Springboard Health Nutrition notebook Health information
Health Problems  pixels Return home
2 pixels

Causes. Etiology and Biochemical Abnormalities of Autism


Alan Schwartz, M.D.
Medical Director: Holistic
Resource Center
29020 Agoura Road, Suite A-B
Agoura Hills
, CA 91301 (818) 597-0966

Supporting a lecture given on Sunday October 10, 2004 at Conference:
Maximizing Children’s Potential: Treating Autism, PDD and AD(H)D

An Introduction to Autism and its Characteristics with a Brief Discussion of Related Disorders

What Is Autism?

Are Autistic Children retarded?

Are there Different Kinds of Autism?

What are the Autism Spectrum Disorders (ASD)?

What is Asperger's Syndrome?

What Is Rett Syndrome?

What is Childhood Disintegrative Disorder?

What is Tourette's Syndrome?

What is AD(H)D?

What are the Characteristics of the Autistic Child?

What Is Autism?

Autism is a complex developmental disability that typically appears during the first three years of life. It manifests as a disorder that affects the functioning of the brain and other bodily processes.

Autism and its associated behaviors and manifestations have been estimated to occur in 2 to 6 per 1,000 births (Centers for Disease Control and Prevention, 2003). The reported incidence of autism has increased dramatically in the last 30 years, and not just in the U.S.

Autism is four times more prevalent in boys than girls and knows no racial, ethnic, or social boundaries. Family income, lifestyle, and educational levels do not affect the chance of autism's occurrence, however certain environmental influences certainly do.

Are Autistic Children retarded?

No, but they may fit the criteria for retardation if they are not treated appropriately or early enough in the course of the disease. Autistic children, once “normalized,” are as smart as any other children, and many seem be more intelligent than average.

Are there Different Kinds of Autism?

Yes. When autism was first described by Dr Leo Kanner of Johns Hopkins Hospital in 1943 (he categorized the symptoms after observing 11 children with this disorder) the incidence was estimated to be one in every ten thousand births.

At that time the condition seemed to be evident shortly after birth. This type of birth-onset autism we now label Classical Autism. The incidence of Classical Autism has not changed since the illness was first described. It still occurs in about one or two out of every 10,000 births.

However, the kind of autism that predominates today differs from Dr. Kanner’s Classical (“Infantile Onset”) Autism in that the symptoms of autism do not appear right after birth, but rather much later in the child’s development-often between one and two years of age (sometimes sooner, sometimes later).

This variety of autism is called Delayed-Onset or Regressive Autism and appears to be epidemic. The incidence of regressive autism is frighteningly high and increasing. Today varies between one out of every 85 births ( Scotland ) to one out of every 160-300 births (most of the U.S. ).

Children with regressive autism often develop normally for the first year of life, and sometime after that age they appear to regress or else fail to progress development-ally.

What are the Autism Spectrum Disorders (ASD)?

Autism today is listed as a psychiatric/neurological disorder (although it clearly is a lot more than that), and represents one of five conditions listed under the general heading of Pervasive Developmental Disorders (PDDs). These include Asperger’s Syndrome, Rett Syndrome, Childhood Disintegrative Disorder and a catch-all category called Pervasive Developmental Disorder, Not Otherwise Specified [PDD-NOS].

These, together with attentional deficit disorders with or without hyperactivity, tic disorders (including Tourette Syndrome) and obsessive and compulsive disorders (OCD) are often classified as disorders on the autism spectrum, because they all overlap in both symptomatology, and in many cases, in commonly seen laboratory abnormalities.

What is Asperger’s Syndrome?

At about the time that Dr. Kanner was describing the manifestations of the condition that he called “Early Infantile Autism” a German scientist named Hans Asperger was describing a milder form of this condition which has ever since born his name. Asperger Syndrome-afflicted individuals exhibit high functioning and intelligence, but their social abilities are limited as is their spectrum of interests.

What Is Rett Syndrome?

Rett syndrome is a true progressive retardation disorder that occurs almost exclusively in females, and, like Classical Autism, is relatively rare (occurring in one out of every 10,000 to 15,000 births.) It is caused by an identified genetic defect, which results in autistic symptoms appearing after 6- 18 months of age.

Children with this disorder often wring their hands and exhibit severe mental and developmental deficiencies. They withdraw socially, appear to not recognize their parents or others and exhibit severe coordination and communications impairments. Physical, occupational and speech therapies may be of limited help in improving their functioning.

What is Childhood Disintegrative Disorder?

