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

• 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

• 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