Knowledge Exchange in Autism Spectrum Disorders (ASD)

Knowledge Exchange in ASD

Dr Dawn Wimpory,Jt Appointment: Lecturer/ Consultant Child Clinical

Psychologist – Lead for Autism, BCUHB & Bangor University.

Professor Sue Leekam,Wales Autism Research Centre,

Cardiff University.

Dr Brad Nicholas,Research Officer, Bangor University

Interlinked Research, Clinical & Service Development ASD Projects

Recent:• Policy Practice Research Hub• ASD Research/Service Development DatabaseTiming-based theoretical understanding of ASD underpinned by longer established research:• Molecular genetics (clock genes)• Musical Interaction Therapy (action research)ie Clin Practice informing research & vice versa

WG/ESRC-fundedResearch- Policy-Practice Hub for Autism Spectrum Disorders

Prof Sue Leekam (PI)Wales Autism Research Centre

Dr Dawn Wimpory (Co-I)Bangor University, BCUHB

Autism Spectrum Disorders (ASD) Database:Regional Pilot for a National ASD Database for Wales

funded by WG & BCUHB Charitable Funds

Consequences of ASD-enhancement of CCH Database

On the original unenhanced CCH database an average of 1 diagnosis per month was recorded.

Following ASD-enhancement…..

From 2012, an average of 14 diagnoses per month have been recorded

Genetic conditions that can cause ASD

Certain genetic conditions co-occur with ASD more often than by chance and are considered to contribute to the causes of ASD.

Examples are:- • Phenylketoneuria (PKU)• Fragile X Syndrome (FXS) • Tuberous sclerosis (TSC)

PKU screening: should be 100%

• 22% of Autistic Disorder Cases +ve for PKU (1976)

• Dietary intervention improves function & behaviour

• PKU national screening program (new born heel prick test)

• PKU screening unrecorded for 17% of ASD on CCH in 2009 & 2012

Developmental Aspects of Social Timing in

Typical Development & Autism

• A cross disciplinary approach to Autism• Grounded in Developmental Psychology

& Clinical Practice • Informed by, & informing, Genetics Rsrch

Could different timing problems in Autism be linked?….

Wimpory, Nicholas & Nash (2002) suggested that social & other timing problems in Autism could be linked through a genetics-based

Social Timing Hypothesis whereby altered timing in autism may reflect anomalies in clock genes…

Clock gene Family-Based Association Test for Autism

• 150 hi-functioning Autistic Disorder trios• Tested 11 clock/clock-related genes• Found significant association (p < 0.05) for

individual SNPs in two clock genes PER1 and NPAS2, and; .

• significant association for haplotypes in two clock genes NPAS2 and PER1 (p = 0.001

Musical Interaction Therapy supports social timing in

establishing intersubjectivity and its developmental sequelae…

Musical Interaction Training Film available as DVD free from, Dr Dawn Wimpory on request at: [email protected]

(Wimpory et al,, 1995; Wimpory and Nash, ’99; DVD:Methley & Wimpory, 2011)

Social Timing Analysis & Evaluation of Musical Interaction Therapy

• Action research funded by The Baily Thomas Charitable Fund & BCUHB Charitable Funds

• Local ASD strategy-funded MIT provision • 16+ cases filmed within & outside MIT• Pioneering application of micro social timing

measures to ASD• Incorporation & measurement of other

evaluated good practice (PACT)

Interlinked Research, Clinical & Service Development ASD Projects

Recent:• Policy Practice Research Hub• ASD Research/Service Development DatabaseTiming-based theoretical understanding of ASD underpinned by longer established research:• Molecular genetics (clock genes)• Musical Interaction Therapy (action research)Clinical Practice informing research & vice versa

Best Practice is both research-informed & research-contributing

Eg, Multiply affected family:• same Mum’s 3/5 children with ASD & 2 Dads• Identified on ASD database• Benefit from/contributes to MIT/research• Database pushing up diagnostic standards• RPP Hub informs Clinicians, eg re Melatonin• ASD Strategy enhances provision & training • Genetics Research benefits through client

interest/cooperation – family benefits too.

Could Temporal Synchrony difficulties functionally contribute to the developmental cascade of Autism?

• Deficits of Autistic Disorder match areas of development that positively correlate with the timing parameters of preverbal interaction:

• Attachment, pretend play, empathy and Theory of Mind.

The Circadian Clock and its genetic elements

regulate timing on several levels

• Circadian rhythms, sleep, melatonin etc. • Developmental stages and ageing. • Short period oscillatory processes.

Could Temporal Synchrony difficulties functionally contribute to the developmental cascade of Autism?

• Deficits of Autistic Disorder match areas of development that positively correlate with the timing parameters of preverbal interaction:

• Attachment, pretend play, empathy and Theory of Mind.