Conference Programme

SSBP Conference, Oslo 2022

Programme for SSBP 24th Educational Day and Research Symposium

8-10 September 2022, Oslo, Norway

**** A NOTE FOR DIGITAL PARTICIPANTS ****

The SSBP conference presentations will be broadcast live, for digital registrants to view and to be able to participate in discussion.

Following the end of the session, the recordings will be processed and will be made available on the website for catch-up viewing as soon as possible.

All timings are given in local Oslo time. (Daylight Saving Time will be in effect)

08:45 – 09:30

Registration and Coffee

09:30 – 09:45

Welcome from the Conference Organisers

09:45 – 10:45

Keynote

Conni Kasari

Improving Social Communication Outcomes For Young Children With Autism And Other Neurodevelopmental Disorders

10:45 – 11:00

Morning Refreshments

11:00 – 11:45

Keynote

Kaja Selmer

The Impact of Epilepsy on Behavioural Phenotypes – and Vice Versa?

11:45 – 12:30

Free Communications

2 x 20 min

Jente Verbesselt

Comparison of behavioural and socio-communicative capacities in school-aged children with 16p11.2 deletion and their siblings

Sissel Berge Helverschou

Bridging the gap between research and clinical practice; Findings from a Nationwide, Multicentre Mental Health Service for adults with Autism and Intellectual disability

12:30 – 13:30

Lunch

13:30 – 14:30

Keynote

Ann Swillen

The Neurodevelopmental Profile and Stages of Regression in Patients With Phelan Mc-Dermid Syndrome

14:30 – 15:00

Afternoon Refreshments and Exhibitors

15:00 – 16:00

Free Communications

2 x 30 min

Lauren Shelley

An examination of the caregiver-reported profile and function of behaviour directed towards others (aggressive behaviour) in children and adults with SATB2-associated syndrome

Honey Heussler

An Open-Label, Tolerability and Efficacy Study of ZYN002 (Cannabidiol) Administered as a Transdermal Gel to Children and Adolescents with 22q11.2 Deletion Syndrome (INSPIRE)

19:00 – 20:30

Welcome Reception – Oslo Rådhus

08:15 – 08:45

Registration (for new arrivals) and Poster Set-up

08:45 – 09:00

Welcome from the Conference Organisers

SESSION 1 – Big Data in the Nordic Countries

09:00 – 09:45

Keynote

Thomas Werge

From Cross-Sectional To Longitudinal Medicine

09:45 – 10:15

Keynote

Ida Elken Sønderby

Using recurrent rare copy number variants carriers to gain insight into human neurodevelopment and disease

10:15 – 10:30

Morning Refreshments

10:30 – 11:00

Keynote

Ellen Melbye Langballe

The Norwegian Down Syndrome and Dementia Study

11:00 – 11:45

Free Communications

2 x 20 min

Jeanne Wolstencroft

IMAGINE-ID Longitudinal Study: Mental health and behaviour in a National Cohort of UK Children with Intellectual Disability of genetic aetiology

Sabine Mous

Autism symptom profiles in children and young adults with Fragile X Syndrome, Neurofibromatosis Type 1, Tubereus Sclerosis Complex and Angelman Syndrome

11:45 – 12:30

Free Communications

2 x 20 min

Randi Hagerman

Features of the Fragile X-associated Tremor/Ataxia (FXTAS) in Premutation Carriers

Flora Tassone

Somatic CGG instability in female FMR1 premutation carriers: Potential Clinical implications

12:30 – 13:45

Lunch and Posters

SESSION 2

13:45 – 14:30

Free Communications

3 x 15 min

Ramkumar Aishworiya

Clinical Phenotype and Molecular Biomarkers in Fragile X Syndrome

Elise Pelgrims

Terminal Triplications of 1p36.3 are Causing a Remarkable Overlapping Facial and Behavioural Phenotype

Cristan Farmer

An Anchor-Based Approach to Determining Minimal Clinically Meaningful Change in Cognitive and Adaptive Behavior Ability Scores: Indexing Against Key Developmental Milestones

14:30 – 15:00

Keynote

Charlotte von der Lippe

The Why, What, When and How of Genetic Testing

15:00 – 15:45

Free Communications

3 x 15 min

Donna McDonald-McGinn

Findings in individuals with chromosome 22q11.2 copy number variants diagnosed in adulthood

Nicole Tartaglia

The eXtraordinarY Babies Study: Developmental Profiles of Infants with Prenatally Identified Sex Chromosome Trisomies

Shuting Zheng

Bias in measurement of autism symptoms by language level and nonverbal mental age in minimally verbal children with neurodevelopmental disorders

15:45 – 16:15

Afternoon Refreshments and Posters

SESSION 3

16:15 – 17:15

Keynote

Kevin Mitchell

What Have We Learned From Psychiatric Genetics?

19:30

Conference Gala Dinner – Oslo Kongressenter

SESSION 4

09:00 – 09:45

Keynote

David Skuse

Gene Functional Impairment and Its Correlation with the Phenotypic Profile of ASD in a National Cohort of UK Children with Intellectual Disability

09:45 – 10:15

Keynote

Johan Lundin Kleberg

Reinforcement Learning and Social Attention in Rare Genetic Disorders: Results from the Swedish UNIKA Study

10:15 – 10:45

Morning Refreshments

SESSION 5

10:45 – 11:30

Keynote

Stefan Winblad

Neurocognition And Behaviour In Muscular Dystrophies

11:30 – 12:15

Keynote

Pat Howlin

Changes in mental health, quality of life and social inclusion in older autistic adults

12:15 – 13:15

Lunch

SESSION 6

13:15 – 14:00

Free Communications

2 x 20 min

Stacey Bissell

The TAND Toolkit App – Participatory Development of a Mobile App to Reduce the TSC-Associated Neuropsychiatric Disorders (TAND) Identification and Treatment Gap

Kate Woodcock

Collaborating with the Global PWS Community to Better Understand Support and Advocacy Needs

14:00 – 14:15

A Presentation about SSBP 2023

14:15 – 14:30

Afternoon Refreshments

14:30 – 15:20

SSBP AGM and Award Ceremony

15:20 – 15:50

Panel Discussion

Petrus de Vries (Chair), Kate Woodcock, David Skuse, Kevin Mitchell

Usefulness of an Autism / ASD Diagnosis in Rare Genetic Disorders with ID

15:50 – 16:00

Closure of Research Symposium