Recognising and diagnosing autism in children and young people: summary of NICE guidance
BMJ 2011; 343 doi: https://doi.org/10.1136/bmj.d6360 (Published 21 October 2011) Cite this as: BMJ 2011;343:d6360
- Gillian Baird, consultant paediatrician1, professor of paediatric neurodisability 1,
- Hannah Rose Douglas2,
- associate director,
- M Stephen Murphy, clinical codirector2
- 1Newcomen Centre, Guy’s Hospital, London SE1 9RT, UK
- 2National Collaborating Centre for Women’s and Children’s Health, Kings Court, London W1T 2QA
- Correspondence to: G Baird gillian.baird{at}gstt.nhs.uk
Autism affects children, young people, and adults and describes qualitative difference and impairments in reciprocal social interaction and communication behaviours combined with a restricted range of interests and rigid or repetitive behaviours. Autism is diagnosed when features meet the criteria defined in the ICD-10 (international classification of diseases, 10th revision)1 and the DSM-IV-TR (diagnostic and statistical manual of mental disorders, fourth edition, revised)2 for “pervasive developmental disorder” and have a considerable impact on function. Core autism behaviours are typically present in early childhood, but are not always apparent until the circumstances of the child or young person change—for example, when the child goes to nursery or primary school or moves to secondary school. Autism is also associated with several coexisting conditions including neurodevelopmental, medical, and mental health problems. Autism was once thought to be an uncommon developmental disorder, but recent studies have reported increased prevalence and the condition is now thought to occur in at least 1% of children.3 4 5 This has increased demand for diagnostic services for children and young people of all ages in the health service. This article summarises the most recent recommendations from the National Institute for Health and Clinical Excellence (NICE) on how to recognise and diagnose autism in children and young people up to the age of 19 years.6 This summary focuses on recommendations for the non-specialist on how to recognise the condition and when to refer to a specialist autism team.
Recommendations
NICE recommendations are based on systematic reviews of best available evidence and explicit consideration of cost effectiveness. When minimal evidence is available, recommendations are based on the Guideline Development Group’s experience and opinion of what constitutes good practice. Evidence levels for the recommendations are given in italic in square brackets.
Recognition of autism
Whenever concerns are raised by parents or by the child or young person, always take the concerns seriously, even if these are not shared by others.
Consult the NICE guideline’s tables of signs and symptoms for autism if there are any concerns raised by parents, professionals, or the child or young person. The tables (published as boxes 1-3 here) are intended to alert professionals to the possibility of autism in a child or young person about whom concerns have been raised. They are not intended to be used alone, but to help professionals recognise a pattern of impairments in reciprocal social and communication skills, together with unusual restricted and repetitive behaviours.
When considering the possibility of autism, be aware that:
-Signs and symptoms should be seen in the context of the child’s or young person’s overall development
-When older children or young people present for the first time with possible autism, signs or symptoms may have previously been masked by the child or young person’s coping mechanisms and/or a supportive environment
-It is necessary to take account of cultural variation, but do not assume that language delay is accounted for by early hearing difficulties or because English is not the family’s first language; ask about the child or young person’s use and understanding of their first language
-Autism may be missed in those with an intellectual disability
-Autism may be missed in those who are verbally able
-Autism may be underdiagnosed in girls
-Signs and symptoms may not be accounted for by disruptive home experiences or a parent’s or carer’s mental or physical illness.
Do not rule out autism because of:
-Good eye contact, smiling, and showing affection to family members
-Reported pretend play or normal language milestones
-Difficulties seeming to resolve after a needs based intervention (such as a supportive structured learning environment)
-A previous assessment that concluded that there was no autism, if new information becomes available.
