type 1

NF1 is a common co-morbidity with Autism

Chances are very high that if you’re diagnosed with Autism Spectrum Disorder — including Asperger’s Syndrome — you also have Neurofibromatosis Type 1, because they share a common cause that’s genetically transmitted.

Video by Columbia University Medical School, NY on synaptic pruning and autism

What are Type 1 Neurofibromas?

Please note: This is not strictly medical information, but based on a variety of sources, including people directly affected by NF1.

Type 1 Neurofibromas are typically benign and appear in THREE basic forms: cafe-au-lait stains, INTERNAL tumours and EXTERNAL tumours.

Café-au-lait Stains or Spots

These may appear on the skin of children from birth or at any subsequent time. They may be small spots, multiple spots or large markings, named for their colour and hue (literally “milk coffee”). They may also vary in intensity, from dark to barely perceptible.

They are very often the earliest indication of ND1, Autism or both.

View example images at  https://tinyurl.com/yysefubm

External Tumours

These can vary in size and shape, but are essentially growths caused by excessive synapses and their associated neurons continuing to grow on nerve endings outside the body. Their distribution and density can vary substantially as well, from tiny skin tags to large growths.

View images of different forms of external tumours at https://goo.gl/neM8sT

Most Type 1 external neurofibromas can be removed surgically.

Internal Tumours

These tumours form along major nerves inside the body. They’re ganglions of nerve cells and excessive synapses and dendrites (https://goo.gl/6EPyhk) that form compacted, semi-hard lumps that, if inflamed, can be extremely painful for prolonged periods of time. Inflammation may be caused by diet, pressure, or aggravation — such as from itching/scratching.

Because of the fact that these internal neurofibromas grow around major nerves — but are actually an integral part of those nerves — they’re very often inoperable because surgical removal typically results in loss of the underlying nerve functions.

View images of internal neurofibromas here: https://goo.gl/iN8FXH

Internal Type 1 Neurofibromas differ from more dangerous Type 2 Neurofibromas in several ways, but mostly because Type 2 often invades the spinal cord and brain, adversely affecting hearing, sight and speech.

We recommend…

If you or a member of your family is diagnosed with either Neurofibromatosis Type 1 or Autism Spectrum Disorder (including Asperger’s Syndrome), we strongly recommend requesting screening for BOTH conditions.

(You’ll need to consult a Neurologist for diagnosis of NF1 or NF2.)

This letter from leading neuroscientific researcher, Professor Christopher Bladin of the renowned Florey Institute in Melbourne, Australia, confirms the link between NF1 and ASD/ASx

Letter from Professor Christopher Bladin

Don’t panic!

It’s not the end of the world. I have both NF1 and Asperger’s Syndrome (ASx or ASD-1) and I was 56 years old before I knew I had either. At the time of writing, I’m nearly 74.

I was diagnosed with NF1 nearly two years before I was diagnosed with ASx/ASD-1. Life goes on for most of us.

Be very wary of catastrophising a diagnosis of either condition in regard to your child/children. The last thing they need is added stress or anxiety… in fact, one of your principle responsibilities as a parent will be reducing and preventing added stress for them, every day.

Learn more: Visit Aspergers Help Australia Facebook Page.

©2018 John Counsel. All rights reserved.

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