Meetings

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

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