[All the above points are based on the experience and opinion of the Guideline Development Group (GDG)]
Box 1 Signs and symptoms of possible autism in preschool children (or equivalent mental age)
Social interaction and reciprocal communication behaviours
Spoken language
Language delay (in babble or words—for example, using fewer than 10 words by the age of 2 years)
Regression in or loss of use of speech
Spoken language (if present) may include unusual features, such as: vocalisations that are not speech-like; odd or flat intonation; frequent repetition of set words and phrases (echolalia); reference to self by name or “you” or “she” or “he” beyond age 3 years
Reduced and/or infrequent use of language for communication—for example, use of single words, although able to speak in sentences
Responding to others
Absent or delayed response to name being called, despite normal hearing
Reduced or absent responsive social smiling
Reduced or absent responsiveness to other people’s facial expressions or feelings
Unusually negative response to the requests of others (“demand avoidance” behaviour)
Rejection of cuddles initiated by parent or carer, although the child himself or herself may initiate cuddles
Interacting with others
Reduced or absent awareness of personal space, or unusually intolerant of people entering their personal space
Reduced or absent social interest in others, including children of his or her own age—may reject others; if interested in others, he or she may approach others inappropriately, seeming to be aggressive or disruptive
Reduced or absent imitation of others’ actions
Reduced or absent initiation of social play with others, plays alone
Reduced or absent enjoyment of situations that most children like—for example, birthday parties
Reduced or absent sharing of enjoyment
Eye contact, pointing, and other gestures
Reduced or absent use of gestures and facial expressions to communicate (although may place an adult’s hand on objects)
Reduced and poorly integrated gestures, facial expressions, body orientation, eye contact (looking at people’s eyes when speaking), and speech used in social communication
Reduced or absent social use of eye contact (assuming adequate vision)
Reduced or absent “joint attention” (when one person alerts another to something by means of gazing, finger pointing, or other verbal or non-verbal indication for the purpose of sharing interest). This would be evident in the child from lack of:
-Gaze switching
-Following a point (looking where the other person points to—may look at hand)
-Using pointing at or showing objects to share interest
Ideas and imagination
Reduced or absent imagination and variety of pretend play
Unusual or restricted interests and/or rigid and repetitive behaviours
Repetitive “stereotypical” movements such as hand flapping; body rocking while standing; spinning; finger flicking
Repetitive or stereotyped play—for example, opening and closing doors
Overfocused or unusual interests
Excessive insistence on following own agenda
Extremes of emotional reactivity to change or new situations; insistence on things being “the same”
Over-reaction or under-reaction to sensory stimuli, such as textures, sounds, smells
Excessive reaction to the taste, smell, texture, or appearance of food, or having extreme food fads
Box 2 Signs and symptoms of possible autism in primary school children (aged 5-11 years, or equivalent mental age)
Social interaction and reciprocal communication behaviours
Spoken language
Spoken language may be unusual: very limited use; monotonous tone; repetitive speech, frequent use of stereotyped (learnt) phrases; content dominated by excessive information on topics of own interest; talking “at” others rather than sharing a two way conversation; responses to others can seem rude or inappropriate
Responding to others
Reduced or absent response to other people’s facial expression or feelings
Reduced or delayed response to name being called, despite normal hearing
Subtle difficulties in understanding another’s intentions; may take things literally and misunderstand sarcasm or metaphor
Unusually negative response to the requests of others (“demand avoidance” behaviour)
Interacting with others
Reduced or absent awareness of personal space, or unusually intolerant of people entering their personal space
Reduced or absent social interest in people, including children of his or her own age—may reject others; if interested in others, may approach others inappropriately, seeming to be aggressive or disruptive
Reduced or absent greeting and farewell behaviours
Reduced or absent awareness of socially expected behaviour
Reduced or absent ability to share in the social play or ideas of others, plays alone
Unable to adapt style of communication to social situations—for example, may be overly formal or inappropriately familiar
Reduced or absent enjoyment of situations that most children like
Eye contact, pointing, and other gestures
Reduced and poorly integrated gestures, facial expressions, body orientation, eye contact, and speech used in social communication
Reduced or absent social use of eye contact (assuming adequate vision)
Reduced or absent joint attention shown by lack of:
-Gaze switching
-Following a point (looking where the other person points to—may look at hand)
-Using pointing at or showing objects to share interest
Ideas and imagination
Reduced or absent flexible imaginative play or creativity, although scenes seen on visual media such as television may be re-enacted
Makes comments without awareness of social niceties or hierarchies
Unusual or restricted interests and/or rigid and repetitive behaviours
Repetitive stereotypical movements such as hand flapping; body rocking while standing; spinning; finger flicking
Play is repetitive and oriented towards objects rather than people
Overfocused or unusual interests
Rigid expectation that other children should adhere to rules of play
Excessive insistence on following own agenda
Extremes of emotional reactivity that are excessive for the circumstances
Strong preferences for familiar routines and things being “just right”
Dislike of change, which often leads to anxiety or other forms of distress (including aggression)
Over-reaction or under-reaction to sensory stimuli, such as textures, sounds, smells
Excessive reaction to the taste, smell, texture, or appearance of food, or having extreme food fads
Other factors that may support concern about possible autism
Unusual profile of skills or deficits—for example, poorly developed social or motor coordination skills, whereas particular areas of knowledge, reading, or vocabulary skills are advanced for chronological or mental age
