Autistic Disorder 52 Years Later: Some Common Sense Conclusions

Darold Treffert MD

I met my first autistic child in 1955, when I was a second year medical student. That perplexing condition engaged and intrigued me then, and engages and intrigues me still, 52 years later.

While in medical school, I also had the good fortune of being able to learn more about early infantile autism from Dr. Leo Kanner, who first described that condition 12 years earlier, in 1943. Dr. Kanner was a visiting professor at my medical school for a semester. I, of course, met other children with autism during my psychiatry residency. I remember one girl vividly because she constantly and mercilessly would bang her head on a table or desk, and the terrible thud would resonate throughout the entire building.

When I completed my residency in 1962, I was given the responsibility of setting up a Children’s Unit at Winnebago Mental Health Institute (WMHI)Wisconsin. We gathered 40 youngsters under 18 from throughout the hospital, and placed them on this newly created unit. Most of the children were autistic, severely so, requiring inpatient care. At the time the unit opened, the cruel “refrigerator mother” theory was circling about. I noted, though, that the mothers of the children on our unit were as warm and caring as any other mother. So I set about doing an Epidemiology of Infantile Autism study (1970) to try to replicate, or refute, Kanner’s findings regarding parental profiles, and to look at the incidence and other characteristics of the disorder in a more rural setting compared to the more metropolitan area from which Dr. Kanner drew his referrals. I was able to locate 280 unduplicated cases of “Childhood Schizophrenia” (which was the diagnosis used for autistic disorder at that time) in Wisconsin in children age 12 or under. There was no official Autistic Disorder diagnosis at that time; that diagnosis did not appear in the Diagnostic and Statistical Manuel (DSM-III) until 1980.

I found the prevalence of Childhood Schizophrenia (which today would be called Autistic Disorder) to be 3.1/10,000, which was about the same figure as in studies in other countries at that time. But in my sample only 25% were “classic Kanner early infantile autism” (Group A), making that form of autism very rare indeed. Interestingly, and somewhat to my surprise, educational level of both parents of Group A children was, as with Kanner’s patients, higher than those children in Group B (clear organicity with autistic symptoms) or Group C (variant autism, which would probably be classified as PDD/NOS today). That paper was presented an Annual Meeting of the American Psychiatric Association and the discussant was Dr. Bernard Rimland, with whom I developed a long-term friendship and correspondence.

It was also on that Children’s Unit, in 1955, that I met my first savant, a condition that I have continued to follow and research to the present day. Since approximately 50% of savants are autistic, and since savant abilities occur in as many as 10% of autistic persons, I have followed autism research efforts and findings very closely through the years, as an important part of my savant syndrome research. And, of course, I have cared for and followed a number of patients with autistic disorder in my day -o-day clinical practice. I recently had a very interesting and encouraging 44-year follow-up visit with the first savant I met on the unit in 1962.

It is from all of those vantage points, over this past 52 years, that I have made observations, and some conclusions, of my own about autistic disorder in terms of its forms, frequency, causes, course, treatment and outcome. This paper summarizes those conclusions at this point in time. They are what I call “common sense” conclusions—what we do know about the disorder—in the hopes it might provide some clarity in an arena filled these days with considerable speculation, and even polarization. There is still much more we need to learn about this disorder, but taking stock of where we are at present might be a good way station as we proceed further and decide what might be the most fruitful routes to take.

Autism Is Not a New Disorder

Autistic Disorder did not begin with Dr. Leo Kanner’s (1943) first description of it. It has existed as long as other developmental disabilities have existed, dating back, no doubt, to earliest times. Dr. Kanner was a very careful observer/clinician. He noted certain elements in common in some of the patients he was seeing in his clinical practice and was astute enough to separate them out into a condition he named Early Infantile Autism as a disorder separate from other developmental disabilities. But the disorder did not begin then.

