Although there has been a great amount of research directed towards the study of autism, the results of these efforts have been severely handicapped by the exclusion of autism from major population studies.

“Children with blindness due to retinopathy of prematurity (ROP)—who are at greatly increased risk of cerebral damage - have been noted to have a high rate of autistic symptoms, but systematic controlled studies have been lacking. A controlled population-based study was performed; one group was blind due to ROP (N=27) and the other was congenitally blind due to hereditary retinal disease (N=14). Fifteen of the 27 children with ROP had autistic disorder.”

The lesser understood condition of autism often goes unrecognized when a co-occurring disability such as deafness has been identified. At the same time, children with a diagnosis of autism are often not further evaluated to identify a possible co-occurring condition of deafness. In 1991 “The charts of 46 children diagnosed as deaf and autistic were reviewed. Nearly one-fifth had normal or near-normal non-verbal intelligence and only one-fifth had severe mental deficiency. The severity of the autistic behavior was related to the severity of the mental deficiency, but not to that of the hearing loss. In 11 of the 46 children, autism went unrecognized for over four years after the diagnosis of hearing loss, and in 10 the hearing loss went unrecognized for several years after the diagnosis of autism. The educational experience of some children was generally disastrous because of the frequently late and incorrect diagnoses and the lack of specialized facilities for hearing-impaired autistic children.”

The evidence which supports the elucidation of autism as a disorder of pigment metabolism is growing as the co-occurring disorders are identified and documented. Scientific research continues to produce new insights into the pigment metabolism and how its dysregulation relates to other symptoms and disorders also associated and co-occurring with autism i.e. anorexia nervosa/eating disorders, circadian rhythm/sleep disorders, circannual/ seasonal affective disorder, abnormalities in tryptophan metabolism, retinitis pigmentosa, retinopathy of prematurity, scotopic sensitivity syndrome. The research and elucidation of the autism pigment metabolism will produce information concerning co-occurring disorders such as trichotillomania which may then be used to determine the underlying metabolic cause or causes of these disorders.

Autism is a movement disorder at the cellular level, involving the immunomodulation of pigment metabolism. The immune system contributes to the individual variables necessary for skin, eye and hair pigmentation while at the same time removing pigments through the eyes, ears, nose, skin and bodily waste products often resulting in the diseases, disorders and contributing to the genetic conditions associated with or co-occurring with autism. In a normal metabolism the movement of the pigments through the body is coordinated through closed and unclosed feedback loops dependent upon genetic, metabolic and environmental variables. In an abnormal population such as autism, the immune system interferes with ‘normal’ pigment regulation and influences metabolic processes for the protection of vital function while continuously monitoring the pigment pathogen access and removal pathways.

Circadian rhythm
“Many parents of autistic children are now familiar with the pineal gland for its role in melatonin secretion. Less familiar is the pineal gland’s function as a regulatory gland to environmental stimuli, metabolism, immunity, adrenal glands, behavior and brain chemistry. The pineal gland could be the connecting link in current theories, research and treatments for autism. A very important feature to note about the pineal gland is that the pineal gland is not protected by the blood brain barrier.” The pineal gland function will be disturbed when lutein is removed via the immune system. “John Panskepp Ph.D. in his article ‘Melatonin The Sleep Master’ shares with us the role of melatonin to coordinate our ‘SCN Clock’: ‘This clock-like control center is situated in two small clusters of neurons at the base of the brain called the suprachiasmatic nuclei (SCN) which, as the name implies, are situated directly above the optic chiasm, the place where half the nerves from each of our eyes cross over to the opposite halves of our brains. The many output pathways from the SCN control practically all behavioral rhythms that have been studied, from feeding to sleep. When both nuclei are destroyed, animals scatter their behavior haphazardly throughout the day instead of maintaining a well-patterned routine of daily activities.’ ”

In the autist, the signals coming from food and light are not received or dispersed as in the normal metabolism. Polarity is altered affecting left-right activity and synchronicity so that the sights, sounds and other vibrations do not come in and are not sent out in the synchronized way that they are in a normal metabolism. There may be a delay on one side and not the other. There are often changes in day-night activity cycles. Autists see differently and hear differently. They also think differently, as the signaling differences affect brain dominance and handedness, leading to conditions such as dyslexia. They may have an itch on one leg and scratch the other leg. These things are frustrating and overwhelming.

To fully identify the possibility of this immune system response and state that autism is a manifestation of symptoms brought about by this immune reaction the connection between movement, pigment and known scientific data on autism must be shown. Therefore the relationship between the purkinje neuron cells, dynein and pigment must exist. “Immunohistochemical experiments have demonstrated that dynein is localized in purkinje cells of cerebellum and axons of central and peripheral nervous systems.” This coupled with the data which “show that dynein is involved in the homogeneous distribution of dispersed pigment” should be adequate to justify the potential of the hypothesis. In addition to these factors is the overwhelming identification of the co-occurring disorders of autism and their relationship to the pigment metabolism.
  There must also be shown the relationship between these factors, purkinje cells and pigment, and their relationship to the immune system. This information must fit within the knowledge database thus collected in relationship to autism. It has been indicated that neurofilament antibody is a consistent marker for autism. From Dorland’s 28th edition: “Neuroglia: The supporting structure of the nervous tissue consists of a fine web of tissue made up of modified ectodermal elements, in which are enclosed peculiar branched cells known as neuroglial cells or glial cells. The neuroglial cells are of three types: astrocytes and oligodendrocytes (astroglia and oligodendroglia), which appear to play a role in myelin formation, transport of material to neurons, and microcytes (microglia), which phagocytize waste products of nerve tissue. Called also glia.” So, if the types of neuroglial cells associated with myelin formation are not effected, as can be indicated by CSF testing, then we are left with the neuroglial cells which are associated with phagocytosis. One type of phagocyte cell is the macrophage. In the brain this is called myelinophage, in the liver kupffer cells. The primary function of these cells are to break down and remove substances the immune system marks as ‘non-self’. In studies dating back to 1952 carotenes, bilirubin, methemoglobin and the levels of these and other pigment wastes in amniotic fluid have been used as a marker to determine the fetal environment. High or toxic levels of pigment wastes in the amniotic fluid are still used as a rationale for inducing labor. The color of the amniotic fluid at birth gives clinical evidence for determining the potential for newborn distress factors. Elevated bilirubin is a consistent marker in infants later diagnosed with neurological impairment. Bilirubin is said to remain in the brain once it has reached this destination. However, I believe that with the autist, the immune trigger is pigment and that the phagocytosis is the immune system’s attempt to remove the hapten from the brain through the Cerebral Spinal Fluid, thus the lack of evidence for brain deposits of bilirubin in the autopsied brains of autists who have as a marker high bilirubin levels at, or shortly after, birth. This area of investigation has been tragically overlooked as scientists search for the genetic cause. Research into the phagocytosis of the pigment metabolites (pterins, carotenoids) and the improvement for many using dietary intervention removing the pigments from their diet leading to improvement and ‘symptom free’ results has certainly not been given funding although the latter has produced some of the most dramatic case histories available.

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