Report of the MMR Expert Group
2 Autistic Spectrum Disorders
This chapter describes:
autistic spectrum disorders (ASD) (paragraphs 2.5 to 2.7);
how common ASDs are, based on current evidence (paragraphs 2.8 to 2.14);
what we know, at present, about the causes of ASD (paragraphs 2.15 to 2.42);
how ASDs are diagnosed (paragraphs 2.43 to 2.46); and
the importance of improving the educational, social and health services provided to individuals with ASD (paragraphs 2.47 to 2.51).
2.1 The Expert Group was asked to review evidence on the apparent rise in the incidence of autism, taking account of the current work of the Medical Research Council (MRC).
2.2 The MRC Review of Autism Research8, published on 13 December 2001, provides a substantive and rigorous academic framework for the related work of the Expert Group. The Expert Group acknowledges that the MRC Review represents the most up-to-date expert assessment of the range and relative merit of current research evidence. The Expert Group also welcomes the way in which the MRC sought to take account, throughout the review, and in its findings, of relevant "grey" evidence (from parents, case records, and other "non-scientific" sources) in order to gain a more holistic perspective on what is known at present.
2.3 However, the Expert Group was also keen to take account of parents' expressed need for clear and concise information about autism: what it is; how it develops; how it can be recognised; and what are its causes.
2.4 The Group was also motivated by submissions presented by parents of children with autism, and others, to consider the range and quality of services required for, and provided to, such families, and how these might be improved. This falls more properly within the ambit of the Public Health Institute of Scotland (PHIS) Needs Assessment Report on Autistic Spectrum Disorders9, but the Group wished to endorse strongly that report's findings and conclusions.
Autism and Autistic Spectrum Disorders
2.5 Autism is one of a set of neurodevelopmental disorders which impair a person's capacity to communicate and interact with others. It is a term which has been in use for over 60 years, but is now, increasingly, being replaced by the concept of an autistic spectrum, covering a range of ability levels and manifestations of a set of common criteria: qualitative impairments in social, communicative and imaginative development. Autistic spectrum disorder is a complex, debilitating and lifelong set of conditions which manifests itself in many different ways.
2.6 Consistent with that, international classification systems (the World Health Organization's "International Classification of Diseases", 10th edition (ICD-10) 10 and the American Psychiatric Association's "Diagnostic and Statistical Manual", 4th edition (DSM-IV) 11) recognise several sub-groups of ASD and other pervasive development disorders. For example:
ICD 10 (World Health Organization, Geneva, 1994)
F84.10 Atypicality in age at onset
F84.11 Atypicality in symptomatology
F84.12 Atypicality in age at onset and symptomatology
Other childhood disintegrative disorder
Overactive disorder associated with mental retardation and stereotyped movements
Other pervasive developmental disorders
Pervasive developmental disorders unspecified
2.7 The Expert Group recognises that any formal definition will fail to capture the impact of ASD on any particular individual and family. This is covered in the following sections dealing with diagnosis and services.
Prevalence and Incidence
According to recent reviews, there appears fairly good agreement that the autism spectrum disorders affect approximately 60, and narrowly-defined autism 10-30, per 10,000 children under 8.
MRC Review of Autism Research
2.8 Prevalence measures the number of individuals with a condition at a point in time or over a defined period. It is related to incidence and duration of disease, and may increase as a result of increasing numbers or longer survival with a diagnosis. Incidence measures the development of "new" cases and is usually studied for disorders with clear onset.
2.9 The Expert Group was asked to review evidence on the apparent rise in the incidence of ASD, but has focused instead on the prevalence because that has been the focus, for the most part, of epidemiological studies of ASD.
2.10 Reviewing evidence on the apparent rise in the prevalence of autism was relatively straightforward. Submissions presented to the Expert Group signalled a strong consensus, consistent with the findings of the MRC Review. The following table shows how epidemiological evidence has progressed.
