Cinzia Raffin

A few years ago, Uta Frith published a very successful text: “Autism. Explaining the Enigma” (Frith, 1989). This was in the late ‘80s and the psychogenetic theories on autism had only recently been discarded. According to such theories, the disorder was thought to originate from a relational or in any case psychological type problem between the autistic child and his mother, unable to express her love for him to the point of blocking his natural development into a social and communicative being. Like other metaphysical theories, psychogenetic theories were not supported by a scientific analysis of the phenomenon, but rather by a somewhat Aristotelian belief that a psycho-relational range of symptoms was of necessity related to an aetiology of a psycho-relational nature.
Even though this “weltanschauung” could be justified in the late 17th century, during a historical period in which for the first time the mind had been regarded as a field of research1 , it had certainly become an obscurantist “weltanschauung” by the second half of the 18th century, when the foundations were already being laid for the study of the human genome.
Today, even though in some ways autism continues to represent an enigma, we know much more about its causes, on its prevalence aspects and on the neuropsychological behaviour of affected patients.

First of all, we know it is not a single pathology but a range of syndromes of a neurobiological nature.
The ICD 10 (1993) and the DSM IV (1994) agree in describing this group of syndromes as Pervasive Developmental Disorders, that is mental developmental disorders whose symptoms display an early onset: they appear within the first three years of age and they last for the rest of the person’s life.
The CNS deficiencies underlying these syndromes are well known, whereas knowledge of the related aetiological factors is still rather limited.
The symptom triad that is typical of every autistic syndrome involves
a serious and generalised impairment of social interaction abilities,
an equally serious impairment of communication skills, both verbal and non verbal (the child may even be never able to develop language or spontaneously find alternative means of communiction),
and finally the presence of extremely restricted and stereotyped behaviours and interests.

