Diagnose und Behandlung des Cornelia-de-Lange-Syndroms

erste internationale Konsenserklärung
(Angepasst für leichten Zugang und breitere Verteilung).

1. What is Cornelia de Lange Syndrome?
2. What causes Cornelia de Lange Syndrome?
3. How is Cornelia de Lange Syndrome Diagnosed?
4. What medical care may a child with CdLS need?
5. What health difficulties might a child with CdLS face?
6. Welche Kognitions- und Verhaltensmerkmale sind typisch für das Cornelia-de-Lange-Syndrom?
7. Do Cognitive and Behavioural Characteristics Change with Age in CdLS?
8. Care Planning in CdLS

• Full List of Recommendations
• References
• Supplementary Box 1. Cornelia de Lange syndrome emergency card
• Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.
• Table 4. Studies reporting level of developmental delay in individuals with Cornelia de Lange syndrome

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018). Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666.}

The text of these pages and figures 1, 2, 3, 4 and 5, tables 1 and 2, and box 1 are adapted from the original article.

Adaptation, the English baseline version,  written by: Lauren Shelley, Rachel Royston, Chris Oliver, Tonie Kline, David Fitzpatrick, Bjorn Harris, Steve Knight, Alan Peaford, Jules Harris, David Axtell, Charlie Blockley, Sara Peaford and Natalie Blockley.

Work on the adaptation was funded by a grant from Cerebra to the University of Birmingham

_{Note: References to published papers will be indicated by (number), e.g. (1) or (2). The full reference for the paper can be found next to the corresponding number in the reference section at the end of the document.}

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Juli 2018

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