Autistic Spectrum Disorders - Review of Literature
Wing & Gould 12
5 per 10,000 children ("classic autism")
15 per 10,000 children broader ASD)
Review of 16 studies
3.3 to 16 per 10,000 children ("typical autism" defined variously)
Ehlers & Gillberg 14
Two-stage total population study
Prevalence (children aged 7-16)
Min. 36 per 10,000 children with AS plus equivalent number who did not meet full criteria for ASD
Review of 23 epidemiological studies (1966-98)
Minimum of 18.7 per 10,000 children (all ASD except AS)
Gillberg & Wing 16
Review of epidemiological studies of prevalence of autism (1966-1998)
Prevalence (children up to 18)
0.7 to 31 per 10,000
Estimate made of 1 per 1000 children for classic autism
Use of Kanner's strict criteria seems to give significantly lower rates than DSM or ICD criteria.
Powell & Edwards 17
Study of incidence rates
4.8/10,000 p.a. for pre-5 children for "other ASD" (1996)
3.5/10,000 p.a. for pre-5 children for "classic" autism
Small study so may not be generalisable
Baird et al. 18
Follow-up population study of prevalence
Prevalence (children aged 7)
57.9/10,000 for all ASDs
30.8/10,000 for AD
Center for Disease Control 19
Prevalence (children aged 3-10)
67/10,000 for all ASDs
40/10,000 for AD
Chakrabati & Fombonne 20
Prevalence (children aged 2.5-6.5)
62.6/10,000 for all ASDs
16.8/10,000 for AD
45.8/10,000 for other ASDs including AS
2.11 Divergent views were expressed in considering whether there has been a real rise, over time, in the prevalence of autism. Some of the submissions presented to the Expert Group attributed the increase to MMR. Most supported the conclusion that several factors, taken together, for example changing diagnostic thresholds, better and more active case ascertainment, survival, population flows, and changes in the prevalence of causal factors, may only have fuelled an apparent increase (i.e. the level of ASD is the same as it always was, but we have become better at recognising it).
2.12 The Expert Group endorses the conclusions reached by the MRC 8 and PHIS 9:
ASDs are considerably more common than has previously been recognised, with as many as 60 in 10,000 children affected.
Whether there is a real rise in numbers is unclear.
Methodological differences between studies, changes in diagnostic practice and public and professional awareness are likely causes of apparent increases in prevalence. Whether these factors are sufficient to account for increased numbers of identified individuals, or whether there has been a rise in actual numbers affected, is as yet unclear.
2.13 What is clear is that "the full range of ASDs affect a very significant number of children" 8. The PHIS report estimates that there are 7714 children under 19 with ASD in Scotland, and recognises that the prevalence of ASD among the adult population is not known. As such, there is now, perhaps, a more clearly defined gap between the recognised prevalence of ASD and the information previously used to plan related service provision. The importance of improving the educational, social and health services provided to individuals with ASD is addressed in paragraphs 2.43 to 2.51.
2.14 The perception that the rise in numbers may represent a real increase in ASD also drives the need for more research into causes, which is addressed in the following section.
The Causes of ASD
2.15 The report of the MRC Review of Autism Research gives a useful summary of the present available evidence relating to possible cause or causes of ASD. A cause can be defined as factor or exposure, which acts either alone or in conjunction with other factors to initiate a sequence of events, which may result in an effect.
2.16 It is important to restate that most diseases or disorders are rarely caused by a single agent, and may depend on a number of factors 7, 8, 21, which may be grouped together under three main headings:
Agent - a disease may be caused by a microorganism or a chemical or physical agent, or the presence or absence of a particular dietary substance.
Host - individual factors such as a person's genetic makeup or their nutritional status.
Environment - this includes not only the physical environment a person is exposed to, for example the water they drink, chemicals and biological agents they might be exposed to but also the educational, occupational, economic and social status of the family or situation they live in.
The MRC Review confirms that most researchers support the view that ASDs have a variety of causes which, acting together, cause the disorder. These are discussed in the following paragraphs, and summarised in the opposite box.
2.17 This report has already summarised the criteria used to infer a causal association between risk factors and disorders. The aim of the research into ASD is to identify any causal associations, which should then assist the development of effective and appropriate interventions. The interventions must either prevent the disorder occurring or if established, help to manage the disorder and prevent complications.
