Professional Program and handouts

Dr. Angelo Selicomi, Department of Fondazione MBBM in S.Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit

The Complex Role of Cohesin and its Etiology in Cornelia de Lange Syndrome and other Disorders

Dr Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA

Update of SMC1A mutations in Cornelia de Lange syndrome

Dr. 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 tests

Dr. Jacopo Azzollini, Medical Genetics, University of Milan, Italy

The Cognitive and Behavioural Phenotype of Cornelia de Lange Syndrome

Prof. Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK

Selective Mutism in Cornelia de Lange Syndrome

Dr. 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 Syndrome

Dr. Jo Moss, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK and Institute of Psychiatry, King's College London

Correlation between cognitive level, communication abilities and behavior in CDLS

Dr. 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

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

medical issues concerning Cornelia de Lange Syndrome

Dr. 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 syndrome

Jolanta 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 genotypes

Dr. 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 Syndrome

Dr. MathiIde Hansted, Department of Pediatrics, Hvidovre Hospital, Denmark

Thrombocytopenia and Cornelia de Lange syndrome: data from a large Italian cohort

Dr. Angelo Selicomi, Department of Fondazione MBBM in S. Gerardo Hospital Monza Italy, director of the Pediatric Genetic Unit

SAC meeting including future research - SAC members round table discussion

Dr. Anne-Marie Bisgaard, Department of Paediatrics, Herlev Hospital, Denmark

Henrik Hasselstrøm
Chair CdLS Foundation, Denmark

Medical Experiences and Challenges in people with CdLS

a doctors perspective from the CdLS Clinic in NSW, Australia
Dr. Jane Law, NSW Developmental Disability Health Unit, Ryde, Sydney, Australia

Overview of Aging in Cornelia de Lange Syndrome

Dr. Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA

Management and treatment of gastro-intestinal disorders

Dr. Peter Gillett, Consultant in Gastroenterology at the Royal Hospital for Sick Children in Edinburgh, Scotland

Challenging Behaviour in Genetic Syndromes Associated with Intellectual Disability

Prof. Chris Oliver, School of Psychology, Cerebra Centre for Neurodevelop-mental Disorders, University of Birmingham, UK

Dr. Lene Lavard, Department of Paediatrics, Roskilde Hospital, Denmark

The Danish welfare system in relation to families with handicapped children

Social Worker, Birgit Barnes, Department of Paediatrics, Roskilde Hospital, DK

Autism Spectrum Disorders in Genetic Syndromes Associated with Intellectual Disability

Dr. 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 Populations

Dr Marjorie Goodban, Speech-Language Pathology Program
Elmhurst College, US

Understanding and dealing with the gynecologic, urologic and sexual changes that come with puberty

Dr. Natalie Blagowidow, Medical Director, Harvey Institute for Human Genetics, Greater Baltimore Medical Centre, US