- A local care pathway for autism with a single entry point should be developed and made widely known to primary care
- A local autism strategy group should be set up that includes all stakeholders (child health and mental health services, education, social care, parent and carer service users, and the voluntary sector). This group should be responsible for the pathway, appoint a lead professional, and ensure transition planning and audit
- A local diagnostic assessment team with competence in autism diagnosis across the age and ability range should be available in each locality
- Multi-agency training should be set up to raise awareness of autism across primary care and educate healthcare professionals using 'signs and symptoms'.
Guidance for referral decisions:
Professionals should take account of the signs and symptoms of autism, their severity and duration, pervasiveness across different settings (e.g. home and school), the impact of signs and symptoms, presence of factors associated with increased prevalence of autism (e.g. having a sibling with autism), and the level of parental/carer concern before referring to the autism team.
Support for families:
A case coordinator should be appointed for families undergoing autism diagnostic assessment.
What should be included in the diagnostic assessment? (autism-specific tools can be used, but no specific tool is recommended):
- Physical examination (but no routine medical tests are recommended)
- A systematic assessment for co-existing conditions is recommended
- Assessment should result in a profile of needs, strengths, and weaknesses, to aid the management plan
- Parents/carers and, where appropriate, the child or young person should be fully informed during and after the assessment. They should also be given a written report and offered an appointment 6 weeks later to review important information relating to the assessment/condition.
|NICE Clinical Guideline 128 on the diagnosis of autism in children and young people has been awarded the NHS Evidence Accreditation Mark.
This Mark identifies the most robustly produced guidance available. See evidence.nhs.uk/accreditation for further details.
Autism is a neurodevelopmental disorder. It is defined by a pattern of behaviour in which there are qualitative impairments in reciprocal social interaction and social communication, combined with restricted interests and rigid and repetitive behaviours. Sensory hypo- and hyper-sensitivities and stereotyped mannerisms are common. Autism is diagnosed when the above features meet the criteria defined in the Diagnostic and statistical manual of mental disorders (DSM-IV) and the International classification of diseases (ICD-10) for ‘pervasive developmental disorder’.1,2 Autism is heterogeneous in manifestation and causation, and there is a wide range of symptom severity and functional disability that affects people of all ages. This is emphasised by the term ‘the autism spectrum’, which is now viewed as synonymous with pervasive developmental disorder and in this article is referred to as ‘autism’.
Need for the guideline
Autism is strongly associated with: intellectual disability; other neurodevelopmental disorders affecting language, coordination, and academic skills; mental and behavioural disorders such as anxiety and attention deficit hyperactivity disorder; medical (e.g. epilepsy) and regulatory function symptoms; and disorders affecting feeding, elimination, and sleep.3 Recent prevalence studies suggest that at least 1% of UK children have autism.4 Recognition of the positive effects of intervention and the often negative impact on the family of a child with autism, has led to increased demand for autism diagnostic services.
The National Institute for Health and Care Excellence (NICE) has recently published the first of three guidelines on autism, ‘Recognition, referral and diagnosis of children and young people on the autism spectrum’.4 This first guideline covers autism in children and young people up to the age of 19 years. Diagnosis of autism is frequently delayed in children with high verbal and low intellectual ability, and also in situations where the presentation is a problem such as disruptive behaviour rather than a delay in a milestone (e.g. late language onset).
The second NICE guideline will focus on diagnosis and management of autism in adults (www.nice.org.uk/guidance/CG/Wave23/1) and the third guideline will cover management and support for children and young people with autism and their families (www.nice.org.uk/guidance/CG/Wave25/4).
Planning the service—the autism pathway
The first recommendation in the NICE guideline is that there should be a clear pathway from recognition to diagnosis for autism in all localities.4 It is recommended that a local autism strategy group be set up involving the local authority in collaboration with:3
- primary care
- child and mental health services
- social care
- parent carers
- the voluntary sector.
