Family highlights
The family Conference
Chair: Dr. Angelo Selicorni, Department of Fondazione MBBM in S. Gerardo Hospital, Monza, Italy
Welcome and introduction
Henrik Hasselstrøm, Chair CdLS Foundation, Denmark
The Danish welfare system in relation to families with handicapped children
Birgit Barnes, Social Worker, Department of Paediatrics, Roskilde Hospital, DK
Health in Adults with Cornelia de Lange Syndrome
Dr. Jane Law, NSW Developmental Disability Health Unit, Ryde, Sydney, Australia
The National Reference Center for Cornelia de Lange Syndrome in Spain:
A necessary service for patients and families - The Spanish Rare Diseases Strategy made true.
Over the last decade, Rare Diseases (RD) have became one of the priorities in health policies of the European Union States, including Spain, which since 2008 has been developing a national strategy for RD, leaded by the Ministry of Health. One of the goals of that strategy was the creation of National Reference Centers (NRC) for RD, whose main goal is to optimize the resources available (material and human) in order to deliver the best care for patients with RD and their families. Cornelia de Lange Syndrome (CdLS) has been among the RD that have been included. Experience during the hospital stay, both medical and psychosocial issues are addressed here. Dr. Feliciano J. Ramos, MD PhD, Universidad de Zaragoza, Zaragoza, Spain
Questions to Jane Law and Feliciano Ramos
Coffee and tea
Chair: Dr. Jolanta Wierzba, PhD, Department of Pediatry, Hematology, Oncology and Endocrinology, Medical University Gdansk
Social and Behavioural Difference in Children and Adults with Cornelia de Lange Syndrome
Dr. Jo Moss, PhD, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, UK and Institute of Psychiatry, King's College London
Cognitive and Behavioural Difference in Children and Adults with Cornelia de Lange Syndrome
Prof Chris Oliver, School of Psychology, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK
Questions to Jo Moss and Chris Oliver relating to sociability, behaviour and cognition
Lunch
Afternoon Session
Chair: Dr. Anne-Marie Bisgaard, PhD, Department of Paediatrics, Herlev Hospital, Denmark
When to suspect epilepsy in Genetic Syndromes Associated with Intellectual Disability?
Dr.Helle Hjalgrim, Danish Epilepsy Centre, Dianalund, Denmark
Aging in Cornelia de Lange Syndrome
Management recommendations for individuals with CdLS can be seen here...
Dr. Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
Coffee and tea
Prognostic and Treatment Recommendations for Speech and Language Development in CdLS.
Information was provided about communication differences specific to CdLS. These differences include speech apraxia, history of babbling, autism, unusual results of hearing tests, vocal quality, asynchronous development of language skills, reduced speech intelligibility, structural differences of the oral cavity, cleft palate, differences in the development of syntax, selective mutism, and disparities between expressive language and cognitive abilities.
Prognostic indications and treatment recommendations are described as they apply to the various levels of ability in this syndrome. Video clips demonstrate speech therapy with two young children with CdLS. Additional treatment options to be addressed include parallel talk and self-talk, sign language, picture exchange systems, and augmentative and alternative communication devices.
Dr. Marjorie Goodban, PhD, CCC-SLP, Professor and Program Director, Speech-Language Pathology Program, Elmhurst College, US
Cognitive and Behavioural Difference in Children and Adults with Cornelia de Lange Syndrome
Prof Chris Oliver, School of Psychology, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK
Questions to Jo Moss and Chris Oliver relating to sociability, behaviour and cognition
Chair: Dr. Antonie Kline, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
Welcome and introduction
Henrik Hasselstrøm, Chair CdLS Foundation, Denmark
Different genotypes and different phenotypes in CdLS: what have we learned up now?
Dr. Angelo Selicorni, Department of Fondazione MBBM in S. Gerardo Hospital, Monza, Italy
Mild CDLS phenotype: a reality not so rare in the CdLS world
Dr. Anna Cereda, Pediatric Clinic MBBM Foundation A.O. San Gerardo Monza, Italy
Questions to Angelo Selicorni and Anna Cereda relating to the phenotypes in CdLS
Coffee and tea
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
Lunch
An overview of the key gastrointestinal problems that children and young people with CdLS may have.
Symptoms can be very varied but the main theme relates to acid reflux and motility problems- gastric emptying and problems with constipation and also diarrhoea. There are some specific anatomical problems that, although rare, can cause dramatic surgical problems, and its best that carers and professionals are aware of them in order that they are not missed. Afterwards, a Danish study of CdLS and gastrointestinal problems will be presented.
Gastro-intestinal problems in Cornelia de Lange syndrome
Dr Peter Gillett, Consultant in Gastroenterology at the Royal Hospital for Sick Children in Edinburgh, Scotland
Gastroesophageal reflux, constipation and urinary tract abnormalities amongst children and adolescents with Cornelia de Lange Syndrome
report from a Danish Study
Dr. Mathilde Hansted, Department of Pediatrics, Hvidovre Hospital, Denmark
A toilet training project
Dr. Margaret Marcon, Division of Gastroenterology, Hepatology and Clinical Nutrition, Hospital for Sick Children, Toronto, Canada
Questions to the Dr. Mathilde Hansted, Dr. Peter Gillett and Dr. Margaret Marcon concerning gastrointestinal problems
Finish
Henrik Hasselstrøm, Chair CdLS Foundation, Denmark
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