ASD

Question 1

A 3 year old boy is brought to your general practice as his mother is concerned that he engages poorly with other children and he only speaks 1-2 word sentences with <50 words vocabulary. While talking to his Mum, you noticed he is very fixated on playing with the wheels of his toy car. He does not make eye contact. The mother had no concerns regarding his ability to walk and run. He has recently had a normal hearing test.

Answer 1

Impression
Given poor social skills with limited eye contact, repetitive/stereotyped and fixated behaviours, and limited language development my provisional diagnosis is Autism Spectrum Disorder.

Other DDx to consider in this patient include;
- behavioural: ODD, ADHD
- neurodevelopmental: intellectual disability, language delay, global developmental delay
- other: selective mutism

Question 2

ASD - History

Answer 2

History
For diagnosis of ASD, DSM defines two domains of impaired social communication and repetitive/restricted behaviour patterns, which also incorporates altered sensory experience. Need to have these symptoms in all spheres of life, not just at home and not at pre-school etc (so would like to take collateral Hx)
- Specific: hadn’t flapping, affinity for routine, tactile, aversion to loud noises, poor social engagement, difficulty making/maintaining friends, etc
- REDFLAGS: regression in developmental milestones, concerns about growth
- paediatric Hx: growth, blue book, other milestones, obstetric hx
- social: parents literacy, NESB/CALD

Question 3

ASD - Examination

Answer 3

Examination
- General appearance - observe in play
- neuro: can have a mild hypotonia
- assess vision

Question 4

ASD - Investigations

Answer 4

Investigations
- ADOS-2: Autism diagnostic observation schedule-2
- formal hearing and vision test, intellectual testing
- Bloods: FBC, LFT, B12/folate, TFTs, lead
- psychology referral for testing

Question 5

ASD - Management

Answer 5

Management
- Paediatrician referral, child psychologist for formal diagnosis.

Psychological treatments are mainstay
- educational intervention: one-on-one, specialist educational settings
- social skill training
- optimised parenting skills

Other general/social
- parenting groups
- community support group
- NDIS funding applications
- support work
- treat co-morbidities (OCD, anxiety/depression)

Biological
- meds in the instance of co-morbid conditions; ADHD, anxiety, OCD, etc.