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Conference Programme 2025

SSBP Conference, Amsterdam 2025

Draft Programme for SSBP 27th Educational Day and Research Symposium

4-6 September 2025, Amsterdam, the Netherlands

**** DRAFT PROGRAMME ****

This is a draft conference programme, and may be altered without notice. 

Last updated on 28th June 2025

08:30 – 09:15

Arrival and Registration

09:15 – 09:30

Welcome from the Conference Organisers

SESSION 1 

09:30 – 10:00

Keynote

Jan Paul Wagenaar

TSC – Our journey with a rare disease

10:00 – 10:45

Keynote

Prof. Therese van Amelsvoort

Transition from youth to adult care, most recent insights and future challenges

10:45 – 11:15

Morning Refreshments

SESSION 2 

11:15 – 12:00

Keynote

Dr. Janneke Zinkstok

Family-oriented care for rare genetic syndromes

12:00 – 12:45

Free Communications

3 x 15 min

Jeanne Wolstencroft

Mental health support priorities for families caring for children with rare genetic conditions

 

Josephine Haddon

Family Emotional climate is associated with neuropsychiatric outcomes in young people with neurodevelopmental risk genetic conditions

 

Danielle Baribeau

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation

12:45 – 13:45

Lunch

SESSION 3

13:45 – 14:30

Keynote

Professor Mieke van Haelst

Care for Genetic Obesity – experiences from the Dutch Expert Center for Genetic Obesity 

14:30 – 15:15

Free Communications

3 x 15 min

Jessica Hall

Longitudinal development of prodromal psychosis in young people at high genomic risk of schizophrenia

 

Flora Tassone

Molecular, Neurocognitive and Psychosis Risk Profiles in Youth and Young Adults with 22q11.2 Deletion Syndrome: Longitudinal Findings from a Multimodal Study

 

Ida Elken Sønderby

TRICXY-MINDS: Clinical insight into sex TRIsomies for enhanced psychiatric Care in individuals with X and Y chromosomal aneuploidies in Norway

15:15 – 15:45

Afternoon Refreshments

SESSION 4

15:45 – 16:15

Keynote

Dr. Mirthe Klein Haneveld

Clinical practice guidelines for rare genetic conditions associated with intellectual disability

16:15 – 16:45

Free Communications

2 x 15 min

Nicole Tartaglia

Exploring the Role of Parental Cognitive Skills on 36-month Outcomes in Children with Prenatally Diagnosed XXY, XYY, and Trisomy X

 

Kayla Smith

Advancing detection of social anxiety in fragile X syndrome: A multi-method exploration of social behaviour, heart activity, and heart rate-defined sustained attention

16:45

Close of Educational Day

18:30 – 20:30

Welcome Reception – Groot Melkhuis, Vondelpark

08:15 – 08:45

Registration (for new arrivals) and Poster Set-up

08:45 – 09:00

Welcome from the Conference Organisers

SESSION 5

09:00 – 09:45

Keynote

Professor Emily Farran

What are the gaps in research for the communities of people with Down Syndrome, Fragile X Syndrome and Williams Syndrome?

09:45 – 10:30

Free Communications

3 x 15 min

Lucas Gabriel Gutiérrez Lafrentz

TANDem-2: Closing the Gap to Interventions for TAND – study protocol

Ann Swillen

The added value of using infographics on the educational and psychosocial needs of children and adolescents with 22q11 DS in school: the Leuven experience

Sarah Eley

Gene therapy in Fragile X Syndrome: A caregiver perspective

10:30 – 11:00

Morning Refreshments

SESSION 6

11:00 – 11:45

Keynote

Dr. Peter van de Ven

Statistical challenges of trials in rare genetic disorders

11:20 – 11:50

Speed Presentations

6 x 5 min

Kaat Theelen

Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study

Nadia van Silfhout

PROM4RARE: the final core patient reported outcome set for individuals with genetic intellectual disability

Floortje Hosman

COS4TAND: Towards a Core Outcome (Measure) Set for TSC-Associated Neuropsychiatric Disorders (TAND)

Aaron Kaat

Concept Formation as a Cognitive Outcome Measure in Rare Diseases

Lindsey Mizen

Using machine learning to explore behavioural phenotypes across single gene neurodevelopmental conditions