Uta Frith (1989) and others have examined accounts of the “Wild Boy of Aveyron” and the Russian “Holy Fools” and have speculated that perhaps those were instances of Autistic Disorder in an earlier time. Others have speculated that some of the very early cave drawings were in fact “savant” art carried out by persons with autistic or other related disorders many centuries ago. I haven’t examined those accounts and documents closely enough to draw my own firm conclusions about those instances.

But the writings of Dr. J. Langdon Down (1887) do provide what I consider clear evidence of Autistic Disorder in his descriptions of what he called, interestingly, a “developmental” form of mental retardation. (Autism is included now among the “developmental disorders” in modern day terminology). Dr. Down separated out these “developmental” mental retardation patients from those he classified as “congenital” or “accidental” mental retardation. His use of terms such as “world of their own,” “self-absorbed,” “automatic movements of the fingers or rhythmical movements of the body,” “not entertained other than in his dreamland,” “sparkling eyes with features when in repose leading one to augur only brightness and intelligence,” etc. describe clearly what would in present day classification be Autistic Disorder. Equally as astutely, Down distinguishes between what in today’s terminology would be Early Onset Autism and Late Onset Autism. All of this is described in greater detail in the “Dr. Down and ‘Developmental Disorders” article (Treffert; 2006) in the Journal of Autism and Developmental Disorders.

Autism Is a Group of Disorders, Not a Single Disorder; There Is Not a ‘Single’ Cause

“Autism” is not one disorder, with a singular cause, any more than “mental retardation” is one disorder with a singular cause. Instead, autism is a group of conditions with shared symptoms and a final clinical path we call Autistic Disorder in the same manner that “mental retardation” is a group of conditions with shared symptoms and a final common clinical path, and picture, we call Mental Retardation. The same can be said of Schizophrenia. In fact, when Bleuler first described Schizophrenia he, correctly in my view, termed it the “group of schizophrenias.” Likewise “depression” is a condition with shared symptoms but diverse subgroups with varying causes.

Perhaps the clearest examples of different forms of “autism,” with different clinical courses in terms of onset and accompanying symptoms, are the Early Onset and Late Onset forms of Autistic Disorder that Down described a century ago, and are now seen regularly in clinical practice.

On the Children’s Unit at WMHI, we had both forms of Autistic Disorder. In some children, the clinical signs and symptoms of autism had been present from birth. In others, the child was quite normal (neurotypical) at birth and reached developmental milestones, including language acquisition at the usual times and in the usual manner. But then, at age 2, 3 or 4, a conspicuous regressive process began robbing the child of all of that natural progress. Interestingly, in these late onset cases the parents all had some sentinel event that, in their mind, accounted for the cause of this dreadful regressive pattern: “ever since he fell off the pier and nearly drowned;” “the time he got trapped in the silo;” or “ever since he went into the hospital to have his tonsils removed.”

The point is that there is a natural tendency on the part of parents to seek out and blame some event or procedure for the onset of such startling regression in a child who has otherwise been developing normally. Dr. Down called that regression the “loss of wonted brightness.” Dr. Down attributed this regression to the “second dentition.” Obviously, in seeking causes, one has to separate out temporal relationship to causal relationship.

In my view, Autistic Disorder is a group of conditions that share a common clinical path and outcome we call “autism.” But this group of conditions, while sharing a final common path, have different causes, just as mental retardation, for example, has multiple causes including genetic, metabolic, structural and traumatic to name a few. It is only by very carefully sorting Autistic Disorder into its different subgroups that the different causes will become evident. A good place to begin is with looking differentially at early onset and late onset autism.

There Is a Rise in Incidence of Autism, But It Is Not an ‘Epidemic’

When I did my epidemiology study of infantile autism (Treffert, 1970), I found the prevalence of autism (at that time called Childhood Schizophrenia) to be 3.1 cases per 10,000 children in Wisconsin age 12 and under. Others had reported a prevalence of autism to be in the range of 4.5/10,000 (about 1 per 2222 children). The most frequently quoted prevalence figure now is the 2007 Center for Disease Control and Prevention (CDC) figure of 1 per 150.

