I have found recent research of Italian subjects linking a MTHFR mutation to NTDs (Neural Tube Defects) of which Arnold-Chiari Malformation is either a member or a very close cousin. Additionally, I have found different research that indicates that the same MTHFR mutation can manifest as Aspergers (or high-functioning autism).
I have 2 children ... one was born with a hairy sacral patch and a sacral dimple (suspected of spina bifida and tethered cord syndrome, neither confirmed, but plenty of opposing doc opinions) and later we found the Arnold-Chiari Malformation. My older child has Asperger-like behaviors (Autism Spectrum Disorder), OCD, and Sensory Processing Dysfunction.
I am curious if there has been a study of siblings to determine if MTHFR could be the missing link in causing this sort of "coincidence".
Also, MTHFR mutations can cause pre-eclampsia in pregnancies. I was borderline pre-eclampsia for my first child.
From what I understand NTD's, spina bifida, and Asperger's can come from a lack of folate during pregnancy which can definitely be caused by the MTHFR gene mutation as it hinders your body from absorbing folate properly. My family has a huge variety of issues and the only link is we all have MTHFR.
Absolutely correct. While there are debates and speculation with respect to MTHFR in many areas of the medical profession, there are studies that show that MTHFR (specifically homocystenemia & deficiencies in Folic Acid) are linked to NTD's and also chromosomal abnormalities. My first son was born with Down syndrome, my second pregnancy ended in Fetal Demise, and my third was a chemical pregnancy. I learned after these that I had the MTHFR variant C677T. I have since then been treated with various medications including the 200% increase in Folic Acid, the 100mg vitamin B6 & 12, LD baby aspirin and also Lovenox 40mg injections daily. I am now currently 5 weeks pregnant and very hopeful.
If anyone is interested in further information, I have since created a new Group Forum here on MedHelp called MTHFR - you can visit or join here: http://www.medhelp.org/forums/MTHFR-Methylenetetrahydrofolate-reductase/show/961
Good luck and hopefully you will find the right information and treatments to help. While they say in some sites that MTHFR is a "rare" mutation, it's more common then doctors think. It's how it affects each person that is key.
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator
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