Wednesday, 11 February 2015

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndrome

Today’s post is to refer the scientists among you to a very thorough paper looking at possible drug therapies for two specific variants of autism, Fragile X and Rett Syndrome.

These are single gene autisms and, as such, it is very much easier to study them than classic autism(s) or regressive autism(s).

We have already seen that much can be learnt from Fragile X and Retts.  What helps treat these disorders may give useful pointers to treat other types of autism and some therapies may be directly transferable, in some cases.

Note the use of baclofen, memantine, lovastatin, rapamycin, a PAK inhibitor, two potassium channel drugs, oxytocin, and even lithium.

Ganaxalone is a positive allosteric modulator of the GABAA receptor, probably affects the neurosteroid site.  It does not have the drawbacks of benzodiazepines.  I wonder whether it exhibits interesting effects at tiny doses? 

Tuning GABAa receptors
Treatment of Autism with low dose Phenytoin

Acamprosate appears to be neuro-protective, but the mechanism of action is unknown and controversial.  It is a drug a drug used for treating alcohol and benzodiazepine dependence.  A surprising number of off-label autism drugs are used for to treat substance abuse.

The paper is well worth a read for those who are heavily into the subject.


  1. Hi Peter,

    I know you have written posts specifically on choline but I could not find mention of phosphatidylcholine. I say this as I came across a nootropic called Neuroflexyn - you likely have also. It purports to boost concentration, thinking, memory and IQ.

    Many of the reviews I came across report it to be a scam product but someone did make reference to a Princeton study of phosphatidylcholine as being effective. I'm curious to the effectiveness of phosphatidylcholine in Autism. Because you have covered cholines, have you any thoughts on its effectiveness? Complex language, attention and memory are purported to derive benefit.


    1. Most users/vendors of nootropics add a source of choline to increase their effect. Phosphatidylcholine breaks down to produce choline and indeed betaine (used by some DAN doctors to "normalize methylation").

      The research shows that Phosphatidylcholine may help with inflammatory bowel disease but may increase risk of heart disease. Look on Wikipedia.

      I would suggest trying a choline supplement. It affects a key brain pathway, and if you are hypo/hyper there should be an effect, if . For my son it was an immediate bad effect. It could indeed be used as a simple diagnostic tool.

      There are some very safe nootropics. Piracetam has been around for several decades. Vinpocetine is a nootropic, but has also been shown in serious trials to treat Tinnitus. Both are prescribed as drugs in some countries and used as supplements in others.


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