Last week I met with the parents of a 50-year-old woman, Mary, who has autism and intellectual disability. After 20 years living in a congregate setting, Mary has finally been provided with her own home and does not have to share it with other people. Mary talks about this transition as her ‘romotion’. The meeting with Mary’s parents was to reassure them that Mary is adapting well to her new living arrangement and has shown a significant decrease in her levels of stress and anxiety associated with her diagnosis of autism. We were able to share with Mary’s parents the great strides that Mary continues to make in terms of new life experiences—her first-ever train journey, her first trip to the cinema and her commitment to the impending odyssey of travelling to visit her brother and his family in the south of the country for the first time. It was only when the conversation paused that it became clear that Mary’s parents had other concerns. They asked hesitantly, ‘…and are you sure that Mary has autism? We were told previously that she had paranoid schizophrenia.’ Mary’s story is not unique.
When autism researchers arrived at a State Psychiatric Hospital near Philadelphia in the United States a few years ago, they found a 63-year-old man who spoke at length about Elvis Presley, compulsively rocked in his chair and patted the corridor walls. The man, who had lived in the psychiatric hospital for most of his life, displayed what the researchers considered the classic symptoms of autism. His medical notes, however, said that he was ‘schizophrenic and mentally retarded’. When they delved through the file the researchers learned that this man had been seen by Dr Leo Kanner, the psychiatrist who had first described autism. In notes dated from 1954, Kanner himself had given this man a diagnosis of autism. Later other doctors had changed the diagnosis.
The researchers discovered 13 other patients with autism that had gone unrecognised in the hospital—about ten per cent of the residents they evaluated. It demonstrates how medical standards and societal attitudes toward the disorder have shifted.
Over the past two decades, estimates of the rate of autism have climbed twenty.fold. Autism was once thought to be an uncommon disorder. It is now thought to occur in a least 1% of children. However, there is a 6-14 fold variation in current studies estimating prevalence rates. When Leo Kanner first described autism in 1943, he based his observations on 11 children. By 1966, estimates suggested prevalence rates of 4.5 per 10,000 children. By 1992, 19 in every 10,000 children were diagnosed with autism. Numbers have since skyrocketed. By 2006, the US centres for disease control and prevention (CDC) found that autism was now affecting 90 in every 10,000 child—in other words 1 in every 110 children had a diagnosis of autistic spectrum disorder.
Many researchers believe that this increase has been driven largely by an expanded definition of the disorder and more vigorous efforts to identify it. We are now just beginning to identify individuals whose autism was overlooked or who were misdiagnosed in a previous era. If this research demonstrates that autism has always been present at roughly the same rate as today, it would ease worries of a so.called ‘autism epidemic’.
In 1994 the Diagnostic and Statistical Manual (DSM 4) of the American Psychiatric Association changed the criteria for autism. There were two significant contributions: the inclusion of an unexpectedy popular new diagnosis, Asperger’s Disorder, and editorial revisions that were meant to clarify the criteria for autism (but may have inadvertently lowered the threshold for its diagnosis).
No one knows for certain what causes autism, although genes and environment both appear to be involved. Researchers now broadly accept that there is no single cause of autism. It has been linked to epilepsy, digestive problems, immune or hormonal dysfunction, mitochondrial function and more. It is now clear that autism is a neurobehavioural disorder.
Since autism was first identified, ideas about the causes have swung to and fro between nature and nurture. The early focus on ‘refrigerator mothers’ resulted in a backlash and an emphasis on genetic factors. In February of this year, Irish psychologist Dr Tony Humphreys wrote an article in the Irish Examiner, questioning the assumption that autism is a scientific fact. Dr Humphries proceeded to suggest that the reported higher rates of autism among children of parents with careers in areas of science, maths and engineering, could be accounted for by the fact that these children ‘will need to find some way of defending themselves against the absence of expressed love and affection and emotional receptivity’.
Such views were previously purported by psychodynamic theorists, such as Bruno Bettelheim (in the 1950s) who blamed autism on the parents, considering them to be cold, logical, and unaffectionate (e.g. ‘refrigerator mothers’). After many years of research autism is now known to be a neurodevelopmental disorder that is frequently genetic in origin. This archaic and unsupported hypothesis implicating parenting as a causative factor in the development of autism has caused great upset among parents of children diagnosed with autism. Dr Humphreys’ article has been criticised by the Psychological Society of Ireland, Irish Autism Action and the neuroscientist, Professor Simon Baron-Cohen, whose research was questioned in the article.
Dr Humphreys specifically referred to the distinction between diagnoses of classic autism (as described by Kanner in 1943) and the new diagnosis of Asperger’s Syndrome, appearing for the first time in DSM 4 (1994). Dr Humphreys describes the diagnosis of Asperger’s Syndrome as ‘being used in an alarmingly and rapidly increasing way, in an attempt to explain children’s more moderate emotional and social difficulties’. He is not alone in expressing concern that with this lowered diagnostic threshold and resulting increased inclusivity, Asperger’s has brought autism to the fuzzy boundary with normal eccentricity and social awkwardness. There is growing concern that some people are misidentified as having the diagnosis of Asperger Syndrome, when they really don’t.
According to Dr Catherine Lord, of the DSM.5 Neurodevelopment al Disorders Working Group: ‘If the DSM.4 criteria are taken too literally, anybody in the world could qualify for Asperger’s or Pervasive Developmental Disorder—Not Otherwise Specified’. over-diagnosis creates the personal costs of stigma, reduced expectations and unnecessary interventions. The costs to society include the diversion of scarce educational and therapeutic resources away from those who need them. Many parents of children with severe autism are in favour of stricter criteria, arguing that children who are most in need should receive the available supports, rather than those with milder symptoms.
Perhaps we should listen to what individuals with autism are telling us. Autistic author, Donna Williams, in her book called The jumbled jigsaw, has presented a holistic model called autism as a fruit salad model. Williams proposed that the severity of someone’s autism could be linked to their degrees of co-morbid communication, sensory.perceptual, gut/immune, neurological integration, mood, anxiety and compulsive disorders a person inherited or developed, coupled with cognitive and learning style differences and unusual personality trait collections. Williams suggested that these challenges came about via different combinations of pathways including genetic inheritance, toxic exposure and clashing socio/sensory environments.
The view that there is no one condition called autism goes some way to help account for the heterogeneity of the condition. Autism spectrum disorders are just that, spectrum disorders. Research published in 2011 suggested that where a child is assessed can determine what diagnosis the child is given. ‘Clinicians at one centre may use a label like Asperger’s Syndrome to describe a set of symptoms, while those at another centre may use an entirely different label for the same symptoms. This is not a good way to make a diagnosis’, says the study’s lead investigator, Dr Catherine Lord.
DSM 5 proposes a radical reorganisation in how autism is defined. Instead of separating classic autism from Asperger’s Syndrome, there will be one unified ‘autism spectrum’ disorder with a single criteria. The rationale is that there is no clear boundary between the two and that autism is one disorder presenting with different levels of severity. The system also has the advantage of raising the diagnostic requirements for the milder presentations of autism above those required for Asperger’s Syndrome in DSM 5. It is hoped that this will address the issue of over diagnosis—however, only time will tell.
While researchers grapple to reach agreement on an arbitrary diagnostic classification system, we can but hope that people like Mary and her family will never again be sentenced to a life of being misinformed, misunderstood and provoked by a system that did not recognise her autism, and a social and physical environment that has only now been sufficiently adapted to meet Mary’s needs.