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402 The challenge of medical information on the internet: The experiences of Orphanet dedicated to the rare diseases and orphan drugs
A56
Abstracts
402
The challenge of medical information on the internet: The experiences of Orphanet dedicated to the rare diseases and orphan drugs S AYMi, D OZIEL, B URBERO, E LECOUTURIER, F REBOUL-SALZE, L CHOZLAN INSERM SC1 7, Gene Mapping Villejuii, France
and Clinical
Research,
Ensuring highly effective health care for individuals with rare diseases requires a considerable amount of knowledge to be available to patients, health care professionals and researchers. To improve the referral to specialized clinics and provide high quality information to the physicians and the community, a database on rare diseases and orphan drugs was established in France, jointly by the Ministry of Health and the INSERM. It was designed to assist in diagnosing and treating rare diseases, as well as to further clinical research. The current version of Orphanet is available in both French and English. It presently includes detailed information on 700 diseases, clinical laboratories providing diagnostic tests, on-going research projects, relevant support groups, specialized clinics and addresses of other websites. Even if the current version of Orphanet is restricted to French data, the French funding agencies have had the project to build up a European database from the start. The two first years were dedicated to the design of the project, a study of its feasibility and an analysis of the needs of the consumers. The inclusion of data from other European countries is on the way. The site opened officially on 1 January 1998. The number of connections has been steadily increasing and as of July 1999, it reaches about 7000 per day. Half are from professionals, either physicians or scientists, and half are from patients or their relatives and friends. Orphanet is accessible on the world wide web at the address: http//oupahent.infobiogen.fv. The problems raised by this project are: the validation of the information in areas where the knowledge is scarce, the dissemination to the public of information which would be traditionally restricted to the professionals, the updating process, the legal issues, the criteria to validate the information on resource centres. They will be discussed.
385
EEC in early diagnosis of Angelman syndrome P BERQUIN,’ G MORIN,’ F WALLOIS,2 J KHATER-BOlDIN,’ M MATHIEU’ ‘Unit& de neurologie pe’diatrique et de ge’ne’tique clinique, Service pe’datrie I, Chu Amiens; 2Unite’ d’exploration fonctionnelle neuropediatrique, Chu amiens, France
Angelman syndrome is a rare genetic and neurologic disorder characterized by severe mental retardation, dysmorphy, inappropriate laughter, ataxic gait and peculiar jerky movements. Convulsions of varied type are present in more than 80% of cases, they usually begin before 5 years of age. This syndrome, usually sporadic, is one of the best examples of human imprinted disease. De ncuo maternal deletions at 15qll-ql3 are found in about
70% of cases. Other complex abnormalities in the same chromosome 15 region are less frequent: uniparental disomy (Z-3%), ‘imprinted mutations’ (2-5%), UBE3A gene mutations (3-5%). Up to now, for 20% of cases, there is no biological genetic marker and only clinical features support the diagnosis. However, early diagnosis is needed for genetic counselling. Because ataxia, craniofacial dysmorphia, and specific behaviour are absent or moderate during infancy, Angelman syndrome is still usually diagnosed late. We report four cases of Angelman syndrome in which the diagnosis has been suggested early by specific EEG pattern, then confirmed by molecular biology during the first 2 years of life. The four patients all had hypotonia and were characterized by generalized high-amplitude (200-500 pV) 2-3 Hz rims, associated with spikes and sharp waves. Generalized epilepsy occurred in two cases during the first year of life, tonic-clonic seizures in one case, and astaticmyoclonic seizures in the other. EEG is helpful for the early diagnosis of Angelman syndrome in infancy when characteristic clinical features are not obvious. It should be performed in infants having psychomotor retardation even in the absence of seizures.
