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Expanding horizons — the new autism is on the broader spectrum

Autism is defined in the ICD-10 as an abnormal or impaired development before the age of three years, in at least one of the following areas: Reciprocal or expression of language as used in social communication; the development of selective social attachments or of reciprocal social interaction; and functional or symbolic play.

To get the diagnosis of autism, you have to have at least two of the following four features: (a) Failure to adequately use eye-to-eye gaze; (b) failure to develop peer relationships; (c) lack of socio-emotional reciprocity; and (d) lack of spontaneous seeking to share enjoyment. 

This must be followed by at least one item from the following list: (i) Delay or total lack of development of spoken language; (ii) relative failure to initiate or sustain conversational interchange; (iii) stereotyped and repetitive use of language; and (iv) lack of variate spontaneous make-believe play.

This has to be followed by at least one of the following items: (a) An encompassing preoccupation with one or more stereotyped and restricted patterns of interest; (b) preservation of sameness; (c) stereotyped and repetitive motor mannerisms; and (d) preoccupations with part-objects or non-functional elements of play materials.

Asperger’s syndrome, as per ICD-10, has similar features, except that there is no clinically significant general delay in spoken or receptive language or cognitive development. This has been deleted from the American Psychiatric Association’s DSM-5, and will be deleted from ICD-11, most likely, in its final approved version (draft version now available for debate).

History of diagnosis of autism

There has been a massive broadening and evolution of the concept of autism over the past three-quarters of a century. Hans Asperger described it first in modern times, in 1938. Leo Kanner published a classic account in 1943, having got the features from two of Asperger’s colleagues who had emigrated to America at the time of World War II to work with Kanner. The prevalence of autism depends on whether you use old, narrow, out-of-date concepts of autism or new, broader concepts of the condition.

The original prevalence studies of autism in Ireland were conducted by McCarthy, Fitzgerald and Smith and showed a prevalence of 4 per 10,000 in the old Eastern Health Board in Ireland. The current prevalence from the US Centers for Disease Control and Prevention (CDC) in 2016 put the prevalence of autism at one-in-68. I believe that is the correct prevalence.

Autism is under-diagnosed in Ireland and often comorbidities, (which often co-occur) — like attention deficit hyperactive disorder (ADHD), oppositional defiant disorder, dyspraxia or depression — are often diagnosed first and the fundamental problem of autism is missed, with serious and detrimental consequences for the child.

Early diagnosis is critical for a good outcome and there is universal agreement on the critical importance of this early diagnosis and interventions. One of the problems is that the UK National Institute for Health and Care Excellence (NICE) guidelines are not followed. They are very clear that the diagnosis of autism is a clinical diagnosis by an expert in the area of autism. They do not recommend any current test, questionnaire, or structured interview for the diagnosis of autism. Unfortunately, in Ireland, the Autism Diagnostic Interview-Revised (ADI-R) is often regarded as the gold standard diagnosis. It is far from this. It is a very reasonable instrument to use in research, because researchers can compare their findings on this instrument between countries. Unfortunately, in clinical practice, it is often not suitable because parents come to me saying that their child is ‘ADI-R negative’, which to them and to everyone else means that the child does not have autism. Of course, the parents themselves, the schools and everybody else can see clearly that they have autism, as defined by the broader autism phenotype, which is accepted throughout the world now.

If they do not get a diagnosis, then it is a tragedy for the parents, for the child themselves and for the schools, because the child is deprived of early intervention services, special needs assistants and home tuition if necessary, if they are at a very young age. They are also then deprived of the specialised speech and language therapy and occupational therapy they so urgently need.

It is hardly surprising that this leads to massive frustration for parents, teachers and for the child themselves and these children often become very depressed, very anxious, etc. They also develop behavioural disorders, particularly oppositional defiant disorder. Prof Dorothy Bishop, Professor of Developmental Neuropsychology at the University of Cambridge told Adam Feinstein, who wrote a book called Autism in History, that, “the main problem with the ADI-R is not just the financial cost (though that is certainly prohibitive), but also the cost in time; time for training, time for administration, and time for scoring and consensus coding”. Prof Bishop also stated that “if it could be shown that there were real benefits in accuracy of diagnosis from adopting this lengthy procedure, then I would be happy to say, ‘okay’, but, the originators of this instrument have never demonstrated that you actually need such a long process; it is really more an article of faith with them”.

For me, faith is a religious concept. The real issue is that the concept of autism has greatly expanded, as research into what autism is has been carried out. Old-fashioned narrow concepts, which are still being used, have no place in autism diagnosis today. The International Meeting for Autism Research in London in May 2008, which many of the most experienced researchers in autism in the world attended, “lambasted the tool (ADI-R) for missing many cases of autism” and maintained that it was an expensive and “ineffective instrument”. Prof Bishop stated that even after using this instrument, there was no choice but “to seek expert clinical opinion”.

