Professional Program and handouts
Programme for the Scientific Symposium
Chair: Dr. Angelo Selicorni, Department of Fondazione MBBM in S.Gerardo Hospital, Monza, Italy and Dr. Anne-Marie Bisgaard, Department of Paediatrics, Herlev Hospital, Denmark
Session | About |
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Welcome | Dr. Angelo Selicomi, Department of Fondazione MBBM in S.Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit |
KEYNOTE | The Complex Role of Cohesin and its Etiology in Cornelia de Lange Syndrome and other DisordersDr Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA |
Update of SMC1A mutations in Cornelia de Lange syndromeDr. Jacopo Azzollini, Medical Genetics, University of Milan, Italy | |
an international survey
| Phenotype in CdLS patients with SMC1A mutations:Dr. Anna Cereda, Pediatric Clinic MBBM Foundation A.O. San Gerardo Monza, Italy |
Large genomic imbalances detected by a-CGH in a cohort of 50 patients with a clinical presentation in the spectrum of Cornelia de Lange found negative to NIPBL and SMC1A mutation testsDr. Jacopo Azzollini, Medical Genetics, University of Milan, Italy | |
KEYNOTE | The Cognitive and Behavioural Phenotype of Cornelia de Lange SyndromeProf. Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK |
Selective Mutism in Cornelia de Lange SyndromeDr. Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA, and Proff Marjorie Goodban, Speech-Language Pathology Program, Elmhurst College, US | |
Gesture utilisation within a social interaction in Cornelia de Lange SyndromeDr. Jo Moss, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK and Institute of Psychiatry, King's College London | |
a study of a cohort of 17 Italian patients | Correlation between cognitive level, communication abilities and behavior in CDLSDr. Maria Antonella Costantino, UONPIA Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano |
Behavioural phenotype and AAC intervention in Cornelia de Lange Sindrome (CdLS)Dr. Maria Antonella Costantino, UONPIA Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano | |
Afternoon welcome | Prof. Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK and Dr. Lene Lavard, Department of Paediatrics, Roskilde Hospital, Denmark |
KEYNOTE | medical issues concerning Cornelia de Lange SyndromeDr. Angelo Selicorni, Department of Fondazione MBBM in S.Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit |
Congenital cardiac malformations in 74 Polish patients with Cornelia de Lange syndromeJolanta Wierzba, Department of Nursery and Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University of Gdansk, Poland | |
Heart malformation and De Lange syndrome: correlation with genotypesDr. Angelo Selicorni, Department of Fondazione MBBM in &Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit | |
Gastroesophageal reflux, constipation and urinary tract abnor-malities amongst children and adolescents with Cornelia de Lange SyndromeDr. MathiIde Hansted, Department of Pediatrics, Hvidovre Hospital, Denmark | |
Thrombocytopenia and Cornelia de Lange syndrome: data from a large Italian cohortDr. Angelo Selicomi, Department of Fondazione MBBM in S. Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit | |
SAC meeting | SAC meeting including future research - SAC members round table discussion |
Chair | Dr. Anne-Marie Bisgaard, Department of Paediatrics, Herlev Hospital, Denmark |
Welcome on behalf of CdLS Denmark | Henrik Hasselstrøm |
a doctors perspective | Medical Experiences and Challenges in people with CdLSa doctors perspective from the CdLS Clinic in NSW, Australia |
Overview of Aging in Cornelia de Lange SyndromeDr. Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA | |
Management and treatment of gastro-intestinal disordersDr. Peter Gillett, Consultant in Gastroenterology at the Royal Hospital for Sick Children in Edinburgh, Scotland | |
Challenging Behaviour in Genetic Syndromes Associated with Intellectual DisabilityProf. Chris Oliver, School of Psychology, Cerebra Centre for Neurodevelop-mental Disorders, University of Birmingham, UK | |
CHAIR | Dr. Lene Lavard, Department of Paediatrics, Roskilde Hospital, Denmark |
The Danish welfare system in relation to families with handicapped childrenSocial Worker, Birgit Barnes, Department of Paediatrics, Roskilde Hospital, DK | |
Autism Spectrum Disorders in Genetic Syndromes Associated with Intellectual DisabilityDr. Jo Moss, Cerebra Centre for Neuroclevelopmental Disorders, School of Psychology, University of Birmingham, UK and Institute of Psychiatry, King's College London | |
Contrasts in Communication Development among the Normal, Autistic, Nonspecific Cognitively Impaired, and Cornelia de Lange Syndrome PopulationsDr Marjorie Goodban, Speech-Language Pathology Program | |
Understanding and dealing with the gynecologic, urologic and sexual changes that come with pubertyDr. Natalie Blagowidow, Medical Director, Harvey Institute for Human Genetics, Greater Baltimore Medical Centre, US | |