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Week 3: Identifying and diagnosing autism
Introduction
This week starts with the earliest years of a child’s life, when there may be subtle clues that a child is developing differently. Video clips illustrate what parents notice, and include some parents’ reflections on getting their children diagnosed in the 1960s. The two main current diagnostic systems are introduced, followed by clips providing parental and personal experiences of diagnosis. The week ends with a look at two key challenges for diagnosis: different presentation of autism in females, and diagnosis in world cultures with differing expectations about typical behaviour.
Now watch the video in which Dr Ilona Roth introduces this week’s work.
By the end of this week you should be able to:
- describe behaviour in the first 2 years which may provide early indicators of autism
- appreciate the contributions made by parental accounts
- recognise internationally used diagnostic criteria and broad principles of diagnostic assessment
- appreciate different reactions to diagnosis
- understand challenges to diagnosis posed by gender and cross-cultural differences.
1 Early clues to autism
It is generally considered that autism cannot be reliably diagnosed before the age of 2 years. However, for some children later diagnosed with autism, parents report subtle differences from typical developmental milestones during the first year of life, such as delays in sitting up or walking (Chawarska et.al., 2007), or say that their child did not enjoy cuddles, or was difficult to feed or to comfort (Young, Brewer and Pattison, 2003).
1.1 Birth to 12 months
Where parents are recalling their child’s first months, their memories may well be influenced by the child’s subsequent diagnosis. They may reinterpret particular behaviours that did not cause concern at the time. For this reason, a family’s home videos of their child’s first months are invaluable for retrospective research, as direct observations of the child can be made. In one such study, researchers applied an observational method (see Week 1) to extracts from home videos loaned by parents, exploring whether infants later diagnosed with autism showed as much interest in people as a typically developing (TD) control group of children (Maestro and Muratori, 2008). Infants aged 0–6 months who were later diagnosed were less likely than TD children to look, smile or make sounds to people. From 6–12 months the infants later diagnosed became more likely to look, smile and talk to objects than to other people, and although they did also show increased reactions to people, this remained at a lower level than the TD infants.
1.2 12 to 24 months
It is often in the second year of life (12–24 months), when language, communication and play are beginning to take off in TD children, that important differences start to emerge, and are picked up by parents. They may notice difficulties with speech and language development, apparent indifference to others, dislike of change, or eating and sleeping issues. They may also notice that the child plays unusually, for instance repeatedly tipping bricks out of their container and then putting them back, rather than building with them. These possible signs may be particularly evident in children later diagnosed as ‘lower-functioning’. The more subtle symptoms of ‘high-functioning’ autism may go unnoticed for much longer, especially if, rather than showing developmental delays, a child seems particularly precocious. For instance, some parents report that their child showed strikingly early skills in reading or naming things.
Between 12 to 24 months, children subsequently diagnosed with autism may show little response to what is said to them (known as difficulty with
Also in this second year, children subsequently diagnosed with autism may show little
1.3 Can typical development plateau out?
Some parents report that their baby seemed to be developing perfectly normally, until at some point (typically during the second year) this development seemed to ‘plateau out’ or even go backwards. In the past this pattern was thought to reflect a specific ‘regressive’ form of autism. Some experts no longer accept this view, arguing instead that most infants later diagnosed with autism undergo early subtle changes in the speed and direction of development, which may include the loss of previously acquired skills (Dobbs, 2017). These different views are still not reconciled.
1.4 Parents’ reflections on their children’s behaviour
In the following activity, video clips will show parents' observations of their children's behaviour.
Activity 1 What parents noticed
Watch the following video clips from The Autism Puzzle (2003), in which parents and family members, some whose children were diagnosed in the 1960s, and others from recent years, talk about their children’s behaviour in the first few years. List some key behavioural features mentioned for each child.
Discussion
Key behaviours and problems noted by parents include:
Timothy Baron: initial pre-speech sounds disappeared; odd way of looking at mother.
Susan Wing: socially remote; did not look straight at people or pay attention to them; screamed, was ‘difficult’ and did not sleep; repetitive behaviours.
David Braunsberg: no communication; rejected solid foods; active and ‘difficult’; still in nappies at 4.
George Moore: initially seemed bright, advanced and attentive to everything; was early to smile, speak, stand and walk; liked stories, had excellent memory for words and phrases; language use quaint or unusual; sleep problems.
Acis: language developed late; would not look at his Mum or point; appeared indifferent to sounds including others talking to him.
Harry: obsession with wearing the same pyjamas; wouldn’t tolerate anything different.
