Babies at risk for autism: Why, how, and what (do we know)? Mark Johnson.

Babies at risk for autism: Why, how, and what (do we know)?

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Mark Johnson

Superior Temporal Sulcus/Gyrus Left Frontal Operculum

Fusiform Gyrus (blue)

Orbitofrontal Cortex (red)

How does the social brain develop?

Superior Temporal Sulcus/Gyrus Left Frontal Operculum

Fusiform Gyrus (blue)

Orbitofrontal Cortex (red)

Infants at-risk for autism

Why?

• Research into early onset can get at causal factors

• Symptoms may be compounded during development

• Possibility of early intervention

Cause: The triad of impairment

Social interaction

Communication Restricted behaviors and interests

Compounding Symptoms

• In developmental disorders, initial symptoms can be compounded by atypical interactions with others and the environment

• Important to start early; e.g. over 1,000 hours of face-to-face social interaction in the first year.

Early intervention

• Medical research moving to prevention rather than cure

• Intervention programmes exist for young children already diagnosed

• Can we devise interventions for babies at highest risk, or that show early signs?

How?

• How can study the mind/brain of young babies?

• What at-risk groups are best for these studies

• What design of studies should we use?

How (can we study the mind of babies)?

Behavioral Testing

Looking measures in babies

• Preferential looking

• Habituation

• Eye-tracking

Eye-tracking in babies

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EEG/Event-related potentials

ERP Results

Optical imaging (NIRS)

Optical Imaging (NIRS)

Infants at-risk

• Children with known genetic conditions (e.g. fragile-X; 30% have ASD)

• Children with other known medical conditions (e.g. tuberous sclerosis; 24% have ASD).

• Baby brothers and sisters of older children with autism (10%+).

Design of studies

• Longitudinal design with infant measures and assessment at 3 years

• Involves a 5 year-cycle and hundreds of babies

• Currently very few studies have reached this stage

So far……

• Why? Cause, compounding, intervention

• How? New methods, study design

• What? - do we know so far?

Canadian study (Zwaigenbaum, Bryson and colleagues)

• siblings + low-risk controls

• Assessed at 6, 12, 18 and 24 months, with diagnostic assessment at 3 years

• AOSI: Autism Observation Scale for Infants

AOSI (Bryson et al. In press)

• Interactive, play-based measure of early signs of autism

• Attention & tracking

• Communication (e.g. social babbling)

• Social responses (e.g. peek-a-boo)

• Play (e.g. imitation)

• Motor control

AOSI (examples)Disengagement of visual attention Anticipation

Social babbling Imitation

Results so far

• No big differences at 6 months - most show typical social behaviours

• At 12 months differences appear in several measures (e.g. visual tracking, decreased eye contact, lack of imitation).

• By 18 months these differences are much clearer, but still only a 80-90% match with diagnosis at age 3 years

VERY preliminary conclusions

• Indicators are present in most children with ASD by 18 months

• Key features: early language, social communication, atypical attention and orienting

• Developmental trajectories vary: some show regression, others do not

• A need for more sensitive measures and methods

Infant Sibs in UK

• Collaboration with Tony Charman (ICH), Simon Baron-Cohen (Cambridge), Patrick Bolton (IOP) and others.

• Phase 0 (pilot), 31 baby siblings seen at 10 months. Currently seeing them at 3-4 years old.

• Phase 1, planned for 100 babies seen at 6, 12, 24 and 36 months

Pilot (Phase 0) study

• Parent questionnaires about temperament, medical history etc

• Standardised tests (Mullen, Vineland)

• Physical growth measurements

• Lab measures of attention and perception

Preliminary findings

• Baby sibs differ as a group from low-risk controls in subtle measures of attention and social perception

• One possible reason - this is due to a few individuals (who may go on to be diagnosed)

• Another possibility - sibs do differ as a group, but the vast majority “recover from risk” to develop typically

National Infant Sibs Network

• Funded by Autism Speaks (UK) with other charities to start in 2008

• Provides a platform for supporting and encouraging infant sibs work

• Central database with shared measures

• Meetings, workshops, and training

• [email protected]

Holly Garwood Agnes Volein Leslie Tucker Gergely Csibra Mayada Elsabbagh

Centre for Brain & Cognitive Development BabySibs team

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Thanks to:-Collaborators Tony Charman, Patrick Bolton,

Simon Baron-Cohen

-All the babies and their families

- Our funders MRC and Autism Speaks