Autism Spectrum Disorder

Background

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects around 1.76% of school-age children in the UK. Multiple factors have been proposed in the aetiology of ASD, including various biological and psychological factors.

Biological factors include:

  • Genetic factors (supported by the high heritability rate)
  • Maternal health and medication use (including the use of valproate in pregnancy)
  • Neuroanatomical differences (i.e. differences in brain structure and function).

Psychological theories of ASD:

  1. The ‘Theory of Mind’ describes how children with ASD may have difficulty understanding what their peers may be thinking
  1. ‘Weak Central Coherence’ theory refers to the idea that children with ASD may focus on minutiae and details, rather than consider the ‘gist’ of information
  1. Executive Dysfunction refers to the difficulties that children with ASD can have with executive functioning (e.g. planning, flexibility, self-control)
Factors that may suggest an increased likelihood of ASD:

-History of ADHD or a learning disability

-Family History of ASD in siblings or parental psychosis

-History of seizure disorders- e.g. infantile spasms

-History of chromosomal disorders- e.g. Trisomy 21

-Other medical issues- e.g. muscular dystrophy, neurofibromatosis, tuberous sclerosis

Children with ASD may also present with co-morbid conditions such as:

-Mental health conditions- anxiety, OCD, Tourette’s, depression, eating disorders, gender dysphoria

-Neurodevelopmental conditions- cerebral palsy, ADHD, learning disabilities

-Functional problems- sleep problems, restricted diets, bladder and bowel symptoms

Epilepsy and seizure disorders

ASD is more commonly diagnosed in males, however this may be due to the under-diagnosis of ASD in females as a result of masking of symptoms or compensatory behaviours. A few theories have been proposed to explain this diagnostic discrepancy: females may be better at ‘imitating’ social skills of peers; they may have interests in more ‘typical’ areas (e.g. music); they may display features of ASD that are not currently used in diagnostic criteria e.g. perfectionism; and there may be a gender bias inherent in diagnostic instruments (due to research focussing on the male phenotype). 

Diagnosis
Clinical Features:

Individuals with ASD experience challenges in various domains: social communication and interaction, restricted and repetitive patterns of behaviour and interests, and hyper/hypo-sensitivity to sensory stimuli.

Children with ASD may have difficulties with reciprocal social interactions, for example interpreting social cues, maintaining eye contact and responding to the emotions of others. In addition, children may display limited language skills, sometimes losing previously developed speech (especially in children under 3 years old). In addition, children may have intense interests, struggle with deviations in routine, and have unusual mannerisms (such as hand flapping).

Features of ASD are usually present in a range of settings (at home or school), and cause some disruption to functioning (e.g in. social or academic settings).

Children with ASD have a range of learning and language abilities. 25-50% of individuals with ASD have learning difficulties, whereas some individuals have no difficulties with cognition or language (previously called Asperger’s syndrome).

Some people with ASD demonstrate improvements in social and communication attributes over time, however the long-term manifestations between individuals is variable and many people still display symptoms into adulthood.

Examples of clinical findings in each domain are noted in the diagram below:

asd diagnosis
Assessment:

As a clinician, consider a diagnosis of ASD where there are parental or medical concerns regarding behaviour. Keep an open mind about ASD; don’t automatically put down potential difficulties in behaviour to factors such as, difficult home environments, hearing issues, English is not a first language.

A diagnosis is usually made by specialists such as paediatricians and psychiatrists with specific training in ASD. It’s important to consider the way in which a diagnosis of ASD is delivered, since parents and young people may have preconceptions about ASD which may alter how they feel about a diagnosis.

History:

Take a comprehensive history to include: antenatal and birth history, developmental milestones, past medical history (including presence of comorbid neurological disorders/ ADHD/ learning difficulties), a social history including home and school life, and a family history.

A risk assessment should also be carried out, to look for risks of self-neglect or through harm from self-injurious behaviours. Additionally, there can be a risk from others, for example through exploitation or abuse in person and social media.

Investigations:

Standardised observational assessments, such as the ADOS (Autism Diagnostic Observation Schedule), are used to gather information relating to the various domains of ASD.

Some individuals may require further medical investigations to exclude co-morbidities, for example an EEG to look into seizure disorders, or genetic testing to look for chromosomal and genetic anomalies. Hearing and vision assessments should also be carried out in order to address any sensory difficulties.

As per NICE guidelines, in children less than 3 years old with regression in their language or social skills, consider a referral to the ASD multidisciplinary team. The ASD team generally comprises of a paediatrician, child and adolescent psychiatrist, speech and language therapist, psychologist, and occupational therapist. It is important to consider other neurodevelopmental conditions in children with regression in their motor milestones, or children over 3 years old with regression in their language or social skills.

assessment ASD

Management

The management of ASD requires a holistic, individualised approach to address challenging behaviours, treat comorbidities, optimise educational opportunities, and support families. Medications are not used for managing core symptoms of ASD. Comprehensive management should include the following areas:

  • Psychoeducation, i.e. providing accurate and understandable information about a condition to families is hugely important following diagnosis.
  • Connecting parents to ‘parental support groups’ may help parents navigate a diagnosis of ASD by speaking to other families in the same position.
  • Environmental adaptations may help address the needs of individuals with ASD, for example some children may be sensitive to light or noise levels or require daily structured timetables of activities.
  • Children may be taught different methods of communication, such as the Picture Exchange Communications System (PECS) to communicate their needs.
  • Therapies such as ‘Early Intervention Behavioural Intervention’ (EIBI) may be used to support children with their social and communication skills. These interventions usually start before children have started school or when they are at preschool age. N.B. Some therapies that encourage children to alter behaviours related to ASD are controversial, since some people believe that they encourage children to model ‘neurotypical’ behaviours, which may not be beneficial or desired by the child.
  • Other therapies, such as speech and language therapy, physiotherapy, and occupational therapy, may be beneficial to children with ASD.
  • Comorbid conditions can be managed using non-pharmacological means (e.g. therapies) in the first instance, but medication may be required.
  • ASD teams can help support families through the process of choosing a school (mainstream/special educational), or deciding on vocations. Teams can also help families to apply for an ‘Education, Health and Care (EHC) Plan’ via the local authority, which sets out any further educational support that may be available to children with ASD.
management ASD

Take home messages

-Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that commonly persists into adulthood

-Individuals present with difficulties with social communication and interaction, restricted and repetitive patterns of behaviour and interests, and hyper/hypo-sensitivity to sensory stimuli

-Individuals commonly present with comorbid conditions such as anxiety disorders, neurodevelopmental disorders, seizure disorders, or functional issues (such as with sleep or eating)

-Diagnosis is made by a specialist paediatrician or psychiatrist

-Management involves a holistic, individualised approach to supporting the individual in their home, school, and social life, as well as supporting families

References

Journal articles:

Prevalence of ASD: https://jamanetwork.com/journals/jamapediatrics/fullarticle/2777821

Websites:

ICD11

NICE Guidelines

NICE CKS

BMJ Best Practice

Books:

Shorter Oxford Textbook of Psychiatry 7 edn, P Harrison P Cohen, T Burns, M Fazel

Written by: Dr Anya Baig (FY2, Royal Free London NHS Foundation Trust)

Edited by: Dr Aleksandra Szczap (ST6 in CAMHS, Tavistock and Portman NHS Foundation Trust)

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