Autism Linked to Rare Disorders

Neurofibromatosis

Neurofibromatosis (Photo credit: Wikipedia)

Autosomal dominant pedigree chart. In Autosoma...

Autosomal dominant pedigree chart. In Autosomal Dominance the chance of receiving and expressing a particular gene is 50% regardless of the sex of parent or child. (Photo credit: Wikipedia)

English: The oldest known case of Noonan syndr...

English: The oldest known case of Noonan syndrome, described in 1883 by Kobylinski (Photo credit: Wikipedia)

I thought I would put this information out there to my readers that are in this current situtation. If you are in this situation, I am praying for you.

About one in four people diagnosed with a group of rare disorders have autism, according to a study published 7 October in the Journal of Medical Genetics1. The disorders all affect the same cancer-related pathway, driven by a protein called RAS.

The four rare disorders — neurofibromatosis type 1 (NF1), Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome (CFC) — are bound by one common theme. In each case, a single-gene mutation enhances the signaling of a pathway driven by RAS, earning them the moniker ‘RASopathies.’

Of the four disorders, NF1 has the strongest documented links to autism2, and there are a few reports of autism-like features in people with the other disorders. The new study is the largest to look at the connection, however, and the first to look across multiple RASopathies.

For each participant, caregivers filled out the SCQ or the Social Responsiveness Scale (SRS) — a parental questionnaire that rates the severity of autism symptoms. The researchers have data from both questionnaires for 439 of the 521 participants.

Based on SCQ scores, the researchers found variable rates of autism among the four disorders. For example, 54 percent of people with CFC have autism, compared with 11 percent of those with NF1. These differences may reflect how severely the disorder disrupts the RAS pathway.

As with autism in general, symptoms of autism are more prevalent in men than in women with RASopathies. However, this also varies across the disorders, with NF1 showing the strongest gender bias (about one-quarter of males and no females with the disorder have autism) and Noonan syndrome showing none.

You can learn more about these rare disorders at this link. https://sfari.org/news-and-opinion/news/2013/cancer-pathway-connects-autism-to-set-of-rare-disorders

It is a great article for which I have taken the above info. from.

 

 

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