But in assessing the validity of that estimate, one has to look closely at the methodology to reach that figure. There are some problems. First, that study confined itself just to 8-year-old children, not children ages 0 to 12, for example. Second, using methodology from earlier studies, the “majority” of the identified cases came from special education services (as opposed to medical records, for example) and the “diagnoses” were made by “qualified professionals” that included special education teachers, psychologists, social workers, speech and language specialists, learning specialists, developmental pediatricians, pediatric neurologists and child psychiatrists, to name only some of these professionals. Third, the study measured “Autistic Spectrum Disorders (ASD),” which includes not just autistic disorder but PPD/NOS and Asperger’s Disorder, for example, as well. Dr. Marshalyn Yeargin-Allsopp, chief of CDC’s autism program, stated about these figures: “It is extremely difficult to accurately estimate the number of children who have ASD. Medical records often to not provide such information, and identification is often made by schools and education specialists. Fourth, the CDC press release announcing these figures quoted Dr. Gerberding, CDC Director thus: “Our estimates are becoming better and more constant, though we can’t tell if there is a true increase in ASDs or if the changes are the result of our better studies.”

Thus the CDC, in releasing this oft-quoted figure of 1 in 150 children, expressed some caveats: it really measures primarily children receiving educational services, as opposed to clinical services; that the diagnoses were made by a very diverse group of professionals perhaps using different definitions; and it was impossible to tell from the study if there was an actual increase in cases, or just better reporting of existing cases.

Gernsbacher, Dawson and Goldsmith (2006) also explore the reported increase in autism and document in detail three reasons “not to believe” such an “autism epidemic” does exist: (1) continual expansion of diagnostic criteria since the first notation of the disorder in DSM-III in 1980; (2) uncritical acceptance of a flawed California-based study; and (3) uncritical acceptance of “child count” data reported annually by the U. S. Department of Education. This paper presents an unusually detailed chronology of how the diagnostic criteria for autistic disorder expanded to autistic spectrum disorder and how the criteria used to make a diagnosis of “autism” have both expanded and been diluted at the same time.

But even allowing that expansion of diagnostic criteria has contributed to the apparent increase in autism, there does appear to be real increase in incidence of the disorder as well. But not at an “epidemic” level with all that such a term implies. Family physicians and pediatricians who rarely saw children with autism in earlier years now do have several in their practice, or at least as reported to me. And special education classrooms have seen increased numbers of children with autistic disorder, narrowly defined, coming into those classrooms. Thus it seems to me, having observed this entity for over 50 years from several vantage points, that yes, there is an increase in actual incidence of the disorder, but we will need to have more rigorous studies, using uniform and carefully defined clinical (not just educational) criteria to sort out the nature, source and size of that increase.

Other ‘Epidemics’ and ‘Diseases du Jour’

Autism is not the only “epidemic” facing children, according to some. An article by Olfson and colleagues (2007) reported a 40-fold increase in bipolar disorder among children and adolescents in this past decade. These estimates were based on data from an annual, nationwide survey of visits to doctors’ offices over a one-week period conducted by the National Ambulatory Medical Care Survey (NAMCS). Data showed the number of office visits resulting in a diagnosis of bipolar disorder for youths ages 19 and under was 25 out of 100,000 such persons in 1994-1995, but it had jumped to 1003 out of 100,000 such office visits in 2002-2003. These researchers, though, point out, “It is likely that this impressive increase reflects a recent tendency to over-diagnose bipolar disorder in young people, a correction of historical under recognition, or a combination of both. Clearly we need to learn more about what criteria physicians in the community are actually using to diagnose bipolar disorder in children and adolescents and how physicians are arriving at decisions concerning clinical management.”