The causes that may be responsible for the occurrence of such disorders are still being researched. Various different paths are being explored, the most reliable hypotheses being today the genetic theories.
Unfortunately, we are not dealing with chromosome aberrations or with mutations that can be easily investigated today, since, save for a few cases, such as the Rett Syndrome or the Fragile X Syndrome, there probably are various genes involved, and the problem is due to errors or deletions within certain chromosomes; this assumption is proved by the almost total absence of physical stigmata or by such a slight presence of such signs that they are almost unperceivable, whereas, with other chromosome aberrations, the karyotype is affected, which involves evident physical signs.
On the contrary, autistic children are often very beautiful children, so much so that in ancient times legend had it that they were fairies’ children (Wing,1997) that had been exchanged in the cradle so as to be brought up by humans, but continued to carry this mysterious origin of theirs, especially in their evasive look, unable to meet a human’s eye. Despite the absence of physical stigmata, the genetic hypothesis in the aetiology of autism is in any case supported by a number of researchers.
Studies on homozygotic twins, for instance, appear to confirm this datum, since the hereditariness factor is estimated to range between 91 and 93%. The concordance rate in dizygotic twins is much lower, as it is estimated to be around 10% (Bailey et al., 1995). In addition, other studies suggest that the genetic predisposition to autism may occasionally appear in non-autistic relatives with a phenotype that is very slight but similar to the autistic quality features (Le Couteur et al., 1996). Other aetiological hypotheses on which studies are currently being conducted relate to possible origins of an infective nature (Barak et al., 1998; Chess, 1977), to metabolic disorders (Chugani et al., 1998), to endocrine (Tordjman et al., 1997) or immunologic (Stubbs et al., 1997) causes, to anatomic malformations (Bauman, 1996), to a possible encephalopathy outcome and to epileptic pictures (the EEGs of almost 30% of autistic patients displays epileptiform activity) (Herder, 1993; Rapin 1995).
In these last few years, many studies, chiefly based on what families report as to the onset of symptoms (which in many cases takes place after 12-18 months of apparently normal development), are focusing on the possible connection between routine vaccinations and the potential immune reaction to these as a possible cause of autistic disorders (Shattock, 1988). At the same time, researchers have investigated the connections between allergic reactions to certain substances (gluten and casein intolerance) and the presence of autistic behaviours (Lucarelli et al., 1995).
Although such studies have not provided final results so far, many families already resort to specific diet restrictions in the hope that the patient’s autistic picture may improve.
As regards the origins of the autistic syndromes, we are still undergoing a research process, but, compared to a few years ago, research work has intensified and we trust that in few decades we shall have a more detailed picture as to the possible causes of this range of disorders, which continues to be one of the most serious psychiatric pathologies developing in the childhood period. It is now definite that, as the research work progresses, an increasing number of subgroups will be identified, and we shall be forced to no longer refer to “autism”, but to “autisms”, depending on the underlying aetiology.
Whatever the causes of the autistic syndromes, we know their rate is increasing (Gillberg & Coleman, 2000). Whilst the male/female ratio has basically remained unchanged2 on 4/1, it is estimated that the increase found in the number of cases in (accurately performed) epidemiologic studies between 1966 and 1997 has been of almost 4% per year.
The data published in the two above-mentioned diagnostic manuals, ICD 10 and DSM IV, is therefore already deemed to be obsolete. It is estimated today that, in its most prominent form, autism affects 1 child out of 500 children born, whereas symptoms belonging to the autistic spectrum may appear in almost 1% of children (Wing, 1996). As Donald J. Cohen stressed just before his death, this increase cannot simply be ascribed to the improved diagnostic tools we now have available, but also to other factors, which ought to stimulate us to give consideration both to causes and to prevention, as well (of course) as providing for adequate services and effective treatments (Cohen & Volkmar, 1997).
Owing to the etiologic uncertainties we have on the autistic syndromes, the treatments of choice employed today are not of a pharmaceutical but of an educational type (Gillberg & Peeters, 1995). The pharmaceutical therapy is chiefly employed for symptomatic purposes, to soothe certain problems which are often associated with autism, such as hyperactivity, sleeping disorders, self- and hetero-aggressiveness.
Physicians need to be very careful in assessing the risk/benefit ratio relating to the drugs to be administered, because, in any case, these drugs are not especially designed for autism, and they may in fact produce paradox effects, as in the case of certain benzodiazepines or neuroleptic agents, which may occasionally worsen the clinical picture (Gillberg & Coleman, 2000). Even though the tools available are very limited, physicians play a crucial role in autistic patients’ life. Today we know that the most significant variables for a favourable prognosis3 are two: an early diagnosis in order to start an effective educational programme as soon as possible, and the person’s intellectual level.
Physicians have no influence over the latter variable (even though often the retardation associated with autism in 70% of cases is not due to a physiological factor, but the result of an inadequate cognitive stimulation caused by the deficiencies which are typical of this syndrome, as we shall see further on), but there is a lot that can be done with regards to early diagnosis. Unfortunately, the slender acquaintance we had with autism over the last years and the erroneous belief that these were rare syndromes have prevented many physicians and paediatricians from being able to stress the autism risk at an early age; this delayed the time of taking charge of the patient and limited the chances that a young brain has, which greatly exceed those of an older brain.
Today we have available tools such as CHAT (Checklist for Autism in Toddlers -Baron Cohen et al., 1992), which allows a physician (not necessarily specialised in neuropsychiatry or psychiatry) to ascertain the possible risk of autism at an age as early as 18 months; this gives the physician the opportunity to address the child to a specialised centre for the administration of diagnostic and functional tests, which, if the initial suspicion is confirmed, allow a very early beginning of the educational-rehabilitative course. The CHAT investigates the existence of certain behaviours and the absence of others which distinguish the normal mental development from the autistic development.
