Risks and Complexities of Autism Diagnosis
- 1. Department of Child Neuropsychiatry, Italy
INTRODUCTION
The first relevant effect of a diagnosis or suspicion of autism, or autism spectrum disorder(ASD), in toddlers and children is an emotional devastation in the great majority of families. After six days 4 mothers out of 5 go into depression which in several cases lasts over a year [1]. Fathers can also be affected in a similar way
Taking care of this familial impairment may often require the use of a pharmacologic treatment for depression. In addition it must be noticed that the way how that diagnosis is communicated by clinicians has a significant impact on familial communication: among parents and between them and their children [2]. In fact when parents, interacting with their child, have an adequate emotional behaviour with him, there is often a positive counterpart in child’s behaviour and sometimes in its recovery. These common consequences of these diagnosis are usually not reported in most guidelines on this topic and often do not become an important part of visit, added to child’s diagnosis on behalf of a neuropsychiatrist.
In this respect the pediatrician, who takes care of all the aspects of child’s health, can be of great help both in directly treating parents in need or referring them to an appropriate specialist as well as supporting them with an appropriate discussion on child’s conditions and perspectives.
CITATION
Zappella M. Risks and Complexities of Autism Diagnosis. Ann Pediatr Child Health 2022; 10(7): 1293.
MISDIAGNOSIS AND OVERDIAGNOSIS
When speaking with parents, it is important to have an extensive knowledge of the present debate on diagnosis, misdiagnosis and their consequences.
It must be emphasized that the context is an important variable that can contribute to misdiagnosis: a disturbing environment for children with difficulties, and in some cases even for normally developing children, creates the prerequisites for manifestations of anxiety, hostility and avoidance reactions As consequence the child may produce inappropriate responses in a number of clinical situations and among them in interactions which are part of semi-structured tests. In my experience, some children with speech delay refused to do the ADOS-2 ‘doll’s birthday’ task in an outpatient hospital setting but happily did so in their favourite speech therapists’s office.
The choice of the test used for diagnosis of ASD is a delicate matter. It can be presented as a main tool for diagnosing ASD, as in the case of ADOS-2, but in a different perspective other tests are considered as additional tools that can contribute to clinical diagnosis. An example of the last approach is the Childhood Autism Rating Scale(CARS), presented by Schopler et al. [3], which is based on the guidelines for observing, with assessment of verbal and non-verbal interaction and the ability to imitate, including information received from parents and, possiby, other relatives. This is appropriate for a friendly, calm environment, where the child is in the family circle. This is common practice in Russia, where doctors diagnose children on a clinical basis with reference to ICD10f84 criteria, supported by the CARS test. Recent studies run in Russia showed a prevalence of 18 per 10.000 [4].
A similar viewpoint is common in France where the diagnosis of ASD is made by a psychiatrist and is based on the clinical picture with referral to ICD10f84. Prevalence was found in some parts of the country to be with average levels of 36.5 per 10.000 [5]. Similar procedures to diagnosis and prevalence results are found in Germany and Poland and prevalence results are similar to the above quoted for France. A prevalence study conducted inTianjin(China), where the International ICD-10 f84 were used in assessing children, found a prevalence level of 27.5:10.000 [6].
Opposite results have been obtained with a view which pretends on one side that the clinical settings, described as potentially unpleasant, provides in every case a standardized context for observing the nature of child’s difficulties [7], and on the other gives great value to psychological tests, attempting to evaluate child’s perception of another person’s mental processes. The more known of them is ADOS-2, often accompanied by ADI-R, which involves interviewing parents. With this approach diagnoses of autism have become more frequent in a number of countries, and in parallel its prevalence has increased: in England it reached 98:10.000 [8], and in US as whole 278:10.000 [9], and up to 488 per 10.000, i.e., almost every 20th child, in Florida. In Italy a study on children aged 7-9 years gave a prevalence of 1.15% [10].
In this respect it must be underlined that approaches which neglect a gentle and sensitive attitude towards the child, can contribute to anxiety and suspicion, especially in children with delayed speech development [11], as well as in other developmental problems at this age, such as social communication disorder, selective mutism, attachment disorder, visual and hearing impairments.
Conversely, there are appropriate ways of obtaining precise clinical assessments in the framework of International criteria such as ICD-10 F84: evaluating the child in a setting where the dominant aspects are represented by the presence of what he likes: his parents and toys, which must be numerous and spread out in different places of a large room. This allows an adequante evaluation of the child’s spontaneous behaviour in relationships and communication. Waiting for the right time is also a win: for example, gentle communication with a child who exhibits social anxiety becomes possible if we wait until he feels relaxed and can therefore reveal his abilities and interests. In contrast semi-structured tests in some similar situations may well give numerous negative results, confuse the child and end into an incorrect diagnosis of ASD. It must be noted that in some cases, for example, with a very hyperactive boy, he can be esamined in another room where there are only a few obejects. In this respect, in this approach phantasy and close attention to child’s behaviour is the opposite of the monotonous delivery of semi-structured tests.
In a recent study, conducted with the criteria mentioned above, 127 children, who had been previously diagnosed as ASD in other centres, were seen by the author and had more benign diagnoses as speech delay, selective mutism, social anxiety and examples of autistic regression with positive evolution. As a result of the change in diagnosis and the use of new therapeutic approaches all of them improved in many aspects of their behaviour and some reached the normative level [12].
When we are dealing with an appropriate diagnosis of Autism, often accompanied by comorbidities like, for example, mental retardation we should try to support the emotions of parents. In some case, telling the mother that she has energies to support her child and make his life the best possible, can have along the years a favourable result, an example which may open the way to others.
PS For an extensive discussion of these topics see also M. Zappella ‘Autism: a diagnostic dilemma’ Neuroscience and Behavioural Physiology in the press.