Very few children who have an autism spectrum disorder (ASD) diagnosis meet the criteria for childhood disintegrative disorder (CDD). An estimate based on four surveys of ASD found fewer than two children per 100,000 with ASD could be classified as having CDD. This suggests that CDD is a very rare form of ASD. It has a strong male preponderance.

Symptoms may appear by age 2, but the average age of onset is between 3 and 4 years. Until this time, the child has age-appropriate skills in communication and social relationships. The long period of normal development before regression helps differentiate this from delayed onset or regressive autism.

What is Tourette’s Syndrome?

“Over 100 years ago, the French physician Georges Gilles de la Tourette wrote an article in which he described nine individuals who, since childhood, had suffered from involuntary movements and sounds and compulsive rituals or behaviors. In his honor, this constellation of symptoms was named Gilles de la Tourette's Syndrome.

Today, we recognize that Tourette's is a spectrum disorder, with some people having a few tics and others having tics plus features of other conditions such as obsessions, compulsions, inattention, impulsivity and mood variability.” [tourettesyndrome.net]

What is AD(H)D?

The acronym AD(H)D stands for attentional deficit disorder (with or without associated hyperactivity). Children with this disorder have trouble paying attention, focusing, making good eye contact and remembering what has been said to them. They are easily distracted. If also hyperactive they may be fidgety, in constant motion, moody, quick to anger or to cry and some may be aggressive at times.

Many children with ADHD have a SNP (Single Nucleotide Polymorphism: a variance in the gene that codes a protein) for an important brain enzyme called methionine synthase (associated with the D4 receptor for dopamine). The function of this enzyme is to add methyl groups to certain fatty chemicals called phospholipids that reside in the cell membrane. The term “methyl group” refers to a carbon with three hydrogen atoms attached to it.

When the membrane-bound phospholipids acquire the methyl group they influence the activity of certain channels in the cell membrane, which allow calcium into the cell thereby activating it. The functional result of all this is to make the brain alert and focused. Children with this variant gene do not add methyl groups to the membrane-bound phospholipids as readily, and therefore have trouble with attention and focus. We think that many autistic children probably harbor the same dysfunctional enzyme.

As we shall see the methionine synthase gene is also important in one other biochemical reaction of vital importance in the etiology of autism.

Like autism, ADD and ADHD occur more often in males, especially blond males, and the incidence appears to be increasing. Many physicians and scientists believe that the dramatic rise in ADHD diagnosed children, which parallels that of autistic children, is a reflection of biochemical dysfunctions that are commonly seen in autistic children as well.

What are the Characteristics of the Autistic Child?

Autistic children generally exhibit the following characteristics:

