Program
08.00-08.15
Registration of participants
08.15-08.30
Welcome, opening of the conference
Session I - State of art
08.30-09.00
Keynote lecture - The Need of Play Therapy in Children with DDX3X
Dr Roksana Malak, Department of Rheumatology, Rehabilitation and Internal Diseases, Poznań University of Medical Sciences
Dr Roksana Malak, Department of Rheumatology, Rehabilitation and Internal Diseases, Poznań University of Medical Sciences
09.00-09.30
Communication Ability in Children with DDX3X-Related Condition
Prof. Angela Morgan, Speech Pathologist, Melbourne University, Director of the Speech Genomics Clinic, Royal Children´s Hospital, Australia
Prof. Angela Morgan, Speech Pathologist, Melbourne University, Director of the Speech Genomics Clinic, Royal Children´s Hospital, Australia
09.30-10.00
A Wide Range of Psychiatric Manifestations in Children with DDX3X Syndrome
Prof. Ayşegül Efe, Turkish Ministry of Health, Etlik City Hospital, Head of Department of Child and Adolescent Psychiatry, Ankara, Turkey
Prof. Ayşegül Efe, Turkish Ministry of Health, Etlik City Hospital, Head of Department of Child and Adolescent Psychiatry, Ankara, Turkey
10.00-10.30
Introduction to the Clinical and Molecular Aspects of DDX3X-Related Disorders
Prof. David Geneviève, Montpellier Université Hospital, Department of Genetics, Rare Diseases and Personalized Medicine, France
Prof. David Geneviève, Montpellier Université Hospital, Department of Genetics, Rare Diseases and Personalized Medicine, France
10.30-11.00
Zebrafish for Drug Repositioning in DDX3X Syndrome Treatment
Dr Fransisco Juan Martínez Navarro, Hospital Universitario Virgen de la Arrixaca, Murcian Institute of Biosanitary Research, Spain
Dr Fransisco Juan Martínez Navarro, Hospital Universitario Virgen de la Arrixaca, Murcian Institute of Biosanitary Research, Spain
11.00-11.30
☕ Coffee break
Session II - Practical aspects
11.30-12.00
Interdisciplinary Nursing Care of a Child with a Rare Disease DDX3X
Barbara Stefaniak MSc, 1st Vice-Chairwoman of the District Nursing and Midwifery Council, Specialist on Epidemiology, SZOZ Nad Matką i Dzieckiem in Poznań, Poland
Barbara Stefaniak MSc, 1st Vice-Chairwoman of the District Nursing and Midwifery Council, Specialist on Epidemiology, SZOZ Nad Matką i Dzieckiem in Poznań, Poland
12.00-12.30
DDX3X-Related Neurodevelopmental Disorder in Males
Dr Milou Kennis, Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, Netherlands
Dr Milou Kennis, Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, Netherlands
12.30-13.00
Social, Emotional and Behavioural Characteristics in DDX3X-Related Disorder
Dr Jessica Martin, PhD student in the Genomic Disorders and Cognitive Development Group, University of Cambridge, United Kingdom
Dr Jessica Martin, PhD student in the Genomic Disorders and Cognitive Development Group, University of Cambridge, United Kingdom
13.00-13.30
First Diagnostic Questionnaire for Assessing Patients’ Social Functioning: Comprehensive DDX3X Syndrome Patient Profile
Urszula Stefaniak-Preis MSc, PhD student in the Department of Clinical Psychology, Medical University of Poznan, Poland
Urszula Stefaniak-Preis MSc, PhD student in the Department of Clinical Psychology, Medical University of Poznan, Poland
13.30-14.30
🍽 Break - Lunch
Session III - Research
14.30-15.00
Developmental functions of the DDX3X gene
Prof. Silvia De Rubeis, Icahn School of Medicine at Mount Sinai, USA
Prof. Silvia De Rubeis, Icahn School of Medicine at Mount Sinai, USA
15.00-15.30
Gene Therapy Development for DDX3X Syndrome
Andrea Boitnott, PhD student in the Department of Paediatrics, University of Texas Southwestern Medical Center, Dallas, USA
Andrea Boitnott, PhD student in the Department of Paediatrics, University of Texas Southwestern Medical Center, Dallas, USA
15.30-16.00
What DDX3X Does in Our Cells
Prof. Stephen Floor, former Head of Floor Lab, University California, San Francisco, now Research Coordinator at INCEPTIVE, USA
Prof. Stephen Floor, former Head of Floor Lab, University California, San Francisco, now Research Coordinator at INCEPTIVE, USA
16.00-16.15
Summary of the conference and raffle for parents of children with DDX3X
16.15
Closing of the conference
DDX3X Family Day
First DDX3X Family Day in Poland for DDX3X parents and children attending the Conference in Poznań.