Evidence of genetic causes for ASDs
2.18 Complex genetic influences contribute to the majority of ASD cases. Single gene or chromosome disorders may affect a small minority (perhaps 5-10%) of those with ASDs, for example: individuals with fragile X syndrome; phenylketonuria; Turner's syndrome; and tuberous sclerosis. Twin studies 23 have shown that ASDs are heritable: 60% of identical twins with ASD also have an ASD. These estimates are based on small numbers of twins ascertained using relatively narrowly defined criteria. The rate of ASD in other siblings is 2-6% 24, which is 10 times the prevalence in the general population.
2.19 Several genes may be operating together to confer susceptibility. The MRC Review suggests that chromosomes 2, 7, 16 and 17 offer the strongest possibility for identifying the genetic susceptibility loci for ASD. The MRC Review notes that some genes may only be associated with ASD and not necessarily causative and that genetic susceptibility may interact with environmental factors, which may lead to the expression of ASD. International collaborative groups are most likely to make best progress in the search for relevant genes.
Possible environmental risk factors for ASD
2.20 The MRC Review notes that a variety of possible risk factors other than genetic susceptibility for ASD has been suggested, including exposures, before or after birth, to drugs, infections and heavy metals including mercury. Although there is evidence that mercury can have serious effects on the developing brain 25, there is no conclusive evidence that cases of ASD show high levels of mercury. There is insufficient evidence to date to allow firm conclusions to be drawn about any causal association.
2.21 There have been recent suggestions that early exposure to thiomersal, a preservative containing approximately 49% ethylmercury that has been used as a preservative in vaccines, may be implicated as a risk factor for ASD. It is important to note that there is no thiomersal in MMR vaccine. An assessment of the scientific literature on thiomersal included analyses of published and unpublished studies proposing an association with disorders such as ASD, and found them to be inconclusive. No evidence currently exists that proves a link between thiomersal-containing vaccines and ASD 8.
2.22 There is some inconsistent, non-specific evidence that suggests prenatal exposures and perinatal complications may be more common in individuals with ASD 8. Taking account of that, the MRC Review states that "it appears that obstetric complications may be a consequence, rather than a cause, of a child's ASD". This relates to the large head size that is a feature of many children with ASD. No specific prenatal exposures have been established as contributory.
ASDs have a variety of causes
Several genes probably interact
But they have yet to be identified
Evidence strongest - for chromosomes 2, 7, 16 and 17
Identifying these genes will transform the research agenda
But a simple genetic test is very unlikely
Interest in broader phenotype
OTHER RISK FACTORS
The evidence on other risk factors is insufficient
Available evidence does not support
Largely speculative, lacking evidence/replication
Drugs, sex hormones, carbon monoxide, lead
Abnormal immune function, allergies
Inadequate/not properly controlled studies
Intestinal inflammation ("autistic enterocolitis")
Intestinal permeability changes
Gluten and casein
Abnormal gut flora (study under way)
Abnormal sulphur metabolism
Significance of co-morbidities including epilepsy
2.23 Certain drugs have been implicated in association with ASD. The strongest evidence exists for intrauterine exposure to thalidomide, which is a drug known to have produced gross developmental abnormalities when taken during early pregnancy. Thalidomide is no longer a licensed medicine, although it can still be supplied to individual patients for specialised use under the responsibility of the individual doctor prescribing it. The observation that ASD are more common in males than females implicates sex hormones in the development of autistic traits, although this is not supported by direct evidence. Speculation has concerned the possible association of carbon monoxide poisoning or chronic exposure in mothers with anatomical and functional disturbances in their offspring, but there is no evidence to support its association with ASD.
2.24 The MRC Review reports evidence that a small number of cases has been reported in which viral infection (cytomegalovirus, herpes simplex and congenital rubella infection) may have played a role. These cases were sporadic and rare and are unlikely causative associations in the majority of individuals with ASD.
MMR and ASD
2.25 The MRC Review specifically comments on the scientific weight attributable to the published work by Wakefield et al26, which implied that MMR vaccine was a risk factor in ASD based on 12 individual cases. The MRC Review states that, at present, there is no evidence for inflammation or histological responses to infection in patients with ASD.
2.26 The MRC Review also refers to a number of other expert review groups, all of whom have analysed the published work:
the American Medical Association;
the Institute of Medicine, USA;
the World Health Organization;
the American Academy of Pediatrics;
the Population and Public Health Branch of Health Canada;
the Irish Department of Health and Children.
