TOGETHER

  


10th World Conference Cornelia de Lange Syndrome 2019

Together experts and families search for answers, find solutions and share best practice. Our understanding of CdLS is increased and families are better able to deal with challenges of raising their children.Together we strengthen friendship, in an emotionally safe environment. Parents are supported and encouraged to share concerns and and celebrate triumphs.

Family conference

There is a packed conference program on Friday and Saturday where families can learn of the latest developments and strategies for working with people affected by CdLS and hear of health treatments and risks long before the information becomes published. Many of the professionals will be on hand to hold individual private consultations with families to help assess issues affecting the person with CdLS.All main sessions will have simultaneous translation for those languages for which there are 20 or more persons attending. We are also looking for language volunteers to help with interpretation for doctor consults.We are planning a series of trips out suitable for all ages for the siblings and young people attending the conference. And in the evenings there is plenty of fun for all the family at our planned social events.

02/08/2019

09:30 : 10:00

Welcome and opening of the conference by Jürgen Kegel, Gerritjan Koekkoek and Prof. Dr. Gillessen-Kaesbach. The conference is made possible by the family groups of Germany and the Netherlands. The municipality of Bad Neuenahr-Ahrweiler would like to welcome all visitors and express their hospitality. 

Moderators for today will be Dr. Armand Bottani and Dr. Sylvia Huisman. They will guide us through the day and make sure that the interactive sections run smoothly.

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Gabriele Gillessen-Kaesbach
Prof. Dr. Med. President from the "Universität zu Lübeck" (University of Lübeck)
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Sylvia huisman
MD PhD, Amsterdam University Medical Center, Amsterdam, and Prinsenstichting, Purmerend, The Netherlands.
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Armand Bottani
MD, Board-certified in Medical Genetics Service of Genetics Institut Central des Hôpitaux - Hôpital du Valais, Sion, Switzerland
10:00 : 10:45

A thorough introduction to Cornelia de Lange Syndrome.
Our experts will introduce:

Genetic causes and molecular mechanisms in CdLS

To understand the reason why people get CdLS we will be introduced into the Genes and even more specific parts of the genes. What about a next child, will it also get CdLS?
Why can‘t we cure CdLS?
What will the future bring? As we understand more and more about the genes...

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Frank Kaiser
Professor of Functional Genetics and Human Genetics, Institute of Human Genetics, University of Lübeck, Germany
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Matt Deardorff
MD PhD, Associate Medical Director, Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia, USA
10:45 : 11:15
Morning break
11:15 : 12:00

A thorough introduction to Cornelia de Lange Syndrome.
Our experts will introduce:

The different 'phenotypes' in CdLS

It will be explained which 'features' are common in CdLS and why we see so many similarities with our children. But also why we see milder manifestations and more severe manifestations.
We will also be introduced to the more hidden features, the 'inside the body' features that can have an impact on the health of our children:

An 'overview' of CdLS

12:00 : 13:30
Lunch
13:30 : 14:15

Neurology

Often people with CdLS clearly show signs of pain. Prof. Dr. Peter Martin will talk about how pain is experienced in CdLS, how neurological pathways influence registration of pain and what this means for daily care and functioning. How do the senses of people with CdLS interact with the brain? How do they respond on pain signals and what does this mean?

30 minutes presentation

15 minutes for questions and interaction

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Peter Martin
Prof. Dr. Med., Chief physician Séguin-clinic, Center for Epilepsy, Kork
14:15 : 15:00

What about cognitive, emotional and social development? What is compulsive behaviour? What are stereotypical behaviour signs? What other forms of behaviour do we see.
Does it change when a child develops into a teenager, young adult or adult?

Discuss and learn about it.

20-25 minutes talk by Chris Oliver

20-25 minutes of interaction

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Chris Oliver
Professor of Neurodevelopmental Disorders, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK
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Paul Mulder
MSc, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands.
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Inge van Balkom
MD PhD, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands
15:00 : 15:30
Afternoon break
15:30 : 16:15

We, as people, are social beings. Our Cornelias are for sure. They are very interested in their social environment. And like ourselves they get a lot of joy when they are understood and people help them in what they want to achieve. But expressive communication is a challenge.

The behaviour that is shown in people with CdLS can be confusing but when understood can give you a wealth of information.
It can be another form of communication that can tell as much as words normally do.

How can we understand what they are trying to say? What does it mean? Can they learn to communicate in ways others can better understand? This session is about what we can do and what can be achieved in this field of communication.

20-25 minutes introduction by Marleen Janssen

20-25 minutes of interaction

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Marleen Janssen
Professor at the Department of Special Needs Education at the University of Groningen in the Netherlands.
https://www.cdlsworld.org/xwiki/bin/download/XWiki/PaulMulder/Profielfoto%20%281%29.jpg?width=400&keepAspectRatio=true&rev=1.2" class="schedule-item-speaker-foto">
Paul Mulder
MSc, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands.
16:15 : 17:00

Having relationships with family members, friends, fellow students, animals. It certainly enriches your world.

What can we expect in this area? And what about Boyfriends or Girlfriends? Sexuality? And what about self-care regarding bodily changes and hormonal cycles?

Basically they all relate to being capable and ready for relationships.