The British Journal of Psychiatry stated in August 2017 that the ADI-R was significantly “under-diagnosing toddlers”.

Prof Gillian Baird previously showed that if you use narrow criteria for autism, “you get a prevalence of 25 per 10,000 and when you use the broader, current criteria, you get a truer rate of 116 per 10,000”. The tragedy is that you miss over three-quarters of the patients with autism if you use narrow criteria and deprive these children of critical early interventions.

Another tragedy in relation to autism was that Bruno Bettelheim propagated the ‘Refrigerator Mother’ theory, first proposed by Kanner, as a cause of autism. This was a total tragedy for parents with children with autism. Sometimes now children with autism are diagnosed as having attachment disorders and the autism is missed and again, this allows the blaming of the mother to enter by the ‘back door’. 

Autism is a neurodevelopmental disorder and indeed, the major portion of psychiatry is now dealing with neurodevelopmental disorders, which also include ADHD, global developmental delay, communication disorders, language disorders, speech-sound disorders, specific learning disorder, developmental co-ordination disorder, stereotypic movement disorder and tic disorder, according to the DSM-5. Indeed, many psychiatrists see schizophrenia and bipolar disorder as also neurodevelopmental in origin.

There is a huge amount of overlap between these disorders. Indeed, these disorders need to be checked for by a child psychiatrist every time they see a patient referred for child psychiatric assessment.

The future of psychiatry will be neurodevelopmental. Unfortunately today, there is massive emphasis on parenting skills, both in child psychiatry and in the wider media. A great deal of this is misguided and is simply blaming the mother from a new position. In my view, over 95 per cent of parents are good enough in their parenting. Heritability of autism is about 90 per cent, although various figures are given around that position. It is nothing to do with poor parenting; it has major neurobiological underpinnings. Neurochemical abnormalities at the synaptic cleft are important, as indeed are connectivity issues in the brain. The pathophysiology involves discussions of the serotonin system, the GABA system, reelin, neurotrophins, neuroligins and neurexins.

Autism is neurobiologically heterogeneous and areas researchers are focusing on include the limbic system, cerebellum, brain stem and prefrontal cortex, as well as the amygdala. 

Treatment

There is no aetiology-based intervention for autism spectrum disorders, but there are many interventions that are extremely valuable, and even more valuable if the child gets an early diagnosis with the possibility of these earlier treatments. I am being referred patients now around one-and-a-half years old, or indeed younger, for diagnosis. Many of these early referrals would be siblings of patients with autism who have an increased risk. There remains no definitive treatment for autism, although many make such claims, but there is no scientific evidence for them. At the same time, there is no doubt that various interventions — including speech and language therapy, occupational therapy, behavioural therapy and high-quality early intervention education — all play a significant role and are very valuable when applied as a group of interventions.

Extraordinary claims were made for applied behavioural analysis and claims of amazing results with this treatment were made in 1987, when Lovaas carried out a study which, according to Dr Catherine Lord, a psychologist who specialises in autism, “produced extraordinary results, both in the scope of improvement of some children”, who are described as, “indistinguishable from normal”. Others found it impossible to replicate these findings in follow-up research. Some of these children were noted to show robotic behaviour, lack of emotion and an inability to use trained skills outside the school where these were applied. At the same time, as part of a multidisciplinary package, applied behaviour therapy does have a role. It is the excessive claims that have been the problem.

Another programme that has been of benefit is Treatment and Education of Autistic and Related Communication Handicapped Children (TEACH). This programme helps workers to understand the autism culture and identifies emerging skills, providing a basis for individual educational programmes. It breaks down complex behaviour into basic components and skills, which are taught in a hierarchical manner with repeated practice. It involves a great deal of visual learning. Carol Gray’s Social Stories, which explain the why and how of trouble social situations, can be of use. These involve short scripts tailored to the needs, interests and abilities of the child.

In addition, programmes like the Hanen Speech and Language Programme for Autism and pragmatic language therapy can also be useful. Other interventions that make clinical sense, including using the Mind Reading Skills CD-ROM of Simon Baron-Cohen, helping persons on the autism spectrum to read non-verbal behaviour and to understand emotions and to see things from other people’s perspective.

Occupational therapy is valuable for sensory issues, which are extremely common in autism and indeed are part of the diagnostic process now in DSM-5. These sensory problems often cause huge behavioural problems in school and outside school, when children with autism become overwhelmed by sensory inputs.

References on request

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