Detecting patterns and drawing connections is a natural way of navigating life and making sense of the world. But sometimes these connections, though seemingly absolute, are faulty. Several in our Marfan community have drawn a link between autism and MFS, but does one exist? Dr Child has a considered opinion.

By Dr Anne Child & Victoria Hilton

Q: Parents on my Marfan UK site have again brought up the question of the possibility of a link between Marfan and autism and I wondered if my physicians’ research had helped to link the two or is it too early to say?

A: In my experience and in the medical literature there is no increased frequency of autism in Marfan syndrome. You must remember autism is very common in the general population. Autism is defined by the National Institute of Mental Health as a condition “affecting how people interact with others, communicate, learn, and behave. Although autism can be diagnosed at any age, it is described as a “developmental disorder” because symptoms generally appear in the first two years of life.

Autism affects up to 1 in 100 people and the incidence of Marfan syndrome is 1 in 3000 people. There will therefore be those within the Marfan community who have both.

However, there is a definite link between autism and Ehlers Danlos (EDS) syndrome- a similar Collagen deficiency (not fibrillin deficiency).

So much so, that if a patient has Marfan syndrome and autism, I would look at the diagnosis carefully to make sure the Marfan diagnosis is not Ehlers Danlos instead. Is there a fibrillin mutation? If not, the diagnosis may well be EDS not Marfan.

Does anyone amongst our population have Marfan syndrome and autism?

The Marfan Trust is registered in England and Wales under charity number 328070 at c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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