As it will have already appeared clear from the aetiological data, the autistic syndrome diagnosis is substantially a clinical diagnosis. However, unlike what tended to happen a few years ago, clinical observation is very accurate nowadays and does not leave much room for subjective evaluations. This happens thanks to the employment of standardised instruments and measurable criteria which are universally shared by the scientific community. An accurate diagnostic protocol must provide for these tools to be employed by adequately trained professionals. Alongside the diagnostic evaluation, a functional evaluation of the child is required, in order to lay the foundations for the educational-rehabilitative process.
The first evaluation must include anamnesis, including the family history, with special reference to data relating to the gestation and perinatal periods. As regards the physical and neurological examination, it is obvious that a scrupulous physician will accurately examine the child; however he will have to be aware of his neuropsychological behaviour, because even a simple manoeuvre, such as measuring the cranial circumference, can be very difficult to implement on an autistic patient, as we shall be illustrating further on. Hence the need to approach the diagnostic process with adequate information and possibly assisted by a team of professionals specialising in autism, who know how to deal with the child and prepare him for the test he will have to undergo. (Raffin, 1999) As regards laboratory and instrumental tests, the tendency of professionals specialising in autism is that of not putting the child under stress by having him undergo a myriad of tests almost always offering (at least in 50% of cases) little or no relevant information, either from a diagnostic or from a therapeutic point of view.
Certain tests, as well as the routine ones, must be carried out, such as for instance: karyotype, including fragile X research, electrolyte level, pyruvic and lactic acid, serotonin, 24 hour urinalysis: uric acid, calcium and phosphorus, as well as creatinine. Also advised are an EEG during a nap, an ophthalmologic and hearing test, and a brain imaging study (Gillberg & Coleman 2000). Any other exams should be only prescribed based on the results of the first set of tests, or based on precise indications emerging from the patient’s family anamnesis.
Of course, some believe that more tests should be conducted and suggest a different protocol. (Adrien et al., 1989, Barthélémy et al., 1998, Volkmar et al., 1999, Filipek et al., 1999) The essential aspect is that, as soon as the specialist, or rather the team of specialists, has reached a diagnostic hypothesis, they may be able to convey this to the family, and be able to promptly and tangibly provide a response to the question that the family will immediately be faced with: “what can be done?” (Raffin, 2001b). In my position as Manager of the Children and Autism Foundation, I have really heard too many accounts of distraught and confused families, who had been delivered a diagnosis, often expressed in confusing terms, and were then left to deal with “what had to be done” on their own (Raffin, 2001a).
As to the things to be done, there really are many: the first one is in fact that of establishing an adequate relation with parents, who should be regarded, from the very beginning, as co-therapists (Prata & Raffin, 1999), that is people who have competence with respect to the information they can supply on their child, and whom should be trained to provide “special” education to the child. From this point of view, there is nothing worse than using that detached attitude that often characterises a professional and leads him to make aberrant statements such as: “You continue to act as a mother; you are not supposed to become your child’s therapist”. We ought to wonder what this statement actually means.
Provided it is relatively easy to act as the parent of a normal child, it certainly is not an easy or intuitive job to act as the parent of an autistic child, owing to the confusing features of this pathology. First of all, as mentioned above, an autistic person is badly impaired in his communication abilities. What is missing is not simply verbal language, which in most cases appears later than in ordinary development or may not appear at all, but the ability to use spontaneous communication during interaction.
Even the simple gesture of pointing the forefinger at something to request it or show it, a gesture which spontaneously appears in children when they are only a few months old, cannot be controlled by an autistic child, who does not understand its communicative value and prefers to drag an adult’s arm towards the things he cannot reach. One may think that dragging another person’s arm is a form of communication, but this is not the case. Indeed, an autistic child drags the arm of whatever person comes his way, it may even be a stranger he is using as a mechanical tool. The act of indicating, on the other hand, infers that the child possesses the genetic predisposition to relate with other people, some sort of awareness that the adult will “decode” his message. A normal child will indeed use, together with this gesture, a whole range of other communication tools: he will vocalise as he looks at the adult and seeks his eyes, after which he will look in the direction of the desired object.
His brain “knows” that the adult will look in the same direction in which he is looking. (Baron Cohen, 1995). All this is missing in the autistic child, who does not posses the shared-look concept, he avoids eye contact, does not reply when called by name, and does not react to cuddles or reacts in bizarre ways: sometimes he seeks them and accepts them, sometimes he may even be irritated if touched unexpectedly. Even when and if he will learn to talk, his language will often echo the adult’s words or will repeat in inconsistent contexts slogans heard on TV. The child may speak in the second or third person and will hardly ever use language to request, relate or comment. (Watson et al., 1989). The symbolic apparatus displays extremely severe deficiencies which also affect play. Autistic children cannot “pretend” in their games, and they have in fact only few games, which are repetitive and often stereotyped (Jarrold et al., 1993). In relating with others, they fail to have that social intuition we have and which is so helpful, also in facing new situations. Autistic patients do not appear to have this faculty and do not appear to be able to sense social rules, ranging from the most simple, such as saying hello and not screaming in public, to the most sophisticated, such as evaluating whether it is advisable or not to blame somebody for having lied.
Autistic people can certainly learn, through a good educational programme, great part of social rules (Baron-Cohen S. et al., 1999), but they will do so in a cognitive manner, and therefore, given the lack of social intuition, the application of such rules will always appear clumsy and/or mechanic. In any case, it is better if autistic people are assisted as they learn such rules, rather than being left on their own to learn them in an “incomprehensible” manner. Temple Grandin4 described herself as a young woman as “an anthropologist on Mars” 5 , unable to understand why other people moved, spoke and thought as aliens (Grandin, 1996). Inability to use ordinary communication channels, and the lack of social intuition, can make the life of an autistic person become a living hell. As Therese Joliffe wrote (Joliffe et al., 1992), in the chaos of an incomprehensible world, autistic people protect themselves by attempting to ritualise their lives. Never changing itineraries, precise timing and repetitive action sequences help them not to get lost and not to go crazy.
