Autism spectrum disorder (ASD) is a lifelong condition that is being viewed increasingly as an example of neurological and cognitive variation among people. It is clinically very heterogeneous. It is associated with disabilities and everyday challenges, but may also be associated with cognitive strengths and talents.
Children and adults with ASD have social communication and interaction difficulties and show restricted, repetitive, and stereotyped patterns of behaviours, interests, or activities.
Social communication impairments and ASD behaviours are present during early childhood, but may only become manifest later.
ASD is a genetic disorder of brain development, but non-genetic factors are also likely to contribute to the phenotype and its heterogeneity.
The aims of treatment are to maximise functional independence and quality of life, and to minimise distress by supporting learning, social communication, and cognitive skills, and by managing any co-occurring health problems.
Long-term outcome in adulthood is variable. Many people live either in 24-hour care or with community support; however, some people with ASD live independent lives, and some have jobs and families.
Autism spectrum disorder (ASD) is characterised by persistent impairments in social communication, and restricted, repetitive, and stereotyped patterns of behaviours, interests, or activities. Abnormal development is present during early childhood, but may only become manifest later. There may be a history of language disorder or language delay (single-word or phrase speech delay) and some children lose previously acquired language skills (regression). Children who meet the criteria have a diagnosis of 'autism spectrum disorder', additionally qualified by level of severity. Approximately 20% to 30% of children develop epilepsy, and around 30% have intellectual disability (characterised by impaired global intelligence and subsequent impaired social functioning); note that the term 'intellectual disability' as used in this topic does not refer to specific learning disorders or disabilities, such as dyslexia or dyscalculia, which may also occur in ASD. Others have ability in the average or above average range. However, many people have an uneven cognitive profile, and show relative cognitive strengths and weaknesses on cognitive testing. In addition to the core symptoms of ASD, the majority of people have coexisting difficulties (e.g., difficulties with sleep or eating). Many young people and adults with ASD have mental health problems such as anxiety and depression. People with ASD may have multiple coexisting problems or conditions concurrently; these associated conditions are often more challenging to manage than ASD itself, but can be a target for intervention or treatment.
History and exam
- diagnostic questionnaires (e.g., Autism Diagnostic Interview-Revised [ADI-R]; Developmental, Dimensional, and Diagnostic Interview [3di]; Diagnostic Interview for Social and Communication Disorders [DISCO])
- Autism Diagnostic Observational Schedule (ADOS)
- skin examination with Wood light
- genetic testing
- MRI brain
- specific testing for genetic disorders (e.g., MECP2 deletion)
Jeremy Parr, MB ChB, MRCPCH, MD
Population Health Sciences Institute
Newcastle upon Tyne
JP is a director and shareholder in XRTherapeutics, which offers virtual reality intervention for situation specific anxiety and phobia for people with autism and other conditions. He is named on a patent owned by Third Eye Neurotech and would receive royalties from this, through Newcastle University. JP previously chaired Research Autism's Scientific Advisory Committee; was an expert advisor to the National Autism Project; sits on the Autistica Discover Steering Committee; currently chairs the Autistica Physical Health and Ageing Research Group; and currently chairs the British Academy of Childhood Disability Strategic Research Group. He has not received payment for any of this activity. JP works for the UK NHS and sees children and young adults on the autism spectrum to give advice about diagnosis and treatments/interventions. JP runs research programmes focused on autism from Newcastle University, and has received grants and published research papers in that context. JP is an author of a number of references cited in this topic.
Marc Woodbury-Smith, MB ChB, PhD, MRCPsych
Clinical Senior Lecturer/Honorary Consultant
Newcastle upon Tyne
Centre for Applied Genomics
Hospital for Sick Children
MWS has received consultation fees from Servier Pharmaceuticals in connection with a clinical trial on which he was national co-ordinator (2018-2019). MWS is the co-author of references cited in this topic.
Michael Craig, MBBS, BSc(Hons), PhD, FRCOG, FRCPsych
Senior Lecturer & Honorary Consultant
Department of Forensic and Neurodevelopmental Sciences
Institute of Psychiatry
De Crespigny Park
MC declares that he has no competing interests.
Kevin Sanders, MD
Associate Clinical Professor of Psychiatry and Pediatrics
Vanderbilt Department of Psychiatry
KS declares that he has no competing interests.
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