Autism spectrum disorder (ASD) is now recognised not only as a childhood disorder, but also as a heterogeneous neurodevelopmental condition that persists throughout life.
This summary of the European Society of Child and Adolescent Psychiatry (ESCAP)’s practical guidance for autism aims to improve knowledge and practice on the detection, diagnosis, and treatment of ASD, providing evidence-based advice on core and minimum standards of good practice in the assessment and treatment of ASD in people of all ages. The guidance is designed for adoption in general practice across Europe.
Diagnostic Classification Systems
Diagnostic and Statistical Manual of Mental Disorders
- Although in certain European countries autism remains in the category of ‘psychotic disorders’, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) makes it clear that autism is not a psychotic disorder. Instead, autism is included within the domain of ‘neurodevelopmental disorders’, characterised by specific developmental impairments in cognitive, psychological, communication, social, adaptive, and/or motor functioning
- The classification also includes intellectual disability (intellectual developmental disorder), communication disorders, attention-deficit/hyperactivity disorder (ADHD), specific learning disorder, and motor disorders
- DSM-5 allows for further distinctions according to severity level. Thus, clinicians and researchers are encouraged to use ‘specifiers’ to identify individual characteristics such as
- with or without accompanying intellectual impairment
- with or without language impairment
- associated with a known medical or genetic condition or environmental factor, or with another neurodevelopmental, mental, or behavioural disorder
- Severity is also rated according to the amount of support needed. This ranges from level 1 (needing some support) to 3 (needing very substantial support).
|Box 1: ASD Diagnostic Criteria: DSM-5|
|All of the following symptoms describing persistent deficits in social communication/interaction across contexts, not accounted for by general developmental delays, must be met:|
- problems reciprocating social or emotional interaction, including difficulty establishing or maintaining back-and-forth conversations and interactions, inability to initiate an interaction, and problems with shared attention or sharing of emotions and interests with others
- severe problems maintaining relationships—ranges from lack of interest in other people to difficulties in pretend play and engaging in age-appropriate social activities, and problems adjusting to different social expectations
- non-verbal communication problems such as abnormal eye contact, posture, facial expressions, tone of voice and gestures, as well as an inability to understand these
- two of the four symptoms related to restricted and repetitive behaviour need to be present:
- stereotyped or repetitive speech, motor movements, or use of objects
- excessive adherence to routines, ritualised patterns of verbal or nonverbal behaviour, or excessive resistance to change
- highly restricted interests that are abnormal in intensity or focus
- hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment
|© The Author(s) 2020. Reproduced with permission.|
International Classification of Diseases
- There are close parallels between DSM-5 and the International Classification of Diseases (ICD-11) classifications of autism. Although clinicians and researchers in many countries use the DSM, the ICD is the coding system officially used in most countries of the world
- As in DSM-5, ICD-11 groups autism symptoms into two core domains:
- persistent deficits in the ability to initiate and sustain reciprocal social interaction and social communication, and
- a range of restricted, repetitive, and inflexible patterns of behaviour and interests. Deficits must be sufficiently severe to cause impairment in personal, family, social, educational, occupational, or other important areas of functioning.
For more information on DSM-5 and ICD-11, and for information on the prevalence of autism, refer to the full guideline.
- In most countries, advances in awareness of autism have not been accompanied by improvements in the age of diagnosis. Parents typically have concerns about their child’s development by the age of 18–24 months, but a review of 42 studies found that the mean age for diagnosis in developed countries varied from 38–120 months
- In less-developed countries, or in populations without medical insurance or access to free healthcare, age of diagnosis is likely to be much later
- Although speech delay is not specific to autism, delays in babbling/talking are often the first signs to give rise to parental concerns. Other early symptoms include delays in pointing/gesturing, responding to own name, and poor eye contact
- Difficulties in social interaction with peers and/or unusual repetitive behaviours may not be apparent in the first 2–3 years, therefore their absence in very young children should not rule out a possible diagnosis.
|Box 2: Red Flags for Autism in Children|
- Does not respond to their name by 12 months of age
- Does not point at objects to show interest (e.g. pointing at an aeroplane flying over) by 14 months
- Does not play ‘pretend’ games (e.g. pretending to ‘feed’ a doll) by 18 months
- Avoids eye contact and wants to be alone
- Has trouble understanding other people’s feelings or talking about their own feelings
- Has delayed speech and language skills
- Repeats words or phrases over and over (echolalia)
- Gives unrelated answers to questions
- Gets upset by minor changes
- Has obsessive interests
- Flaps their hands, rocks their body, or spins in circles
- Has unusual reactions to the way things sound, smell, taste, look, or feel.
|© The Author(s) 2020. Reproduced with permission.|
- Recent prospective studies indicate that the onset of autism is often preceded by a subtle decline, during the first 24 months of life, in trajectories of key social and communication behaviours, suggesting that a regressive onset pattern may occur more frequently than previously recognised.
