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Conference Programme

Inviting all Professionals, Students and Affiliates

Programme for SSBP 22nd Educational Day and Research Symposium

4-6 September 2019, Birmingham, UK

**** THIS IS A DRAFT PROGRAMME – CHANGES MAY BE MADE WITHOUT NOTICE. **** 

Please refer back to www.ssbp.org.uk for the latest programme information.

Last updated on 24/08/2019

  • Educational Day, 4th September 2019
    Venue - Aston University - Sumpner Theatre, Main Building (Room MB651)

8:45 – 9:45

Registration and Coffee & Pastries

9:45 – 10:00

Welcome from the Conference Organisers

10:00 – 11:00

Educational lecture 1: Dr. Andrew Stanfield, University of Edinburgh

Precision medicine in the context of genetic neurodevelopmental disorders  

11:00 – 11:25

Morning refreshments

11:25 – 12:40

Exciting Methods Lightning Round  (15 min presentations – 10 min overview of method, 5 min summary of research)

 

– Friederike Ehrhart  – Creating Rare Disease Pathways Using Existing Data

– Cornelia Carey – Proton Magnetic Resonance Spectroscopy for Identifying Pathways to Developmental Outcomes

– Petrus de Vries – Community Based Participatory Research in the Context of Behavioural Phenotypes

– Grace Porter – Non-Invasive Pre-natal Screening, What Parents Think.

15 Mins Questions Following Session

12:40 – 13:40

Educational lecture 2: Prof. Andreas Meyer-Lindenberg, Central Institute of Mental Health, Mannheim, Germany

Behavioural Phenotypes and the Transdiagnostic Nature of Neurodevelopmental Disorders 

13:40 – 14:30

Lunch

14:30 – 15:30

Educational lecture 3: Prof. Louise Gallagher, Trinity College Dublin

Building Neurodevelopmental CNV Carrier Cohorts for the Advancement of Knowledge on Genetic and Neurodevelopmental Disorders

15:30 – 16:30

Educational lecture 4: Prof. Richard Hastings, University of Warwick

A Family Systems Perspective on Rare Genetic Syndromes

16:30 – 16:55

Afternoon refreshments

16:55 – 17:55

Educational lecture 5: Prof. Annalu Waller, University of Dundee

Collaborating with Stakeholders in the Design of Digital Assistive Technology Interventions

18:00 – 18:30

Guided Walk to Conference Reception

18:30 – 20:00

Conference Welcome Reception – The Library of Birmingham.

  • Research Symposium Day One - 5th September 2019
    Venue: Conference Aston

8:00 – 8:50

Registration and Coffee & Pastries

Poster set-up

8:50 – 9:00

Welcome

09:00 – 09:45

Keynote 1: Prof. Chris Oliver, University of Birmingham
The Importance of Knowing When to be Precise: There’s Both a Lumper and a Splitter in all of us

09:45 – 10:45

Free Communications – Careful Phenotyping (15 min + 5 min Q/A per talk)

Emma Baker – Incomplete Silencing of Full Mutation Alleles in Males with Fragile X Syndrome is Associated with Autistic Features

James Harris – Back to Basics in Lesch Nyhan Syndrome; the Paradigm for a Behavioural Phenotype

– Sabine Mous – Genotype and Cognitive and Behavioural Phenotypes in Children and Adolescents with Neurofibromatosis Type 1

 

10:45 – 11:15

Morning Refreshments and Poster Viewing

11:15 – 12:00

Keynote 2: Prof. Michael Thomas, Birkbeck, University of London

Computational Modelling of Interventions for Developmental Disorders

12:00 – 12:40

Free Communications – Sleep and Behaviour (15 min + 5 min Q/A per talk)

Georgie Agar – The Developmental Trajectory of Sleep in Children with Smith-Magenis Syndrome Compared to Typically Developing Peers

Honey Heussler – The Impact of Seizure and Gastroesophageal Reflux History on Sleep and Behaviour in Angelman Syndrome

12:40 – 13:45

Lunch and Poster Session

13:45- 14:30

Keynote 3: Prof. Gaia Scerif, University of Oxford
Understanding Variable Outcomes in Disorders of Identified Genetic Aetiology: The Importance of Early and Deep Developmental Phenotyping

14:30 – 15:30

Free Communications – The Development of Behavioural and Cognitive Phenotypes (15 min + 5 min Q/A)

Effie Pearson – The Development of Gesture and Prelinguistic Communication in Angelman Syndrome

