Diagnosis & the future

How is a diagnosis made—and what are the criteria?

There are no medical tests which lead to a diagnosis of autism. For any child, the professionals involved need to reach a conclusion about the types of difficulty that are experienced, their severity, and the overall pattern. It is also essential to assess and take account of other difficulties that may be present. The overall picture will also need to be put in the context of the child’s previous experiences and opportunities for learning. An element of professional judgment (and a degree of subjectivity) is very difficult to avoid.

Ideally, conclusions need to be based on a wide range of information from a variety of sources: a description of the child’s early development and current patterns of behaviour provided by parents; observations of the child, preferably across a range of situations; reports from others involved in working with (or assessing) the child.

The recognised systems of criteria describe the features that need to be present for a diagnosis to be made—they specify the range, the type and the severity of difficulty. However, it is important to be aware of the following points:

  • There is quite a lot of room for individuals to interpret these criteria in different ways. Each system includes examples of the ways in which a particular difficulty might be revealed. However, these are only examples, rather than being complete descriptions of all the ways in which the underlying difficulties can show themselves.
  • When these ‘official’ systems are used, a particular degree of severity must be shown for a diagnosis to be made. The guidelines use phrases such as ‘marked impairment’, ‘failure adequately to use’ or ‘delay in’. Interpreting these phrases still leaves quite a lot to the professional judgment and experience of the individual.
  • An added complication is the fact that many (but by no means all) professionals working in this area feel that the ‘official’ systems are too ‘narrow’. Their view is that people with even very mild and subtle difficulties in each of the 3 core areas of impairment should be recognised as having an autistic spectrum disorder—this is often referred to as the ‘broad’ spectrum. Part of the increase in the levels of diagnosis that has taken place in recent years has been due to this broadening of the boundaries.
  • Unfortunately, these boundaries are still quite ‘fuzzy’. The situation is even more complicated because it is generally felt that autistic spectrum disorders shade gradually into other forms of communication difficulty. Some people also think that autistic spectrum disorders gradually merge into the ‘normal’ range of variation in personality and temperament. Any ‘cut-off’ point on what is basically a continuum must be somewhat arbitrary: two individuals on either side of the ‘cut-off’ are bound to have a huge amount in common.

In Northamptonshire most professionals involved in this area of work think that it is important to recognise the broader spectrum. This does mean that more children are recognised as having an autistic spectrum disorder. However, it does also mean that there is more scope for differences of opinion between different professionals about exactly where the line should be drawn. Although there has been a lot of work to ensure greater awareness of the broader spectrum, and to establish higher consistency, until there are clearer and more precise guidelines some ‘fuzziness’ is unavoidable.

Why does diagnosis take so long—why did it happen so late?

On average, the age at which children are diagnosed has fallen steadily over the last 10 years. There is now much greater awareness of more typical forms of autism, and increasingly of the broader spectrum. There is greater awareness of early warning signs that may be apparent in children as young as 18 months. So why, in some cases, does diagnosis seem to take so long, or take place at such a late stage?

  • The core difficulties (‘the triad’) can be shown in many very different ways. Recognition of the broader spectrum is relatively recent and, as explained above, is still somewhat controversial. The more subtle and mild forms of difficulty may not be recognised as significant—or may not be seen as sufficiently severe to warrant a diagnosis (especially if either of the 2 main diagnostic systems are used).
  • Reports or observations of the child’s behaviour across a range of settings, and over time, may not be available. Detailed information about the child’s early development is particularly important.
  • It is common for autistic spectrum disorders to occur alongside other difficulties. It can be especially difficult to distinguish severe learning difficulty or language disorder from autism-especially in a young child. Other sorts of problem such as epilepsy, sensory difficulties or various medical conditions and syndromes may make it hard to see problems resulting from autistic spectrum disorders. Alternatively, these other conditions may be treated as explanations for problems that are actually the result of autism.
  • The way in which the child’s problems are displayed may well change with age—and will depend particularly on the extent of any learning difficulties. Judgments are needed about some quite subtle social and communication skills. Some of these skills and abilities only appear later on in children who are developing normally. Reaching a conclusion about how (or whether) these skills are developing may mean waiting until a comparison can be made with others who are developing these skills in the normal way.
  • The skills a child has learned, and the environment he or she is in, will affect the extent to which any difficulties are displayed.

Deciding whether a child has or has not got an autistic spectrum disorder is a complex task. It is extremely important to come to the right conclusion. It may be necessary to monitor the child’s progress over a period of time. The way the child responds to teaching and therapy may also shed light on the nature of his or her difficulty. It is also usually necessary to get the opinion of other professionals about other aspects of the child’s development. All this inevitably takes time -but for this reason, it is also vital that any avoidable delays are kept to a minimum.


