Neurodevelopment

Autism is not a disease. It’s not even a syndrome. It’s more like a spectrum of different phenotypes affecting social, verbal and behavioral abilities. This is the main reason why there is no specific treatment for autism. Only occupational and speech therapies have consistently been shown to improve several aspects of autistic traits while drugs, like risperidone or aripiprazole, aim only at reducing irritability and aggressiveness, with mixed results and many side effects. Biochemical Data Mining is extremely useful in such a diverse spectrum of disorders. There are several levels of biochemical investigation that may provide useful information in the context of an individual autistic phenotype.

Levels of investigation in an ASD context​
Chromosomal
Chromosomal
Chromosomal abnormalities are now known to affect up to 8% of all autism cases. The development of high resolution techniques, like aCGH, have allowed the discovery of several deletions, duplications, insertions and even larger microabberations which contain crucial genetic information linked to autistic traits. Knowing the exact abnormalities is very useful, especially when the diagnosis is made early enough
Genetic
Genetic
The database of gene polymorphisms implicated in autistic behaviors is constantly growing. There is great interest in discovering tight correlations between specific genes and autism as this will lead to better prenatal testing and new treatments. It is also very useful for a family with an autistic child, to have all the child’s genetic information for future reference​
Biochemical
Biochemical
Biochemical findings of laboratory tests may be either the result of autistic traits or a pathologic one. In the former situation, several behavioral features, like extreme picky eating may alter biochemical values. In the latter, several biochemical findings, like low creatinine values or elevated NSE values, may be of diagnostic value​
Imaging
Imaging
Currently, both structural and functional imaging studies agree on the hypothesis that autism is associated with abnormal connectivity (either hyper- or hypo-), probably producing a system that is ineffective to properly process complex information. Very recently developed methods point to highly disorganized neuroimmune regulation during early development.​
Humble Opinion
We are what we cannot forget

I have assessed too many diagnostic (imaging and laboratory) profiles from autistic children along with their medical history. An observation that’s reproducible, in almost every case of atypical autism, is regression. Regression means that a capability or a skill that a children has achieved for some reason cannot be executed. In fact, children have acquired a skill or knowledge, however they can not consistently exhibit repeatability and correct timing. Therefore, it seems that these children are not incapable of learning something. On the contrary, according to imaging studies, measurements of the synaptic density (the atypical brain learning unit) are very high. In other words, these children have difficulty executing actions they have already learned and already executed in the past. A paradigm shift in the way we consider autism is necessary.

My opinion is that we should treat autism (and accordingly the way we research autism) not as a failure to learn socially relevant behaviours entity, but as a failure to forget irrelevant ones. This may be difficult to understand but I will try to explain it as simply as possible. The mechanism, through which we establish new memories may be a neural one, but the mechanism through which we dump old and useless ones is an immune one. This is why neuroimmunology is the neuroscience section that seems to be very promising for autism research. Erik Candel, a famous neuroscientist, pioneer in memory research and one of my personal science superheros, says that “we are what we can remember”. Paraphrasing him, in an ASD context, I would suggest that “we are what we cannot forget”.

Case Studies
No data was found
Other Applications
Digestive Disorders
A thorough assessment of the complex interplay between the different components of the GI tract, from the mouth to the anus, is vital for accurate diagnosis and the selection of the most effective treatment
Autoimmunity
Innate, adaptive passive and humoral…. All kinds of molecules and cells interact to form the most complex system in nature. Even two identical immune responses may give different disease phenotypes
OH N H O
Pediatrics
Infants, toddlers and teenagers have distinct metabolic features making their biochemistry unique in every way. Constant hormone fluctuations and evolving developmental stages should always be taken into account
Rare
Nausea, fatigue, migrating pain, symptoms that fluctuate according to the time of the day. All sorts of peculiar symptoms originate from a disorganized biochemical system