All these reviews concluded that a causal link between the MMR vaccine and "autistic colitis" and ASD was not proven and that the existing body of epidemiological evidence did not support this proposed link. The Expert Group has not reviewed all the evidence presented to the previous expert review groups.
2.27 This Group considers it is important to note that the suggested link between MMR vaccine and "autistic colitis" and ASD must, as the MRC and others have stated, remain "a theoretical possibility", largely because of the impossibility of proving a negative. Currently there are no epidemiological studies 8 that provide reliable evidence to assert the hypotheses of association between MMR and ASD. The MRC Review recognised the need for more research into the causes of autism, and the Expert Group supports this.
2.28 The MRC Review examined a number of UK studies looking at the relationships between MMR and ASD. In one study of 498 ASD cases 1, methods were used to investigate clustering of ASD within defined post-immunisation periods as well as to investigate potential effects of second dose of MMR. There was a steady increase in cases by year of birth with no sudden change in the time trend after the introduction of MMR immunisation. There was no difference in age at diagnosis between the individuals vaccinated before or after 18 months of age and those never vaccinated. There was no temporal association between onset of ASD within 1 or 2 years after immunisation with MMR. Developmental regression was not clustered in the months after immunisation. A separate analysis 1 of the incidence of ASD in relation to the timing of MMR concluded that there was no evidence of an association. A further epidemiological study by the same group was published in February 2002 27. The study demonstrated that the proportion of children with developmental regression or bowel symptoms has not changed significantly during the 20 years since 1970. There was also no significant difference in rates of bowel problems or regression in children who received the MMR vaccine before onset of parental concern about development, compared to those who received only after such concern and those who had not received MMR vaccine. A possible association between non-specific bowel problems and regression in children with autism was seen, but this was unrelated to MMR vaccination. The authors conclude that these findings therefore "provide no support for an MMR associated 'new variant' form of autism associated with developmental regression and bowel problems, and further evidence against involvement of MMR vaccine in the initiation of autism".
2.29 The MRC Review also examined a number of international studies looking at the links between MMR and ASD. A study from California published in 2001 1 looked at a retrospective analysis of MMR immunisation coverage rates among children born in 1980-94. School immunisation records were reviewed to determine retrospectively the age at which they first received MMR immunisation. No correlation was found between the time trend of early childhood MMR immunisation rates and the time trend in numbers of children with ASD. For the cohort studied, a marked, sustained increase in ASD case numbers was noted, but changes in early childhood MMR immunisation coverage over the same time period were much smaller and of shorter duration. These data do not suggest an association between MMR immunisation among young children and an increase in ASD occurrence.
2.30 One Finnish study 28 often referred to in the medical literature examined gastrointestinal symptoms reported prospectively as adverse events in relation to MMR vaccine. The authors subsequently traced those vaccinated children who developed gastrointestinal symptoms. The records of these subjects were examined to determine whether any of those children with gastrointestinal symptoms later developed ASD or other neurological signs or symptoms. No child had developed an ASD when followed up for 9-10 years after immunisation. However, this particular report did not examine the relation of MMR and ASD irrespective of gastrointestinal symptoms and does not therefore provide useful evidence on this particular point.
2.31 The Expert Group received an oral presentation by Mr Andrew Wakefield (then) of the Inflammatory Bowel Disease Study Group at the Royal Free Hospital and School of Medicine, and, as such, one of the leading proponents of the hypotheses linking MMR, "autistic colitis" and ASD. That presentation was based in part on published research, and in part on research which had yet to be peer-reviewed and published (and which was therefore to be treated as confidential). Mr Wakefield was clear, consistent with testimonies elsewhere 2 and in published papers, that his research does not provide scientific evidence of a causal link between MMR, "autistic colitis" and ASD. While a number of questions posed to him subsequently by the Expert Group remain unanswered, the unpublished material which underpinned Mr Wakefield's presentation is now in the public domain. " Potential viral pathogenic mechanism for new variant inflammatory bowel disease" 29"reports the association of new variant inflammatory bowel disease with the persistence of at least fragments of measles virus found within the follicular dendritic cells and lymphocytes of areas of lymphoid nodular hyperplasia"21. The associated editorial commentary states that "the data presented here are unquestionably interesting but beg a string of further questions ... we look forward to the answers"21.
