AUTISM AND ASD : MAKING AND SHARING THE DIAGNOSIS
This set of notes begins with a reminder about the core characteristics of autism or autistic spectrum disorder, with reference to the increased prevalence rates (linked to more sensitive diagnostic practices ?) and to the apparent range of aetiological routes. There follows a summary of a practitioner review concerning good practice in diagnosis with an implication for seeking increased provision to match the needs identified and a diagnostic "package" is described.
The final section summarises advice over the difficult question of if or how to share a diagnosis with the individual concerned, and with siblings, peers, and significant others.
As a useful reminder concerning the core characteristics of autism. one may quote Charman and Baird (2002) who set out the following features observable within all individuals diagnosed with autism:
They go on to describe how Asperger Syndrome, atypical autism, and pervasive developmental disorder (unspecified), are all regarded as related to autism and as forming that group of pervasive disorders that make up the autistic spectrum. The individuals concerned are a heterogeneous group, displaying variations in the number of symptoms and the severity of impairments. Asperger Syndrome is, for example, held to be a useful descriptive term, but it hardly provides a clear-cut category of needs.
These authors also refer to the reported prevalence of childhood autism, noting that, until around 20-25 years ago, prevalence was estimated to be around 4 or 5 per 10,000 births. However, they review a number of recent studies which have suggested prevalence rates may fall anywhere between 15 and 40 per 10,000. For the broader autistic spectrum, prevalence rates have varied between 16 and 21 per 10,000.
However converging evidence from the most recent studies (e.g. Bertrand et al 2001) would suggest that the overall rate of ASD may be as high as 40 to 60 per 10,000.
They suggest that a significant factor in this whole question is the increasing recognition that ASD may be observed in individuals with average (as measured) cognitive functioning; and that ASD may be co-morbid with a range of conditions such as Down Syndrome, cerebral palsy, Tourette Syndrome, Turner Syndrome, tuberous sclerosis, and sensory impairment. The lower estimates of incidence in the past may have resulted from a failure to recognise the significance of symptoms associated with ASD because of the focus of the concern on the already identified comorbid condition.
Still on the subject of prevalence, the study by Croen et al (2002) examined eight successive birth cohorts in California to determine whether the observed increase in identified ASD was a matter of more sensitive assessments and changes in diagnostic practices. They also looked at the trends in prevalence in the diagnosis of mental retardation without autism. They followed up over 5000 children who were diagnosed with full autism from a total of over 4.5 million births ... a prevalence rate of 11 per 10,000.
Over the course of the study, prevalence rates increased from a low of 6 to a high of 15 per 10,000, with no apparent influence from factors such as maternal age. ethnicity, education, child gender, or plurality.
During this same period, the prevalence of mental retardation without autism decreased from around 28 to around 19 per 10,000.
The authors interpreted these joint findings as suggesting that improvements in the detection rate and changes in diagnostic systems account for the observed increase in autism. This does not rule out the possibility of an actual increase in the incidence of autism, but there are no clear data by which to clarify this issue.
On a related theme, two recent studies have offered further thoughts on possible aetiological factors.
Firstly, Latifet al (2002) examined the prevalence of iron deficiency in children with autism and Asperger Syndrome (involving a sample of nearly 100 children with a clear diagnosis in one category or the other). This investigation was stimulated by the awareness that iron deficiency, with or without anaemia, can impair cognitive functioning or concentration span and limit affective responses as well as underlying mood changes. Their tests showed a significantly high prevalence of iron deficiency in children with autism, which was thought likely to compromise all the more their communicative and behavioural performance.
The second study, completed by Hultman et al (2002), concerned neonatal factors, associated with restricted intrauterine growth, as possible predictors of autism in the children. They examined over 400 children diagnosed with infantile autism and a large control group of normally developing children. They noted that the risk for autism was greater among those children described as small for gestational age and congenital malformations. No association was found between the risk of autism and head circumference, being a twin, season of birth, and maternal diabetes. The authors held that there was support for the possibility that a subgroup of children developing infantile autism suffer from intrauterine growth restriction, and are exposed to an enhanced risk of prenatal or neonatal asphyxia. They recognise that the underlying problem may be a function of genetic influence but also suggest that several of the findings could indicate a non-genetic and environmental mediation of risk.
It occurs to the present writer (MJC) to ask again whether one is dealing with a condition which has wide variation in its aetiology and expression or even with a range of conditions which share many symptoms but which may ultimately prove differentiable.