The strategy group should include managers and commissioners who have overall responsibility for ensuring that there is a local referral pathway with a single entry point to diagnostic assessment. The group should appoint a lead professional who is responsible for the diagnostic team, as well as raising awareness of autism through multiagency training, which will ensure a smooth transition to adult services. The process should be audited by the strategy group.4
A local multidisciplinary autism specialist team should be established that can provide advice to professionals about referral, and carry out autism diagnostic assessments for all ages and ability levels. The core membership of this specialist team should comprise a paediatrician and/or child and adolescent psychiatrist, speech and language therapist, and a clinical and/or educational psychologist. The team should be competent in differential diagnosis and ensure appropriate communication with families and children.4
Recognition of autism spectrum disorders
The core behaviours of autism are typically present in early childhood but may not become manifest until the social or situational demands change (e.g. going to school), particularly in an intellectually able child who has good language skills. The most common presentation of autism is delayed language onset;4 however, a significant number of children have no delay in their first words and may even have advanced language skills with a sophisticated vocabulary. Sometimes features of autism are obvious in the first year, as can be seen during retrospective study of first-birthday videos, although parents may not have been alerted to problems at this stage.
The NICE guideline lists signs and symptoms that should alert a healthcare professional to the possibility of autism at three developmental ages:4
- 5-11 years of age
- 11-18 years of age.
The preschool signs are listed in Table 1. It is recommended that these are used in multiagency training—training of the agencies (child health and mental health services, education, social care, parent and carer service users, and the voluntary sector) involved in the local autism strategy group.4
The signs and symptoms reflect a lack of interest in, and understanding of, social interactive and communicative skills, such as looking at people and following their gaze, smiling responsively, initiating active engagement with a person, and imitation of others. There can also be an absence of what is referred to as ‘joint attention’—the active shared attention shown by gaze switching between a person and an object that indicates a shared focus of interest. A lack of imagination and ideas is shown in very repetitive play. The child may show unusual features such as extremes of sound, touch, and texture sensitivity, all of which may affect daily activities, such as dressing and feeding. Repetitive motor mannerisms may be seen. The need for ‘sameness’ and rigidity of routine can result in distress if this is disturbed.
In children who do not exhibit language delay or early rigidities, difficulties may not become obvious until they start school. Common presentations are disruptive behaviour due to either anxiety or a difficulty in conforming to expectations of others or to a routine; sensory reactivity; or a problem interacting with peers. Issues with peer-peer interactions can range from over-dominant insistence on rules of play to removal from all social interaction. Even if a child is competent with their structural language, difficulties with reciprocal conversation are found—either too little or too much talking. Misunderstanding ‘speaker intention’ is a frequent problem even in those with good language skills, and a preference for being ‘in one’s own world’ may be misjudged as inattention.
Sometimes a social and communicative impairment does not become obvious until secondary school when the demands for sophisticated interpersonal skills and/or the flexibility of managing the demands of a large school and varied curriculum expose autism spectrum disorder (ASD) features that were previously masked.
In at least one-third of children with autism, parents describe a loss of language and social skills in the second year of life. Children stop using the words they have developed, may socially withdraw, lose eye contact and gestural skills, and develop repetitive behaviours. There are no clear medical reasons for this. If the onset of autism is after the age of 3 years, regression of language and social skills is rare and must be differentiated from other causes of language delay, such as an epileptic encephalopathy, in which overt seizures may not be obvious.
The NICE guideline recommends that in any situation where concern is expressed about a child’s development or behaviour the possibility of autism should be considered.4 Any developmental concerns about a child should always be taken seriously, particularly if noted by the parent.4 The signs and symptoms described are not intended to be used as a checklist, but should enable a pattern of impairment to be recognised and should be seen in the context of the child’s overall development.4 The guideline also dispels common misapprehensions, for example, autism should not be ruled out because of good eye contact or attachment to family members.4
Routine screening for autism is advised by the American Academy of Pediatrics.5 The NICE guideline did not consider population screening, which is the remit of the UK National Screening Committee, but did review the use of autism screening tools in children and young people who have an increased likelihood of autism (secondary screening). NICE concluded that the tools were useful but not essential and should not be used to make or rule out a diagnosis of autism.
