Autism spectrum disorder (Part 3) – Is this autism?

Charlie is sitting in the corner of your room and refuses to look or speak to you. He has no interest in you or your room. Mum wants to know…is he just naughty or is this autism? 

Before you get started, why not catch up…

Autism Spectrum Disorder (Part 1) – What’s in a name?

Autism Spectrum Disorder (Part 2) – Why is this happening to me?!

What are the DSM diagnostic criteria for autism?

1. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text):

  • Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
  • Deficits in nonverbal communicative behaviours used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
  • Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behaviour to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

2. Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following, currently or by history:

  • Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
  • Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behaviour (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day).
  • Highly restricted, fixated interests that are abnormal in intensity or focus (e.g, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interest).
  • Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

3. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).

4. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

5. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

 

If a diagnosis is established, it is important – from a prognostication and funding point of view – to determine the severity of diagnosis which is assessed based on social/communication and behaviours separately.

 

Severity

 

 

 

Specify if:

  • With or without intellectual impairment
  • With or without accompanying language impairment
  • Associated with a known medical or genetic condition or environmental factor
  • Associated with another neurodevelopmental, mental or behavioural disorder
  • With catatonia

 

What are some red flags for autism outside of the stereotyped averbal child that flaps and loves dinosaurs?

  • Not responding to their name by 12 months of age
  • Not pointing at objects to show interest by 14 months
  • Not playing “pretend” games by 18 months eg. Feed a baby doll
  • Avoid eye contact and want to be alone
    • Baby that doesn’t put their arms up to be picked up
    • Content to be left alone in their cot
  • Have trouble understanding other people’s feelings
  • Echolalia (repeating words/phrases)
  • Give unrelated answers to questions
  • Flap their hands, rock their body, spin in circles or toe walking
  • Restricted interests eg. Specific TV ads, drains
  • Have unusual reactions to the way things sound, smell, taste, look, or feel eg. Fluttering fingers in front of eyes to watch lights flicker

 

How to make a diagnosis?

Each state in Australia has different legislature on whom can make a diagnosis, be it a general paediatrician, developmental paediatrician, a child psychiatrist or a multidisciplinary panel. Regardless, unless the child has severe level 3 autism, diagnosis should not be made in a one off visit. It should involve input from not only the medical assessment but also the family as well as the child’s school/childcare environment. It is important to consider other mimics that may result in an autism-like picture. They may benefit from different supports for the family eg. history of trauma/attachment disorder that may result in poor eye contact presenting similar to autism diagnosis. The “Coventry Grid” can be useful for helping clinicians to recognize some of the subtle differences. 

 

Diagnosis should include:

  • Detailed history from primary caregiver
    • Medical
    • Developmental
    • Behavioural
    • Family history (including 3 generation pedigree and enquiring specifically regarding consanguinity)
  • Physical examination
  • Developmental +/- psychometrical evaluation

 

Tools that may be useful include:

  • Childhood autism rating scale (CARS)
  • Gilliam Autism rating scale  (GARS)
  • Modified Checklist for Autism in Toddlers (MCHAT)
  • Autism diagnostic observation schedule
  • Autism diagnostic interview

 

The most useful test is a thorough history with the caregiver and their childcare/school provider. When unsure regarding diagnosis, referral to specifically trained personel is encouraged due to the inherent stigma associated with the lifelong diagnosis of autism.

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About 

Mary is an advanced trainee in General Paediatrics/Community and Developmental Paediatrics. Has called Townsville home for the last decade. Outside of work, she enjoys eating and Crossfit (one of 'those people'!)

Author: Mary Hardimon Mary is an advanced trainee in General Paediatrics/Community and Developmental Paediatrics. Has called Townsville home for the last decade. Outside of work, she enjoys eating and Crossfit (one of 'those people'!)

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