Early Diagnostic Practice
The practitioner review completed by Charman and Baird (opp.cit) begins by describing the factors underlying the decrease in the typical age at which children are referred for assessment and diagnosed with autism.
Firstly, there is the increased awareness among primary practitioners of the nature and symptoms of autism, and the issue of autism has been kept in focus as a result of much debate in the media and general press as well as in specialist journals.
Secondly, there has been increased effort prospectively to identify cases of autism through the use of screening instruments, with claims made about accurate diagnosis in children as young as 18 months. There is some evidence that screening among children referred because of concerns over developmental progress can result in greater understanding of their needs (although the instruments may not yet have sufficient power or sensitivity for use in general screening among whole cohorts of children).
Thirdly, there is converging evidence that early intervention may be a critical element underlying the success of intervention programmes. Access as soon as practicable to a structured approach, with communication skills as a prime target, has been agreed to be desirable whatever the underlying orientation of the programme.
In respect of identifying the specific and significant characteristics of children with autism during the first two or so years of life, the authors note the valuable source of information that has arisen through the use of home videos allowing behaviour and interactions to be examined in detail.
Adrien et al (1993) found that children with autism showed clear differences from normally developing children even during their first year. The impairments were observable in limited social interaction, lack of smiling or of changes of facial expressions, hypotonia, and poor attention. During the second year, additional impairments included ignoring other people, a preference for aloneness, and lack of eye contact and gesture and emotional expression.
A review of findings also reveals the significance for identifying children with autism of a failure to show or point to an object or to orient to their name, along with abnormal orientation to visual stimuli and an aversion to touch during the first year.
The critical areas include early pre-verbal social communication and social orienting behaviours, and the children with autism can be contrasted with normally developing infants who are usually able to respond to their name and to monitor gaze by the end of their first year. Similarly, during the second year, one would expect to see emerging signs of social interest and social orientation to familiar adults, and their absence is highly indicative of autistic spectrum disorder.
The combination of absent gaze-monitoring, pointing for interest, and simple pretend play, was found highly predictive of autism in the screening study of the Checklist for Autism in Toddlers (CHAT : Baron-Cohen et al 2000).
On the other hand, it is pointed out that isolated examples of pretend play, gaze switching, and imitative behaviour, would not rule out an ASD diagnosis.
In respect of parental observations, the following list (Filipek et al 1999) summarises the concerns which have been found significant for early diagnosis:
Does not respond to name
Cannot tell what (s)he wants
Language is delayed
Cannot follow directions
Appears deaf at times: seems to hear some times but not others
Does not point, or wave bye-bye
Used to say a few words but no longer does so
Does not smile socially
Prefers to play alone
Gets things for himself
Is very independent
Does things "early"
Has poor eye contact
Is in a world of his/her own
Is not interested in other children
Hyperactive / uncooperative or oppositional
Does not know how to play with toys
Gets stuck on things over and over
Has unusual attachments to toys
Lines things up
Is oversensitive to certain sounds or textures
Has odd movement patterns
"Absolute Indications for Immediate Further Evaluation"
No babbling by 12 months
No use of gesture (pointing, waving, etc ) by 12 months
No single words by 16 months
No two-word spontaneous phrases by 24 months
In respect of the kind of information that should be sought if a diagnosis of autism is to be made, Charman and Baird emphasise the importance of a multi-disciplinary approach involving psychiatrist and/or paediatrician, psychologist, speech and language therapist, and occupational therapist or physiotherapist.
The requirement is for a detailed developmental history, parental descriptions of everyday behaviour and activities of the child, and direct assessment of the child's social interactional style, communication, and cognitive functioning. Ideally, the observations should be undertaken in more than one setting, giving the opportunity for the child to be observed among children of the same age - at a playgroup or nursery, for example. This is important in any assessment of social behaviours because of the need to differentiate between the child's responses when among familiar people and following familiar routines and when in a situation involving unfamiliar circumstances and greater social "pressures".
The assessment should involve gaining examples of early social and communicative behaviours in both structured settings (formal testing using cognitive or language tests) and unstructured settings (observing the child in interactive play).
The use of structured interview schedules, such as the Autism Diagnostic Interview Revised (Lord et al 2000), are held to be helpful in producing systematic and detailed information from parents and carers. Little evidence exists concerning which tools are more valuable than others, but what matters appears to be some training and experience in the use of any given material.
A diagnosis of ASD may be confounded with general developmental delay associated with global or specific difficulties; or language delay or disorder, especially with regard to receptive language. However, differentiating features to help identify the autistic child include the a-social behaviours, the lack of pointing, imitation, and pretend play.
