Conference Programme

SSBP Conference, Oslo 2022

Draft Programme for SSBP 26th Educational Day and Research Symposium

5-7 September 2024, Bali, Indonesia


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


Last updated on 12th July 2024

08:15 – 08:55

Arrival and Registration

08:55 – 09:00

Welcome from the Conference Organisers


09:00 – 09:45


Gemma Davy

Early identification of autism from infancy to preschool using professional observations and parental report: Developmental surveillance using the SACS and ASDetect tools

09:45 – 10:30

Free Communications

3 x 15 min

Aishworiya Ramkumar

Validity and Feasibility of Using the MCHAT-R/F for Autism Screening Among Well Children Within the Existing Primary Care System in Singapore


Charlotte Willfors

Symptoms of Autism in Williams Syndrome: A Transdiagnostic Approach


Nola Chambers

Validation of the Self-Report, Quantified TSC-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)

10:30 – 11:00

Morning Refreshments


11:00 – 11:30


Agustini Utari

Down Syndrome in Indonesia: Diagnosis, Early Intervention and Management

11:30 – 12:15

Free Communications

3 x 15 min

Ni Wayan Suardani

Balinese Down Syndrome’s Stigma


Nani Maharani

Noonan Syndrome: Demographic, Phenotype Characteristics and Diagnosis Odyssey


Epifani Angelina Chandra

Unveiling Turner Syndrome: Clinical Presentation and Late Identification Challenges in Indonesia

12:15 – 13:30



13:30 – 14:45

Free Communications

5 x 15 min

Poonnada Jiraanont

Population-Based FMR1 Carrier Screening Among Reproductive Women


Tanjung Ayu Sumekar

Modifiable Risk Factors Associated with Autism Spectrum Disorders in Indonesia


David Hessl

Using an App-Based Ecological Momentary Assessment of Executive Function Related Behaviours in IDDs: Preliminary Feasibility, Reliability, Validity, and Factor Structure


Honey Heussler

The Global Angelman Syndrome Registry: An Overview


Van Ma

Neurodevelopmental Spectrum of a Cohort of Individuals with KBG Syndrome

14:45 – 15:15

Afternoon Refreshments


15:15 – 15:45


Ahmad Suryawan

General Movements (GMs) methods as a predictive tool of neurodevelopment disorders in early age

15:45 – 16:30

Free Communications

3 x 15 min

Lindsay Mizen

Sleep in SYNGAP1-Related Intellectual Disability


Nydia Rena Benita Sihombing

Cri-du-chat (5p) Syndrome Combined with 3q28q29 Duplication: A Case Report


Georgie Agar

Differences in Overnight Caregiving Patterns of Mothers and Fathers: Objective Assessment in Two Rare Genetic Syndrome

16:30 – 17:00

Panel Discussion 


17:00 – 19:00

Welcome Reception – Grand Hyatt Bali

08:30 – 08:55

Registration (for new arrivals) and Poster Set-up

08:55 – 09:00

Welcome from the Conference Organisers


09:00 – 09:45


Gauri Divan

Adapting and Innovating: a model of autism care for low resource settings

09:45 – 10:30

Free Communications

3 x 15 min

Gail Alvares

Targeting Intolerance of Uncertainty in Young Children Diagnosed with Autism: A Randomised Controlled Trial of a Parent-Mediated Group Intervention


Jessica Martin

Anxiety and Challenging Behaviour in Rare Neurodevelopmental Disorders (NDDs): A Focus on DDX3X-related NDD and CASK-related NDD


Irene Astrid Larasati

Correlation Between Uncertainty and Anxiety in Parents of Children with Down Syndrome in a Developing Country: A Cross-Sectional Study in Indonesia

10:30 – 11:00

Morning Refreshments


11:00 – 11:20

Leclezio-de Vries Prize

Talia Thompson

Recognizing Anxiety in Turner Syndrome Early: Community Engaged Development of a Patient-Centered Outcome Measure

11:20 – 11:50

Free Communications

2 x 15 min

Effie Pearson

A Caregiver-Reported Profile of Separation Distress and Attachment-Related Behaviours in Angelman Syndrome


Jessica Hall

Psychopathology, Cognition and Developmental Coordination Disorder Associated with 15q11.2 Deletion

11:50 – 12:15


12:15 – 13:30

Lunch and Poster Viewing


13:30 – 14:00


Meow-Keong Thong

The Role Of Genomic Counselling And Public Health Genomics In Low and Middle Income Countries in the Asia-Pacific Region

14:00 – 14:45

Free Communications

3 x 15 min

Tri Indah Winarni

APOe and KLOTHO Gene Variants Do Not Affect Diagnosis and Severity of Fragile X-Associated Tremor/Ataxia Syndrome Phenotypes


Flora Tassone

Clinical Phenotype and Altered Metabolomic and Proteomic Profiles in Individuals with 22q11.2 Deletion Syndrome


David Godler

Transcriptomic Signatures in Blood and Brain Related to Intellectual Functioning and Behavioural Features of Prader-Willi Syndrome.

14:45 – 15:00



15:00 – 15:30

Afternoon Refreshments


15:30 – 16:00


Stewart Einfeld

Interventions for Families with People with Developmental Disabilities in Low and Middle Income Countries and Remote Areas

Leave at 16:30

Conference Trip to Uluwatu Temple and Conference Dinner

We will travel together by bus from Grand Hyatt Bali to Uluwatu Temple. There, we will watch a traditional Kecak Dance, and have dinner on the beach.

08:30 – 09:00



09:00 – 09:30


Randi Hagerman

Metformin: A Promising New Treatment for Fragile X Syndrome

09:30 – 10:15

Free Communications

3 x 15 min

Andrew McKechanie

What Can We Learn About Health and Healthcare From Large-Scale, Routinely-Acquired Data in the United Kingdom: Studies in Fragile X Syndrome.


Hazel Biag & Ellery Santos 

Exploring Electroretinogram (ERG) Alterations as a Novel Biomarker for Fragile X Syndrome: Comparative Analysis of ERG and FMRP Levels among Full Mutation, Premutation, and Healthy Controls


Dejan Budimirovic

FORWARD 2011-2020 Cohort: Frequencies of Non-drug Services in Individuals With Fragile X Syndrome With and Without Co-occurring Autism Spectrum Disorder

10:15 – 10:35

Morning Refreshments


10:35 – 11:05


Weerasak Chonchaiya 

Global Insights on Screen Media Exposure and ‘Virtual Autism’: Exploring the Link

11:05 – 11:20

Free Communications

1 x 15 min

Elizabeth Elliott

Neurodevelopmental and Facial Phenotype and MRI Findings in a Cohort of Early School-Aged Children with Low-Moderate Prenatal Alcohol Exposure

11:40 – 11:40


11:40 – 12:15

Poster Session

Poster Viewing and Discussion

12:15 – 13:15



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