High scores can be obtained for reasons other than autism and low scores do not rule out autism.4 It should be noted that the prevalence of autism is increased in certain situations:
- Birth before 35 weeks gestation
- Increased paternal age
- Having a sibling with autism (recently reported as 19%)6
- Male sex
- Parental history of affective disorder or psychosis
- Intellectual disability
- In certain medical conditions such as tuberous sclerosis, neurofibromatosis, Fragile X syndrome, and other chromosomal disorders.
|Table 1: Signs and symptoms of possible autism in preschool children (or equivalent mental age)4|
Social interaction and reciprocal communication behaviours
Responding to others
Interacting with others
Eye contact, pointing, and other gestures
Ideas and imagination
Unusual or restricted interests and/or rigid and repetitive behaviours
|National Institute for Health and Care Excellence (NICE) (2011) CG128. Autism: recognition, referral and diagnosis of children and young people on the autism spectrum. London: NICE. Available from www.nice.org.uk/guidance/CG128 Reproduced with permission.|
Referral for an autism diagnostic assessment
Professionals referring to the autism team should take account of the signs and symptoms of autism, their severity and duration, pervasiveness across different settings, (e.g. home and school), presence of factors associated with increased prevalence of autism (see list above), and the level of parental/carer concern. Children younger than 3 years of age who have regressed in language and social skills should be referred directly to the autism team; children aged over 3 years who regress in language or a child of any age with regression in motor skills, should be referred for paediatric or paediatric neurology assessment.4
Information and support
It is recommended that at all times information should be shared with parent/carers and, when appropriate, the child or young person. However, if the parent/carer does not suspect a developmental problem the healthcare professional needs to be aware that raising the possibility may cause distress. In situations where a healthcare professional is concerned but is uncertain about referral, a member of the autism team should be consulted.
To support families and provide information about both the referral and diagnostic processes, the guidance recommends that a ‘case coordinator’ is appointed from the autism team for all children undergoing autism assessment.4
The diagnostic assessment should include:4
- detailed questions about the concerns of the parent or carer and, if appropriate, the concerns of the child or young person
- details of the child’s or young person’s experiences of home life, education, and social care
- a developmental history, focusing on developmental and current behavioural features that are consistent with ICD-10 or DSM-IV criteria—consider using an autism-specific tool to gather this information although no specific tool is recommended
- assessment of social and communication skills and behaviours through interaction with and observation of the child or young person, focusing on features consistent with ICD-10 or DSM-IV criteria—consider using an autism-specific tool to gather this information
- a medical history, including family history, prenatal and perinatal history, past and current health conditions
- a physical examination—no routine medical investigations are recommended but examinations should be based on clinical features
- consideration of the differential diagnosis (e.g. specific language delay
or disorder, attention deficit hyperactivity disorder)
- communicating assessment findings to the parent or carer and, if appropriate, the child or young person.
The assessment leads to development of a profile of the patient’s strengths, skills, impairments, and needs that can be used to create a needs-based management plan, taking into account family and educational context.
A written report should be made available to the family and, after gaining consent from the parent/carer and child/young person if appropriate, shared with other professionals who are involved in providing care. A follow-up appointment for further discussion should be scheduled with a suitable member of the autism team within 6 weeks of assessment.4
Overcoming barriers to implementation
Implementing some of the recommendations in the NICE guideline, for example raising awareness of autism in primary health care, education, and social care, has considerable training implications. Many localities have developed diagnostic pathways for children and young people but they may not include the whole population up to age 19 years. In particular there is a lack of services for people of all ages who have learning difficulties.
Identifying professionals who are able to assess all age and intellectual ability groups, can recognise co-existing physical and mental health conditions, and can complete the child’s profile by identifying the individual’s strengths and needs may be challenging for some services and localities. However, by working across agencies (child health and mental health services, education, social care, parent and carer service users, and the voluntary sector) repetition of assessments can be avoided and better service integration should be seen, for example, between educational psychologists and healthcare professionals. Reports suggest that successful remodelling of services can meet the demand for autism assessments while also maintaining quality.7
Primary care healthcare practitioners have an important role to play in the recognition and referral of autism in children and young people. This may be through:
- initial recognition of a different developmental course in a child
- commissioning services
- responding to parental concern or guiding families through the local pathway and supporting them during the process of diagnosis.
