- 1 Epidemiology
- 2 Pathophysiology
- 3 Clinical Features
- 4 Differential Diagnosis
- 5 Investigations
- 6 Management
- 7 Prognosis
- 8 References
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects a person’s social interaction, communication and behaviour.
It is usually diagnosed in childhood, with some of the key symptoms being present from before the age of three (although diagnosis may be much later than this).
In this article, we shall look at the pathophysiology, diagnosis and management of autism.
The UK prevalence of autism spectrum disorder is around 1% and is more common in boys than girls.
It is more prevalent in children that were born prematurely, although the reason for this is not yet clear. Other factors thought to increase the risk of developing ASD in the future include perinatal hypoxia and advanced maternal or paternal age.
The exact pathophysiology of autism spectrum disorder is unknown and may be multi-factoral. It is a feature of some genetic syndromes such as fragile X syndrome, tuberous sclerosis and Angelmann syndrome.
Twin studies have shown a strong genetic aetiology, but it is only recently with the development of microarray testing that specific genes are beginning to be identified. Even with recent advances, chromosomal analysis only gives a diagnosis in around 5% of cases and microarray can pick up a further 10% of cases.
The neuropathology of autism remains poorly defined, with no particular region of the brain or neuropathological mechanism identified. Although post-mortem studies and studies using neuroimaging have detected structural changes of the brain, it is not well understood how these differences can explain the resulting symptoms. 
The diagnosis of autism is largely from the history, and depends on impairments in three key areas :
Abnormality of Social Interaction
This includes the most well-known symptom of autism – poor eye contact; but it can also include failure to use facial expression or body language during social interactions; particularly with strangers.
It also includes problems making friends with peers, and difficulty in reading social situations (such as failing to pick up on others emotions).
Impaired Social Communication
This includes delay or failure to develop either spoken language or sign language to communicate with others. Also can be a failure to initiate or continue conversations.
Included in this is the abnormal use of language; either with idiosyncrasy or stereotyped language (e.g. echolalia – repetition of another person’s spoken words) or abnormal intonation, pitch, rate or rhythm of speech.
Restrictive or Repetitive activities
This includes abnormal preoccupations with subjects beyond the limits of normality. It may be a preoccupation with something unusual (traffic lights), or just an all-encompassing obsession (everything about dinosaurs down to their anatomy, classification, date they were discovered, and who by etc…).
It also includes a need for routine, with great upset if this is disrupted. There may be a need for certain rituals to be performed by themselves or others in a specific way as part of this routine (for example when going to bed there must be certain toys placed in specific places, the light switch touched a certain number of times and then the blankets placed in a certain way before the child will sleep).
There may be abnormal preoccupations with toys and other materials – for example spinning wheels on cars for the vibration it makes, or licking metal objects.
There may be “motor mannerisms” with the classical hand-flapping or other such repetitive and compulsive movements, which can occur more when the child is excited or upset.
Children with autism may also present with sensory issues that can impact significantly on their health and or quality of life. They may only eat certain foods (due to not liking the texture or needing it all to be a certain colour) and may have a severely restricted diet.
They may not tolerate loud noises or seem to have a very high pain threshold. They may self-harm (head banging or hitting themselves) as a part of their motor mannerisms (for example pinching themselves repeatedly) or as an outlet when frustrated. They may not tolerate their hair being cut or their teeth being brushed, and thus it can be a challenge for parents to maintain their child’s personal hygiene.
The examination is usually unremarkable, but its purpose is to exclude any underlying medical or genetic conditions. NICE guidelines  recommend a general examination, including looking for:
- Skin stigmata of neurofibromatosis or tuberous sclerosis using a Wood’s light.
- Signs of injury, for example self-harm or child maltreatment.
- Congenital anomalies and dysmorphic features including macrocephaly or microcephaly.
Diagnosis of Autism
Not all of the above features have to be present to make a diagnosis, however there should be features present from all three categories and one of the following features present from before the age of three years:
- A lack of social attachments.
- Abnormal / delayed receptive or expressive speech development.
- Abnormal or lack of symbolic play (e.g. having a pretend tea party).
In a case of suspected autism, the other important diagnoses to consider include:
- Learning difficulties – It can be very difficult to diagnose autism in a child with learning difficulties, although the two can co-exist – what is important to determine is if the behaviours exhibited are in line with the child’s developmental age or would be explained by the comorbid diagnosis of ASD.
- Attachment disorders – Due to the absence of adequate social and emotional interaction between the child and parent there is failure to develop a bond between them. The child may fail to seek comfort when distressed or fail to be appropriately worried when picked up by someone unfamiliar and actively seek attention from strangers.
- Rett’s Syndrome – A rare genetic syndrome occurring mostly in girls. It presents in affected girls who develop normally for the first 6 months, but then by 18 months of age begin to regress and lose skills. Marked features include speech delay and repetitive hand movements, in particular hand-wringing and flapping.
- Schizophrenia – Extremely rare in children, it can present with disordered language and odd behaviours that can also be a feature of ASD. The diagnostic criteria for schizophrenia include hallucinations and delusions which are not a feature of ASD.
- Specific language disorders – There are now separate diagnostic criteria for conditions that affect a child’s social speech and communication only. Thus this is a diagnosis that is more likely to be made by a Speech and Language therapist, as they include only the use of specific restrictions and impairments of the use of social language.
Autism spectrum disorder is a clinical diagnosis, with no specific blood or imaging tests currently available.
The main focus of investigation is to gather information to support or dismiss a diagnosis. The symptoms should be consistently present in different environments (i.e. both at home and at school) – thus at the very least a report of how the child functions at school is usually sought and a school observation may be performed.
The diagnosis should be made through a multi-disciplinary team from various agencies, and then a meeting held with all interested parties (the MDT team, parents and teachers) to come to a consensus. The MDT should ideally consist of an educational psychologist and speech therapist, as well as either a Community Paediatrician or Child Psychiatrist.
There are no medications to specifically treat autism, although medication may be required to treat other co-morbid conditions such as ADHD. Very rarely in older children with marked aggression, antipsychotic medications have been used – but these would be under the direction of a child psychiatrist.
Management techniques include behavioural management and educational measures:
- Behavioural management strategies – visual timetables, preparation and explanation for changes in routine.
Educational measures – special educational measures put in place to access mainstream schooling through an Educational Health Care Plan (previously known as a Statement of Educational Needs) or to attend a special school.
- For some of the children who are on the milder end of the spectrum, just having the diagnosis is in itself enough for school to adapt to their needs.
Adequate treatment of co-morbid conditions is also helpful; for example use of melatonin for sleep can aid the child’s behaviour and education. The most common co-morbid conditions include ADHD, sleep disorders, learning disability and mental health problems such as anxiety and depression.
The features of autism exist on a spectrum – at one end there will be children who are able to learn ways to manage their difficulties and live independent lives in successful careers with children of their own. At the other end are children who are so severely affected that they will never be able to live independently, most remaining with the family throughout their lives.
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