Families Conference
Families Conference Day 1
- 08:00 - Opening of the registration desk for families and professionals
- 09:30 - CdLS Session (I)
- I'm João and I'm a CdLS boy - Angelo Selicorni/ Prof. Luís Nunes (Raríssimas – Portugal and João David (CdLS Boy)
- Different Genes, Variable Phenotype – Antonie Kline
- Somatic mosaicism in the Cornelia de Lange Syndrome – patient with NIPBL mutation identified by different next generation sequencing approaches – Frank Kaiser
- Discussion
- 11:00 – Coffee break
- 11:30 - Genetics II
- Prenatal diagnosis – Frank Kaiser
- How genetics can help us - now and in the future – Prof Margarida Reis Lima (Raríssimas – Portugal)
- Why clinical diagnosis is so important: follow-up’s and emergency care protocols – Angelo Selicorni
- Discussion
- 13:00 – Lunch
- 14:30 - Global Challenges (I)
- Psychomotor evaluation and rehabilitation - Clara Almeida
- How to promote communication in a CdLS person - Antonella Constantinou
- How to recognize and treat behavioural problems in CdLS - Jo Moss
- Discussion
- 16:00 – Coffee Break
- 16:30 - Global Challenges (II)
- Neuropsychiatric adult care – José Pedro Vieira
- Resistance to change and spectrum dependency among children with CdLS – Bjorn S. Hoem (Norway)
- The burden for a family - Maria do Céu Seabra & Emanuel Basile
- Discussion
- 18:00 – Closing
++ Gala Dinner ++
- 20:00
Families Conference Day 2
- 09:30 - CdLS Particular Clinical Issues
- I’m a CdLS boy – Anne Marie Bisgaard (TBC) and Sylvia Huisman
- GERD – Isabel Afonso
- Anesthesia and Cdls: risks and false fears – Alessandra Moretto (TBC)
- Medical problems to consider in a CdLS person: Presenting the clinical protocol – Angelo Selicorni
- Discussion
- 11:00 - Coffee break
- 11:30 - PARALLEL SESSIONS
- Room A Classic – Paediatric Age on CdLS
- Paediatric age on CdLS – Prof. Luís Nunes (Moderator)
- Medical follow-up – Feliciano Ramos
- Rehabilitation approach – Paula Ajmone (TBC)
- Behaviour and communication questions – Emanuele Basile (TBC)
- School Challenges – Mary Morse (TBC)
- Dental Issues – Douglas Clemens (TBC)
* - Discussion
- ROOM B – Mild - Paediatric Age on CdLS
- Paediatric age on CdLS – Salomé de Almeida (Moderator)
- Medical follow-up – Sylvia Huissman
- Dental Issues – Douglas Clemens (TBC)
- Rehabilitation approach – Clara Almeida
- Behaviour and communication questions – Paul Mulder (TBC)
- School Challenges – Mary Morse (TBC)
* - Discussion
- ROOMS X to Z
- Clinical Consultations
- Room A Classic – Paediatric Age on CdLS
- 13:00 – Lunch
- 14:30 – PARALLEL SESSIONS
- ROOM A - Classic - Young and adult age on CdLS
- Adult age on CdLS– José Pedro Vieira
- Medical Follow-up – Antonie Kline
- Sexuality – Natalie Blagowidow (TBC)
- After School Life – whats now? – Anna Contardi (TBC)
* - Discussion
- ROOM B - Mild - Young and adult age on CdLS
- Adult age on CdLS– Angelo Selicorni (Moderator)
- After School Life – (what’s now?) – Anna Contardi (TBC)
- Medical Follow-up - Antonie Kline
- Sexuality – Natalie Blagowidow (TBC)
* - Discussion
- ROOMS X to Z
- Clinical Consultations
- ROOM A - Classic - Young and adult age on CdLS
- 16:00 - Coffee break
- 16:30 – Session D - Answers for Future Life
- Casa dos Marcos – Maria João Freitas
- Jenny Rollo's story
- Clinical Cornelia Day - Anna Cereda (TBC)
- 18:00 – Closing
