April was autism awareness month. Autism awareness month existed for decades, but became much more visible this year. I’ll briefly discuss PBS autism coverage, part of the increased media attention to autism, and review our autism information problem. Much of what we hear and read is unbalanced, about autism or about health in general. American public “health literacy” is low. Even “good” or “balanced” health information is often misunderstood or ignored. I discuss the Taubes/Lustig toxic sugar theory as a simplistic half-truth, a bad example for understanding complex disorders such as autism. I’ll discuss the details of the Taubes/Lustig theory in a second diary – those interested only in ASD may skip it.
I’ll include a few words about autistic persons reaching adulthood in the USA today, something that was well handled in the PBS Autism Now series, see aravir’s recent diary,The Looming crisis... when we're 22.
The 1911 Encyclopedia Britannica didn't mention autism, which wasn't described until Kanner's famous 1943 article. It included this paragraph about obesity.
Adiposity or obesity occurs when we have an excessive amount of fat stored in the normal connective-tissue areas of adipose tissue. It may be caused by various conditions, e.g. overnutrition with lack of muscular energy, beer-drinking, castration, lactation, disturbed metabolism, some forms of insanity, and may follow on some fevers.
Obesity is a big problem today. We should be concerned about it; we should reject simplistic explanations and miracle cures. The recent New York Times article by Gary Taubes,Is sugar toxic? is too simplistic. Taubes is correct that modern diets often include excessive sugar (and salt) but one size doesn't fit all. Humans and all animals require a range of glucose, sodium, potassium chloride and many other substances in the blood and extracellular fluids. Too much or too little is harmful. Hyperoxia (breathing oxygen enriched air) is harmful if prolonged; hypoxia (breathing air with reduced oxygen content) is harmful, much more rapidly than breathing high oxygen atmospheres. Too much salt intake can be very harmful but vigorous exercise in the heat makes us need increased salt intake, lest we faint because our body fluids become too dilute.
A. Biochemical individuality: Let's revisit two streams of thought from the 1930s and 1940s.
1. University of Texas Professor Roger Williams, pioneering vitamin researcher, started writing about biochemical individuality. He taught that we’re all truly unique. No single diet, food plan or drug dosing can apply to all or even most people. He studied differences in body chemistry and behavior of inbred lab rats and noted correctly that genetic differences between humans were much greater than those between lab rats. He lampooned our focus on “normal values" meaning the value of blood sodium, glucose, magnesium etc seen in 95% of the apparently healthy population. He urged the study of chemical parameters under different circumstances – fasting, after behavioral stress etc. Nutrition was his focus. His 1956 book, Biochemical Individuality is still available from Amazon and other booksellers. It’s fairly technical but has some good points. Some of his ideas didn’t stick, including genetotrophism, that individual differences in body chemistry may require increased nutrient consumption. Illness would develop on a “standard diet”. Propetology was a related idea (see Williams & Siegel, American Journal of Medicine 31:325, 1961). He urged a mature view of human genetics: we all have genetic liabilities making us vulnerable to certain diseases (propetology means leaning toward); we must manage our environment considering our genetic uniqueness to prevent/delay disease. Williams thought that alcoholism was at least partly due to nutritional deficiency, because lab rats drank less alcohol after vitamin cocktails. This observation didn’t pan out, there is no specific vitamin effect on rat alcohol consumption. Human alcoholism has strong genetic components, but no evidence for a nutritional basis has been found. Its genetic basis remains poorly understood, just as the individual genetic factors in autism and schizophrenia remain poorly understood. These ideas influenced Linus Pauling who spoke of Orthomolecular Psychiatry in the 1960s. Orthomolecular medicine overextended useful concepts without quality control.
2. Chicago Pediatrician Clara Davis studied dietary self-selection by infants and young children from 1928-1942. Her work was widely interpreted to mean that children instinctively select and consume a well-balanced diet, given enough choices. Her own interpretation was more conservative. She studied small numbers of infants and children, almost all white, many somewhat malnourished on entering the study, continuing for over 4 years in some cases. They were given a tray of foods and chose how much to eat of each one, foods were rotated between meals. Only unprocessed and unsweetened foods were offered, no butter, cream or cheese. The children did very well on this regimen, choosing to eat more than the recommended daily allowance for all essential nutrients except iron. Their growth improved and they were very healthy, with improved bone density. They chose more milk and eggs than Davis had expected, although there was individual variation. Some children had eating jags where they ate mostly one or two foods for weeks. Davis stressed that her study was artificial because it excluded sweetened and processed foods. Individuals chose different diets- the average diet chosen was 17% protein, 35% fat and 48% carbohydrate and “most children chose somewhat alkaline diets”. Later studies showed that children overate if given sweetened chocolate milk with those same food choices and that older children were more influenced by what their neighbors ate. Humans innately prefer sweet foods. We are easily influenced by advertising.