Hayley Crawford – Changes in Behaviour Across the Lifespan in Fragile X Syndrome

Georgina Edwards – Repetitive Behaviour in Rubenstein-Taybi Syndrome: A 12-year Follow-Up

15:30 – 16:00

Afternoon Refreshments and Poster Viewing

16:00 – 16:35

Free Communications – ASD & Genetic Syndromes (10 min presentations)

– Alice Welham – Concordance of the SCQ and ADOS in identifying autism symptomatology in genetic syndrome groups

Jennifer Mary Glennon – Visual Perception as a Window into the Nature of Autistic-like Trait Expressions in Down Syndrome and Fragile X Syndrome

Kate Baker – How Does Genetic Diagnosis Influence Autism in Children with Intellectual Disability 

Questions on session (5 mins)

 

16:40 – 17:15

Free Communications – Social Cognition (10 min presentations)

Maarten Otter – Social Cognition Deficits in Adults with Triple X Syndrome

Jeanne Wolstencroft – Genetics and Social Cognition: Developmental Changes in Emotion Recognition in Turner Syndrome

Katharine Ellis – Social Cognition, Social Interaction and Social Behaviour in Cornelia de Lange, Fragile X and Rubenstein-Taybi Syndromes

Questions on session (5 mins)

17:15 – 18:00

Tom Oppé Distinguished Lecture – Professor Louise Gallagher

Genes, Family, Time and Place: Challenges in Studying Behavioural Phenotypes

Arrival from 19:00

19:30 – 23:00

Gala Dinner at Birmingham Botanical Gardens

  • Research Symposium Day Two - 6th September 2019
    Venue - Conference Aston

8:30 – 9:00

Registration for new arrivals, and Coffee & Pastries

9:00 – 9:45

Keynote 4 – The Genetics Society Lecture: Cristiane Silvestre de Paula
ASD Across Latin America: Diagnosis, Challenges, and Barriers to Care

9:45 – 10:45

Free Communications – Health and Disease (15min + 5 min Q/A per talk)

– Rosalyn Hithersay – Longitudinal Changes in Cognition in the LonDownS Cohort

Christopher Eaton – Prevalence and Aetiology of Epileptic Seizures in Young People with 22q11.2 Deletion Syndrome and Relationships with Other Neurodevelopmental Disorders

Donna McDonald-McGinn – Correlation of Congenital Heart Disease Severity with Developmental Outcome in Patients with 22q11.2 Deletion Syndrome

10:45 – 11:15

Morning Refreshments and Poster Viewing

11:15 – 12:00

Keynote 5: Dr. Andrew Stanfield, University of Edinburgh
SYNGAP1 Related Intellectual Disability: Understanding the Phenotype to Move Towards Trials

12:00 – 13:00

Free Communications – Treatment Approaches for Behavioural Phenotypes (15 min + 5 min Q/A per talk)

– Carole Samango-Sprouse – The Relationship Between 47,XXY (Kleinfelter Syndrome), Autism Spectrum Traits (AST) and Early Hormonal Therapy (EHT)

The Pat Howlin Prize Lecture – Jeanne Wolstencroft – SOAR Study: New Approaches to Managing Social Skills Deficits in Turner Syndrome

The Leclezio-de Vries Lecture – Siobhan Blackwell – Collaborating with Stakeholders on the Development of a “Flexible Scheduling” Early Intervention Approach Designed to Prevent Disabling Resistance to Change.

13:00 – 14:00

Lunch and Poster Session

14:00 – 14:45

Keynote 6: Prof. Deborah Fidler, Colorado State University
Executive Function and Goal Directed Behaviour in People with Down Syndrome

14:45 – 14:55

Presentation from the SSBP Oslo 2020 Conference Team

14:55 – 16:05

SSBP AGM and Award Ceremony (including afternoon refreshments)

16:05 – 16:30

Free Communications – Mental Health (10 min presentations)

– Laura Groves – The Application of Attentional Control Theory for Anxiety in Cornelia de Lange Syndrome

– Kylie Gray – Mental Health Outcomes in Adults with Autism

Questions on Session (5 min)

16:30 – 17:15

Keynote 7: Dr. Jacqui Rodgers, Newcastle University
Restricted & Repetitive Behaviours: Impact, Associations and Uncertainties

17:15 – 17:30

Closing remarks

Staying on After SSBP?

The Fragile X Society Conference is in Birmingham on 7th September 2019

 

Speakers include:

  • Dr Sundus Alusi (Fragile X Tremor/Ataxia Syndrome)
  • Dr Mark Hirst (Gene Editing and Fragile X)
  • Dr Andrew Stanfield (Adulthood and Fragile X Syndrome)