As this activity shows, there are both similarities and differences in what parents notice. For some parents sleep problems, inflexibility or just ‘difficult behaviour’ stood out, while for others, it was differences in attention, looking or language. Two parents, Michael and Charlotte, thought that their child had regressed. Notice that despite his earlier language delay, 8 year old Acis is a very verbal child.
2 What is diagnosis?
As you have seen, some parents develop early and well-founded concerns about their infant’s development. Specialist assessment is important, even if this serves to rule out autism. The fact that a child is, for instance, late in developing language, shy, or plays in an unusual way does not necessarily mean that the child has autism. By contrast, some parents may notice nothing unusual about their child’s development until he or she goes to school, when teachers report that the child is troubled by the presence of other children, by the physical environment of the school, or in other ways. Parents in this situation may be surprised and shocked that autism is suggested as a possible basis for their child’s difficulties. Some individuals are well into adulthood, feeling perhaps different from others, but not knowing why, before they are formally diagnosed. Finally, it is thought that many individuals in countries like the UK have undiagnosed autism, and in many
2.1 The role of diagnosis
Early diagnosis is highly desirable, as early intervention has been shown to help improve social and communication skills. However, even at 24 months, when some parents can be fairly certain that their child is developing differently, healthcare professionals may not give parents’ concerns the importance they deserve. And when referrals are made there is often, unfortunately, a long wait before assessment and diagnosis.
2.2 DSM-5, ICD-10 and ICD-11
Diagnosis, whether of a physical or psychological condition, involves comparing an individual’s symptoms with
There are two main official sources for autism diagnosis, the
As you learned in Weeks 1 and 2, autism involves ‘social’ and ‘non-social’ characteristics. How these are used as the basis for diagnosis depends on which diagnostic system is used. ICD-10 (the tenth version of the ICD) was introduced in 1992 (WHO, 1992) and reflects thinking about the autism spectrum at that time, including some ideas that may be familiar, such as considering Asperger syndrome a separable sub-type of autism. DSM-5 (the fifth version of the manual) was introduced in 2013 and reflects more recent thinking, including the removal of Asperger syndrome as a separable sub-type. It is important to understand the evolution from ICD-10 to DSM-5. At the time of finalising this module, both remain in operation. The details of ICD-11 were released in June 2018. After presentation to WHO member states in 2019, it will come into use in 2022. It will mirror DSM-5 in most key respects but includes some different features which are being viewed as improvements (Zeldovich, 2017). Table 1 summarises the key differences between ICD-10 and DSM-5, with some additional notes on ICD-11. For all autism diagnoses, an overarching criterion is whether the observed symptoms are sufficient to undermine the individual’s functioning in everyday life. A clinician may decide, for instance, that a person’s mild problems of social communication, and slightly repetitive behaviours and interests are not sufficiently disruptive to merit diagnosis.
| ICD-10 | DSM-5 | Comments | |
| What are the possible diagnoses? | Three different autism subtypes: Childhood autism; Asperger syndrome; Pervasive developmental disorder – unspecified (information insufficient to diagnose autism or Asperger syndrome). |
A single diagnosis: Autism spectrum disorder. |
In ICD-10, the ‘spectrum’ is divided into three subtypes. DSM-5 has relinquished subtypes such as Asperger in favour of a single continuous spectrum, reflecting the variability of symptoms and how they are expressed. ICD-11 mirrors this DSM-5 approach, but does differentiate autism with and without intellectual disability. |
| What are the main types of symptom? | Three: Problems in: 1) communication 2) social interaction 3) restrictive, repetitive activities and interests (RRBIs). |
Two: Problems in: 1) social communication 2) restrictive, repetitive activities and interests; sensory difficulties. |
DSM-5 and ICD-11 both merge communication and social interaction into one social communication symptom cluster. Clinicians had found it hard to categorise symptoms as either, as the difficulties are interrelated. For instance, if a child has limited language (a communication problem) this will almost inevitably limit social interaction. |
| By what age must symptoms have appeared for diagnostic criteria to be met? | For childhood autism (but not for Asperger syndrome) ‘functional impairment’ in social interaction, or in language use for communication, must have appeared by age 3 years. | Social communication difficulties and RRBIs must have been present in early childhood; however, ‘functional impairment’ need not be apparent till later. | DSM-5 criteria accommodate cases where early childhood symptoms only become apparent later than 3 years of age. This allows for what was formerly Asperger syndrome within a continuum of different developmental profiles. |
| Sensory problems are common in autism: how are these represented in the criteria? | The ICD-10 criteria do not include sensory problems as a formal criterion. | DSM-5 includes sensory hyper/hyposensitivities as part of the ‘non-social’ RRBI cluster of symptoms. | The evidence that sensory difficulties occur in a majority of autistic people, convinced the DSM-5 working groups to include them as a diagnostic criterion. ICD-11 has done the same. |
| How are differences in symptoms and severity represented in diagnosis? | Mainly through use of the three sub-diagnoses. |
Evaluation of severity (level 1, 2 and 3) is an integral part of the diagnosis. |
The DSM-5 severity scores should help clinicians to avoid the confusing informal terms ‘high-functioning’ and ‘low-functioning’. |
| How are additional problems beyond the main symptom clusters represented? | In ICD-10, problems such as epilepsy or dyslexia would be noted as clinical features beyond the main diagnosis. | In DSM-5, problems such as epilepsy, dyslexia or intellectual disability are combined with the individual’s diagnosis as ‘specifiers’ – additional problems which help to characterise the individual's case. |
The aim of the DSM-5 specifiers is to make each diagnosis as precise and specific as possible to the individual person. ICD-11 adopts similar principles, but treats autism with and without intellectual disability as distinct sub-diagnoses. |
Activity 2 Additional symptoms with significance
From the feedback to Activity 1, can you identify one or more behaviours highlighted by parents but not included within the ICD-10 or DSM-5 core diagnostic criteria?