Social and emotional development more immature than other areas of development, excessive trusting (naivety), lack of common sense, less independent than peers
Box 3 Signs and symptoms of possible autism in secondary school children (older than 11 years, or equivalent mental age)
Social interaction and reciprocal communication behaviours
Spoken language
Spoken language may be unusual: very limited use; monotonous tone; repetitive speech, frequent use of stereotyped phrases; content dominated by excessive information on topics of own interest; talking “at” others rather than sharing a two way conversation; responses to others can seem rude or inappropriate
Interacting with others
Reduced or absent awareness of personal space, or unusually intolerant of people entering their personal space
Longstanding difficulties in reciprocal social communication and interaction: few close friends or reciprocal relationships
Reduced or absent understanding of friendship; often an unsuccessful desire to have friends (although may find it easier with adults or younger children)
Social isolation and apparent preference for aloneness
Reduced or absent greeting and farewell behaviours
Lack of awareness and understanding of socially expected behaviour
Problems losing at games, taking turns, and understanding “changing the rules”
May seem unaware or uninterested in what other young people of his or her age are interested in
Unable to adapt style of communication to social situations—for example, may be overly formal or inappropriately familiar
Subtle difficulties in understanding another’s intentions; may take things literally and misunderstand sarcasm or metaphor
Makes comments without awareness of social niceties or hierarchies
Unusually negative response to the requests of others (demand avoidance behaviour)
Eye contact, pointing, and other gestures
Poorly integrated gestures, facial expressions, body orientation, eye contact (looking at people’s eyes when speaking) assuming adequate vision, and spoken language used in social communication
Ideas and imagination
History of a lack of flexible, social imaginative play and creativity, although scenes seen on visual media such as television may be re-enacted
Unusual or restricted interests and/or rigid and repetitive behaviours
Repetitive stereotypical movements such as hand flapping; body rocking while standing; spinning; finger flicking
Preference for highly specific interests or hobbies
A strong adherence to rules or fairness that leads to argument
Highly repetitive behaviours or rituals that negatively affect the young person’s daily activities
Excessive emotional distress at what seems trivial to others—for example, change in routine
Dislike of change, which often leads to anxiety or other forms of distress including aggression
Over-reaction or under-reaction to sensory stimuli, such as textures, sounds, smells
Excessive reaction to the taste, smell, texture, or appearance of food, and/or having extreme food fads
Other factors that may support a concern about autism
Unusual profile of skills or deficits—for example, poorly developed social or motor coordination skills, whereas particular areas of knowledge, reading, or vocabulary skills are advanced for chronological or mental age
Social and emotional development more immature than other areas of development, excessive trusting (naivety), lack of common sense, less independent than peers
Be aware that tools to identify children and young people with an increased likelihood of autism (secondary screening) may be useful in gathering information about signs and symptoms of autism in a structured way but are not essential and should not be used to make or rule out a diagnosis of autism. [Based on low quality observational studies]
Be aware that if parents or carers or the child or young person have not suspected a developmental or behavioural condition, raising the possibility may cause distress, and that:
-It may take time for them to come to terms with the concern
-They may not share the concern.
[Based on the experience and opinion of the GDG].
Referring children and young people to the autism team
Consider referral to the autism team if you are concerned about possible autism on the basis of reported or observed signs and/or symptoms. Take account of:
-The severity and duration of the signs and/or symptoms
-The extent to which the signs and/or symptoms are present across different settings (for example, home and school)
-The impact of the signs and/or symptoms on the child or young person and on their family
-The level of parental or carer’s concern and, if appropriate, the concerns of the child or young person
-Factors associated with an increased prevalence of autism (box 4)
-The likelihood of an alternative diagnosis.
If you have concerns about development or behaviour but are not sure whether the signs and/or symptoms suggest autism, consider consulting a member of the autism team.
[All the above points are based on the experience and opinion of the guideline development group]
Box 4 Factors associated with an increased prevalence of autism
A sibling with autism
Birth defects associated with central nervous system malformation and/or dysfunction, including cerebral palsy
Gestational age <35 weeks
Parental schizophrenia-like psychosis or affective disorder
Maternal use of sodium valproate in pregnancy
Intellectual disability
Neonatal encephalopathy or epileptic encephalopathy, including infantile spasms
Chromosomal disorders such as Down’s syndrome
Genetic disorders such as fragile X
Muscular dystrophy
Neurofibromatosis
Tuberous sclerosis
[Based on low quality observational studies]
Refer children younger than 3 years to the autism team if there is regression in language or social skills.
Refer first to a paediatrician or paediatric neurologist (who can refer to the autism team if necessary) children and young people who are:
-Older than three years with regression in language
-Of any age with regression in motor skills.
Discuss referral with the parent carer and where appropriate the child or young person.
When referring to the autism team, include in the referral letter the following information:
-Reported information from parents, carers, and professionals about signs and/or symptoms of concern
-Your own observations of the signs and/or symptoms
-Additional information (if you consider it is needed), such as information from school or nursery (gain consent)
-If available, antenatal and perinatal history, developmental milestones, factors associated with an increased prevalence of autism (box 4), relevant medical history and investigations, information from previous assessments.
