Motor Development

Motor Development

Motor development refers to the development of a child’s bones and muscles the child’s ability to move around and manipulate the environment. Motor development can be divided into gross motor development (involving the larger muscles) and fine motor development (involving the small muscles of the body).

Motor development in CdLS is almost always delayed and developmental milestones should be monitored closely (R16). There is some evidence to suggest children with CdLS caused by a SMC1A gene mutation may reach milestones (e.g. sitting, walking and first words) at a younger age than children with CdLS caused by changes in the NIPBL gene (³). By five years of age, most children with CdLS caused by a change in NIPBL are able to sit, walk independently and start to speak.

Vaccinations should be given to every child with CdLS according to national guidelines (R17). It is common for individuals with CdLS to have recurrent respiratory infections which can affect the sinuses, throat, airways or lungs. Respiratory infections in CdLS are thought to be influenced by differences in anatomy (how the airways have formed), hypotonia (low muscle tone and strength) and poorer co-ordination of swallowing and coughing.
Some individuals with CdLS may have an immunodeficiency. This is where the body’s immune system has a lower ability to fight infection. If the child with CdLS has unusually frequent or severe infections, the GP or paediatrician can make a referral to assess for an immunodeficiency (⁶²).

Thrombocytopenia (low platelet count) can also occur in CdLS. Platelets are blood cells which help the blood to clot to stop bleeding (e.g. when a person falls and grazes their knee). Specific testing is not needed for thrombocytopenia in CdLS and individuals tend to not show symptoms (⁶³,⁶³).

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 lug 2018

Storia della pagina

Ultima modifica di Gerritjan Koekkoek il 2022/09/29 16:10

Creato da Gerritjan Koekkoek il 2019/03/27 15:09