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Rubinstein-Taybi Syndrome: a 10-Year Follow-Up

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Rubinstein-Taybi Syndrome: a 10-Year Follow-Up 22nd SSBP International Research Symposium Back to Basics in Behavioural Phenotypes: Insights from Developing a Detailed Understanding of Behaviour Programme Book 4th – 6th September 2019 • Birmingham, UK Save the date! 23rd SSBP International Research Symposium will be held in Oslo, Norway in September 2020 Abstract submission opens: 1st April 2020 Registration opens: 1st May 2020 Deadline for online abstract submission: 22nd May 2020 Deadline for discounted early bird registration: 31st July 2020 Educational Day: 10th September 2020 Research Symposium: 11th – 12th September 2020 Join us in Oslo, Norway for our 23rd Research symposium, the theme will be Developmental disorders and behavioural phenotypes across the lifespan See www.ssbp.org.uk for further information nd 22 Internationaland SSBP details Research on Symposium how to submit an abstract for an oral or poster presentation The Society for the Study of Behavioural Phenotypes 4th– 6th September 2019 The 22nd SSBP International Research Symposium Back to Basics in Behavioural Phenotypes: Insights from Developing a Detailed Understanding of Behaviour Birmingham, UK 4th – 6th September 2019, Birmingham, UK 22nd International SSBP Research Symposium Contents Contents Welcome from the Conference Organisers .......................................................................................................................10 Birmingham Conference Organisers ......................................................................................................................................11 Sponsors .......................................................................................................................................................................................................12 Scientific Committee ..........................................................................................................................................................................13 The SSBP .......................................................................................................................................................................................................14 Tom Oppé and the Tom Oppé Distinguished Lecture .............................................................................................16 Patricia Howlin and the Patricia Howlin Prize Lecture ............................................................................................18 Petrus de Vries and the Leclezio-de Vries Lecture .....................................................................................................20 Venues ..........................................................................................................................................................................................................22 Keynote Speaker Profiles: ..............................................................................................................................................................24 Deborah Fidler ................................................................................................................................................................................................................. 24 Louise Gallagher ............................................................................................................................................................................................................. 24 Richard Hastings ..............................................................................................................................................................................................................25 Andreas Meyer-Lindenberg ......................................................................................................................................................................................25 Chris Oliver .........................................................................................................................................................................................................................26 Jacqui Rodgers .................................................................................................................................................................................................................26 Gaia Scerif ............................................................................................................................................................................................................................27 Cristiane Silvestre di Paula .........................................................................................................................................................................................27 Andrew Stanfield .............................................................................................................................................................................................................27 Michael Thomas ..............................................................................................................................................................................................................28 Annalu Waller ....................................................................................................................................................................................................................28 Educational Day Programme ......................................................................................................................................................29 Research Symposium Programme .........................................................................................................................................30 4th – 6th September 2019, Birmingham, UK Contents Abstracts for Educational Day ...................................................................................................................................................33 1 KEYNOTE: Precision Medicine in the Context of Genetic Neurodevelopmental Disorders ................................33 2: Linking Genotype to Phenotype by Biological Pathways ..........................................................................................................34 3: Subcortical Biochemistry in Newborns with and without a Family History of Neurodevelopmental Conditions and Their Developmental Outcomes at 14 – 16 Months ....................................................................................35 4: Community-Based Participatory Research in the Context of Behavioural Phenotypes .........................................36 5: Non-Invasive Prenatal Screening (NIPT): Opinions from a Survey to Parents of Children with X and Y Chromosomal Variations (XYV) ....................................................................................................................................................................37 6 KEYNOTE: Behavioural Phenotypes and the Transdiagnostic Nature of Neurodevelopmental Disorders ...................................................................................................................................................................................................................38 7 KEYNOTE: Building Neurodevelopmental CNV Carrier Cohorts for the Advancement of Knowledge on Genetic and Neurodevelopmental Disorders ................................................................................................39 8 KEYNOTE: A Family Systems Perspective on Rare Genetic Syndromes ...........................................................................40 9 KEYNOTE: Collaborating with Stakeholders in the Design of Digital Assistive Technology Interventions ...........................................................................................................................................................................................................41 Abstracts for Research Symposium Day 1 ........................................................................................................................42 10 KEYNOTE: The Importance of Knowing When to be Precise: There’s Both a Lumper and a Splitter in all of us. ............................................................................................................................................................................................... 42 11: Incomplete Silencing of Full Mutation Alleles in Males with Fragile X Syndrome is Associated with Autistic Features ...................................................................................................................................................................................................43 12: Back to Basics in Lesch Nyhan Syndrome; the Paradigm for a Behavioural Phenotype .........................................44 13: Genotype and Cognitive and Behavioural Phenotypes in Children and Adolescents with Neurofibromatosis Type 1 ...............................................................................................................................................................................45 14 KEYNOTE: Computational Modelling of Interventions for Developmental Disorders ...........................................46 15 The Developmental Trajectory of Sleep in Children with Smith-Magenis Syndrome Compared to Typically Developing Peers ............................................................................................................................................................................47
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