Maarten Otter

Social functioning as a predictor of development in adult women with triple X syndrome

12:15 – 12:30

Combined Q/A

12:30 – 13:45

Lunch and Poster Viewing

SESSION 7

13:45 – 14:30

Keynote

Dr. Lotte Haverman

Bridging the Gap: Developing a Generic PRO Set for Individuals with (Genetic) Intellectual Disabilities

14:30 – 15:00

Free Communications

2 x 15 min

Sara Jane Webb

Factors that impact short and medium term stability on clinical trial measures in children with autism

 

Jane Waite

Psychometric Properties of the Clinical Anxiety Screen for People with Severe to Profound Intellectual Disabilities and its Application to Cross-Syndrome Research

15:00 – 15:30

Afternoon Refreshments

SESSION 8

15:30 – 15:45

Free Communication

15 min

Sydni Weissgold

An investigation of autonomic function in SYNGAP1-related Intellectual Disability

15:45 – 16:00

Leclezio-de Vries Prize 

Tosca-Marie Heunis

Feasibility and Acceptability of the TAND Toolkit App

16:00 – 16:30

Panel Discussion

19:00 – 21:00

Conference Dinner

Vergulden Eenhoorn, Amsterdam

08:30 – 09:00

Arrival

SESSION 9

09:00 – 09:45

Keynote

Vivi Heine

Human iPSC-Based Disease Models for Personalized Therapeutics in Neurodevelopmental Disorders

09:45 – 10:30

Free Communications

3 x 15 min

Shanlee Davis

Impact of Infant Testosterone Treatment on Neurodevelopment in Boys with 47,XXY

 

Randi Hagerman 

Controlled Trial of Metformin in Fragile X Syndrome

 

André Strydom

Evaluation of the effect of intranasal insulin on development and behaviour in PhelanMcDermid syndrome

10:30 – 11:00

Morning Refreshments

SESSION 10

11:00 – 11:45

Free Communications

3 x 15 min

Hilgo Bruining

Bridging Genetic Bridges: Unravelling E/I Imbalance to Unlock Personalized Treatments in Monogenetic Disorders

 

David Owen

Proteomic profiles related to neurodevelopmental copy number variant carriers in UK Biobank open new insights into internalising and cardiometabolic multimorbidity

 

Riccardo Brambilla

p70 S6 kinase as a potential peripheral biomarker for 16p11.2 copy number variant- associated neurodevelopmental syndromes

11:45 – 12:10

Speed Presentations

5 x 5 min

Yiting Zhu

Effects of metformin versus placebo on children with fragile X syndrome: a randomized, double-blind, placebo-controlled clinical trial

 

Mana Nasori

Parents’ and healthcare professionals’ experiences in interprofessional collaboration in rare genetic intellectual disability syndrome: A qualitative study into barriers and facilitators

 

Darren Hocking

Elucidating interactions between attentional control and socially oriented attention in young children with neurofibromatosis type 1

 

Damien Wright

Resting state EEG power and connectivity in SYNGAP1-related disorder

 

Danyong Feng

Age-Varying Distinct Neuroanatomy in Young Children with Autism Spectrum Disorder and Fragile X Syndrome

12:10 – 12:20

Combined Q/A

12:15 – 13:15

Lunch and poster viewing

13:45 – 14:35

SSBP AGM and Award Ceremony

14:35 – 14:45

A Presentation about SSBP 2026

SESSION 11

14:45 – 15:15

Free Communications

2 x 15 min

Claudia Vingerhoets

Anxiolytic effects of riluzole in 22q11.2 deletion syndrome

 

Danielle Baribeau

An N-of-1 trial of Fluoxetine in KCNC1 related disorder

15:15 – 15:45

The Pat Howlin Prize

 

Alice Federica Maria Montanaro 

Cognitive behavioral therapy in adolescents with Fragile X Syndrome: a feasibility randomized controlled trial

15:30 – 16:00

Afternoon Refreshments

SESSION 12

16:00 – 16:30

Keynote

3 x 15 min

Prof. Marianne van den Bree 

Improving care for people with rare genetic variants associated with neurodevelopmental conditions: contributions large longitudinal research cohorts can make

16:30 – 16:45

Closing Remarks

17:00

End of Research Symposium