If you do not think concerns are sufficient to prompt a referral, consider a period of watchful waiting.
If a concern about possible autism has been raised but there are no signs, symptoms, or other reasons to suspect autism, use professional judgment to decide what to do next.
Be self critical about your professional competence and seek advice if in doubt about the next step.
[All the above points are based on the experience and opinion of the GDG]
Overcoming barriers
Many pathways for diagnosing autism in children and young people exist but often do not include the whole population up to age 19 years. In particular, there is a lack of services for those children and young people of all ages who have a coexisting intellectual disability. The guideline recommends that in each area a multidisciplinary group (the autism team) should be set up. The team, which should include professionals competent to diagnose autism, should consider the differential diagnosis and either have the skills (or have access to professionals with the skills) needed to carry out a diagnostic assessment for autism in children and young people with special circumstances (including coexisting conditions such as severe visual and hearing impairments; motor disorders including cerebral palsy; severe intellectual disability; complex language disorders; and complex mental health disorders). The diagnostic assessment should enable development of a profile of the child’s or young person’s strengths, skills, impairments and needs that can be used to create a needs based management plan, taking into account family and educational context.
Identifying a group of professionals to join the autism team who are able to assess groups of all ages and intellectual abilities, recognise coexisting physical and mental health conditions, and complete the profile may be challenging for some current services and has training implications. But by working and planning across agencies this should be achievable—for example, by minimising the current repetition of assessments.
Further information on the guidance
Methods
This guidance was developed by the National Collaborating Centre for Women’s and Children’s Health in accordance with NICE guideline development methods (www.nice.org.uk/guidelinesmanual). A Guideline Development Group was established by the National Collaborating Centre for Women’s and Children’s Health, which incorporated healthcare professionals who work with children and young people with autism, parents of children with autism, and experts in guideline methodology. The group identified relevant clinical questions, collected and appraised clinical evidence, and evaluated the cost effectiveness of proposed interventions where possible. The draft guideline underwent a rigorous reviewing process during which stakeholder organisations were invited to comment; the group took all comments into consideration when producing the final version of the guideline.
NICE has produced four different versions of the guideline: a full version containing all the evidence, the process undertaken to develop the recommendations, and all the recommendations; a quick reference guide; a version containing a list of all the recommendations, known as the “NICE guideline”; and a version for patients and the public. All these versions are available from the NICE website (www.nice.org.uk/CG128). In addition, the guideline recommendations have been incorporated into the NICE Pathway on autism which is available from the NICE website (http://pathways.nice.org.uk/). Further updates of the guidance will be produced as part of the NICE guideline development programme.
Future research
Does training professionals to recognise signs and symptoms of autism lead to earlier assessment of needs and earlier diagnosis (and by implication reduce morbidity and improve health outcomes) among children and young people with suspected autism compared with no training?
Does routine additional information from educational settings (such as nursery or school) improve accuracy in diagnosis among children or young people up to the age of 19 compared with signs and symptoms alone?
Do additional assessments (for IQ, language ability, and motor ability) improve accuracy in diagnosis among preschool children (younger than 5 years) compared with signs and symptoms alone?
What is the effectiveness and acceptability of comparative genomic hybridisation array compared with current genetic testing in children and young people with identified autism?
Notes
Cite this as: BMJ 2011;343:d6360
Footnotes
This is one of a series of BMJ summaries of new guidelines based on the best available evidence; they highlight important recommendations for clinical practice, especially where uncertainty or controversy exists.
Contributors: All authors wrote the initial draft of the article using material produced collectively by the Guideline Development Group and revised the draft after receiving comments from the BMJ series editor. All authors approved the final version for publication. HRD is the guarantor.
Funding: The National Collaborating Centre for Women’s and Children’s Health was commissioned and funded by the National Institute for Health and Clinical Excellence to develop this guideline and summary.
Competing interests: All authors have completed the ICMJE uniform disclosure form at www.icmje.org/coi_disclosure.pdf (available on request from the corresponding author) and declare: all authors have support from the National Institute for Health and Clinical Excellence for the submitted work; all authors have no relationships with companies that might have an interest in the submitted work; and all authors have no non-financial interests that may be relevant to the submitted work.
The members of the Guideline Development Group are Susan Anderson, Carol Bagnall, Gillian Baird, Tony Charman, Diana Howlett, Anne Marie McKigney, Ann Le Couteur, Jamie Nicholls, Sharon Richman, Lorraine Scott, Emily Simonoff, Zoe Thompson, and Penny Williams.
Provenance and peer review: Commissioned; not externally peer reviewed.