Answer
Several parents report their children’s sleep problems. Charlotte, George’s mother, mentions his precocious motor development and exceptional memory for words and phrases.
2.3 How is diagnosis carried out?
Diagnostic practice depends on the professionals involved, how they work, geographical area and country. In the UK, a school educational psychologist, GP or paediatrician may be involved in the early stages; a clinical psychologist or psychiatrist may make the diagnosis alone, but diagnosis will typically involve different specialists working as a team. An individual’s journey to diagnosis can involve problems, delays, distress and conflicting information. In the UK, most local authorities have defined procedures or ‘pathways’, that specify the process by which children suspected of having a special educational need are referred for specialist assessment and/or diagnostic evaluation. The
The process of assessing a child or adult usually involves a
Activity 3 A diagnostic tool in action
The following two clips feature expert Dr Amitta Shah using the DISCO in a diagnostic session with a young boy and his parents. Attending the session and providing commentary is clinical psychologist, Dr Laverne Antrobus. The interview itself focuses on the parents’ recall of their child’s early behaviour and their current concerns. As you watch the clips, note three other sources of evidence that Dr Shah says she has used in making the diagnosis.
Discussion
Dr Shah mentions reports from the paediatrician, DVDs and also meeting the child himself, which has enabled her to observe him directly. This integration of different evidence sources is typical of diagnostic tools for autism and is a key feature of the DISCO.
3 Experiences of diagnosis
Families and individuals vary in how they react to an autism spectrum diagnosis. Sometimes it comes as a relief, with parents having an explanation for the differences they see in their children, and which others may comment on. Other reactions may include grief, surprise, devastation, disbelief, anger, guilt or helplessness, sometimes together with depression. While parents may come to terms with the diagnosis, other family members may find it very difficult. For people diagnosed in adulthood, diagnosis often helps to explain years of struggling with a feeling of difference.
The following clips illustrate the reactions of parents and individuals over the years.
3.1 The first diagnoses
Back in the 1960s, parents of some of the first UK children to be diagnosed had to contend with the view that the autism was ‘their fault’. In the pioneering group of parents featured here, this stigmatising perception engendered disbelief and a determination to challenge the prevailing attitudes.
Timothy Baron was one of the first children to be diagnosed in the UK. His difficulties became apparent quite early – at 15 months – when his initial babbling began to disappear. However, his parents ignored advice to put him in an institution. Michael, his father, was one of the pioneering group who established the National Autistic Society, and its founding chair. Here first is Timothy's sister, filmmaker Saskia Baron:
Note that the paediatrician who diagnosed Timothy had apparently picked up new information about autism while in the States. The diagnosis given was ‘childhood psychosis’. The term autism did not yet appear in diagnostic classifications, and clinicians often used ‘childhood psychosis’ and ‘childhood schizophrenia’ interchangeably with it – though it was later demonstrated that autism had distinct symptoms. Nowadays many more professionals have knowledge of autism, and diagnosis is more likely to be carried out by a multidisciplinary team.
3.2 Parental blame: fighting back
Here are two more pioneering parents: Lorna Wing, who became a leading autism expert, followed by Hannelore Braunsberg. These days, Hannelore’s son David, who appears in the clip, is a talented artist. Both these parents contested the stigmatising explanation for their children’s condition.