Early Identification of Autism
- There is no single measure that can be recommended for the early detection of autism, but several commonly used screening instruments are widely available
- The purpose of screening instruments is to alert physicians to the possibility of autism; they are not designed to confirm diagnosis
- Not all children with autism score positively on these instruments and failure to meet cut-off criteria does not necessarily mean that an autism diagnosis should be excluded. If other sources of information indicate developmental delay or disturbance, a full diagnostic assessment is still warranted
- Earlier recognition of autism symptoms could also be improved by greater awareness of risk factors among professionals. Individuals at heightened risk of autism include:
- siblings of already identified cases
- babies born to older fathers and older or very young mothers
- history of suboptimal pre- or perinatal development (for example, medication use in pregnancy, maternal obesity, hypertension, or infection)
- The risks of autism are also increased among children with a range of genetic conditions and/or those with other disorders, such as anxiety and mood disorders, ADHD, and obsessive–compulsive disorder
- The simplest and most effective mechanism for improving detection could be to ensure that care professionals respond much more rapidly to parental concerns, especially about early delays/abnormalities related to socially interactive behaviours such as gaze, smiles, and social vocalisations
- Early identification of children at risk of autism is important to offer support to families and facilitate access to appropriate education and treatment. Although the long-term benefits of early intervention programmes remain uncertain, there is good evidence that intervention in the early years can help to enhance social communication skills, minimise symptom severity, optimise child development, and improve parental stress and wellbeing.
- NICE Clinical Guideline 128 on the recognition, referral, and diagnosis of ASD in under 19s states: ‘the focus of assessment should not only be on diagnosis but should also consider the risks a person faces, as well as their physical, psychological and social functioning…. In all cases the central aim is to identify need for treatment and care.' The diagnostic process must therefore not only include assessment of autism symptomatology, but also should systematically explore developmental history, current cognitive and language functioning, social and family background, and possible underlying genetic mechanisms
- Clinical examination is also needed to identify any accompanying neurodevelopmental, physical, and/or sensory difficulties
- Autism is a highly complex and heterogeneous condition that evolves with age. Hence, the diagnostic team should be multiprofessional, involving at the very least medical (psychiatric and/or paediatric) and psychological (clinical or educational) input from clinicians with training and experience in developmental disorders
- Diagnosis requires not only direct individual assessment, but also information from carers (usually the parents) and all others who play an essential role in the person’s life (for example, teachers of school children, and partners or siblings of older individuals).
Assessment in Children
- The diagnostic assessment should begin with a detailed clinical history to establish the individual’s developmental trajectory, medical history, developmental level, and relevant family or social factors
- Identification of autism symptoms should include direct observation of the individual as well as information from carers
- Autism is frequently accompanied by cognitive and language difficulties that have a major impact on functioning and prognosis. Many children with profound intellectual difficulties show patterns of development that are similar to autism, therefore developmental information is crucial for differential diagnosis, as well as for planning appropriate educational provision and intervention
- Because developmental profiles in autism are often very uneven, an overall intelligence quotient figure may not adequately reflect an individual’s functional ability. Instead, the focus of assessment should be to identify specific areas of relative strengths and weakness and to recommend appropriate strategies to overcome, minimise, or circumvent areas of difficulty.
|Box 3: Minimum Assessment for Autism in Children|
- Clinical history
- Identification of autism symptomology
- Assessment of development level and expressive and receptive language skills
- Physical and sensory examination (hearing and vision; neurological screening)
- Assessment of emotional or behavioural difficulties
- Information on socioenvironmental factors.
|© The Author(s) 2020. Reproduced with permission.|
Assessments in Adulthood
- Almost all diagnostic instruments were initially developed for children, but in adulthood, it is sometimes difficult to obtain early developmental data. Clinical judgement frequently has to rely on self-reporting and/or data from other sources (for example, siblings, friends, and partners) to ensure that all relevant information is included
- In adulthood, autism symptoms may be less evident than in childhood, especially in cognitively able individuals who have developed ways of circumventing or disguising some of their difficulties. Additional problems, such as depression or anxiety, further complicate the clinical picture
- Information on past contact with child services, indications of earlier neurodevelopmental problems, and assessment of current functioning (especially when functional ability is out of synchrony with cognitive level) can also help to clarify diagnosis.