Overlapping or comorbid conditions include ADHD, D.A.M.P., and oppositional behaviour (including resistance to change and anxiety in some situations). Eating and sleeping problems may be quite common among young children, but are seen to a more extreme extent among the autistic children.
Dyspraxic and autistic symptoms may overlap, although it is reported that a majority of children with autism will have coordinatory problems, and tactile defensiveness may be an additional symptom.
Distinguishing between ASD and receptive language impairments is difficult. There is evidence that children with a specific language impairment have problems in processing not only language but also other kinds of information, and may also prefer to stick with familiar routines and show limited imaginative play or peer interaction. However, the child with autism is likely to show additional and specific impairments in social communication willingness to share, pointing, eye gaze, gestures to regulate attention, and changes of facial expression.
Meanwhile, there is evidence highlighting how a significant minority of children with autism (between 15 and 30%) show a halting of development and even a downturn in performance between 15 and 19 months, most readily observed in the use of expressive language and in a withdrawal into a private world with less gaze monitoring and responsiveness to speech. Repetitive play behaviours may increase, and sleeping and eating patterns may be disturbed.
No clear explanation is forthcoming about why this regression is shown in some children but not in others, but there has been speculation about a link between this regressive autism and bowel disorder. The possible significance of the MMR vaccination is still debated, despite the converging evidence that no causal relationship with autism exists.
However, it is possible that the regression has a medical basis, and reference is made to the need to investigate the possible significance of sub-clinical epilepsy (although there is no consistency with regard to the frequency of regression among children with and without these epileptic complications, apart from a finding that epileptiform activity during sleep, and measured by EEGs, is more common among the children who show regression).
There is some concern about the accuracy and stability of an autistic diagnosis in the pre-school years, and there is a need to minimise the number of false positives given the stress and anxiety that may be experienced by the parents. However, Gillberg et al (1990) reported on 28 children referred with possible autism of whom 21 were actually diagnosed, and all but one of the children were confirmed with the diagnosis at follows up after 6 months and 140 months.
A similar finding is reported by Lord (1995) in respect of the appropriateness of a diagnosis among a sample of 2-year old children, with the accuracy attributed to the use of a variety of assessment tools plus information from various sources, coupled with a high level of experience/expertise in the diagnostician.
Diagnosis of the broader range of ASD is not so reliable, with children towards the less severe end of the autistic spectrum more likely to be misdiagnosed with developmental or language delay.
Meanwhile, it is noted that repetitive and stereotyped behaviours, and restricted patterns of interests were identified less consistently in the second and third years than among children of 4 or 5 years. It is speculated that at least a subgroup of children with ASD only demonstrate these symptoms after infancy, and at a later point than the social and communication deficits are apparent.
Finally, reference is made to the way in which an early diagnosis might best be shared with the parents. It is recognised that, even if parents have observed developmental or behavioural anomalies in their children, a discussion of possible autism may raise concerns at a much more serious level. Charman and Baird advise, therefore, that initial discussions would usefully focus upon the subtleties of non-verbal social communication and possible delays or disorders therein, thus helping the parents to recognise specifically autistic behaviours.
The advice to professionals is to allow the parents time to consider the initial feedback and to avoid pressing their own views too forcefully. A second consultation, after the parents have had time to think about the implications and to review their own observations of the child, is recommended.
It is pointed out that the clinical picture of a young child will change over time. and diagnostic opinions may be refined with experience as more information becomes available about the child ... perhaps from more specifically focused observations. This being so, the use of a working diagnosis may be helpful.
Further, caution is required if prognosis is to be discussed. The performance and progress of the child will be influenced by the nature of the intervention (structure, focus, and intensity) and by the speed at which the intervention can be implemented after the diagnosis. Accordingly, a discussion of likely outcomes would be informed by observing rate of progress in response to specific strategies and to the various stimuli or environments to which the children are exposed.
The authors conclude that two major implications emerge:
Firstly, all primary healthcare staff and professionals working directly with young children, such as health visitors, playgroup leaders, etc., need training to be aware of the early signs of possible ASD, and of referral procedures. A clear route towards multidisciplinary liaison is necessary, coupled with agreement over assessment approaches and responsibilities so that maximal information can be shared but duplication and redundancy avoided.
Secondly, whether diagnostic practices are more sensitive and efficient, or whether there are actually more children with ASD, (or both), it is clear that resources are at best patchy and somewhat stretched, and at worst quite insufficient to meet the increasing demands. The need is for the consistent provision of coordinated diagnostic, therapeutic, and educational services for pre-school children with ASD and their families.
