Adaptive behaviour in CdLS

Adaptive behaviour in CdLS

Adaptive behaviours are age-appropriate behaviours that people need to function well in daily life and live independently. Adaptive behaviours include life skills such as dressing, grooming, food handling, safety, making friends, communication, cleaning, managing money and ability to work.
Individuals with CdLS demonstrate difficulties in adaptive behaviour across the lifespan. This means that many children and adults with CdLS will need help with daily tasks, such as washing and dressing. Many individuals with CdLS do not develop verbal communication skills. Expressive communication skills (ability to express oneself) are usually significantly more impaired than receptive language skills (ability to understand communication). Individuals with CdLS often use a number of non-verbal strategies to communicate, for example, social approach and pushing a person’s hand away.

Adaptive behaviour difficulties are usually more marked in individuals with CdLS caused by a NIPBL mutation (¹⁴⁸,¹⁴⁹). Difficulties in adaptive behaviour in CdLS are comparable to difficulties seen in Angelman syndrome and Rubinstein-Taybi syndrome, though deficits in adaptive skills are usually more marked in CdLS compared to other genetic conditions (¹⁵¹,¹⁵²,¹⁵³,¹⁵⁰). Adaptive behaviour skills in CdLS can change over time and changes tend to vary depending on the specific skill. For instance, individuals tend to show increases in specific self-help skills with age (for example, washing and feeding) and decreases in other skills (for example, ability to call for help or to move independently) (¹⁰,¹⁵⁴,¹⁰⁹). However, reports of changes in adaptive behaviour skills vary, and more research is needed (¹⁰⁹,¹⁵⁵).

To enhance independence in CdLS, it is important to increase adaptive skills throughout the lifespan. Cognitive strengths and weaknesses should be assessed in order to design personalised educational and interventional programmes that should include specific goals for the individual. Additional developmental and educational support should be provided to individuals with CdLS to reach their maximum cognitive and educational potential, taking into account their specific cognitive impairments (R51,R52,R53).

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

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09