|Box 4: Recognising Autism Symptoms in Adults|
|Adults of Higher IQ|
Adults with Moderate or Severe Learning Disability (Using Information from a Family Member or Carer)
- One or more of the following:
- persistent difficulties in social interaction
- persistent difficulties in social communication
- stereotypic (rigid and repetitive) behaviours, resistance to change or restricted interests and
- One or more of the following:
- problems in obtaining or sustaining employment or education
- difficulties in initiating or sustaining social relationships
- previous or current contact with mental health or learning disability services
- a history of a neurodevelopmental condition (including learning disabilities and ADHD or mental disorder.
- Two or more of the following:
- difficulties in reciprocal social interaction including:
- limited interaction with others (e.g. being aloof, indifferent, or unusual)
- interaction to fulfil needs only
- naïve or one-sided interaction
- lack of responsiveness to others
- little or no change in behaviour in response to different social situations
- limited social demonstration of empathy
- rigid routines and resistance to change
- marked repetitive activities (e.g. rocking or finger flapping), especially when under stress or when expressing emotions.
|© NICE. Autism spectrum disorder in adults: diagnosis and management. NICE, 2021. Available at: www.nice.org.uk/guidance/cg142. All rights reserved. Subject to Notice of Rights.|
|ADHD=attention-deficit/hyperactivity disorder; IQ=intelligence quotient|
Diagnosing Autism in Women and Girls
- There is now growing awareness that many women and girls with autism remain undiagnosed for several reasons. Thus, the manifestation of symptoms in women and girls with autism may be atypical
- Social and communication deficits are often more subtle than in males and females may be more adept at ‘masking’ or ‘camouflaging’ their differences
- Current autism diagnostic assessments make no allowance for possible gender differences and identifying autism in women and girls may require much more focused and detailed clinical enquiry
- The diagnosis of autism in adult women who have not received a diagnosis in childhood is particularly complicated. Many are misdiagnosed with a variety of mental health conditions, such as borderline personality disorders. Often, the clinician lacks access to informants who have known the individuals since childhood and the high emotionality, difficulties of expression, and introspection of some women with autism means that they can have problems in explaining their difficulties or feelings
- It is important that professionals do not immediately reject a diagnosis of autism in women and girls, even if symptoms are below the diagnostic threshold. Instead, it may be necessary to see the individual over several sessions before reaching a definitive diagnosis.
Common Coexisting Conditions
Physical and Sensory Problems
- Autism is associated with a range of medical conditions, including hearing and visual impairments, epilepsy, and other neurological disorders. Consequently, the diagnostic process should include thorough physical and sensory assessments together with a standard neurological examination, and if possible, conducted by a neuropaediatrician in the case of children
- If no specific deficits are identified, there is usually no clinical need for additional electroencephalogram and/or neuroimaging testing. However, if there are causes for concern (such as epilepsy or unexplained loss of skills), more detailed neurological testing is required.
- In families with one child with autism, there is a 10% recurrence risk of autism and a 20–25% risk of other neurodevelopmental disorders in siblings. The recurrence risk increases to 36% in families with two children with autism
- Identification of possible genetic causes is important to ensure access to genetic counselling, to identify possible risks in other family members, and for the provision of appropriate medical care (for example, for identifying the risk of associated disorders such as heart or cerebral dysfunction).
Emotional and Behavioural Problems
- Individuals with autism have a significantly increased risk for many other disorders including ADHD, irritability, aggression, sleep problems, and mental health conditions, particularly anxiety and depression. An elevated rate of autism symptoms has also been found in children with Tourette’s syndrome
- Other coexisting disorders such as post-traumatic stress disorder, eating disorders, gender dysphoria, and substance abuse have received relatively less empirical study, but all these problems can have a significant and negative impact on functioning and quality of life, and greatly increase parental/carer stress.
For information on prognosis and diagnosing autism, refer to the full guideline.
General Principles of Treatment
- Early support is crucial to improve parental confidence and competence, and may also minimise the escalation of later problems
- Even if families need to wait for a formal diagnosis of autism, detailed assessments of the child’s skills and difficulties across multiple domains can inform general approaches to management, based on the child’s individual profiles of skills and difficulties across multiple domains
- Objective assessments, even of a simple kind, are essential to place observed behaviours within a developmental framework, thus serving as a baseline for planning interventions and monitoring subsequent progress.