A Diagnostic Package
Christie and Chandler (2002), based in an early years autistic diagnostic centre, describe the work involved in developing and evaluating a diagnostic (and interventionist) schema for very young children with autism.
Their guiding principles included:
In respect of the first point, reference is made to the work of Howlin and Moore (1997) in highlighting how almost all members of a large sample of parents of young children with autism recognised significant problems in their children during the first 2 or 3 years of life; but diagnoses were typically not made until after the child's fourth birthday.
There are also cited the commonly heard concerns of parents about being left in a state of uncertainty after a diagnosis but before any action ... with the perceived limitation of pre-school services perhaps linked to the parental attraction towards home-based programmes such as the Lovaas intensive behavioural approach.
The current research started from a belief that the core issue in autism is the impairment in the pragmatics of language (the lack of social empathy, shared understanding, etc.) with the corresponding need to identify ways in which the child can be enabled to engage in these reciprocal exchanges, including via physical play, or songs and music.
The package involves an initial home visit to gain basic information about the child and to arrange a play-based diagnostic assessment. The psychologist and the child subsequently meet and play together in a specially adapted room enabling observations to be made of the child's language and communication, reciprocal play, and problem solving. The parents are also able to observe these interactions via a one-way window while discussing the child's history and present performance with the consultant leading the assessment team. Checklists concerned with pre-verbal and pragmatic language are also completed.
Weekly 2-hour visits follow in which the psychologist works with the child and alongside the parent(s) in structured play sessions, discusses parental concerns, and assists in the planning of objectives and strategies. The emphasis continues to be on reciprocal play, receptive language, and expressive language; and the parents can also attend 8 weekly workshop sessions to supplement information and planning.
Regular access to feedback from the parents, and to comments from the professionals involved, led to the identification of those components of the package seen as critical. They were as follows
(Further comments referred to the desirability of the sessions being held at home - seen as the best environment for the child and where break-throughs are most likely - coupled with the opportunity afforded the psychologist to gain an overview of the child rather than an occasional "snapshot".)
When asked how other services could be improved, parents most frequently referred to
(Further comments highlighted the frustrations associated with a lack of information in the first place, with nobody seen to be available to take time to define the problems. Further, intermittent and centre-based consultations were seen as unconducive to building relationships; and advice about provision outside the home was at odds with the [limited] ideas about how to foster progress through home activities.)
With regard to the workshops, parental comments frequently referred to the value of contact with other parents, and to their appreciation of access to "more theoretical" or generally broader knowledge of autism.
The authors summarised the findings and concluded that there were 4 features seen to be crucial for the development of viable services for parents of pre-school children with autism:
1. The integration of diagnostic and support services. There is a need for support rapidly to follow the diagnosis and for a clear link to be demonstrated between the defining criteria of that diagnosis and the nature of the supportive strategies.
2. Flexibility of approaches in order to allow for the child's particular needs and those of the rest of the family, while seeking to apply the strategies initiated in structured play sessions to everyday situations (such as mealtimes) so that the input can be consistent.
3. Providing support at home on a regular basis. The object is that of enabling the child to practise communication skills in a secure and familiar setting, and of ensuring ongoing parental access to practical advice.
4. Complementing individual targeting and interventions with parent workshops. The value of the workshops is not only a matter of sharing ideas and good practice but also of emotional support, avoiding the risk of feelings of isolation during the time immediately after the diagnosis.
With the experience of the "Early Bird" Project still fresh in mind, the present writer - MJC - would comment that the elements of any programme perceived as particularly attractive appear likely to include the provision of direct action rapidly after diagnosis, the involvement of the parents in those actions, and the opportunity given to parents to meet and share experiences or information with similarly-placed others. It occurred to him previously that, whatever the actual intervention, parents express very positive thoughts about the programme to which they gain initial access... be it a programme like that described above, or Early Bird, or Options, or Lovaas, etc. ... presumably because there is left no gap between the diagnosis and the actions designed to address the needs identified.
One possible problem may arise if the programme is relatively short term and a gap in provision occurs before the child is found an appropriate school place; or if there are some doubts lest the programme is not the most suitable to fit the child's needs or circumstances but if there is anxiety about altering the arrangements established. The concept of a genuine choice of early-years provision is relevant, alongside the continuing need to determine criteria by which to match children to a given approach, or to ensure a flexibility within any approach.)
