Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross‐sectional study...

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Veröffentlicht in:	Journal of intellectual disability research 2020-12, Vol.64 (12), p.956-969
Hauptverfasser:	Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - epidemiology Abnormalities, Multiple - physiopathology Adaptation, Psychological Adaptive behavior adaptive behaviour Adolescent Adult Behavior Behavior problems Bone Diseases, Developmental - epidemiology Bone Diseases, Developmental - physiopathology Child Child, Preschool Cognition Cognitive aspects Comorbidity Craniofacial Abnormalities - epidemiology Craniofacial Abnormalities - physiopathology Cross-Sectional Studies Evaluation Female Follow-Up Studies Humans Intellectual disabilities Intellectual Disability - epidemiology Intellectual Disability - physiopathology Malan syndrome Male Marshall–Smith syndrome Measurement Mental Disorders - epidemiology Mental Disorders - physiopathology Netherlands - epidemiology NFIX variants Phenotype Phenotypes Quality of life Risk behavior Sensory perception Sensory processes sensory processing Septo-Optic Dysplasia - epidemiology Septo-Optic Dysplasia - physiopathology Social development Speech Speech Disorders - epidemiology Speech Disorders - physiopathology Syndrome Variants Young Adult
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