April 2005
The World Congress on Cornelia de Lange Syndrome in Italy
The Mariani Foundation has organised the Professional Days for the most important annual event dedicated to an in-depth review of an illness that is still relatively unknown.
The Pierfranco and Luisa Mariani NPO Foundation for child neurology is proud to announce that the world annual congress dedicated to the Cornelia de Lange Syndrome will be held in Italy for the first time from 16th to 19th June 2005 in the Fattoria La Principina Conference Centre at Principina Terra (Grosseto).
The Conference's Scientific Committee comprises Alex Levin - University of Toronto, Nicola Principi - De Marchi Paediatrics Clinic - Milan University, Daria Riva and Fabio Sereni - Milan Besta Neurological Institute. While Sergio Luzzani, formerly at the ICP of Milan, Angelo Selicorni � Italian Association scientific coordinator and Paola Marchisio, the latter both from the De Marchi Paediatrics Clinic, are all working in the scientific secretariat.
The Cornelia de Lange syndrome (CDLS) is a multi-malformation pathology described for the first time by a Dutch paediatrician, Dott Cornelia de Lange, in 1933. The syndrome is a rare condition - the most recent estimates by English authors (M. Ireland) refer to percentages of newborn equal to 1/15,000-1/20,000, but also of a significant increase after the '80s - characterised by specific features, retarded growth, hirsutism, small hands and feet or, less frequently, severely stunted other limbs. Moreover, patients suffering from the syndrome can manifest severe malformations of various organs and tracts (palate, heart, kidney, etc.) with a variable frequency; furthermore, a specific increased incidence of well-defined medical complications is known (gastro-intestinal reflux, hypoacousis and recurrent otitis).
Also the psychomotor and intellectual development is generally retarded and the majority of persons suffering from the syndrome have a medium-severe degree of retarded development. Verbal communication skills are particularly at risk and require specific approach strategies in terms of rehabilitation. Furthermore, an incidence of behavioural problems is reported which range from hyperactivity to a limited ability to concentrate to self- and hetero-aggressivity.
The syndrome's diagnosis is still exclusively clinical, since the basic genetic fault has not been defined; therefore, there are no laboratory examinations useful in confirming a clinical suspicion and there is no diagnostic laboratory test for a certain and direct pre-natal diagnosis. A NIPBL gene was identified about one year ago, localised on the short arm of chromosome 5, the mutations of which can be found in approximately 40-50% of the subjects suffering from the syndrome.
Therefore, the conference is an important opportunity for professionals and parents to refresh and update their knowledge about this specific syndrome. In fact, on the one hand, the rare nature of the condition makes it difficult to find doctors and therapists expert in the rehabilitation, educational, preventive and therapeutic approach; on the other hand, the complex aspect of the clinical picture requires a very close multi-disciplinary interaction to address the many and varied problems which the condition presents.
Therefore, the Conference foresees two participation levels: in fact, the Conference will be divided in Professional Days organised from 16th to 17th June and in the Families Conference from 17th to 19th June (already communicated to the press to find volunteers). The Professional days, which are the days dedicated to the "professionals" that address the syndrome every day (reserved for doctors, therapists and interested operators) will be organised by the Mariani Foundation and will be structured with plenary sessions and workshops, the relative sessions will be dedicated to the "Diagnosis of the Cornelia de Lange Syndrome (CDLS)", to the "Medical complications significant for the follow-up of CDLS patients", the "Psycho-intellectual development of the child suffering from CDLS", to "Educational and behavioural aspects" and finally to parallel single-theme Workshops designed for operators.
All the most significant aspects of the clinical picture will be addressed by the world's major experts of the problem in both the part reserved for professionals and the part organised more specifically for parents. Significant time will be dedicated to the experience gained in achieving social integration and the self-sufficiency of the persons suffering from the syndrome, in addition to the medical-rehabilitation aspects, in the part of the conference reserved for parents.
A final consideration: this initiative apparently appears to be reserved to a limited number of professionals that have are involved professionally with persons suffering from the Cornelia de Lange syndrome. This is not the case here. In fact, the Cornelia de Lange syndrome represents a poly-symptomatic pathology model that requires a multi-disciplinary approach. In fact, much of the information and the strategies which will be discussed during these days find a tangible application in a great many similar clinical situations for which the points of contact and overlap far outweigh the differences originating from the specific nature of the clinical picture.
The Conference has been organised with the collaboration of the Italian Cornelia de Lange Syndrome Voluntary Association (Associazione Italiana di Volontariato Sindrome di Cornelia de Lange) and the Milan University Paediatrics Clinic I (I Clinica Pediatrica dell'Universit� di Milano) (Development Neurology Operating Unit) and the Carlo Besta National Neurological Institute (Istituto Nazionale Neurologico Carlo Besta). Furthermore, the Conference is sponsored by the Italian Paediatrics Society (Societ� Italiana di Pediatria), the Italian Human Genetics Society (Societ� Italiana di Genetica Umana), the Clinical Genetics Study Group (Gruppo di Studio di Genetica Clinica) run by the Italian Paediatrics Society (Societ� Italiana di Pediatria), the Clinical Genetics Study Group (Gruppo di Studio di Genetica Clinica) run by the Italian Neonatology Society (Societ� Italiana di Neonatologia), the International Center for Birth Defects (ICBD) and the Italian Neonatology Society (Societ� Italiana di Neonatologia).
On-line subscription is available via the Mariani Foundation's Internet Web Site: www.fondazione-mariani.org for the professional days - the days of the dedicated to the professionals.