09.00-13.00
Tour of Poznań: Old Market Square, Fara Church, Kolegiacki Square
09.00/10.00/11.00
Private visit in Salt Cave for 50 minutes relaxation, light therapy and play in salt for children.
12.00
Group photo and watching famous Poznań Goats at Old Town Hall
13.30-14.30
🍽 Break - lunch
15.00
Meet the expert
Meeting for parents of children with DDX3X from Poland and abroad with specialists
(Collegium Stomatologicum, Department of Clinical Psychology, Medical University in Poznan, Bukowska 70, 1st floor, room E 101).
(Collegium Stomatologicum, Department of Clinical Psychology, Medical University in Poznan, Bukowska 70, 1st floor, room E 101).
Children will have leisure activities with volunteers at the same time in the same building at Mental Health Clinic (ground floor).
Free consultations:
Prof. Roksana Malak - free consultation for children with DDX3X: assessment of posture, assessment of ranges of movement, assessment of balance and reflexes according to the INPP method
Bartosz Bagrowski MSc and Assoc Prof. Katarzyna Warchoł-Biedermann
Barbara Stefaniak MSc - free nurse consultation for parents and children
Prof. Roksana Malak - free consultation for children with DDX3X: assessment of posture, assessment of ranges of movement, assessment of balance and reflexes according to the INPP method
Bartosz Bagrowski MSc and Assoc Prof. Katarzyna Warchoł-Biedermann
Barbara Stefaniak MSc - free nurse consultation for parents and children
Possibility to ask questions to specialists:
- Andrea Boitnott
- Dr Magdalena Badura-Stronka - geneticist and neurologist
- Prof. Ayşegül Efe
- Urszula Stefaniak-Preis MSc
- Andrea Boitnott
- Dr Magdalena Badura-Stronka - geneticist and neurologist
- Prof. Ayşegül Efe
- Urszula Stefaniak-Preis MSc
Online meeting with representatives of non-governmental organizations:
- Dr Hélène Frenkiel-Lebossé, Camille Stoven, Association Xtraordinaire, France
- Justine Desouches, DDX3X mum, vice president of Association DDX3X España, Spain
- Chelsey McCarthy, Executive Director DDX3X Foundation, USA
- Dr Hélène Frenkiel-Lebossé, Camille Stoven, Association Xtraordinaire, France
- Justine Desouches, DDX3X mum, vice president of Association DDX3X España, Spain
- Chelsey McCarthy, Executive Director DDX3X Foundation, USA
Rodzice dzieci z zespołem DDX3X:
- Cornelia Klugman, DDX3X mum from Denmark
- Marzena Donato, DDX3X mum from Poland
- Kate Tambone, mother of a child with DDX3X syndrome from USA and activist for DDX3X, author of a book about favourite recipes of DDX3X children
- Families form Poland, Italy, Greece and Irland.
- Cornelia Klugman, DDX3X mum from Denmark
- Marzena Donato, DDX3X mum from Poland
- Kate Tambone, mother of a child with DDX3X syndrome from USA and activist for DDX3X, author of a book about favourite recipes of DDX3X children
- Families form Poland, Italy, Greece and Irland.
Consultations will take place in Polish, English and Italian.
updated: 2025-03-26