“It is for us to enter their world”

Stephen Wiltshire, The Amstel River, Amsterdam, encre et crayon, 1991 Depuis son enfance, Stephen Wiltshire est passionné par l’architecture et doté d’une mémoire visuelle peu commune. Il dessine des villes et, comme il a le goût des voyages, restitue avec une  précision remarquable celles qu’il a visitées ou survolées. Ses dessins ont  déjà fait l’objet de trois ouvrages. La rivière Amstel (Amsterdam) fait partie  de Floating Cities (New York,1991). Collection of Henry Boxer Gallery Stephen Wiltshire has been passionately interested in architecture since childhood and is gifted with an uncommon visual memory. He draws towns and, as he likes to travel, he reproduces with remarkable precision those he has visited or flown over. His drawings have already been published in three works. The Amstel River (Amsterdam) is featured in Floating Cities (New York,1991). Collection of Henry Boxer Gallery

Today better studied in genetic terms, better identified by brain imaging, and with improved care under certain programmes adapted to individual sufferers, autism still needs reliable and earlier diagnoses if treatment is to bring the best possible results. Michel Favre – research director at the INSERM, head of unit at the Institut Pasteur (FR), president of the Pro-Aid Autism Association and vice president of Autism-Europe responsible for scientific issues – takes stock of the current situation in our approach to this behavioural disorder.

Do you regard autism as an illness?

An illness, or a handicap, in any case something abnormal. Yet when you think about it, autism is expressed in the exacerbation of a behaviour that in itself generally lies within the norm. Aggression for example... multiplied 10 or 100 times. There are many different forms and each autistic subject is an individual case with his or her own criteria and ways of reacting to and understanding the environment. That does not make it easier for researchers to understand the phenomenon, especially as, depending on their speciality, they do not necessarily use the same criteria.

Nevertheless, at present we group all autism, with their very different degrees of severity, under the vast label of “pervasive development disorders” (PDDs). We have still not really identified the genetic, cerebral and cognitive mechanisms at work. Sometimes we are faced with totally withdrawn individuals blocked off from the outside world and sometimes with lively and relatively normal individuals who nevertheless need constant support because they feel lost in certain areas – managing a budget, for example.

Autism is often attributed to genetic anomalies. What is the situation in this respect?

Major research is being carried out into the genetic nature of autism. A high correlation between identical twins, increased incidence in families where one child is affected and the association with known genetic diseases indicate the existence of genetic factors favouring the development of autistic syndromes. But this handicap is particularly difficult to grasp as it is generally the result of the malfunctioning of a number of genes – at least 20 and perhaps as many as 100 – that can result in an identical or different phenotype. In other words, depending on the case it is different genes that come into play. The first genes that were identified as being involved are located on the X sex chromosome. This is responsible for other illnesses such as Rett syndrome (MECP2 gene) or Fragile X syndrome (FMR1 gene), and persons suffering from these syndromes can show autistic characteristics. Studies on changes to the X chromosome have also served to highlight changes in the neuroligin genes (NLGN3 and NLGN4) that are involved in the mechanisms for forming and maturing synapses in the central nervous system. US researchers have also reported a change in the MET gene that plays a role in the brain’s development. The genetic variant observed in the MET gene, for example, increases the risk of having an autistic child by a factor of 2.5.

Is this knowledge making it possible to refine the diagnoses?

In most cases the genetic test can simply indicate a greater or lesser degree of probability of the illness appearing. It is therefore necessary to differentiate between a genetic diagnosis and genetic advice. When a change has been identified in a family there is nothing to prevent a genetic advice consultation. Parents need to know whether or not they run the risk of having an autistic child and then it is for them to decide. But this research is still in the early stages. It would be ideal to have criteria to permit an early diagnosis – at present the diagnosis is made at around three years of age. That would make it possible to act early on a brain that is still very malleable. The sooner the appropriate treatment is provided the less severe the handicap will be.

You say three years of age, but the behaviour of a baby should already be able to attract the attention of its parents…

Certainly, but constantly studying your baby can cause a lot of anxiety. Also, some children can have a somewhat strange behaviour at the age of two and a year later is totally within the norms. Should they receive treatment? Should we cause anguish to a family by saying that there is the risk of a handicap? That is a very difficult question to which I personally do not have an answer. In any event, at present we are lacking any criterion providing a 100% assurance that a given child, examined at the age of two, will be autistic.

Does not medical imaging make it possible to know more?

Research on medical imaging is also teaching us a great deal, I believe, about the brain’s reactions in an autistic person compared with a normal brain, detecting for example a lack of activity in several areas in the two temporal lobes. These abnormalities in the temporal lobe could be at the origin of autistic symptoms and also of a disorganisation of neuronal circuits. The brains of these children would thus show structural and functional abnormalities. We have come a long way from psychoanalytical explanations but we do not yet have real explanations and even less any hypotheses for treatment. Moreover, present research developments give every reason for hope in terms of the potential use of stem cells. This would involve trying to re-implant stem cells in the brain and reprogramming them so that they can repair a neuron that establishes what type of connections will respond to a visual, auditory or other stimulus. As for many illnesses, the focus is turning to neurobiology.

So there is not any real treatment available?

That depends on what you mean by “treatment”. There is support for autistic persons. Methods that enable them to learn to be autonomous, in a world they can understand, and to communicate in cases when they do not speak. It is in this area that we must act for the time being, especially in training professionals and parents who will look after these children. Some very good programmes have been developed in the past 50 years by American professionals, such as ABA and TEACCH. The latter is evolving all the time in the light of the experience of practitioners or by listening to autistic persons who can speak and say what they feel in certain situations. All of this helps achieve progress in the methods and to adapt them more effectively to each individual. An important principle is not to try and place the autistic person in our world bur rather to place ourselves in their world, to try and understand how they function and create a world around them that they can perceive so as to help them understand this environment and give them the means to communicate.

Do you find different situations in different European countries?

In Sweden, the municipalities make a competent person available to the parents from the start and you are sure that your autistic child will be monitored continuously at all stages in his or her life. In Italy, slightly handicapped children who are able to communicate are accepted very well in mainstream schools. Parents are pleased that, due to their presence, there are fewer pupils per class and more teachers. When it is explained to the children that one of their classmates has a problem and needs to be helped and not picked on then there are no problems. In France, we were in the grip of certain psychiatrists and psychoanalysts for years. We now know the harm done by the theories of Bruno Bettelheim that instilled a sense of guilt in many mothers by telling them that autism was due to “refrigerator mothers” who were unable to form a relationship with their child. All of this did untold damage and parents finally got together to form associations. They were tired of falling victim to psychoanalytical psychiatry and decided it was time to support and develop other approaches. I am not condemning psychoanalysis but simply saying that it is not for the autistic person. A great many psychiatrists and psychoanalysts have today reached the same conclusion.

What do autistic persons need most?

The most important thing is to make them happy. For that they need to live in a world in which they suffer the least possible distress. Within this world that is adapted to them, one that will be different for each individual, they must be made as autonomous as possible. Autistic persons must be considered as citizens with the right to education and care rather than being shunted off somewhere where nobody will see them. Autism Europe, an NGO representing over 80 associations in about 20 European countries, is committed to defending these principles. People least affected by these pervasive development disorders – who sometimes have an IQ far above the average – can very well benefit from a school curriculum if it is adapted. Schools must be given the possibility of accepting this type of child. And, as you know, the right to education never ends.

Interview by Christine Rugemer.