Key skills are acquiring awareness of ASD through training, empathic understanding of families’ concerns, and having knowledge of local pathways and support services.
NICE has developed the following tools to support implementation of Clinical Guideline 128 on Autism in children and young people. The tools are now available to download from the NICE website: www.nice.org.uk/CG128
Baseline assessment tool
The baseline assessment tool is an Excel spreadsheet that can be used by organisations to identify if they are in line with practice recommended in NICE guidance and to help them plan activity that will help them meet the recommendations.
Clinical audit tools
Audit tools aim to assist organisations with the audit process, thereby helping to ensure that practice is in line with the NICE recommendations. They consist of audit criteria and data collection tool(s) and can be edited or adapted for local use.
Clinical case scenarios
Scenarios have been developed to improve and assess users' knowledge of the autism guideline and its application in primary care.
The costing statement estimates the financial impact to the NHS of implementing this clinical guideline. This statement focuses on the financial impact of the recommendations that require most change in resources to implement in England
Electronic audit tool
Electronic audit tools are developed to assist organisations with clinical audit and to ensure that practice is in line with the NICE recommendations.
The slides provide a framework for discussing the NICE guideline with a variety of audiences and can assist in local dissemination. This information does not supersede or replace the guidance itself.
Signs and symptoms tables
These tables are intended to alert professionals to the possibility of autism in a child or young person in whom concerns have been raised. The signs and symptoms highlighted are a combination of delay in expected features of development and the presence of unusual features.
Social Care Institute of Excellence resources
The resources look at how to improve access to social care services for people with autism, as well as the implications of personalisation for people with autism.
Further information on autism and support for people with autism and their families may be obtained from the following websites:
View the Guidelines summary of the NICE guideline on Autism: recognition, referral and diagnosis of children and young people on the autism spectrum at: egln.co.uk/link/32905
- The NICE guideline on autism requires commissioners to ensure that they have a local multi-professional autism strategy group which is responsible for the design and implementation of a local pathway for the diagnosis of suspected autism
- The NICE guideline suggests that the autism strategy group appoints a lead professional who is responsible for delivery against this pathway and raising awareness of autism
- When developing the pathway, commissioners will need to define which agencies fund specific elements of the pathway or look to pool budgets
- Commissioners will need to coordinate closely with professionals from education and social services and look to commission services jointly
- There will also be a need to ensure that sufficient specialist services for the management of autism (once diagnosed) are commissioned to meet this pathway
- In the future, clinical commissioning groups may wish to help raise awareness of the presenting features of autism in primary care professionals through educational events and literature.
- American Psychiatric Association. Pervasive developmental disorders. In: Diagnostic and statistical manual of mental disorders. (Fourth edition – text revision (DSM-IV-TR). Washington, DC: American Psychiatric Association, 2000: pp. 69-70.
- World Health Organization. International classification of diseases: Diagnostic criteria for research (10th edition). Geneva: WHO, 1992.
- Baird G, Simonoff E, Pickles A et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006; 368: 210-215.
- National Institute for Health and Care Excellence. Autism diagnosis in children and young people: recognition, referral and diagnosis of children and young people on the autism spectrum. Clinical Guideline 128. London: NICE, 2011. Available at: www.nice.org.uk/cg128
- Johnson C, Myers S; American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120 (5): 1183-1215.
- Ozonoff S, Young G, Carter A et al. Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics 2011; 128 (3): e488-e495. [Epub ahead of print]
- Bothwell J, Hayden C, Cummings C et al. Clinical outcomes following evaluation of a remodelled autism assessment service. Personal practice paper presented on 12 October 2011, at the Annual Scientific Meeting of the British Association for Community Child Health, Aston University, Birmingham UK: Investing in children—Size matters. Abstract available at www.bacch.org.uk/conferences/documents/ASM2011fullprogrammefinal.pdfG