International Classification of Diseases (ICD-10) issued by the World Health Organization DIAGNOSTIC CRITERIA FOR AUTISM DISORDER (ICD-10) (WHO 1992)

At least 8 of the 18 specified items must be fulfilled.

a. Qualitative impairments in reciprocal social interaction, as manifested by at least three of the following five:

  • failure adequately to use eye-to-eye gaze, facial expression, body posture and gesture to regulate social interaction.
  • failure to develop peer relationships.
  • rarely seeking and using other people for comfort and affection at times of stress or distress and/or offering comfort and affection to others when they are showing distress or unhappiness.
  • lack of shared enjoyment in terms of vicarious pleasure in other peoples’ happiness and/or spontaneous seeking to share their own enjoyment through joint involvement with others.
  • lack of socio-emotional reciprocity.

b. Qualitative impairments in communication:

  • lack of social usage of whatever language skills are present.
  • impairment in make-believe and social imitative play.
  • poor synchrony and lack of reciprocity in conversational interchange.
  • poor flexibility in language expression and a relative lack of creativity and fantasy in thought processes.
  • lack of emotional response to other peoples’ verbal and non-verbal overtures.
  • impaired use of variations in cadence or emphasis to reflect communicative modulation.
  • lack of accompanying gesture to provide emphasis or aid meaning in spoken communication.

c. Restricted, repetitive and stereotyped patterns of behaviour, interests and activities, as manifested by at least two of the following six:

  • encompassing preoccupation with stereotyped and restricted patterns of interest.
  • specific attachments to unusual objects.
  • apparently compulsive adherence to specific, non-functional routines or rituals.
  • stereotyped and repetitive motor mannerisms.
  • preoccupations with part-objects or non-functional elements of play material.
  • distress over changes in small, non-functional details of the environment.

d. Developmental abnormalities must have been present in the first three years for the diagnosis to be made.


Asperger syndrome was originally described by Hans Asperger 1944. But this syndrome was not well known for many years. This situation has changed somewhat since Asperger syndrome was made “official” in DSM-IV (APA, 1994) fifty years later, following a large international field trial:

From the DSM-IV (Diagnostic And Statistical Manual Of Mental Disorders, 4th edition, 1994)

Diagnostic Criteria for 299.80 Asperger’s Disorder

A. Qualitative impairment in social interaction, as manifested by at least two of the following:

1. marked impairments in the use of multiple nonverbal behaviours such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

2. failure to develop peer relationships appropriate to developmental level

3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest to other people)

4. lack of social or emotional reciprocity

B. Restricted repetitive and stereotyped patterns of behaviour, interests, and activities, as manifested by at least one of the following:

  • encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
  • apparently inflexible adherence to specific, nonfunctional routines or rituals
  • stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
  • persistent preoccupation with parts of objects

C. The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning

D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years)

E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behaviour (other than social interaction), and curiosity about the environment in childhood

F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia

 


 

My child has recently been diagnosed with ASD. My feelings are in turmoil.

Diagnosis is only of value when it is not just a label but a passport into accessing all the necessary support services that each individual needs” (Baron-Cohen 2008)

Naturally, receiving the news that a child is to be given a diagnosis of an ASD can be a very difficult time for families and it is important to consider the factors that may help to make this process less difficult for parents and families. The following factors have been found to be particularly important: the approachableness of the clinician and the degree to which they understand the parents’ concerns; the sympathy of the clinician and the directness and clarity of the communications from the clinician (Quine and Rutter 1994). Equally important may be considerations about giving families news of a diagnosis in an appropriate location such as a quiet, private room, making sure that clinicians set aside sufficient time to spend with families having given a diagnosis and also ensuring that families have access to immediate sources of support. Each person and family will be different as to how they react to and how quickly they adjust to the news that a child has been given a diagnosis of ASD.

It is important to remember that for some families, receiving a diagnosis may also, in part, provide some relief as they may have waited a long time for a diagnosis. They may also be relieved to finally be given a name for a condition which has made them feel for some time that they or their child is in some way different. It can also be the point at which families are signposted towards supportive services and put in touch with other families with similar experiences (Baron-Cohen 2008). However a diagnosis can also elicit a wide range of feelings which may be more difficult to manage. Initial reactions are likely to be shock or denial and families may struggle to take in the information which they are being given. This shock may, over time, turn to sadness when families face a future which may be very different from the one they had imagined for their child (Baron-Cohen 2008).

The process of adjustment to a diagnosis of ASD has been likened to a grief process in which parents and families experience a range of different emotions over time as they gradually come to terms with the situation (Carr 2006). Such emotions may include anger and a sense of injustice and parents may even feel anger towards themselves or each other, which understandably can be very difficult to acknowledge. Parents, in particular, can sometimes incorrectly blame themselves as they attempt to understand why a child may have an ASD. Following feelings of shock and anger, families can subsequently experience tremendous feelings of sadness as previously described. Having gone through all of these different emotions, the final stage for families may be one of acceptance in which they are able to acknowledge that theirs and their child’s life may be different from that which they had expected (Carr 2006). Of course, all families are different and may respond to diagnosis in different ways and this way of thinking about reactions to diagnosis won’t fit with everyone’s experience. Equally, even once families feel that they have come to terms with a diagnosis, things can happen which sometimes lead them to feel as they did in the very early stages of adjustment. The most important thing to remember is that all of these feelings are very natural and normal in response to receiving a diagnosis and it is important to feel able to acknowledge and to talk about these feelings. It is also important that that families do not feel alone with these sometimes very difficult emotions and that they maintain and make use of sources of support such as friends and extended family.