3.3 Experiences of diagnosis: 1990s to now
Despite huge progress in diagnostic practices since the 1960s, parents’ reactions still vary widely, depending on what they were expecting, and also how the diagnoses were given. In these clips, note the efforts of all three parents to find positives in their child’s diagnosis.
Charlotte Moore had been relieved to have an explanation of why her son George, born in 1990, was still in nappies at age 4. Her second son, Sam, born in 1992, was also diagnosed with autism.
Mark and his wife had imagined that Zack’s problem was primarily a failure to develop speech, and had to come to terms with the diagnosis of a lifelong developmental condition. Mark talks of profound shock, and emotions similar to bereavement and mourning. Yet he describes with warmth the realisation that Zack was just the same person as before the diagnosis, and of the progress they have both helped Zack to make.
Arabella was not comfortable with the way diagnosis of her daughter Iris Grace, born in 2009, was delivered. She stresses the need for parents to receive positive messages and a sense of empowerment.
3.4 Experiencing diagnosis in adulthood
Nowadays it is not uncommon for an adult to receive a diagnosis after a younger family member has been diagnosed. John Peters was born in the 1940s. He is articulate and sociable, with an obsessive interest in collecting and hoarding objects. He was diagnosed with Asperger syndrome around two decades ago, after specialists assessing his two grandchildren, Acis and Harry, noticed his unusual behaviour. His Asperger syndrome diagnosis implies that he showed no delay in language development as an infant. John’s teenage behaviour was probably seen as eccentric, but in the period when he was growing up, a profile of skills and behaviour like his did not match the symptoms of autism as then described, and Asperger syndrome was not recognised.
Activity 4 On being diagnosed as an adult
Watch these clips about John Peters. Note one positive and one negative feeling that John experienced on being diagnosed.
Discussion
John's diagnosis has helped him to explain feeling different, and other problems that he has suffered with all his life. However, he also refers to a deep sense of guilt. This may be partly because he now realises that he was difficult to live with, and also because he has passed ‘autism genes’ to his grandchildren. He feels that if his own diagnosis had been known, Acis and Harry’s difficulties would have been explained earlier.
3.5 After diagnosis
Diagnosis is merely the beginning of a long journey. For parents, it can mean struggling to access appropriate education (both pre-school and school) and worthwhile interventions. You will read more about these in later weeks. Families are usually keen to know the
Activity 5 The benefits and drawbacks of diagnosis
You have seen that coming to terms with diagnosis is a challenge for any family. Some parents who are aware their child has difficulties may even avoid formal diagnosis, fearing that the ‘autism’ label will be detrimental.
Reflecting on what you have read and the video clips you have viewed, note three positive consequences of diagnosis and one potentially negative consequence.
Answer
Positives
Diagnosis:
- helps parents to understand behavioural differences that have concerned them
- explains why a person is very good at some things and struggles with others
- may help other people to accept why a child or adult behaves unusually
- may, particularly for a child, enable access to services and interventions, as well as appropriate support at school and/or social care services
- may, particularly for an adult, provide self-understanding, enabling the person to accept ‘who they are’.
Negatives
Diagnosis may:
- be hard for some family members to accept, leading to rifts
- serve as a stigmatising label
- cause uncomfortable emotions such as guilt.
Now watch this clip in which Arabella concludes in favour of diagnosis, despite the ups and downs:
4 Challenges for diagnosis
The prevalence of autism, an estimate of the number of individuals in a population identified as matching the autism diagnosis, is currently quoted as just over 1 in 100 children UK-wide (NAS, n.d.). But this figure is not consistent across all UK subgroups of people, let alone across different countries of the world. Here we consider two reasons for these differences.
4.1 Autism in females
Prevalence estimates for autism in males are consistently much higher than for autism in females, suggesting that four times as many males are diagnosed as females. This male/female disparity may even be as high as 10:1 if considering only males and females with high-functioning autism. There is much ongoing research into genetic and other biological factors which might make boys more susceptible to autism than girls. But there is also increasing evidence that autism diagnoses in girls are being missed.
Experts believe that autism characteristics in girls and women do not necessarily match the stereotype of obsessive interest in machines and other physical systems, coupled with obvious social withdrawal. Girls on the autism spectrum may have more ‘typically female’ interests, such as fashion or fiction, such that an unusually obsessive focus on the interest, or an unusual way of engaging with it, goes unnoticed by parents and peers, especially in intellectually able girls. Through an interest in other people’s behaviour, and/or a strong desire to conform, girls may strive hard to appear sociable, emulating the behaviour of their peers. This is well illustrated in this extract from Liane Holliday Willey’s autobiography:
My mother tells me I was very good at capturing the essence and persona of people. At times I literally copied someone’s looks and their actions. I was uncanny in my ability to copy accents, vocal inflections, facial expressions, hand movements, gaits and tiny gestures. It was as if I became the person I was emulating.