The Importance of Individual Strengths
- Conclusions from standardised assessments, and recommendations for treatment and support, must always consider the individual’s profile of strengths, difficulties, and needs, and the family and social context in which they live
- It is also important to be aware that individuals, families, and circumstances change with age, and thus intervention and support must be adapted to take account of these changes
- Areas of strength can be used to circumvent or substitute for areas of relative weakness. For example, visual communication strategies can be effective for individuals with good visual skills but limited verbal ability. Special interests (for example, in numbers, facts, computing) can be used to improve academic or practical skills and to foster social contacts.
Intervention Based on Functional Analysis of Behaviour
- Intervention should be based on a ‘functional analysis’ of behaviour—this involves taking account all the factors that may be limiting an individual’s ability or quality of life and developing testable hypotheses about the potential functions of observed behaviours
- This makes it possible to identify potential underlying causes of difficulties, help individuals to acquire alternative and more effective/acceptable means of influencing their environment, and help to develop the skills needed to improve quality of life
- Functional analysis should also help to identify environmental factors (social, sensory, cognitive, physical) that may be limiting progress and/or quality of life. Even very minor environmental changes can have major effects on behaviour and individual wellbeing.
Effective Treatment to Minimise Difficulties
- Treatment should not be based on a prescribed number of hours or sessions per day or week of therapy. Instead, the aim of therapy should be to ensure that all possible opportunities during the day are used to facilitate progress and minimise difficulties.
For more information on the general principles of treatment and intervention in infancy, school-age period, and transition to adulthood, refer to the full guideline.
Intervention in Adult Life
- The goal for all adults, whether or not they have autism, is to achieve a quality of life that is equivalent to that of the majority of citizens of their country
- Although the evidence base for interventions in adulthood is limited, there is some evidence for interventions designed to improve social functioning. These typically involve a wide range of different strategies including modelling, direct feedback, discussion and decision making, and formulation of explicit rules and general strategies for dealing with socially difficult situations
- For mood disorders, cognitive behavioural approaches, including mindfulness, are reported to have a moderate-to-large effect on reducing anxiety, although the impact on depressive symptoms is less certain. However, adaptations to standard cognitive behavioural therapy are needed to take account of the specific symptoms of autism
- Clinicians involved in the transition to adulthood should help to establish a ‘life project’ that includes all the essential shared components of human life. These include support for:
- independent or semi-independent living
- developing friendships and, as appropriate, intimate relationships
- decreasing loneliness and improving community participation
- helping individuals to deal with unavoidable life events such as loss of parents, or the need to move home
- It is also essential to develop effective ways of maintaining good physical health and to provide regular medical care and monitoring for chronic conditions associated with autism, particularly epilepsy
- Access to autism-specific mental healthcare is also crucial to reduce the rates of anxiety and depression and minimise the risk of suicide.
Specific Therapeutic Interventions
- There are no specific interventions that can be recommended for all individuals. To date, the strongest evidence is for interventions that focus on early parent–child interactions. However, most of these have involved very young children, and the evidence base for interventions for older children, adolescents, and adults is limited.
Parent-Focused Behavioural Management Programmes for Children and Adolescents
- The intensity and costs of many home- or clinic-based behavioural programmes mean that the financial or time demands are far beyond the means of most families, and few public services are able to provide therapy of this kind
- However, it is possible to provide families with evidence-based advice about behavioural management on a much less costly basis. Psycho-education groups for parents of newly diagnosed children are now offered routinely by many child and adolescent clinics and aim to increase parents’ understanding of autism; how to enhance social and communication skills, and how to manage ‘challenging’ behaviours such as rituals, temper tantrums and aggression, fears and phobias, and eating, sleeping, and toileting problems
- Programmes are generally group based (sometimes with some individual and/or home sessions), typically taking place over a few weeks, and have been found to increase parental competence and wellbeing and show improvements in children’s adaptive behaviour.
Social Skill Programmes for Children
- Interventions to improve social skills are widely used in schools and clinics for children with autism. These can involve a wide variety of different strategies, including social groups, computerised programmes, cognitive behaviour strategies, and peer support.
For information on other specific therapeutic interventions, including social communication therapies, interventions based on applied behaviour analysis, and naturalistic developmental behavioural interventions, refer to the full guideline.
Speech and Language Therapy
- The main goal is to enhance understanding and communication by whatever means are most appropriate for the individual, rather than concentrating solely on the production of speech
- For many individuals, particularly those of lower ability, this may involve using alternative or augmentative forms of communication, such as signs, symbols, or pictures
- Some approaches also focus on the importance of using visual cues to enhance comprehension and encourage spontaneous communication among children with limited verbal skills.