  • Problems in socialization: they often don’t interact well or appropriately with others. Severely autistic children may almost totally ignore others.
  • Problems in communication: Autistic children may never develop language, or may develop it only to lose it for a period of time, or may develop language skills very slowly. Some exhibit echolalia: the tendency to repeat words or phrases that they have just heard. Some can memorize whole passages from movies they have seen or songs that they have heard, but not understand what they are parroting. This defect appears to be due to a relative deficiency in the production of Creatine, an energy molecule found throughout the body and essential for speech and communication.
  • Restricted patterns of behavior and interests: autistic children are often limited in their interests and activities. They often are very restricted in their imaginative play, often preferring to play with just one toy or a part of a toy. For example, many autistic children enjoy watching objects spin or move and become fascinated with the wheels on toy cars and trucks.
  • Repetitive behaviors (also called “stimming” or self-stimulating behaviors) These include jumping up and down, making noises, flapping the hands, moving the fingers in unusual and repetitive ways, head banging, rocking and many others.
  • Bizarre behaviors: some autistic children will regard an object or person out of the corner of their eye rather than looking straight at that person. Some will hold their fingers close to their eyes while moving their fingers. Some will purpose-fully injure themselves by biting their own body parts or by head banging. Toe walking is not uncommon.
  • Signs of Intestinal Disturbances: Many autistic children will press their abdomens against furniture or other objects in order to relieve their intestinal discomfort. Many have bloated abdomens, diarrhea and infrequent bowel movements, which are often foul-smelling. About 60% of autistic children experience these signs of intestinal dysfunction. Many have intestinal yeasts and bacteria that produce neurotoxic substances. About 20% show hypertrophic (overgrown) lymph nodes in the intestinal tract (nodular hyperplasia) and about 60% show evidence ! of inflammation and even ulcerations throughout the GI tract.
  • Obsessive and compulsive behaviors: like lining up toys and other objects.
  • Attentional deficits and hyperactivity: Autistic children are often easily distracted, unable to focus or concentrate. They often don’t make good eye contact. Many are very active. This problem, as in children with just ADHD or ADD disorders, may be due to commonly seen dysfunctions in the methionine synthase gene, previously alluded to. Remember that methionine synthase in the cell membrane functions in the transfer of methyl groups to membrane-bound phospholipids. When this methyl group transfer does not occur at the appropriate rate then certain calcium channels (regulate by glutamate receptors) don’t open sufficiently, and when calcium doesn’t enter the neuron in sufficient amounts then the cell is insufficiently stimulated. The end result is lack of attention and focus.
  • Hypersensitivity to sensory stimuli. Many autistic children are sensitive to loud sounds, crowd noise, bright lights and touch. Some like to be swaddled tightly. Others have problems with the tastes and textures of certain foods. Most are extremely picky eaters who crave carbohydrate-rich foods and refuse to eat other, more nutritious foods. Sensory issues are often related to dysfunctions in a class of proteins known as the metallothioneins (me-TAL-oh-THIGH-oh-neens). Their function will be discussed in more detail later in this narrative.
  • Intestinal Dysfunction: many autistic children have problems with digestion and assimilation of nutrients. They may have constipation or diarrhea, smelly bowel movements, abdominal pains and bloating. Some show signs of malnourishment, and some have retardation in their growth..
  • Sleep Disturbances; many autistic children don’t sleep well; many arise way too early in the morning.
  • Tics: Tics are purposeless movements or sounds and are much more common in autistic children. Perhaps one in five autistic children experience tics.
  • Restricted Dietary Desires: Autistic children are often carbohydrate addicts and are frequently extremely picky in their food choices. This makes it difficult to provide them with appropriate meals.
  • Seizures: seizures are not found in most autistic children, but they occur more frequently in autistic children than they do in the non-autistic population.
  • Coordination difficulties: These are not seen in all autistic children but do occur in autistics more frequently than in non-autistic children.
  • Laboratory Abnormalities: There are certain characteristic laboratory abnormalities that are frequently found in children with autism and related disorders.
  1. Persistence of measles virus after the MMR vaccine. Dr. Andrew Wakefield has presented some compelling data in this regard.
  2. Elevated serum copper to zinc ratios: These are seen in 85% or more of autistic children (they average 1.63), according to data accumulated at the Pfeiffer Clinic. The optimal ratio (as seen in non-autistic individuals) is about 1.15.
  3. Elevated Free copper. Dr Walsh at the Pfeiffer Clinic has found elevated free copper to be significantly higher in autistic children than in controls. Free copper is an oxidizing agent and can damage organs and tissues.
  4. Low levels of ceruloplasmin: Ceruloplasmin is a copper-binding enzyme that protects the body from copper’s free-radical attack.
  5. Dysfunctional DPP IV: DPP IV (Dipetidyl Peptidase IV) is an intestinal enzyme that helps break down small protein fractions from foods called peptides. An inability to break down certain peptides from gluten, casein and soy results in the elevation of certain potentially neurotoxic peptides that form in the gut. (like casomorphin, gliadorphin, dermorphin, etc). These in turn are absorbed and may adversely affect neurological and immune function. The same enzyme (DPP IV) also appears on the surface of certain immune cells and serves to signal the cell into activity. When this enzyme is dysfunctional the immune system is compromised.
  6. Antibodies to myelin basic protein. These auto-antibodies are seen in over 80% of autistic individuals. Antibodies to other brain proteins have also been found.
  7. Other Harmful Antibodies: Many children with autism have antibodies against VIP (vasoactive intestinal peptide), a small signaling molecule produced by intestinal cells. VIP has many functions including preventing autoimmunity, and autoimmune reactions as in the aforementioned auto-antibodies to certain brain proteins, are common in autistic children.
  8. IgG food allergies; These are common in all of us and autistic children in particular are often adversely affected by these allergies which may manifest as behavioral abnormalities like ADD or ADHD, as intestinal dysfunctions like irritable bowel, or in other ways.
  9. Metal Allergies
  10. Toxic Metal Overload: This is a controversial topic in conventional medicine, but it really shouldn’t be. The evidence is overwhelming that autistic children harbor much higher levels of toxic metals, like mercury than do non-autistic children. Dr. Bradstreet found mercury levels to be 8 times higher in autistic children than in non-autistic youth. Upwards of 92% of autistic children show abnormally elevated levels of toxic metals.
  11. Gut dysbiosis: Dysbiosis refers to an imbalance in the type and/or amount of gut organisms sufficient to cause harm. Intestinal bacteria, protozoans and yeasts may promote intestinal irritation and leaky gut; they may produce toxic substances and interfere with the proper digestion and assimilation of nutrients from foods. Dysbiosis is usually diagnosed on a comprehensive digestive stool analysis test (CDSA), and further clues to its presence may be discerned on a microbial organic acid test (usually evaluated on a sample of urine or blood).
  12. Metallothionein dysfunction: This will be discussed in the next chapter.
  13. G-protein abnormalities: These will be discussed in the next chapter
  14. Peroxisomal disorders:
  15. Under-methylation: This is seen in approximately 45% of autistic children and, according to Dr William Walsh of the Pfeiffer Treatment Center, is characterized by low levels of the neurotransmitters dopamine, epinephrine and norepinephrine, elevated levels of histamine and a tendency to have depression, oppositional defiant disorder and OCD (obsessive and compulsive traits).

