Intellectual Disability

Intellectual Disability

Intellectual disability is a term that is used when a person has difficulties with cognitive (intellectual) functioning and adaptive behaviour (everyday practical and social skills). It can also be referred to as developmental disability or learning disability. Intellectual disability can be described as mild, moderate, severe or profound. This indicates the degree of disability and is based on the impact the intellectual disability has on the individual’s day to day functioning.

Most individuals with CdLS have moderate to severe intellectual disability and a small number have mild intellectual disability. Research has suggested that individuals with CdLS caused by an NIPBL mutation usually function at a lower level than individuals with CdLS caused by a mutation in another known CdLS gene, SMC1A (³). The type of NIPBL mutation does not seem to be associated with the level of intellectual disability (¹¹,²⁶,¹³⁷), although missense mutations (single small mutations) have been noted to produce less severe effects, however individuals with an NIPBL mutation can also have mild intellectual disability (¹³⁸).

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 jul. 2018

Sidehistorie

Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10

Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09