Overview
Autism spectrum disorder (ASD) is a persistent neurodevelopmental disorder present from childhood that significantly limits or impairs activities of daily living (ADLs) characterised by:
- Developmental impairments in social interaction and social communication such as difficulties with:
- Sharing interests/emotions or engaging in normal conversation
- Using non-verbal communication in social interactions (e.g. lack of eye contact or absence of facial expressions when interacting with people)
- Developing, maintaining, and understanding relationships
- Restricted, repetitive patterns of behaviour, interests, or activities such as:
- Stereotyped or repetitive motor movements, use of objects or speech, or idiosyncratic phases
- Highly restricted, fixed interests that are abnormal in intensity (e.g. strong attachment to unusual objects)
- Fascination with sensory aspects of the environment or over/under reactivity to sensations (e.g. adverse responses to a particular texture)
The severity of ASD ranges from subtle problems with social interaction to severe disabilities.
Asperger syndrome
Asperger syndrome is a different form of ASD where people have average or above average intelligence and do not have the learning difficulties that many people with ASD have. They usually have fewer problems with speech but have difficulties understanding and processing language.
Epidemiology
- Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders
- ASD is 3-4 times more common in boys than girls, however, ASD may be under-recognised in girls
- Around 50% of children with ASD have a learning disability
Risk Factors
Overview
The exact cause of ASD is unknown, however, the following risk factors have been identified:
- Family:
- Having a sibling with ASD
- Family history
- Pregnancy and post-partum:
- Gestational age <35 weeks
- Sodium valproate use during pregnancy
- Neonatal/epileptic encephalopathy
- Psychiatric:
- Attention deficit hyperactivity disorder (ADHD)
- Parental schizophrenia-like psychosis or affective disorder
- Learning disability
- Neurological:
- Muscular dystrophy
- Neurocutaneous disorders (e.g. neurofibromatosis, tuberous sclerosis)
- Genetic:
- Chromosomal disorders (e.g. Down’s syndrome)
- Genetic disorders (e.g. fragile X syndrome)
Presentation
The presentation of ASD can vary significantly, but the features of autism are generally apparent before 3 years of age. Some of the features of ASD can broadly be divided into:
- Interaction with others:
- Preference to being alone and relative uninterest in playing with other children
- Reduced/absent and/or poorly-regulated eye contact, facial expression, and gestures and difficulties with understanding these (difficulties with ‘reading between the lines’)
- Difficulties in forming and maintaining close friends or reciprocal relationships
- Reduced/absent awareness of personal space or unusually intolerant of people entering their personal space
- Reduced/absent imaginative or imitative behaviour
- Repetitive behaviours and unusual/restricted interests:
- Stereotyped and repetitive motor behaviours (e.g. hand flapping)
- Intense and highly specific interests/hobbies
- Strong adherence to fixed routines
- Highly repetitive behaviours/rituals that negatively impact the young person’s ADLs
- Excessive emotional distress at what might seem trivial to others (e.g. change in routine)
- Extremely restricted preferences with food
Referral
Overview
Refer to an autism team or paediatrician if there is a high chance ASD is possible due to the following:
- Children <3 years with regression of language or social developmental milestones
- Children of any age with persistent and significant limitation/impairment in ADLs
- Consider a referral for children/young people with modest limitations in ADLs if there are significant concerns of the parents/carers or the child/young person about their development or functioning
Immediately refer to a paediatrician or paediatric neurologist if ASD is suspected and any of the following apply:
- >3 years old with regression in language developmental milestones
- Any age with regression in motor developmental milestones
The diagnosis of autism is made by a specialist in autism.
Management
Overview
ASD cannot be cured and management aims to maximise independence and improve quality of life. Children with ASD are managed by a multidisciplinary team involving educational and behavioural management, counselling, and managing associated mental health or developmental disorders.
Patient Advice
- Parents/carers should be informed about ASD and the support available including:
- Contacting the child’s key worker for advice
- How to request special educational needs assessment for the child and how this can be helpful – GOV.UK has information on this
- Ensuring they are aware of the benefits they are entitled to, the National Autistic Society website has information on this
- The NHS website has lots of information for parents/carers
Complications
- During childhood:
- Difficulties in school regarding social interactions and academic achievement
- Complicated routine care (e.g. eating/sleeping)
- Challenging behaviour that may place the child or other people in potential danger
- Increased risk of anxiety and depression
- Stress in carers/siblings
- During adulthood:
- Unemployment and difficulties living independently
- Poor general health as people with ASD often do not seek help for medical problems
- Increased risk of anxiety and depression
- Social isolation
Prognosis
- ASD is a lifelong disorder and the severity of impairments in ADLs varies significantly
- Unaffected language development and no associated learning difficulties are associated with a better prognosis
- The prognosis of ASD can be improved if diagnosed and managed early