15 minutes introduction by Antonie Kline

30 minutes for interaction, questions and discussion

https://www.cdlsworld.org/xwiki/bin/download/XWiki/IngevanBalkom/balkom.png?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Inge van Balkom
MD PhD, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands

03/08/2019

09:30 : 09:45

We hope you have all had a great evening and good night's rest.
The second day will be at least as interactive as the first day.

Again Dr. Sylvia Huisman and Dr. Armand Bottani will be moderators for the day

https://www.cdlsworld.org/xwiki/bin/download/XWiki/SylviaHuisman/sylvia.png?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Sylvia huisman
MD PhD, Amsterdam University Medical Center, Amsterdam, and Prinsenstichting, Purmerend, The Netherlands.
https://www.cdlsworld.org/xwiki/bin/download/XWiki/ArmandBottani/armand.jpg?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Armand Bottani
MD, Board-certified in Medical Genetics Service of Genetics Institut Central des Hôpitaux - Hôpital du Valais, Sion, Switzerland
09:45 : 10:30

What is this nasty pain causing problems? How can we best treat the problem?
How does it affect daily life and what are the effects (usually not good!)? Rest assured, it can be treated quite effectively once you recognise that there is reflux.

Resolving the pain for your Cornelia will be one of the biggest gains in your quest for happiness and at least 10 smiles a day.

This session is recommended for all young families, as being well informed about reflux is very important.

20-25 minutes introduction by Peter Gillett & Angelo Selicorni

20-25 minutes for interaction, questions and discussion

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Peter Gillett
Consultant Paediatric Gastroenterologist at the Royal Hospital for Sick Children, Edinburgh Scotland, UK.
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Angelo Selicorni
MD, Director of Pediatric Unit at ASST Lariana Como, Italy
10:30 : 11:15

Eating healthy food and drinking are essential for a pleasant life, so this is true as well for Cornelias.

But the genes can create some hurdles to be aware of. We often talk about the 'tube' from mouth to .... (where you go to the toilet)
Cornelias can have issues in this tube; from the beginning to the very end.

Swallowing, drinking… Why does the tummy seem to hurt, and why isn't the stool ok?

Why is my child not growing as fast as other children and is that problematic?

These and many other topics about the digestive system will be discussed. And again, we have learned so much about how most of these issues can be dealt with. Not least from tips from other parents.

10 minutes of introduction by Anne-Marie Bisgaard, Angelo Selicorni and Peter Gillett. They both have their own expertise regarding the above mentioned subjects and will introduce themselves briefly.

30 minutes for interaction, questions and discussion.

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Peter Gillett
Consultant Paediatric Gastroenterologist at the Royal Hospital for Sick Children, Edinburgh Scotland, UK.
https://www.cdlsworld.org/xwiki/bin/download/XWiki/AngeloSelicorni/thumbnail_Angelo%20Selicorni.jpg?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Angelo Selicorni
MD, Director of Pediatric Unit at ASST Lariana Como, Italy
11:15 : 11:45
Morning break
11:45 : 12:30

Keeping your body and mind in balance requires a balanced interaction between you and your environment. How do Cornelias process signals they receive from their environment? How do they respond to it and what does this tell us about their feeling of safety or anxiety?

When the interaction between you and your environment is well-balanced, this often leads to a feeling of security and well-being.
How can we understand and take care of a safe and properly adapted (learning) environment?

20-25 minutes introduction regarding sensory processing / experiencing the world.

20-25 minutes for interaction, questions and discussion.

https://www.cdlsworld.org/xwiki/bin/download/XWiki/PaulMulder/Profielfoto%20%281%29.jpg?width=400&keepAspectRatio=true&rev=1.2" class="schedule-item-speaker-foto">
Paul Mulder
MSc, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands.
https://www.cdlsworld.org/xwiki/bin/download/XWiki/IngevanBalkom/balkom.png?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Inge van Balkom
MD PhD, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands
12:30 : 14:00
Lunch
14:00 : 14:45

A Cornelia will develop, he or she will move around, learn by visiting a school or care center. At a certain age there needs to be a fulfilling day program. Working or maybe just spreading love and and allowing society to show its best by including people that are different in daily life.

Every child has a right to be taught the skills required for the best possible quality of life. Let's see what we have here..

And with so much activity we all need a place to live. There might come a time that the nesting period is over and our Cornelia needs to fly: Adolescence and transition to a new living environment

https://www.cdlsworld.org/xwiki/bin/download/XWiki/MarleenJanssen/marleen.jpg?width=400&keepAspectRatio=true&rev=1.1" class="schedule-item-speaker-foto">
Marleen Janssen
Professor at the Department of Special Needs Education at the University of Groningen in the Netherlands.
14:45 : 15:15
Afternoon break
15:15 : 16:00

What about us, the parents, the brothers, the sisters, the carers?

It certainly is worth the effort to strengthen ourselves, our relationships by claiming time for yourself. And it is not 'weak' or 'wrong' to cry, to feel overwhelmed. But there are possibilities for 'refuelling', taking a very special vacation…

What have the 'elders' done to prevent their life from collapsing? What errors did they make that we can avoid? What lessons can they recommend? 

16:01 : 16:30

We will summarise the past two days.
We will thank the families, volunteers and experts for the time and effort invested in the event
We will celebrate some special awards
We hope to announce the next conference
We will close the conference and prepare for the Gala Dinner

Tags:
Created by Gerritjan Koekkoek on 2019/02/14 11:13

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