Ditto for Autistic Disorder

The diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) has experienced the same swelling of numbers. In An ADHA Primer, Lisa Weyandt discusses in detail the incidence and prevalence data for ADHA in the United States and other countries, and whether a marked increase in that diagnosis in children and adolescents is apparent or real. She states: “The question of whether the incidence of ADHS is on the rise is difficult to assess for several reasons.” She goes on to say that the rise could be due to “recent changes in diagnostic criteria;” better trained clinicians who now recognize the disorder; or increased public awareness of the disorder resulting in more referrals for treatment. She concludes “it is uncertain whether the incidence of ADHD is rising or whether it is being more accurately diagnosed.” Sounds familiar.

Weyandt’s book cites studies on the prevalence of ADHD in a national sample of U.S. children comparable to the office visits resulting in a bipolar disorder noted above. The number of such visits that resulted in a formal diagnosis of ADHD in children 8 to 15 years of age rose from 950,000 in 1990, to 2 million in 1995 and 3 million in 1998. Froehlich (2007) and her research team did a telephone survey of 3,082 caregivers of 8- to 15-year-old children in the National Health and Nutrition Examination Survey and found that 8.7% met the standard diagnostic criteria for ADHD (almost 9 per 100 children in that age group).

That trend for disease du jour (not in any way limited to mental disorders) was driven home to me when I saw a medical chart with a diagnosis of bipolar disorder in an 18-month-old child! How one can separate out normal variation in infant behavior from bipolar disorder in an 18 month old certainly goes beyond my diagnostic acumen, and, for me, strains credulity and even common sense.

What has happened with autism, bipolar disorder and ADHD, it appears to me, is that the criteria have been expanded, and that expansion creates, at least in some measure, an apparent increase rather than an actual increase. An analogous situation in general medicine is occurring with “hypertension” as a disorder. Years ago there was a general rule that an acceptable systolic blood pressure reading could be obtained by adding your age to 100. So a 20 year old should have an upper limit reading of 120; a 40 year old an upper limit reading of 140; and a 60 year old an upper limit reading of 160. That “rule” was replaced then by a fairly well-accepted standard in the medical community that the upper limits of normotensive readings were 140/90; any levels above that were considered hypertension. In more recent years, those levels have been lowered downward as well, with closer attention not only to diastolic blood pressure but systolic levels as well. In so doing, more and more persons are being defined as having “hypertension.”

Thus a change in criteria will, just by definition, bring more persons into any disease category, and unless there is some way to retrospectively examine populations, using those newly expanded criteria, there is no reliable way to compare the actual incidence and prevalence of any disorder meaningfully.

What Causes Autistic Disorder?

There have been a number of possibilities proposed as the cause (etiology) of autistic disorder. When I began my journey with autistic disorder in the 50s and 60s, there was the “refrigerator mother” theory, which, appropriately and thankfully, was discredited quite promptly. I don’t know of anyone who seriously at present proposes a psychological or emotional basis for autistic disorder. It is, appropriately, generally accepted that autistic disorder is a physical condition with an organic basis.

Dr. Down classified what would now be termed Autistic Disorder as a form of Mental Retardation. While it is true many autistic persons have IQs measured below 70 (as high as 75%), some of that is “functional retardation” and in fact some autistic persons have very high IQ readings in specific sub-tests or even overall. Thus Autistic Disorder is a condition separate from Mental Retardation and all the DSM manuals have, appropriately, made that distinction.

The theories proposed to account for this physical, organic disorder are several: genetic (specific chromosomal abnormalities such as seen in Down’s, William’s or Prader Willi syndromes, for example, or a more general inherited vulnerability in the same way as one might inherit a propensity to develop diabetes under certain conditions), environmental (exposure to heavy metals including thimerosal, bisphenol A, PBCs, or other toxic products either pre- or post-natally), immunologic (exaggerated immune response to ‘trigger’ agents including immunizations), metabolic (dietary intolerances equivalent to phenylketonuria as seen in mental retardation, for example), or neurologic (Laudua-Keffler seizure disorder and related conditions).

