knowledge exchange in autism spectrum disorders (asd)
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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: d.wimpory@bangor.ac.uk
(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.
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