Autism: recognition, referral and diagnosis of children and young people on the autism spectrum

Autism: recognition, referral and diagnosis of children and young people on the autism spectrum
National Collaborating Centre for Women‟s and Children‟s Health
Commissioned by the National Institute for Health and Clinical Excellence
September 2011
Published by the RCOG Press at the Royal College of Obstetricians and Gynaecologists, 27 Sussex
Place, Regent‟s Park, London NW1 4RG
www.rcog.org.uk
Registered charity no. 213280
First published 2011
© 2011 National Collaborating Centre for Women‟s and Children‟s Health

Contents
Guideline development group membership and acknowledgements 1
1 Summary of recommendations and care pathway 3
1.1 Introduction 3
1.2 Key priorities for implementation 4
1.3 Recommendations 7
1.4 Key research recommendations 24
1.5 Care pathway 25
2 Development of the guideline 32
2.1 Introduction 32
2.2 Aim and scope of the guideline 37
2.3 For whom is this guideline intended? 38
2.4 Other relevant documents 39
2.5 Who has developed the guideline 39
2.6 Guideline development methodology 40
2.7 Specific considerations for this guideline 47
2.8 Schedule for updating the guidance 47
3 Recognition 48
Introduction 48
Clinical question 48
3.1 Overview of the evidence 48
3.2 Evidence profile 49
3.3 Evidence statement 54
3.4 Evidence to recommendations 54
Recommendations 59
3.5 Research recommendations 67
4 Following referral 70
Introduction 70
Clinical questions 70
4.1 Overview of the evidence: tools to identify an increased likelihood of autism spectrum disorders
(ASD) 70
4.2 Evidence profiles: tools to identify an increased likelihood of ASD 71
4.3 Evidence statements: tools to identify an increased likelihood of ASD 74
4.4 Evidence to recommendations: tools to identify an increased likelihood of autism 75
Recommendations 76
4.5 Overview of the evidence: risk factors 76
4.6 Evidence profiles: risk factors 76
4.7 Evidence statements: risk factors 82
4.8 Evidence to recommendations: risk factors 82
4.9 Overview of the evidence: conditions with an increase risk of ASD 82
4.10 Evidence profiles: conditions with an increased prevalence of ASD 83
4.11 Evidence statements: conditions with an increased prevalence of ASD 86
4.12 Evidence to recommendations: risk factors and conditions with an increased prevalence of
autism 86
Recommendations 87
4.13 Overview of the evidence: information from other sources 88
4.14 Evidence profile: information from other sources 88
4.15 Evidence statement: information from other sources 89
Autism in children and young people
iv
4.16 Evidence to recommendations: information from other sources 89
Recommendations 90
4.17 Research recommendations: information from other sources 91
5 Diagnostic assessment 93
Introduction 93
Clinical questions 93
5.1 Overview of the evidence: accuracy of assessment tools 94
5.2 Evidence profiles: accuracy of assessment tools 94
5.3 Evidence statement: accuracy of assessment tools 99
5.4 Evidence to recommendations: accuracy of assessment tools 99
5.5 Overview of the evidence: agreement between assessment tools 99
5.6 Evidence profiles: agreement between assessment tools 99
5.7 Evidence statement: agreement between assessment tools 99
5.8 Evidence to recommendations: agreement between assessment tools 100
5.9 Overview of the evidence: other assessment tools to assist interpretation of the autism-specific
diagnostic tools 100
5.10 Evidence profiles: other assessment tools to assist interpretation of the autism-specific
diagnostic tools 100
5.11 Evidence statement: other assessment tools to assist interpretation of the autism-specific
diagnostic tools 100
5.12 Evidence to recommendations: other assessment tools to assist interpretation of the autismspecific
diagnostic tools 100
5.13 Overview of evidence: agreement between a single clinician and a panel of clinicians when
making a diagnosis 100
5.14 Evidence profile: agreement between a single clinician and a panel of clinicians when making a
diagnosis 101
5.15 Evidence statement: agreement between a single clinician and a panel of clinicians when
making a diagnosis 103
5.16 Evidence to recommendations: agreement between a single clinician and a panel of clinicians
when making a diagnosis 103
5.17 Overview of the evidence: stability of ICD-10 and DSM-IV-TR criteria 103
5.18 Evidence profiles: stability of ICD-10 and DSM-IV-TR criteria 103
5.19 Evidence statement: stability of ICD-10 and DSM-IV-TR criteria 107
5.20 Evidence to recommendations for sections 5.1–5.19 107
Recommendations 112
5.21 Research recommendations 114
5.22 Overview of the evidence: communicating diagnosis to the family 116
5.23 Evidence profile: communicating diagnosis to the family 116
5.24 Evidence statements: communicating diagnosis to the family 123
5.25 Evidence to recommendations: communicating diagnosis to the family 124
Recommendations 125
5.26 Overview of the evidence: actions that should follow assessment for children and young people
who are not immediately diagnosed 126
5.27 Evidence profile: actions that should follow assessment for children and young people who are
not immediately diagnosed 126
5.28 Evidence statement: actions that should follow assessment for children and young people who
are not immediately diagnosed 126
5.29 Evidence to recommendations: actions that should follow assessment for children and young
people who are not immediately diagnosed 127
Recommendations 128
6 Differential diagnosis 129
Introduction 129
Clinical question 129
6.1 Overview of the evidence: identifying differential diagnoses 129
6.2 Evidence profile: identifying differential diagnoses 129
6.3 Evidence statements: identifying differential diagnoses 138
6.4 Evidence to recommendations: identifying differential diagnoses 140
Contents
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6.5 Overview of the evidence: identifying features that differentiate ASD from other conditions 140
6.6 Evidence profiles: identifying features that differentiate ASD from other conditions 140
6.7 Evidence statements: identifying features that differentiate ASD from other conditions 140
6.8 Evidence to recommendations: identifying features that differentiate autism from other
conditions 140
Recommendations 143
7 Assessment of coexisting conditions 144
Introduction 144
Clinical question 144
7.1 Overview of the evidence 144
7.2 Evidence profiles 145
7.3 Evidence statements 150
7.4 Evidence to recommendations 151
Recommendations 153
8 Medical investigations 154
Introduction 154
Clinical question 154
8.1 Overview of the evidence 155
8.2 Evidence profiles 157
8.3 Evidence statements 170
8.4 Evidence to recommendations 172
Recommendations 176
8.5 Research recommendations 176
9 Information and support 179
Introduction 179
Clinical questions 179
9.1 Overview of the evidence: information during the process of referral, assessment and
diagnosis 179
9.2 Evidence profile: information during the process of referral, assessment and diagnosis 179
9.3 Evidence statement: information during the process of referral, assessment and diagnosis 183
9.4 Evidence to recommendations: information during the process of referral, assessment and
diagnosis 184
Recommendations 185
9.5 Overview of the evidence: support for children, young people, their families and carers 186
9.6 Evidence profile: support for children, young people, their families and carers 186
9.7 Evidence statement: support for children, young people, their families and carers 191
9.8 Evidence to recommendations: support for children, young people, their families and carers 192
Recommendations 194
10 Service descriptions and resource use 195
10.1 Introduction 195
10.2 Descriptions of specific autism diagnostic services 197
10.3 Estimating resource use for an autism specific assessment 203
10.4 Conclusion 210
11 References, abbreviations and glossary 211
11.1 References 211
11.2 Abbreviations 225
11.3 Glossary 228