- Occupational therapies with a focus on sensory, motor, and adaptive behaviour skills are also extensively used in many settings, to improve daily living skills and adaptive behaviours in individuals with autism
- Although it is clearly essential to help children with autism minimise motor or sensory difficulties that interfere with daily functioning, few of these interventions have a strong evidence base.
Interventions for Behaviours That Challenge
- In addition to difficulties associated with the core symptoms of autism, many individuals show the patterns of behaviour that are challenging for themselves and those living or working with them
- NICE Clinical Guideline 170 on support and management for under 19s with ASD recommends that a psychosocial approach to intervention should be the first line of treatment if no coexisting mental or physical disorder has been identified as a possible underlying cause of behavioural disturbance
- Because ‘challenging behaviours’ can result in very negative and punitive consequences for individuals with autism, recent research has focused on the importance of principles based on positive behaviour support (PBS)
- These focus on the teaching of new and more effective skills to facilitate behavioural change and highlight the need to replace coercion with environmental modifications that will result in positive, durable, and meaningful change
- PBS also emphasises the need for a functional assessment of the possible causes of behavioural difficulties, modification of factors that trigger or maintain the behaviour, and the development of social and communication skills that can replace problem behaviours.
Treatments for Coexisting Conditions
- Coexisting conditions include intellectual disability, sleeping, eating and elimination problems, seizures, gastrointestinal disorders, cerebral palsy, encephalopathy, language problems, visual and hearing impairments, genetic disorders, Tourette’s syndrome and, most notably, a wide range of emotional and behavioural problems
- Assessment, diagnosis, and treatment of coexisting conditions in autism are complex and challenging as a result of symptom overlap, diagnostic overshadowing, and atypical symptom presentation
- To promote better physical and mental health and reduce the risk of premature death, systems of care must recognise and adapt to the needs of autistic people, as should be done with any vulnerable group in society. There is a need for joint working relationships between general practitioners and clinicians across many different disciplines (paediatrics, neurology, genetics, mental health, intellectual disability).
- Medication should be used with a particular caution, especially when treating mental health problems in autism. Accurate diagnosis presents many challenges. For example, the classical symptoms of depression may present very differently in autism, whereas anxiety may initially manifest as an increase in behavioural problems
- In diagnosing ADHD, it is often difficult to determine whether poor attention is because of a basic deficit in attention or concentration, whether it results from social impairments that affect shared attention with others, or if the topic or activity lie outside the individual’s own special interests
- Clinicians’ experience and understanding of all these conditions, and how their presentation may differ in autism, are essential to ensure correct diagnosis
- Very few drugs have been specifically trialled with children or adults with autism and, indeed, these groups are frequently excluded from clinical trials. Although pharmacological treatments for autism are generally ‘off label’, the prescription of such medications for coexisting conditions should follow the professional practice codes established for the general population
- Given diagnostic challenges, lack of autism-specific pharmacological trials, and the very often unpredictable response to drugs by autistic people, it is important that medications are prescribed on an individualised and experimental basis
- This requires paying careful attention to both positive and negative effects, disseminating information about the particular drug used to key people in the individual’s environment, and conducting systematic and frequent medical follow-ups
- Each medication should be started at a low dosage and the duration of treatment should be individually adjusted, depending on the coexisting condition, the patient, and the documented response. Also, whatever medication is prescribed, it is crucial that any potential benefits are weighed against the risk of side effects.
Treatments That Should Not be Used
- Despite widespread internet claims, there is no supportive evidence for diagnostic assays or treatments involving hair analysis, coeliac antibodies, allergy testing (particularly food allergies for gluten, casein, and Candida and other moulds), immunologic or neurochemical abnormalities, micronutrients such as vitamins, intestinal permeability tests, stool analysis, urinary peptides, mitochondrial disorders (including lactate and pyruvate), thyroid function tests, or erythrocyte glutathione peroxidase studies
- It is also of paramount importance to make clear that there is no association between autism and the measles, mumps, and rubella vaccine. Misinformation about vaccines and the consequent reluctance of many parents to vaccinate their children is now contributing to outbreaks of measles in parts of the world where the disease had previously been eliminated
- There are, at present, no medications to treat the ‘core’ symptoms of autism, and so-called ‘alternative’ treatments (neurofeedback, facilitated communication, auditory integration training, omega-3 fatty acids, secretin, chelation, hyperbaric oxygen therapy, exclusion diets) have no place in the treatment of core autism features.