The beginning of wisdom is to call things by their right names. From my vantage point, as I discussed above, Autistic Disorder is not a single disorder. It is a group of disorders and as such there will not be a single cause (or cure) of autistic disorder any more that there is a single cause (or cure) of mental retardation, for example. So the search for causes will require Autistic Disorder to be broken down—carefully and precisely—into its subgroups. One way to start would be to compare “classic” cases of early onset (at birth) autism with “classic” cases of late onset autism, looking at all the prenatal, perinatal and postnatal variables that one can think of between these two groups which, I am convinced, are different processes with a final common path we call autism. Some of that work is underway, but in my view there is sufficient imprecision in diagnosis on the front end of the study that the final conclusions will be blurred.

One source of that “blurring” is the failure to distinguish between “autism” as a disorder, and “autism” as symptoms superimposed on other underlying disorders. For example, a number of savants that I have studied have “autistic” symptoms (hand gestures, Echolalia, rituals) superimposed on basic underlying brain damage from a variety of causes. They are not autistic, and they are not autistic savants. On the savant syndrome website, I discuss a form of hyperlexia in which some hyperlexic children, for a period of time, have numerous autistic features, or behaviors, or symptoms that fade over time as the child grows older. His or her “autism” disappears over time. Yet many of these children are diagnosed as Autistic Disorder. They do not have autistic disorder.

Therefore any serious research effort to find the “cause” of autism will need to be meticulous about diagnostic criteria, finally separating “autism” into its subgroups with not one, but various, “causes,” comparing and contrasting these subgroups to delineate specific etiologies.

The Vaccine Question

The most vigorous discussion at present surrounds the role of vaccines, and especially thimerosal, in causing autism. A number of persons and groups propose such a causative link, particularly regarding late onset autism. Space doesn’t allow a full discussion of that controversy here. However the most recent large-scale federal study by Thompson and colleagues (2007) concluded that thimerosal use in vaccines does not raise the risk of “neurological problems” in children. However that study did not assess the link between thimerosal and autism specifically; that separate study will be completed in one year. But a number of other earlier studies by other investigators that have failed to show a clear link between thimerosal and autism. Some other parents and groups vigorously disagree.

Several factors sway me away from the thimerosal link to autism. First, I saw cases of late onset autism well before there was an acceleration of vaccine schedules to their present levels. And in each of those cases, the parents pointed toward some special event that in their mind was responsible for the onset of the regression. A full century earlier Dr. Down described cases of late onset autism well before there were any vaccination schedules at all. As I pointed out above, he ascribed that regression, temporally at least, to the “second dentition.” As a minimum, then, one would have to acknowledge that such regressive autism can occur with some trigger other than thimerosal; it cannot be the sole cause. Beyond that, now that thimerosal has been removed from almost all childhood vaccines (except flu vaccine) if thimerosal was linked to autism in a direct manner, one should see the incidence of autism going down quite dramatically now that thimerosal no longer is present in vaccines. That does not appear to be happening in this country or other countries that either have removed thimerosal from vaccines, or never used it in vaccines as all. Granted, it may take some time to fully assess that data.

The full-scale federal study specifically looking at the autism/thimerasol link due in this next year should provide a more definitive answer to that question, although there are those who will not trust any government-funded or CDC-allied study. They feel the government and drug industries have a vested monetary interest in not acknowledging any link between thimerosal and autism. Some implicate the “medical profession” as well in a conspiracy cover-up. I can’t speak for the government or the drug industry, but I can say that if I, or my medical colleagues, did see a clear, indisputable link between thimerosal (or any harmful product) and autism we would be in the forefront to raise awareness of any such a link and advocate for a prompt remedy. That happened when it was discovered excess oxygen was producing the blindness from the retinopathy of prematurity; when birth defects were coming from thalidomide; and, very recently, when black box warnings were attached to certain antidepressants in children and adolescents because of concerns about suicide in some such patients. There is no reason why I, or any of my colleagues, would sit on some important information about adverse effects of any product or procedure when those are clearly present and proven.