Girls may work hard to camouflage their autism, struggling for years with an underlying sense of isolation and difference. Even where parents express concerns to professionals, for instance because their daughter is extremely ‘faddish’ about food, autism may be dismissed because other areas of the child’s behaviour ‘don’t fit’. An increasing number of females are receiving diagnosis in adulthood, sometimes after treatment for an accompanying condition such as depression or anorexia. Experts are considering whether diagnostic tools need adjustment to be more ‘gender neutral’. Nonetheless, underdiagnosis alone is unlikely to explain all of the marked excess of males over females on the autism spectrum, suggesting that there is also increased biological risk in males.
See Lai et al. (2015) for a review of the evidence and ideas covered in this section.
4.2 Diagnosing autism in different cultures
In many developing countries, access to diagnosis is extremely limited, which contributes to strikingly lower prevalence estimates (Elsabbagh et al., 2012). There is also evidence for variations in diagnosis rates between different ethnic communities within a given country (Begeer et al., 2009).
Most diagnostic criteria and tools have been developed in the UK and US and reflect the majority Western understanding of what is typical behaviour and what constitutes significant difference. Beyond the challenge of making diagnosis available wherever it is needed, there is the issue of what diagnostic criteria and instruments are appropriate to use; cultural norms for behaviour must be considered (Norbury and Sparks, 2013).
Activity 6 What factors affect varying prevalence estimates across cultures?
In these clips, Dr Prithvi Perepa, of Northampton University, draws on his own research to consider the implications of cross-cultural factors for diagnosis of autism. As you watch the clips, note the main factors he mentions.
4.3 The effects of stigma
Even when parents are aware that their child has a problem, shame or fear of societal stigma may deter them from seeking appropriate help. For instance, in South Korean culture, some consider autism to be a ‘genetic taint’, which diminishes the marriage prospects of other children in the family. Parents may be reluctant to come forward, or may seek a diagnosis of ‘Reactive attachment disorder’, which implicates the mother’s behaviour in causing the child’s difficulties (Grinker et al., 2011).
Yet, as Dr Perepa explains, the role of stigma in explaining different rates of diagnosis across ethnic groups is complex and requires more research.
We will return to the global perspective in Week 8.
5 This week’s quiz
Check what you’ve learned this week by taking the end-of-week quiz.
Open the quiz in a new window or tab then return here once you’ve finished it.
6 Summary
This week has considered clues to autism in early childhood, highlighting subtle differences from typical development which parents tend to notice. After introducing the diagnostic criteria and diagnostic process, the focus moved to parents’ and individuals’ experiences of diagnosis, considering both the positives and the negatives. Finally, the week considered the likelihood that girls are being underdiagnosed because their behaviour does not match autism stereotypes, and the challenges of diagnosis in cross-cultural settings.
You should now be able to:
- describe behaviour in the first 2 years which may provide early indicators of autism
- appreciate the contributions made by parental accounts
- recognise internationally used diagnostic criteria and broad principles of diagnostic assessment
- appreciate different reactions to diagnosis
- understand challenges to diagnosis posed by gender and cross-cultural differences.
Next week you will look at psychological and biological explanations for autism.
Now you can go to Week 4.
References
Acknowledgements
This course was written by Dr Ilona Roth and Dr Nancy Rowell.
Except for third party materials and otherwise stated (see terms and conditions), this content is made available under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 Licence.
The material acknowledged below and within the course is Proprietary and used under licence (not subject to Creative Commons Licence). Grateful acknowledgement is made to the following sources for permission to reproduce material in this course:
Images
Figure 1: courtesy of Western Psychological Services
Audio/Video
Activity 1: 3.1, 3.2, 3.3, Activity 4: Clips from Autism Puzzle BBC 2 8/4/2003 © BBC 2003
Activity 3: clips from Growing Children, ep 1 13.8.2012 BBC 4 (c) BBC 2012
3.3: Mark and Son Zack: courtesy of National Autistic Society https://www.autism.org.uk/
3.3, Activity 5: Arabella talking to Dr Ilona Roth © The Open University
Every effort has been made to contact copyright owners. If any have been inadvertently overlooked, the publishers will be pleased to make the necessary arrangements at the first opportunity.
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