    Methylation refers to the movement of a piece of a molecule called the “methyl group,” which consists of a carbon atom attached to three hydrogen atoms (abbreviated CP). Methylation reactions are vital to our biological processes.

    Under methylation is believed to be due to mutations in at least two enzymes. One of these aberrant enzymes is abbreviated MTHFR (Methylene TetraHydroFolate Reductase). This enzyme functions to donate a methyl group to folic acid, a “B vitamin,” which then becomes 5- methyl tetra hydro folate. The 5-methyl THF then passes the methyl group to vitamin B12 (under the influence of methionine synthase), and by so doing changes the B12 into its active form called methyl cobalamin. Methyl cobalamin then immediately donates its newly acquired methyl group to homocysteine, thereby converting homocysteine into methionine. Hence the methyl group is passed around, like a football, from folic acid to vitamin B12 to homocysteine

    The end result and purpose of all this methyl transferring (the process is called trans methylation) is the synthesis of methionine and the elimination of homocysteine, a potentially dangerous amino acid.

    The synthesis of methylcobalamin, the active form of vitamin B12, also requires adequate amounts of glutathione and SAM (S-adenosyl methionine-also made from methionine). Some children with autism lack that part of the methionine synthase molecule that binds to SAM. This causes problems in the synthesis of methyl cobalamin. Children with autism often have high levels of mercury and other substances which inhibit the production of glutathione and SAM. The result is an additional diminishment in the production of methyl cobalamin. It’s no wonder, therefore, that supplementing the missing methyl cobalamin to autistic children is so often productive.
  16. Over-methylation: It isn’t clear what causes this problem, which occurs in about 15% of autistic children and is characterized, according to Dr. Walsh, by an overabundance of dopamine, epinephrine and nor-epinephrine as well as low blood histamine. He is “absolutely certain …that methionine and/or SAMe usually harm low-histamine (overmethylated persons)..... but are wonderful for high-histamine (undermethylated) persons. The reverse in true for [those with elevated histamine levels] (undermethylated persons), who thrive on methionine, SAMe, Ca and Mg..... but get much worse if they take folates & B-12! which can increase methyl trapping.”

    Conditions that Dr Walsh feels are associated with over-methylation include: anxiety/panic disorders, anxious-depression, hyperactivity, learning disabilities, low motivation, "space cadet" syndrome, paranoid schizophrenia and hallucinations.
  17. Genetic errors in hemoglobin synthesis that lead to “pyrrole disorders.” These are seen in about 6-10% of autistic children and may be diagnosed when elevated levels of kryptopyrroles appear in the urine. This disorder is associated with an increased loss of vitamin B6 and zinc in the urine. The loss of these nutrients disables many enzyme systems including the metallothioneins. The good news is that by supplementing zinc and B6 this problem can be overcome.
  18. Malabsorption: This is a common concomitant of MT dysfunction, dysbiosis and impaired digestive function. It is seen in approximately 85% of autistic children.
  19. Other enzyme errors have been found, including dysfunctions in Catechol O-methyl transferase (COMT). This enzyme transfers a methyl group to the catecholamine hormones: dopamine, epinephrine and norepinephrine. If this function is unsuccessful than imbalances in these neurotransmitter/hormones result.

Read Chapter II

Copyright © 2004 Springboard All rights reserved.
2 pixels
Left tab 436 Pixels Right tab