Also pertinent, though, in the possible vaccine/autism link is the immunologic theory regarding aggressive vaccination schedules and autism. These theories hold that it is not the thimerosal that produces a link between vaccines and autism, but rather it is the result of an overwhelmed immune system in some children that is the problem. There is an effort now to identify more ‘never vaccinated’ child populations in the United States and/or in other countries and such a sample, if large enough, should provide some answers to the overall vaccine/autism link, if it exists, with or without thimerosal.

Such studies should be carefully, and promptly, carried out, because the fall-out from such causative speculation leads to decisions all parents have to make regarding immunizations for their children, with all the broad implications that immunization decisions by parents have on public health of all children more generally. Roush (2007) and colleagues point out that there has been a 92% decline in cases and a 99% or greater decline in deaths due to diseases prevented by vaccines recommended before 1980 for diphtheria, mumps, pertussis and tetanus. Smallpox has been eradicated worldwide. Declines were 80% or greater for cases of most vaccine-preventable diseases targeted since 1980 including hepatitis A, hepatitis Hib and varicella. Declines in cases and deaths of invasive S. pneumoniae were 34% and 25%. They conclude: “The number of cases of most vaccine-preventable diseases is at an all time low; hospitalizations and deaths have also shown striking decreases.”

The Environmental Question

There is some evidence that birth defects, neural defects, behavioral abnormalities and congenital defects in general are rising among newborn children overall, and autism is simply one of those congenital conditions. It is postulated that this is possibly due to a whole host of toxic products to which pregnant women, and growing children, and indeed all of us, are exposed to on a daily basis. It is speculated that for some children the damage occurs to their developing central nervous system in utero. Others propose that toxic products harm the developing central nervous system in the growing infant and child, particularly those infants in which there is some sort of genetic vulnerability not yet fully identified. Toxic agents include heavy metals, particularly mercury, in an increasingly polluted environment that includes air, water, and food. Such increasing environmental pollution, it is argued, accounts for the increasing incidence of a number of birth defects overall, including neural and behavioral abnormalities, including autistic disorder.

I personally am persuaded that to the extent there is a real increase in autism, this environmental interaction may be responsible. It seems unlikely that there would be any genetic “explosion” of any disorder, including autism, over a relatively short period of time. Genetic (inherited) disorders do not expand in “epidemic” proportions or at “epidemic” speed. But some environmental pollutants could have an adverse effect on a developing central nervous system whether in utero or post-natally. That is where I personally would like to see more research emphasis because there is ample precedent for past links between harmful agents in the environment such as lead, CO, radium and a host of other environmental products, including certain drugs. Excess oxygen in premature infants did contribute to blindness for the retinopathy of prematurity, for example.

One product I personally think should have closer scrutiny with respect to a possible link to autism is Bisphenol-A (BPA). BPA is all around us—canned food containers, baby bottles, bottled water and a whole variety of household products. The use of that product in baby bottles, particularly, has led to the manufacture now of some BPA-free baby bottles. But consumption of bottled water by all age groups has increased exponentially, relatively recently. In August, 2007, experts from the U.S. Center for the evaluation of Risks to Human Reproduction (CERHR), part of the National Toxicology Program, unanimously concluded that exposure to BPA presents some risk to human development and reproduction. The panel had the option, with respect to certain risks, to quantify them as “negligible concern,” “minimal concern,” “some concern” and then “serious concern.” The panel found that there was “some concern” that exposure to BPA causes neural and behavioral effects to the fetus, compared to “minimal concern,” for example that BPA causes effects to the fetal prostate or that exposure causes and acceleration of puberty.

Biphenol-A is actually a female sex hormone, estradiol. Industry believes the exposure to BPA, while certainly widespread, is in such minimal doses in humans as to not post any hazard at all. But the sex predilection for males in autism (4:1), coupled with some other observations in animals relative to head size and head growth, and that correlate with observations of head size in autism, seems worthy of further exploration. Some of the recent epigenetic research with identical twins, and animal studies provide some very interesting mechanisms as to how compounds such as BPA could impact on DNA and cause deformities and other genetic aberrations.