2.32 The Expert Group also notes that both the editors of the journal in which the paper was published, and one of the co-authors, have stated that the study did not set out to investigate the role of MMR in the development of either bowel disease or developmental disorder, and no conclusions about such a role could, or should be, drawn from the findings.
Causation is rarely simple and never pure: most, if not all diseases are multifactorial in nature8, 21.
Physiological abnormalities in ASD
2.33 There are a number of published studies that report gastrointestinal abnormalities in people with ASD including those that have received MMR vaccine (see for instance Akobeng and Thomas 1999; Horvath et al 1999; Wakefield et al 2000; Taylor et al 2002; Fombonne and Chakrabarti 2001 30). It is not known whether or not these are exclusive to, or more common than, among non-ASD individuals with comparable dietary and bowel habits. The Expert Group acknowledges that association is not the same as causation, as has been discussed in paragraphs 1.26-1.31. The Expert Group was not tasked to evaluate technical scientific evidence and has relied on the reports of expert groups, in particular the MRC Review of Autism Research (2001), paragraphs130-146 8. Clearly further research in this area is needed.
2.34 Impaired sulphur metabolism has been reported for individuals with ASD using an indirect assay method. The finding is also noted in cases of rheumatoid arthritis, Parkinson's disease and motor neurone disease. This finding needs to be independently checked and replicated, preferably using a more direct method. Sulphur is important in the detoxification of certain substances in the body.
2.35 There is no clear pattern of differences in the immune system between children with ASD and those without. The MRC Review concluded that while there is considerable interest in possible immune problems in ASD, there is a lack of published research in this area, and as such there is no convincing evidence as to causal relationship between defects of the immune system and ASD.
2.36 Many ASD children are being offered certain exclusion diets such as casein and gluten-free diets with some reports of improvements. Data are presently limited, and further research, including appropriate control groups, would be of value. Anecdotal reports of the benefits of fish oil supplements have also been mentioned in research findings, but to date are inconclusive. The Expert Group is aware a large-scale study is underway examining the gut flora of children with ASD, and its findings are awaited with interest.
2.37 Brain abnormalities have been noted in some individuals with ASD. Brain weight is increased in a proportion of ASD cases, certain types of brain cells are decreased in the majority of cases studied, and some reports of developmental abnormalities are also reported. There is evidence that ASD is associated with abnormal cortical organisation, but more evidence and replication of findings are needed.
Research into the causes of ASD
2.38 The MRC Review of current research knowledge referred to the importance of broadening the future research agenda, in part because the focus has been centred on MMR. Conversely, we may know more about that issue than any other alleged environmental risk factor, because the specific question of the potential link between MMR immunisation and ASD has been the subject of extensive research.
2.39 The MRC Review also highlighted an extract from the Institute of Medicine report, which stated that "more extensive research would be necessary to provide evidence for the biological plausibility of a suggested causal link between viral infections and ASD, as it would be for other proposed causal factors".
2.40 The Expert Group welcomes the MRC's plans to work with the research community to develop high quality research proposals for funding which address key issues for research, in particular, case-definition, the roles and interplay between genetic and environmental risk factors, causal pathways and mechanisms, and new approaches to treatment and perhaps prevention. The Expert Group considers that The Scottish Executive and the Medical Research Council should work together to drive forward and fund, as appropriate, the full research agenda outlined in the final chapter of the MRC Review of Autism Research, which was informed by the concerns of parents and consumers. Parents and other representatives of those with autism must continue to play a key role in developing research strategies.
2.41 The Expert Group also recommends that the Executive and the MRC should, in pursuing that research agenda, seek to maximise international collaboration.
2.42 The Expert Group recognises that, at any given time, governments, organisations and individuals base decisions on the body of scientific evidence that is then available. The Expert Group acknowledges, like the HCCC, the MRC and others, that on the basis of currently available evidence, there is no proven scientific link between the MMR vaccine and autism.