Sharing the Diagnosis with the Individual with ASD
Jones (2001) describes how there has been very little written about the sensitive issue of how to go about giving the diagnosis of Asperger Syndrome or high functioning autism to the young person concerned.
It is recognised that there is no uniquely desirable way to do this given differences among the individuals concerned and their families, although Jones' collating of the views of a sample of people with ASD has highlighted some common issues; and it is held that, for any case, there must be a debate among family members and professionals concerning whether the diagnosis should be given; and, if so, by whom, when, and how.
It is suggested that giving a diagnosis to individuals functioning at the higher end of the autistic spectrum is important because they are likely to live and work independently and need an awareness of their own style in order to develop problem solving strategies and to be able to describe the nature of ASD to other people. In general, therefore, better outcomes are likely to result from giving the diagnosis as early as practicable.
An immediate implication is for raising the awareness of staff in mainstream schools in respect of the symptoms of ASD and of referral routes for assessment and advice.
While it is acknowledged that an initial reaction to the diagnosis on the part of someone with ASD might involve feelings of anger or denial, there are various benefits in sharing the diagnosis. These include:
In sum, the experiences of this sample of people with ASD indicate a preference for knowing the diagnosis which provides a means of understanding the various symptoms as opposed to an ongoing anxiety about being different but failing to know why. There was also a common experience that, in the absence of an "official" diagnosis, significant others would make their own unofficial diagnoses such as "emotionally disturbed" while peers would attach a label like "weirdo" etc.. Alternatively, the individuals might have been fobbed off with bland denials of any difficulty or might even have been given blatant untruths, when a common view expressed by the individuals with ASD concerned the value of knowing the actual situation. Jones quotes one person directly as follows: "...... One of my strongest defences against all my disabilities is the awareness of exactly where my problems lie".
Further. it is argued that a failure to share the diagnosis brings the same disadvantages as a very late diagnosis (with regard to negative self image, social problems, etc.) and that, even if the initial reactions do reflect anger or stress, it does not necessarily follow that it was wrong to share the diagnosis.
On the other hand, the individual concerned might usefully be cautious about with whom (s)he discusses the diagnosis and the nature of ASD in order to avoid a situation where other people constantly want to talk about ASD or to seek signs of ASD behaviour.
In respect of the decision to give the diagnosis to the ASD individual, Jones offers a number of questions to guide the decision-making
While there is no set age that is right for a discussion of ASD, the experience of Wilkner Svandfelt et al (2000) suggests that it is around 9 years of age that children start to ask questions about their behaviour or feelings or there may be some stimulus, such as a TV programme, which prompts such questions and which provides the opportunity to broach the discussion.
The major responsibility for the discussion and sharing of diagnosis rests with the parents/carers, but would usefully follow discussion with professionals. One thing to avoid is the unexpected giving of the diagnosis, by a professional, to parents in the presence of the child or young person. The parents need to come to terms with the situation in the first instance.
Parents/carers need also to decide how and when to share information with other children in the family. Certainly one would wish to avoid any misunderstanding to be maintained or some distance to grow between the individual with ASD and the siblings. The implication is that the siblings will be aware of the unusual style of their brother/sister and would usefully be given as full answers as appropriate to the questions posed.
Similarly, the siblings would usefully be given advice or model answers in order to know how to respond to questions (or teasing) from other children or young people about the behaviour/style of their autistic brother or sister.
In this regard, there needs to be some discussion whether there are likely to be benefits from a more general sharing of the diagnosis with other pupils in the class, or fellow students at a college, or colleagues in the work place. Parental opinion, and permission if appropriate, are the basic requirements. Even if ASD is not specifically mentioned, there could be benefits from discussing the kinds of behaviour and individual differences; but sensitivity is the key-word if one is to avoid any risk of further distancing the individual with ASD from peers.
Meanwhile, parents may benefit from professional support when specifically raising the diagnosis of ASD after a long period of answering questions or offering advice without actually mentioning ASD. Perhaps the discussion could involve parents and professionals jointly, or advantage could be taken of groups run both for individuals with ASD or for siblings at which the diagnosis can be discussed.
A useful framework for individual support with the young person with ASD is that of cognitive behaviour therapy where the emphasis is upon examining actual situations and upon (reframing ) the individual's response.
In conclusion, Jones restates how parents or carers need to come to their own decision about if or how to share the ASD diagnosis with their son or daughter; but reference is made to the accounts of people with Asperger Syndrome or high functioning autism who have discussed their own experiences which commonly convey the strong belief that knowledge of their own ASD has been vital.
M.J.Connor August 2002
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© Mike Connor 2002.
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