Autism spectrum disorders

Pre-referral guidelines for primary care providers

Autism spectrum disorders (ASDs) are a group of conditions characterised by the presence of difficulties in social communication and interactions plus restrictive, repetitive behaviours. Both of these deficits are required for a diagnosis, and must be present in early development and causing significant functional impairment.

Note that the previous diagnostic terms of Asperger's syndrome, Autism and Pervasive Developmental Disorder (Not Otherwise Specified) are now incorporated into the single diagnosis of Autism Spectrum Disorder in DSM-V, and are no longer appropriate diagnoses in their own right.

Diagnosis

Diagnosis of an ASD requires multidisciplinary input. This can either be undertaken through a combination of various individual professionals (e.g. paediatrician, speech pathologist and psychologist), or through a multidisciplinary assessment team.

Assessment involved a comprehensive medical and developmental history, observation of the child, medical assessment to exclude other differentials, language & communication assessment and a cognitive assessment. There are no standard blood tests or imaging that are routinely undertaken in assessment of an ASD, however after paediatrician input certain tests may be deemed reasonable to detect underlying causes or differentials (e.g. SNP microarray).

Be aware that may traits commonly associated with ASDs are seen in developmentally normal children (e.g. solitary play, lining up objects, obsessional interests). It is also common for ASD traits to be seen in children with developmental delay and/or intellectual disability, particularly when the personal/social and language delays are prominent.

Various screening tools exist for the assessment of ASD, such as the M-CHAT (for toddlers), CHAT (for 18-36 months) and CARS-2 (Childhood Autism Rating Scale).

Validated diagnostic tools include:

  • ADOS (Autism Diagnostic Observational Scales)
  • ADI-R (Autism Diagnostic Instrument - Revised)
  • 3di (Developmental, Dimensional, Diagnostic interview)

Practice points

  • Autism spectrum disorder (ASD) traits are commonly seen in children with developmental delay and intellectual disability, thus caution must be undertaken when considering the diagnosis in these children.
  • Funding through the Department of Education & Early Childhood Development requires a diagnosis of ASD plus a language disorder less than two standard deviations (score <70) below the mean.
  • There is no known cause for ASD. Although many different genes have been implicated, and many and varied associations proposed, no data has consistently provided answers to this question.
  • There is no cure for ASD. Studies have also shown limited consistent effect with any treatment options to improve symptoms of ASD (e.g. gluten free diets, behavioural therapies)
  • There is no link between MMR vaccine and ASD. This research has been shown to be fraudulent, and convincingly debunked with subsequent studies.

Management

There is no cure for ASD. Studies have also shown limited consistent effect with any treatment options to improve symptoms of ASD (e.g. gluten free diets, behavioural therapies).

The management of ASD is essentially a combination of strategies to assist the behavioural and developmental difficulties that are present in ASD. This may include a combination of any of psychology, speech pathology, occupational therapy, play therapy, education advice, Early Childhood Early Intervention (ECEI) and other services depending on the child's needs. Medication may be used for control of co-morbid symptoms.

Note that there are many services offering multiple varied behavioural, dietary and other therapies for ASD, often with limited or consistent evidence to support efficacy. Each family will need to decide what they feel is best for their own child.

Consultation with either the Ballarat Autism Network, AMAZE (formerly Autism Victoria), a registered local ASD specific service provider (Pinarc or Clear Messages), a psychologist or a paediatrician will be able to assist with much of this - see Autism Services index for further details.

Referral pathways

  • Paediatrician
  • Psychology services
    • A referral to psychology is appropriate for either therapy for ASD (see Autism Services index) or for diagnostic assessment for ASD.
  • Speech pathology
    • A referral to speech pathology is appropriate for either therapy for ASD (see Autism Services index) or for diagnostic assessment for ASD.