Autism Spectrum Disorders (ASD) are diagnosed on the basis of qualitative abnormalities in social, communicative and imaginative behaviours, and the presence of repetitive and stereotyped patterns of interests and activities. Diagnosis is complicated by the varied manifestation of these core deficits, by wide variation in ability level, and by developmental changes.
MRC Review of Autism Research
2.43 ASD are typically characterised by a "triad of impairments" 31:
Social - impaired, deviant and extremely delayed social development, especially interpersonal development. The variation may be from "autistic aloofness" to "active but odd" characteristics.
Language and communication - impaired and deviant language and communication, verbal and non-verbal. Deviant, semantic and pragmatic aspects of language.
Thought and behaviour - rigidity of thought and behaviour and impoverished social imagination. Ritualistic behaviour, reliance on routines, extreme delay or absence of "pretend play".
Manifestations may vary for a number of reasons, including the presence of additional disorders, and changes in the way the disorder presents itself, or is perceived, at different ages or stages of development.
2.44 This "triad" of impairments is captured in current international classification systems (the World Health Organization's "International Classification of Diseases", 10th edition (ICD-10) 10 and the American Psychiatric Association's "Diagnostic and Statistical Manual", 4th edition (DSM-IV) 11).
2.45 The MRC Review of Autism rightly acknowledged that "even in the presence of agreed broad diagnostic criteria for ASD, the methods by which information has been obtained... have varied". Evidence presented to the Expert Group supports the conclusion that diagnosis remains, for many, time-consuming and traumatic, and that generally, health, social care, and education professionals who do not specialise in ASD need up-to-date information and knowledge.
Diagnostic Criteria for Childhood Autism
International Classification of Diseases (ICD-10)
A ABNORMAL OR IMPAIRED DEVELOPMENT IS EVIDENT BEFORE THE AGE OF 3 YEARS IN AT LEAST ONE OF THE FOLLOWING AREAS:
(1) receptive or expressive language as used in social communication;
(2) the development of selective social attachments or reciprocal social interaction;
(3) functional or symbolic play.
B A TOTAL OF AT LEAST SIX SYMPTOMS FROM (1), (2) AND (3) MUST BE PRESENT, WITH AT LEAST TWO FROM (1) AND AT LEAST ONE FROM EACH OF (2) AND (3):
(1) Qualitative abnormalities in reciprocal social interaction are manifest in at least two of the following areas:
(a) failure adequately to use eye-to-eye gaze, facial expression, body posture, and gesture to regulate social interaction;
(b) failure to develop (in a manner appropriate to mental age, and despite ample opportunities) peer relationships that involve a mutual sharing of interests, activities and emotions;
(c) lack of socio-emotional reciprocity as shown by an impaired or deviant response to other people's emotions; or lack of modulation of behaviour according to social context; or a weak integration of social, emotional and communicative behaviours;
(d) lack of spontaneous seeking to share enjoyment, interests or achievements with other people (e.g. a lack of showing, bringing or pointing out to other people objects of interest to the individual).
(2) Qualitative abnormalities in communication are manifest in at least one of the following areas:
(a) a delay in, or total lack of, development of spoken language that is not accompanied by an attempt to compensate through the use of gesture or mime as an alternative mode of communication (often preceded by a lack of communicative babbling);
(b) relative failure to initiate or sustain conversational interchange (at whatever level of language skills is present), in which there is reciprocal responsiveness to the communications of the other person;
(c) stereotyped and repetitive use of language or idiosyncratic use of words or phrases;
(d) lack of varied spontaneous make-believe or (when young) social imitative play.
(3) Restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities are manifest in at least one of the following areas:
(a) an encompassing preoccupation with one or more stereotyped and restricted patterns of interest that are abnormal in content or focus; or one or more interests that are abnormal in their intensity and circumscribed nature though not in their content or focus;
(b) apparently compulsive adherence to specific, non-functional routines or rituals;
(c) stereotyped and repetitive motor mannerisms that involve either hand or finger flapping or twisting, or complex whole body movements;
(d) preoccupations with part-objects or non-functioning elements of play materials (such as their odour, the feel of their surface, or the noise or vibration that they generate).
C THE CLINICAL PICTURE IS NOT ATTRIBUTABLE TO THE OTHER VARIETIES OF PERVASIVE DEVELOPMENTAL DISORDER.