I am not singling out nor declaring that BPA is a demonstrated risk with respect to the etiology of autism, but I feel it does deserve further study. I mention it primarily to point out that at a time when a number of birth and neural defects appear to be increasing, there should be vigorous attention to the possible role of environmental toxicity and the rising incidence of autistic and other neurological and behavioral disorders along with these other birth defects and abnormalities in our search for, at least, one of the subgroups, or one of the separate causes, of autistic disorder.

Treatment and Intervention

When I was in medical school, one of the professors always asked the same question of his students in every third year class: “What’s the first step in treatment for the common cold?” Some would say “expectorants,” others “antihistamines,” others “antibiotics,” others “rest and fluids and maybe some aspirin for fever if necessary,” etc. To which the professor would always say “incorrect.” With no “correct” answers forthcoming he would drop the clinical “pearl”: “The first step in treatment is to make a diagnosis.” That way one can be sure that one isn’t dealing with pneumonia, sinusitis, asthma, inner ear infection, flu or some other non-specific infectious or other process. Only then should “treatment” begin, with use of carefully targeted therapy for whatever the basic underlying disease is based on careful diagnosis.

That professor is right. The first step in treatment is to make a diagnosis. As pointed out above, we have a long way to go with such specificity in Autistic Spectrum Disorder. When autism is eventually separated into its specific subgroups, then treatments can be devised that are specific (targeted) rather than empirical (use whatever works). In mental retardation the use of special diets in the cases of phenylketonuria would be an example of such targeted treatment. In “autism” the use of anticonvulsants in Landua-Keffler disorder would be such an example of targeted treatment.

To many parents, though, faced with the day-to-day care of persons with autism, whether it’s called PPD/NOS, Autistic Disorder, Asperger’s Disorder or Childhood Disintegrative Disorder doesn’t really matter to them. Those “labels” seem academic and remote. Rather, they want to know “what to do.” So until such time as there are meaningful sub”groups delineated etiologically, treatment remains empirical; that is, one uses what works.

Space here precludes a lengthy discussion of treatment. There is a long list of interventions (in contrast to targeted “treatment”) in use currently: Applied Behavioral Analysis (ABA), Auditory Integration Training (AIT), Treatment and Education of Autistic and related Communication handicapped Children (TEACCH), Picture exchange system, Gluten/Casein-free and other dietary and nutritional therapies, Daily Life Therapy, Relational Developmental Intervention, hyperbaric therapy, Lyme Disease evaluation and treatment, psychopharmacology, and now even Stem Cell Therapy, just to name some of the various intervention approaches in use at the present time.

In short, lacking specific interventions tied to specific etiologies, there are a large number of interventions in use. “The Official Autism 101 Manual” (2006) published by Autism Today, Alberta, Canada has a chapter titled “Treatment methodologies and therapies” on pages 191 to 237; I refer the reader to that manual for discussion of the wide variety of treatments available. The fact that there is this wide variety of treatments available speaks loudly to the fact that, as yet, specific etiologies or causes of “Autistic Spectrum Disorders” remain non-specific and unclear.

Several things do appear clear however. With respect to pharmacology, there is no drug specific to the treatment of Autistic Spectrum Disorder. Some medications can be useful in helping with certain problematical symptoms or behaviors (hyperactivity, self-destructiveness, anxiety, insomnia, seizures, severe obsessive compulsive disorder, for example) in persons with autism. Medication use in these cases is directed to specific target symptoms superimposed upon, or comorbid with, autism and are not directed at the autistic process per se. A general rule of thumb is to “start slow and go low” with dosages and be cognizant of side-effects, always balancing risk v. benefit.

