Tracing the genetic sources of Asperger’s Syndrome in families

By John Counsel

I’m an Aspie. My mother was an Aspie — and her mother was almost certainly an Aspie, based on these two factors:

  • They both had Neurofibromatosis Type 1 (personal memories, journals and large photo portraits with clearly-identifiable Neurofibroma Type 1 external tumours/skin tags on their faces/heads).
  • Their behaviour — classic Aspie eccentricities and characteristics according to 21st century diagnostic criteria.

Using family histories and stories collected over more than 150 years, and large family portraits (photographic) dating back to the 1860s, there’s clear evidence of Neurofibromatosis Type 1.

(Example: One of our male progenitors on my mother’s (#4) maternal line in the late 1800s married a lady whom the younger generation — including my grandmother (#3) and her older sister, both of whom used to tell us detailed stories about their family during the Gold Rush era around Ballarat, Victoria, Australia — called “Warty Auntie Lizzie”. She had multiple NF1 tumours over her face and body, and her behaviour was decidedly ‘quirky’.)

If we include all of the known progenitors who likely qualify as Aspies, I’m actually a FIFTH generation Aspie, and all FIVE of my adult children and most of my FOURTEEN grandchildren are also Aspies. I’m #5 in the montage above. I was also the first diagnosed, with NF1 in July 2000 and with ASx on 24 December 2002, aged 57.

On my father’s paternal line, there are strong indications (behavioural) of ASx from my great-grandfather down. His eccentric behaviour is recorded in multiple court records in Australia, New Zealand and England. At the time it was regarded as basically bizarre, but it fits the now-familiar traits of many Aspies.

My grandfather had many similar traits, although not as problematic socially and legally as his father, while my own father showed signs of both NF1 and ASx — although much less obvious.

So… as a former teacher with a major — and extended studies — in psychology and with a sister — also a retired teacher — who is almost a forensic genealogist who has traced most of our ancestral lines back as far as the 8th century to the 10th century, in extraordinary detail (she regularly took leave of absence from her teaching positions in Melbourne to spend 6 to 12 months at a time in the UK and Europe to travel extensively on researching our family history), you might say that we’re quite well-placed to identify likely genetic sources of these comorbidities over time as they emerged within the family.

The Bottom Line:

Asperger’s Syndrome, Autism and Neurofibromatosis Type 1 have distinctive indicators, all of which are genetically transmitted from one generation to the next.

While some research indicates there may be other possible causes, the overwhelming majority of cases are the result of genetic transmission from parent(s) to child.

These conditions tend to go hand-in-hand, suggesting a common cause.

In almost ALL cases, if you want to know the immediate source of your child’s Asperger’s Syndrome, Autism or Neurofibromatosis Type 1, get hold of the other genetic parent and stand side-by-side in front of a mirror. There’s your answer…

One — or both — of you are the most probable source.

We recommend that BOTH parents be assessed to confirm the facts.

Letter from leading Neurologist and researcher confirming the link.

Read more… Diagnosing People With Autism and Asperger’s Syndrome Who Died Before 1994 (when Asperger’s Syndrome was officially recognised)

©2018 John Counsel. All rights reserved.

Learn more: Visit Aspergers Help Australia Facebook Page.

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