But there are people who do not have the so-called “high-performance” resources of autistic patients such as Grandin or Joliffe, and the fear generated by a world which they are unable to comply with can trigger self-destructive behaviours (such as biting oneself to the point of bleeding, or banging one’s head against the wall - Ianes,1998) or aggressiveness against other people, which, viewed from the outside, appears in most case unjustified.
The crises experienced by autistic people are not only generated by lack of understanding form the outside world and by communication difficulties, but also by reactions to sensorial stimuli which are dealt with in an altered manner at a Central Nervous System level. In her article Temple Grandin clarifies how many sensorial problems an autistic person has. Today, many of such problems are being scientifically investigated and are part of those neuropsychological studies which have so far provided us with the greatest results in understanding the autism enigma (Happé, 1994; Happé et al., 1996). First of all, there appears to be a sensorial hypersensitivity, which is why certain stimuli, as for instance visual ones, are perceived in an “anti-Gestalt” manner, that is in the opposite way, compared to what happens for the majority of us.
This means that such stimuli are often disconnected from the whole and from the context and impress the person’s memory in full detail (Peeters, 1994). This enables for instance very small autistic children to put a puzzle together upside-down, since their selective attention enables them to distinguish the shape of the parts to be joined together. On the other hand, it is very difficult for them to refer to complex models or patterns, since they are unable to perceive them as a whole. In this regard, Uta Frith talks about the “lack of a central consistency strength” (Frith, 1989). This is a function that our brain possesses and that enables us to also combine into a consistent vision stimuli which differ significantly from each other.
The central consistency strength is the ability we have to group into a single conceptual category, such as for instance “horse”, a thousand different horses, differing in race, coat, size, real horses or photographed, portrayed or stylized into a symbol. An autistic child I know once said, whilst looking at the picture of a giraffe with a spotted coat, a fawn-coloured giraffe with a striped coat and a leopard, that the giraffes were the giraffe with the spotted coat and the leopard. For that child the detail relating to the coat colour prevailed over other details which we would have referred to for discrimination. From a taste and smell point of view, many autistic people are also selective.
Through taste and smell, they manage to perceive “imperceptible” variations in smells and tastes, which occasionally oblige them to comply with very restrictive diets, or to go and sniff quite unusual things in order to make their choices. Hearing is also impaired. As a rule, they can hear almost imperceptible sounds, and be troubled by confusion or noises, possibly because these are split into a thousands stimuli the brain reacts to without the aid of any filter. This certainly does not aid language learning, nor participation in social events, such as school and working environments, which obviously must, in terms of breaking down architectonic barriers, adjust to this handicap. The reaction to tactile stimuli is also very bizarre. Many children can prove apparently insensitive to pain, whereas on other occasions, a simple touch, such as a stroke on their hair, can create such anguish that it will cause them an actual behavioural crisis.
Studies on memory have emphasised great differences between autistic and non-autistic people (Boucher et al., 1976; Mottron et al., 1998), since the mnemonic categorisation of environmental and experience data appears to be definitely different from that used by normal people. In particular, visual and associative memory is privileged, whereas many deficiencies are displayed in the so-called working memory, the one which allows us to keep in mind, for a very limited period of time, the information we need in order to complete an action. At the same time, we know today that many deficiencies are found in operational functions, as a result of which problem solution is hindered by rather bizarre reasoning processes, which are often restricted to visual experience. (Pennington & Ozonoff,1996).
Knowledge of the neuropsychological behaviour of a person suffering from autism has played a crucial role over the last few years in order to put together educational and rehabilitative projects. Based on the limited amount of information emphasised through this article, it is clear that, in order to be dealt with, this disability requires an overall project “from the cradle to the grave” (Raffin, 2001c). From the diagnostic screening to adult life, these patients require an approach which does not do violence to their own operating processes. They need to learn, but they need to do so through means and methods that are in harmony with their cognitive styles, because they cannot (it is not simply that they do not want to) respond to ordinary educational systems.
They require communication methods complying with their specific deficiencies. Autism experts know that many of the pathologic features of this disability may be in fact resorted to in order to encourage the learning process. Routine, for instance, does not of necessity prevent learning: much greater difficulties can result from a parent or a teacher who expects creativity and imagination from an autistic child. It would be like expecting that, in order to move, a paraplegic person necessarily has to walk.
Today, a lot has been done for the “visible” disability, such as the motor one, whereas a lot still needs to be done for the mental handicap, which is less visible but extremely disabling, unless it is tackled in the correct manner. But, as Popper used to say, any mistakes made in the past have always been the driving force behind knowledge. For a professional, autism can be a challenge that can and must be faced with the weapons of science.

Cinzia Raffin
Scientific Director of Foundation "Bambini e Autismo" – ONLUS , Pordenone (Italy)

1 An always healthy mind, which could only get ill as a result of an ill environment.

2 Howver, there are studies that, by restricting the research to the Kanner autistic syndrome, detect a definitely higher ratio: 16/1 (Wing and Gould 1979), 13/1 (Gillberg et al. 1991). This points at the possibility that, depending on the autism subgroup, the male/female ratio differs.

3 When we refer to ‘favourable prognosis’ here we are not referring to recovery, but to a satisfactory quality of life in terms of independence, self-esteem and wellbeing of the autistic person and of the surrounding people.

4 Please refer to the article published in this issue.

5 This definition later provided the title for a famous book by Oliver Sacks (Sack, 1995)