2.46 The Expert Group welcomes the (UK) National Initiative on Autism: Screening and Assessment (NIASA), which has been established by the Royal College of Paediatrics and Child Health and the Faculty of Child and Adolescent Psychiatry, Royal College of Psychiatrists, with the support of the National Autistic Society (NAS) and the All-Party Parliamentary Group on Autism (APPGA). A working group will begin to develop working guidelines and protocols for timely diagnosis.
2.47 Based on evidence presented, the Expert Group was surprised and concerned by the apparent shortfall in the numbers of social and health professionals qualified and resourced to both diagnose ASD and provide appropriate support and assistance thereafter. The Group also noted the scope for improvements in inter-agency working. The Expert Group strongly endorses the views of the Public Health Institute of Scotland (PHIS) Needs Assessment Report 9:
"Current service provision is patchy and inadequate for the numbers of individuals with ASD requiring support:
Health care, education and social services vary depending on local resources and there are marked differences in ease of access to services due to limited facilities in some geographical areas.
Although there are examples of good, innovative and multi-agency practice across Scotland, there are some areas and some client groups, particularly adults and their families, who experience long delays and inconsistencies in the delivery of services and very little support after diagnosis. The transition from child to adult services is particularly problematic."
"Services should aim to deliver:
Joint assessment, delivery and review of care in a way that involves the relevant agencies, services and skilled and experienced professionals.
Active involvement of the family and the individual with ASD.
Appropriate early interventions.
Provision of a range of services delivered seamlessly to meet the various and differing needs of people with ASD, that are client centred and are planned and developed in a truly multi-agency and seamless way.
Well planned and sensitive management of the transition between childhood and adulthood within and between agencies.
All planning carried out should place the person at the centre of services and ensure that individual needs are addressed.
Joint policies, strategies and operational arrangements between agencies."
2.48 The Expert Group considers the last of these to be particularly important and recognises the precedent established by Report of the Joint Futures Group (Community Care)32. The Group recommends that all agencies working with those with ASD (and their families) develop joint policies, strategies and operational arrangements based on that model. However, the Expert Group considers it vitally important that representatives of the "users" or "consumers" of those services should be part of that ongoing management process, in a way that did not take place in the context of community care.
2.49 The Expert Group also looks to The Scottish Executive to consult widely, in order to publish a firm timetable for addressing all of the detailed recommendations set out in thePHIS Autistic Spectrum Disorders Needs Assessment Report, and in particular those relating to improved diagnosis and management of ASD, the need for a more coherent and systematic approach to training health, education and social care professionals, better and in appropriate numbers and developing and maintaining a database of people with ASD in Scotland. The Expert Group recognises that additional funding will be required as a consequence.
2.50 The Expert Group acknowledges that the Scottish Special Need System and the mapping exercise currently being undertaken by the Scottish Society for Autism may inform and underpin that work considerably.
2.51 The Expert Group also acknowledges that similar views and concerns might be expressed in relation to other conditions, falling outwith its remit. However, there is now, perhaps, a more clearly defined gap between the recognised prevalence of autism, and the information previously used to plan future service provision. It may be that, in the longer term, the resultant standard of integrated educational, health and social care provided to those with ASD will become the benchmark against which service provision is assessed.
Chapter 2 - Summary of Key Points
ASD is a set of neurodevelopmental disorders which impair a person's capacity to communicate and interact with others. It is a complex, debilitating and lifelong condition.
The MRC Review of Autism Research (December 2001) represents the most up-to-date expert assessment of the range and relative merit of current research evidence. As such, the Expert Group endorses the conclusions reached by the MRC:
ASD is considerably more common than has previously been recognised; methodological differences between studies, changes in diagnostic practice and public and professional awareness are likely causes of this increase in prevalence.
Current research evidence indicates that ASD have many possible genetic and environmental risk factors which, acting together, may cause the disorder; on the basis of currently available evidence, there is no proven scientific link between the MMR vaccine and autism.
Key issues for future research include case-definition, the roles and interplay between genetic and environmental risk factors, causal pathways and mechanisms, and new approaches to treatment.
The Expert Group has recommended more research and significantly better services.