Such sources of support are helpful not only in terms of helping families to cope with the initial news of a diagnosis, but also in the longer-term to help with some of the possible challenges of living with a child with ASD.

In addition to the difficulties experienced by parents following a diagnosis of ASD it is also of course important to remember that both the news of a diagnosis and subsequent life with a child with an ASD can also be difficult for brothers and sisters of that child. Clinical experience has shown that brothers and sisters can sometimes feel that they do not get as much attention at home and can also struggle to live with and understand some of the more difficult behaviours which can be presented by a child with ASD in the home. Brothers and sisters can also experience anxiety about the well-being of their parents and can sometimes seek to assume some responsibility for looking after their sibling. In general, clinical experience has shown that siblings benefit from being given easily understandable information about the diagnosis which helps them to understand some of their sibling’s behaviours, having their feelings heard and acknowledged and where possible, having a small amount of time alone with one or both parents and being reassured that it is okay to pursue their own interests.

In summary, receiving the news that a child has an ASD can understandably be a very difficult time for families and can elicit a whole range of emotions, some of which may be very difficult to acknowledge or cope with. It is important that families (including siblings) are given an opportunity to talk about those feelings if they want to and that they are given helpful and accurate information, both about the diagnosis and support services to help them to come to terms with the situation. It is also important to remember that the process of coming to terms with a diagnosis of ASD is an ongoing one and as a child grows and enters into different stages of their life, families may face new and unexpected challenges which require consideration, adjustment and may once again elicit difficult emotional responses. Living with a child with an ASD can present a number of challenges for families and it is also important for parents and siblings to acknowledge and look after their own needs, as well as those of the child with a diagnosis of ASD, in order to help them to cope with some of those challenges.

References

  • Baron-Cohen, S. (2008) Autism and Asperger Syndrome: the facts. Oxford University Press.
  • Carr, A. (2006) The Handbook of Child and Adolescent Clinical Psychology: A contextual Approach. Routledge.
  • Quine, L. & Rutter, D. (1994) First diagnosis of severe mental and physical disability. Journal of Child Psychology and Psychiatry, 35, 1273-1289.
  • National Autistic Society website, www.nas.org.uk

Our grateful thanks go to Dr Lisa Kemp, Clinical Psychologist based at the CDC in Northampton General Hospital for contributing this article.


For Adults – I think I may be on the autistic spectrum. How do I go about getting a diagnosis?

This is a very personal decision. Perhaps you could ask your self some questions?

  • Do I have evidence of symptoms and behaviours that lead me to believe that I have an ASD?
  • Do these include problems with social communication, social understanding, imagination (might include rigid routines, distress when things change, problem sequencing tasks)?
  • How much is ASD affecting my life?
  • What advantages will I gain from an official diagnosis?

Some people find that they are happy with a self-diagnosis. Others decide that they require an official diagnosis.

  • Some decide to have an official diagnosis because it may;
  • Help them to understand themselves.
  • Gain some understanding from others.
  • Help them access services.
  • Help to get or keep a job. (With a diagnosis of ASD you will be classed as having a disability under the Disability Discrimination Act 1995; if you choose to share the information with your employer you should receive understanding and tolerance.)
  • Give access to benefits.

The ADHD and Asperger’s Team

The ADHD and Asperger’s Team (formerly the Transition and Liaison Team) provides a diagnostic service and short-term post-diagnostic support service to adults with Asperger’s Syndrome (and other developmental conditions i.e. ADHD and Tourette’s Syndrome), but also supports those with an existing diagnosis, especially during the period of transition to adulthood.

The service focuses on several key areas including: interventions to reduce social isolation and mental health difficulties; development of independent living skills and relationships; a range of appropriate supported housing options; better social and academic support and learning opportunities during transition and in continued education; improvement in employment opportunities and support and better post-diagnosis emotional support.

If someone thinks they may have Asperger’s Syndrome, or if they are already diagnosed but want some help or advice, then a referral needs to be made by your GP – self-referrals are not accepted. You need to ask your GP to write a letter to the ADHD and Asperger’s Team or to complete and send a referral form. The ADHD and Asperger’s Team is a countywide service and appointments are arranged in various clinics across the county. Unfortunately, due to the many referrals that the team receives there is currently a 6 to 7 months waiting time for appointments.

Referrals need to be sent to:

ADHD and Asperger’s Team St.Mary’s Hospital London Road Kettering Northants NN15 7PW Tel 01536 494824

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