With respect to behavioral approaches one rule applies: “the earlier the better.” There is research evidence, and certainly day-to-day practice examples, of children who have improved, sometimes dramatically, with early behavioral interventions however defined. For some this is formal, structured ABA or TEACCH approaches in the home and classroom. For others it is less formal, but equally as intensive, behavioral interventions in the classroom—sometimes mainstreamed, sometimes special classrooms and sometimes home schooled—and in the homes. In these programs, one tries to reach and engage what I call “the island of intactness” in whatever form that exists, and gradually expand that island of intactness further and further out. The key words in these approaches are early and intense. For that one in 10 autistic child that has some savant skills, even at a “splinter skill” level, art, music or math may be the island of intactness that one can engage and build upon for what I call the “conduit toward normalization,” which is explored in greater depth on this website.

Early Identification by Regular Screening

In October 2007, the American Academy of Pediatrics recommended that all children be screened on a regular basis by primary care pediatricians, given the fact that children with autistic spectrum disorders do respond to early, intensive intervention as above. A paper by Johnson and Myers in Pediatrics (2007) accompanying that recommendation is an excellent overview of autism spectrum disorders in 2007, and I highly recommend it as a comprehensive review (53 pages in a 10/29/07 online version) of the incidence, etiology, neuropathology, neuroimaging, clinical signs, screening instruments, comprehensive evaluations and treatment for autistic spectrum disorders. If read, and applied in its entirety, it is an excellent surveillance and screening tool for pediatricians or family physicians. Such “screening,” while using some screening instruments, is much more that a 10-minute “quickie” questionnaire so prevalent now in screening for all sorts of diseases. Instead, this “screening” requires a careful history, family history, physical examination, observation and then, if indicated, a comprehensive evaluation as follow-up.

Predictably, the media reports of this effort distill it down to some “quick and easy” screening process and highlight only a brief portion of this comprehensive evaluation singling out signs such as “lack of appropriate gaze; delayed onset of babbling; no pointing; lack of warm, joyful expressions with gaze; etc.” Such distillation, in the absence of a full report, is a recipe for panic for many parents of perfectly normal children. You have to read the whole report, in its entirety, to capture the comprehensiveness and sophistication in this “screening.”

Such early diligence on the part of parents and practitioners regarding autistic spectrum disorders is to be commended. However making a definitive diagnosis of autistic disorder, unless it is what I call a “classic”case of early infantile autism in an infant is a difficult clinical task, at least for me. I sometimes have withheld, and proceeded with caution, in making a definitive, final diagnosis of autism in some 5- or 6-year-old children with more vague symptoms, given all that goes with that diagnosis for the child, and the family of that child. Certainly that diagnosis cannot be made with reliability with any “quick and easy” screening instrument as we have learned when trying to apply brief questionnaires to screen for “suicidiality” in adolescents for example, with reliability and without large “false positive” results and all that such identification implies.

From my savant website I get numerous “I have a son or daughter who…” e-mails from parents around the world worried that their child, who shows an unusual interest and ability in music, reading, memorizing trivia, doing math, or lining up cars in some obsessive fashion, etc. might be “autistic” because the parents have read such skills may be part of autism. I spend a fair amount of time reassuring them that some such skills, such as hyperlexia for example, are not always signs of autism and that many normal children pass through obsessive-compulsive phases of development. I remind that there are children who are musical prodigies, for example, who are “just” that—musical prodigies, without being autistic.

So while I support any efforts that promote increased awareness of autism and clinical acumen among pediatricians and family doctors—and all clinicians and educators—in identifying it, minimizing “false positives” from brief screening, and all the agony that produces in parents, particularly first time parents, will require a considerable clinical sophistication on the part of such professionals to sort out the very wide, normal variation in infant behavior particularly, from early signs and symptoms of autistic spectrum disorders in those infants. While screening instruments can be helpful, they are only so in the context of a full and comprehensive “screening” such as the American Academy of Pediatrics recommends. Such and enlightened effort may raise awareness and clinical acumen with respect to autism overall. We just need to provide perspective, and reassurance, to parents about the false positives in the meantime.

As Hippocrates said: “First, do no harm.

References

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