413
Reye syndrome revisited M CASTEELS-VAN DRAELE, C VAN GEET, E EGGERMONT Department Universitait
of Paediatrics, University Leuven, Belgium
Hospitals,
Katholieke
Reye syndrome is a non-specific clinicopathological entity, a descriptive term covering a group of heterogeneous disorders, characterized by a combination of liver disease and non-inflammatory encephalopathy. Nowadays, the same patients are - thanks to medical progress and to more sophisticated diagnostic facilities - diagnosed more correctly as having infectious, or metabolic, or toxic disease or others. The non-specific case definition implies that the epidemiological studies suggesting a link with aspirin have been performed on a heterogeneous group of children. Even in the two Task Force reports only 15 out of a total of 57 patients (26%) had histological support for the diagnosis in the form of microvesicular lipid accumulation in the liver, a finding that may have many causes. Neither is the reader told whether the specific mitochondrial abnormality was ever demonstrated on electronmicroscopy. Also the Yale study (1989) - which tried to avoid the biases of the Centers for Disease Control (CDC) studies - gives evidence for the non-specificity of Reye syndrome: of the 25 patients with ‘definite Reye syndrome’ only eight had undergone liver biopsy, and only 12 were screened for inborn errors of metabolism, the screening being limited to biochemical analyses of urine samples only, and thus incomplete. This heterogeneity of the cases weakens already the value of these studies and their ensuing hypothesis since the definition of a ‘case subject’ must be specific for the case
Abstracts
402
The challenge of medical information on the internet: The experiences of Orphanet dedicated to the rare diseases and orphan drugs S AYMi, D OZIEL, B URBERO, E LECOUTURIER, F REBOUL-SALZE, L CHOZLAN INSERM SC1 7, Gene Mapping Villejuii, France
and Clinical
Research,
Ensuring highly effective health care for individuals with rare diseases requires a considerable amount of knowledge to be available to patients, health care professionals and researchers. To improve the referral to specialized clinics and provide high quality information to the physicians and the community, a database on rare diseases and orphan drugs was established in France, jointly by the Ministry of Health and the INSERM. It was designed to assist in diagnosing and treating rare diseases, as well as to further clinical research. The current version of Orphanet is available in both French and English. It presently includes detailed information on 700 diseases, clinical laboratories providing diagnostic tests, on-going research projects, relevant support groups, specialized clinics and addresses of other websites. Even if the current version of Orphanet is restricted to French data, the French funding agencies have had the project to build up a European database from the start. The two first years were dedicated to the design of the project, a study of its feasibility and an analysis of the needs of the consumers. The inclusion of data from other European countries is on the way. The site opened officially on 1 January 1998. The number of connections has been steadily increasing and as of July 1999, it reaches about 7000 per day. Half are from professionals, either physicians or scientists, and half are from patients or their relatives and friends. Orphanet is accessible on the world wide web at the address: http//oupahent.infobiogen.fv. The problems raised by this project are: the validation of the information in areas where the knowledge is scarce, the dissemination to the public of information which would be traditionally restricted to the professionals, the updating process, the legal issues, the criteria to validate the information on resource centres. They will be discussed.
385
EEC in early diagnosis of Angelman syndrome P BERQUIN,’ G MORIN,’ F WALLOIS,2 J KHATER-BOlDIN,’ M MATHIEU’ ‘Unit& de neurologie pe’diatrique et de ge’ne’tique clinique, Service pe’datrie I, Chu Amiens; 2Unite’ d’exploration fonctionnelle neuropediatrique, Chu amiens, France
Angelman syndrome is a rare genetic and neurologic disorder characterized by severe mental retardation, dysmorphy, inappropriate laughter, ataxic gait and peculiar jerky movements. Convulsions of varied type are present in more than 80% of cases, they usually begin before 5 years of age. This syndrome, usually sporadic, is one of the best examples of human imprinted disease. De ncuo maternal deletions at 15qll-ql3 are found in about
70% of cases. Other complex abnormalities in the same chromosome 15 region are less frequent: uniparental disomy (Z-3%), ‘imprinted mutations’ (2-5%), UBE3A gene mutations (3-5%). Up to now, for 20% of cases, there is no biological genetic marker and only clinical features support the diagnosis. However, early diagnosis is needed for genetic counselling. Because ataxia, craniofacial dysmorphia, and specific behaviour are absent or moderate during infancy, Angelman syndrome is still usually diagnosed late. We report four cases of Angelman syndrome in which the diagnosis has been suggested early by specific EEG pattern, then confirmed by molecular biology during the first 2 years of life. The four patients all had hypotonia and were characterized by generalized high-amplitude (200-500 pV) 2-3 Hz rims, associated with spikes and sharp waves. Generalized epilepsy occurred in two cases during the first year of life, tonic-clonic seizures in one case, and astaticmyoclonic seizures in the other. EEG is helpful for the early diagnosis of Angelman syndrome in infancy when characteristic clinical features are not obvious. It should be performed in infants having psychomotor retardation even in the absence of seizures.
413
Reye syndrome revisited M CASTEELS-VAN DRAELE, C VAN GEET, E EGGERMONT Department Universitait
of Paediatrics, University Leuven, Belgium
Hospitals,
Katholieke
Reye syndrome is a non-specific clinicopathological entity, a descriptive term covering a group of heterogeneous disorders, characterized by a combination of liver disease and non-inflammatory encephalopathy. Nowadays, the same patients are - thanks to medical progress and to more sophisticated diagnostic facilities - diagnosed more correctly as having infectious, or metabolic, or toxic disease or others. The non-specific case definition implies that the epidemiological studies suggesting a link with aspirin have been performed on a heterogeneous group of children. Even in the two Task Force reports only 15 out of a total of 57 patients (26%) had histological support for the diagnosis in the form of microvesicular lipid accumulation in the liver, a finding that may have many causes. Neither is the reader told whether the specific mitochondrial abnormality was ever demonstrated on electronmicroscopy. Also the Yale study (1989) - which tried to avoid the biases of the Centers for Disease Control (CDC) studies - gives evidence for the non-specificity of Reye syndrome: of the 25 patients with ‘definite Reye syndrome’ only eight had undergone liver biopsy, and only 12 were screened for inborn errors of metabolism, the screening being limited to biochemical analyses of urine samples only, and thus incomplete. This heterogeneity of the cases weakens already the value of these studies and their ensuing hypothesis since the definition of a ‘case subject’ must be specific for the case