B. Fear factor: What’s the beef about sugar?
Taubes bases much on his argument on Professor Robert Lustig’s YouTube lecture. Lustig hammers one point: fructose is a toxin, ordinary sugar is half fructose, and so you should avoid it. That’s correct up to a point. My next diary has detailed analysis of the Taubes/Lustig theory. Notice the fear factor- they play the cancer card, which is not justified. Age adjusted cancer incidence has not increased in the last 40 years when sugar consumption has greatly increased (when you correct for better diagnosis- PSA tests, high sensitivity mammography, MRIs, etc), as we’ll see in the next diary. Fruit juices can be health-promoting because of polyphenols which improve vascular function- for some, sugar offsets this benefit, for others, it does not. It’s wrong to condemn all fruit juices for everyone. We must individualize. Fruit juice drinks on the other hand, like sodas, are mostly flavored water sold to a gullible public.
Is there an autism Taubes? Not really. There is major fear mongering; there are people who want to take advantage of families with autistic children selling supplements, chelation, hyperbaric oxygen treatments, Lupron, etc. They have little in common except the basic premise “It’s the modern world, stupid”.
C. The Yale Autism Seminar is the best single source of information about autism.
It’s free here. There are 12 lectures, about 12 hours to view. There are single lectures on behavioral treatment, drug treatments, and problems of families with autism. The seminar doesn’t answer all the questions of ASD families; it can be a skeleton to build better autism information for doctors and parents.
About 100 peer reviewed autism papers appear each month; even more on obesity. It’s hard to keep up with this and put new claims in perspective. Autism existed before Leo Kanner’s 1943 article describing 11 children (8 boys and 3 girls). Kanner stressed both the similarities and differences from schizophrenia. All cases had major problems with social relationships, they mostly wanted to be left alone; hence he used Bleuler’s word autism, from the Greek root auto-. This social isolation, the obsessive behavior and stereotypies of his patients, and their echolalia (repeating back what is said to them) all brought up schizophrenia. But his cases were different- he believed that every one was aloof from birth or the first weeks of life. None had what we call regressive autism today. All insisted on sameness- no changes in their world. Three never spoke, five had large heads, several were late walkers, and one had two convulsions. This was not schizophrenia; cases of childhood schizophrenia who were reportedly normal at age one or two. Kanner was impressed by the excellent general health of his 11 patients and their ability to concentrate on certain tasks, they could be effective in ways that schizophrenics usually weren’t.
Kanner was misled by the concentration of scientists and University people among his parents. Only University people knew about child psychiatry in that era, without TV or Internet. Only people of means could go out of state to consult a child psychiatrist. His conclusion was that autistic kids were unable from birth to form meaningful social relationships; he said his parents were not warm-hearted;. An influential 1956 review by Kanner and his student Leon Eisenberg again stressed the differences between autism, schizophrenia and mental retardation. They now had cases who had reportedly been normal or nearly normal in the first year of life and declined in language and social skills in the second year of life, what we call regressive autism. They said, "There appears to be some way in which the children are different from the beginning of the extrauterine existence....There is little likelihood that a single etiologic agent is solely responsible for the pathology in behavior…” They commented on “emotional refrigeration” in some autistic families. The famous concept that autism was due to bad parenting and “refrigerator mothers” came from Bruno Bettelheim in Chicago, not Kanner as Wikipedia erroneously reports. So science took several steps forward, mixed with mistakes and lurches, by 1960. Psychiatrists still confused autism and childhood schizophrenia, as explained by Volkmar in the first Yale lecture.
Autism theory and teaching slowly lurch toward more complete understanding. Fortunately, as Volkmar stressed in his first lecture, outcomes today are better than they were 25 years ago, even though we still lack a mature theory of the various autisms and related disorders. However, the diagnosis of autism or pervasive developmental disorder (this includes 5 categories: Rett syndrome, Asperger syndrome, childhood disintegrative disorder, classical autism, autism NOS (not otherwise specified- i.e. enough autistic features for diagnosis but not fitting into any of the other four categories) changed markedly, especially with DSM-III in 1980. For example, Dr. Lorna Wing’s 1978 review article said “About 55% of autistic children are severely mentally retarded”. That’s what she saw in England and what I saw in Boston in the 1970s. Today, I see many more kids with autism but only 20% are severely retarded. The category has been expanded, most of the increase has been in the group called PDD, NOS.
A comprehensive autism information source must include Dr. Bernard Rimland.
