Due to the particular “social” status of an autistic patient, ethics in approaching autism and its treatments and research gain much consideration. There are many problems to be faced by relatives of autistic people, with consequences on the quality of life of all members of the family. Recent evidences indicate a negative impact on the employment of the parents of children with autism, with an increasing percentage of mothers that had to leave work or reduce it. The burden of care and surveillance amounts to an average for the family to 17.1 hours/day [5].

Autism is a disorder that persists throughout the entire existence, so that, autistic people need, throughout their life, continuous protection, assistance, as well as, prolonged specialized services and opportunities for independent adult life by the family. Psychological intervention in the clinical management of ASDs is a priority.

Once a child is diagnosed of autism, many hours per week are requested to perform an optimal treatment and structured behavioural and educational intervention, often at overwhelming expense to families. Applied Behaviour Analysis (ABA), a program that uses a one-on-one teaching approach that reinforces the practice of various skills, is now recognized as the most effective psychological treatment. ABA programs are usually performed in a child’s home under the supervision of a behavioural psychologist. However, ABA programs can be very expensive and have not been widely adopted by school or healthcare systems. The family also takes care of this aspect.

Autism spectrum disorders (ASD) are developmental disorders affecting 1:88 children, and which appear to be associated with a variety of complex immune dysregulations including autoimmunity. The enzyme, alpha-N-acetylgalactosaminidase (Nagalase) deglycosylates serum Gc protein (vitamin D3 – binding protein) rendering it incapable of activating macrophage defenses. Increased Nagalase activity has been associated with a variety of malignancies, immune disorders and viral infections. Macrophage activating factor (GcMAF) has been repeatedly published as an intervention to lower serum Nagalase activity for a variety of cancer and HIV patients. GcMAF is a naturally occurring protein with well-established safety and therapeutic benefit(s) supported by numerous human studies.

Methods: Initially, parents of 40 individuals with ASD sought testing for Nagalase serum activity as part of an evaluation of immune dysregulation. Nagalase enzyme activity measurement was performed by the European Laboratory of Nutrients (ELN), Bunnik, the Netherlands, using an end-point enzymatic assay of a chromogenic substrate. Some parents of patients with elevated Nagalase activity opted for weekly GcMAF injections provided by Immuno Biotech Ltd., Guernsey UK (www.gcmaf.eu). GcMAF is purified from human serum obtained from the American Red Cross using 25-hydroxyvitamin D3-Sepharose high affinity chromatography. The protein is then further diluted to obtain therapeutically appropriate levels for patients based on their clinical presentations.

Ok this is not a pretty picture (throat of 7 year old boy with autism). Those tonsils are moderately enlarged, red and the soft palate and the uvula (“punching bag”) are swollen as well.  The child had no fevers, no difficulty eating, and apart from a huge increase in obsessive – compulsive behaviors (OCD) his parents didn’t have a clue something was up with his throat.  They Googled OCD and Autism and wound up reading a bunch of posts and articles about PANDAS.

After reading about PANDAS they decided to bring him into see me. PANDAS stands for pediatric autoimmnue–neuropsychiatric-disorder-associated with- Streptococcus. I’ve seen this a lot.  Children with autistic issues seem unusually vulnerable to strep in a way that triggers increased obsessive and compulsive behaviors . Essentially what happens is the body’s immune cells (already on over-drive in autism), see the strep bacteria and mount an immune response.  They make antibodies to the strep bacteria (the way we want them too), but that is where things get off track. Those antibodies cross-react with the brain in way that triggers the OCD type of behaviors.  It can also trigger tics and other odd movements.


Autistic disorder (autism) is a behaviorally defined developmental disorder with a wide range of behaviors. Although the etiology of autism is unknown, data suggest that autism results from multiple etiologies with both genetic and environmental contributions, which may explain the spectrum of behaviors seen in this disorder.

One proposed etiology for autism is viral infection very early in development. The mechanism, by which viral infection may lead to autism, be it through direct infection of the central nervous system (CNS), through infection elsewhere in the body acting as a trigger for disease in the CNS, through alteration of the immune response of the mother or offspring, or through a combination of these, is not yet known. Animal models in which early viral infection results in behavioral changes later in life include the influenza virus model in pregnant mice and the Borna disease virus model in newborn Lewis rats.


Epidemiological evidence indicates a significant association between vitamin D deficiency and an increased incidence of autoimmune diseases. The presence of vitamin D receptors (VDRs) in the cells of the immune system and the fact that several of these cells produce the vitamin D hormone suggested that vitamin D could have immunoregulatory properties, and now potent immunomodulatory activities on dendritic cells, Th1 and Th17 cells, as well as B cells have been confirmed.

Serum levels of vitamin D have been found to be significantly lower in patients with systemic lupus erythematosus, undifferentiated connective tissue disease, and type-1 diabetes mellitus than in the healthy population. In addition, it was also found that lower levels of vitamin D were associated with higher disease activity in rheumatoid arthritis.

Promising clinical results together with evidence for the regulation of multiple immunomodulatory mechanisms by VDR agonists represent a sound basis for further exploration of their potential in the treatment of rheumatic autoimmune disorders.

First published April 12 2011

Let’s talk about the link between our fellow travelers (all the bacteria, viruses and other organisms residing with us – actually mostly in us). Biological psychiatry is just coming to terms with the microbiome/microbiota, and its influence on the function of the brain. As we collectively try to understand the influence of this unseen influence on the human condition, we cannot forget the influence of our shared viral travelers.  The obvious viruses, herpes as an example, exist with us from our first encounter until the end of our days. But many viruses are capable of lifelong cohabitation with humans.

The most obvious viruses are; Human Papilloma (HPV), Herpes Simplex (HSV), Cytomegalovirus (CMV), Hepatitis (Hep B and C as well as others), Human Immunodeficiency (HIV), Epstein Barr (EBV – mononucleosis), Varicella (chickenpox), Measles, Polio, SV40, BK and JC. XMRV is a potential new addition to this list, and despite its controversy I believe it is a true human pathogen.  My belief in XMRV as a necessary member of the list is based on both PCR and anti-XMRV antibodies, not merely XMRV PCR (genetic) material. 

Some of these have a potential legacy with autism.  We discussed this in an earlier post. But this viral community interfaces with the bacteria community in complex and incompletely understood ways. 


Early studies on vitamin D showed promise that various forms of the “vitamin” may be protective against chronic disease, yet systematic reviews and longer-term studies have failed to confirm these findings.

A number of studies have suggested that patients with autoimmune diagnoses are deficient in 25-hydroxyvitamin D (25-D) and that consuming greater quantities of vitamin D, which further elevates 25 D levels, alleviates autoimmune disease symptoms.  Some years ago, molecular biology identified 25 D as a secosteroid. Secosteroids would typically be expected to depress inflammation, which is in line with the reports of symptomatic improvement.  The simplistic first-order mass-action model used to guide the early vitamin studies is now giving way to a more complex description of action.

Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome.


Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps.

Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shared abnormality in genome-wide expression patterns.