Doctor Rimland already had a Ph.D. in psychology when his autistic son Mark was born in 1956. Rimland became interested in autism and convinced that it was a physical disease. He helped to found Defeat Autism Now! And the Autism Society of America. His 1964 book, Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior, is a landmark. It was the most detailed argument for autism as a physical brain disorder, and it included a foreword by Leo Kanner himself, who suspected that Rimland was on the right track. Rimland went wrong in several ways, but his focus on brain disease was right. We recognize the autisms as neurological disorders today. Emotionally abnormal families and orphanages may produce serious mental illness, but not autism. Rimland’s mistakes included his promotion of orthomolecular psychiatry and vitamin treatment of autism and his confidence that immunizations were a major cause of autism well before Andrew Wakefield’s deceitful 1998 Lancet paper. We know thimerosal is not a significant cause of autism, because we know what mercury poisoning does to the developing human brain. That came from the famous Japanese Minamata Bay cases. The Chisso Corporation dumped tons of mercury into the bay from 1932 to 1968. The Japanese government finally recognized the problem as mercury poisoning in 1968, but it took continued litigation until 1973 to establish that the company was negligent and to order compensation to all surviving and deceased patients. This was a dramatic story- many locals supported the company because they feared loss of jobs. The famous American photographer W. Eugene Smith, one of my heroes, lived for a time in Minamata Bay and took up the cause. Thugs beat him – whether they were paid by the company or local conservatives resentful of foreigners helping lawyers is still debated. He continued his work; his searing black and white photographs touch us in ways that color photographs rarely can. "Tomoko Uemura in Her Bath" and "Tomoko Outside Bath" are classics with contrasting light and deep shadows highlighting the bond between mother and disabled child.
The neuropathology of Minamata Disease is well known. it's not like the changes found in autistic brains at autopsy or in MRI scans today. Many autistic children have abnormal scans; the changes may be evident only when groups of autistic children are compared with groups of normal controls- one can not prove or exclude the diagnosis of autism with brain scans. Since autism is best understood as a disorder of circuits, pictures of brain volume are of limited value. Affected Minamata children have small brains; many (not all) of the autistic children seen today have big brains. About 15% have small brains; their pathology also differs from that of Minamata disease. We have information on children growing up in places like the Seychelles where excessive fish consumption has produced neurological abnormalities and high mercury content in some children. These children have motor impairments without autism. In fact, none of our classic toxins- mercury, cadmium or other heavy metals, the pesticides that have been studied produce the overgrowth seen in many autistic brains. We know at least 25 genes that may produce brain overgrowth if mutated. The most commonly found are fragile X, PTEN and the two tuberous sclerosis genes, but these mutations are found in only a few autistic patients, 10% at most. A few of the genetic abnormalities found in autism are also seen in schizophrenics, as we’ll see.
Rimland was wrong about secretin, vitamin therapy of autism and especially about vaccines, he was prone to over simplify. He was energetic and influential; he helped autism parents. We might speak of Rimland light, a theory that various genetic predispositions (a la Williams) and environmental or infectious insults combine to cause most or even all autisms. Many claims fit this template. A recent one is that unusual intestinal bacteria (would have to begin in the mother) plus unspecified genetic vulnerability cause autism. This is just a claim at the present time.
D. The best science is experimental science. That’s why economics and sociology have such poor track records.
We can’t do long term dietary experiments in humans, we can’t test new viruses by injecting them into humans. We can show that drug treatment of hypertension improves long term outcomes compared to untreated controls, that immunotherapy improves outcomes of Guillain-Barre syndrome and that clotbusters improve outcomes in certain kinds of strokes. We haven’t proved that dietary fiber decreases the risk of colorectal cancer; we’d have to randomize people to high, medium and no fiber diets and keep them on those diets for many years. As you learn in college, correlation is not causation.
1. What about the Hispanic autism deficit? Is it even true? If you Google California autism clusters, you will see clusters of high incidence in several affluent California cities. They are areas of highly educated, high income, mostly white families. This differs from many disorders, like schizophrenia and obesity that are most common among the poor and underprivileged. In our Southwestern states current autism diagnoses in Hispanics are about 2/3 of the rates for whites, blacks and Asians (which are fairly similar). This may be explained by lack of access to care, but we aren’t sure. My Hispanic patients have greater pollution exposure than whites, they have more asthma, more abnormal births, etc. A simple minded Rimland light approach would predict higher rates of autism. If Hispanics are “protected from autism”, we need to know how.
2. Short term responses may be misleading and nonspecific. Some children with mental retardation and difficult behavior (usually not autistic) have gotten injections of ACTH and other hormones and intravenous immunoglobulin infusions (IVIG). Many parents swore by these treatments, which were never supported by controlled scientific studies. I got involved in this when my hospital wanted to ban such treatments. Reviewing the records and talking with families, there were short term changes- often eating and sleeping were different for a time as we would expect with anything that jolted the hypothalamic-pituitary-adrenal stress response system. There was no evidence for objective long term improvement. Vitamin B6 (pyridoxine) produces short term changes in many parameters- it has been a popular treatment for epilepsy in some countries. This is just one example. Hyperoxia may change sleep, appetite, etc but it doesn’t change core autistic defects. Prolonged hyperoxia kills lung cells and shuts off neurogenesis in the brain.
3. Sensory responses in brain disease The brain receives information about the world via sensations and programs responses. All brain diseases affect sensory processing, but in many different ways. Schizophrenia and Tourette syndrome are both associated with abnormalities of Prepulse inhibition or startle responses. Both involve dysfunction of frontostriatal networks, but they are quite different. Prepulse inhibition is also abnormal in Huntington’s Disease. Sensory changes are common in migraine. Sensory changes are not unique to autism.
4. Humans need to do something meaningful, something that other people value. Staying home, with or without disability payments is not meaningful. Many autistic and schizophrenic adults have talents and can do useful work. However, they need job coaches and support, to help them accommodate to work. This support costs money. Even those too impaired to work benefit from regular outings. These cost money. The percentage of adults and children receiving SSI and SSDI for ‘psychiatric disability’ (this would include autism) increased substantially in the 1990s. Money helps, but nonfinancial community support is also important.
Mental illness is stigmatized. All major mental illness has physical roots and structural brain abnormalities, often compounded by psychosocial factors. We don’t do enough for handicapped people, including retarded adults, we know that drug treatment of acute psychosis helps, but we don’t know that keeping such patients on these drugs for many years improves their outcomes. The dopamine theory of schizophrenia is a half-truth; dopamine receptor blockers may stop hallucinations but they don't normalize schizophrenics. One percent of our population has schizophrenia. They need better care. It’s shameful that so many become homeless. Better care for adult autism and schizophrenia may save money in the long term; it requires more money in the short term. More funding for autism and schizophrenia must not come out of education budgets for normal children. It should come from reduced subsidies to Big Ag (I agree with Lustig that corn byproducts are used far too much), reduced military spending and adventurism, control of medical costs (possible but difficult) and some increase in taxes/reduction in tax loopholes. There's no simple one size fits all cure for autism, obesity or our budget problems.
Health issues go beyond mental health. Obesity implies imbalance between food intake and energy expenditure. There are many ways to get there. My wife and I have consumed the same diet for 50 years; the one who ate the least gained weight, the other didn’t. You can’t reduce obesity to laziness. Evolution prepared humanity for food scarcity. Autistic disorders involve poor coordination between brain modules, imbalances between different brain functions. There is no single brain site for autism. I think that most of the increase in autism diagnosis is because patients that I would have called ADD plus or minus mild mental retardation are now called autism. There may be a modest true increase, but it’s misleading to talk about epidemics. Until we know if the increased autism incidence is due to new disease causing factors and until we know whether or not Hispanics have less autism, we must be humble and willing to discuss the ideas of people like Bernard Rimland with families. We must not exaggerate autism results in small numbers of patients from a single country. Autism and obesity have multiple causes. Trans-national comparisons are useful but difficult to do.
There are no completely normal humans. I might hallucinate or become self destructive if put into solitary confinement solitary confinement breaks you down or other toxic environments such as the Afghan girl’s environment in the movie Osama inhuman treatment of women and girls. Cannabis can be harmful and provoke schizophrenia in genetically disposed young people see here; it can also benefit older people with certain problems cannabis for pain. The cannabis lobby is no more objective than the corn and sugar lobbies. Evolution didn’t prepare us to live in crowded cities among strangers or to sit still in school. It predisposed us to swallow the word of group leaders and distrust other groups Genetics of original sin, big problem. We all make mistakes- Kanner did, so did Rimland and more thoughtful investigators like Michael Rutter, another one of my heroes, Part of Rutter's lecture. Science builds on verifiable insights, constructing something superior to the work of any one individual. However, the process is often slow and erratic.
I have no autism secrets or autism cure. I'll mention my reservations about paleolithic diets in my next diary. I believe that we must square the circle and consider autism as part of a galaxy of disorders that includes ADHD, schizophrenia and bipolar disorders groups of synaptic/circuit disorders. People with the so-called DiGeorge chromosome 22 deletion DiGeorge summary may have autism but more often develop schizophrenia. I have two patients with autism (small heads) and this deletion. One has a cousin with the deletion and “ordinary mental retardation”. Until we understand why some people with the deletion develop autism, others mental retardation, others schizophrenia and others remain mentally “normal” we don’t understand autism or schizophrenia. The amount of DNA deleted is relevant but is not the whole story. Teachers and healthcare providers have trouble explaining autism and schizophrenia to families. Is it surprising that families often turn to simplistic and mistaken explanations?