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
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).

Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10
Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09



Om indholdet af hjemmesiden

Alle oplysninger på dette websted er udelukkende til undervisningsformål. Det er din læge, der er det rette sted at få specifik medicinsk rådgivning, diagnoser og behandling. Brug af dette websted sker udelukkende på eget ansvar. Hvis du finder noget, som du mener, der skal rettes eller præciseres, bedes du give os besked på: 

Send en e-mail: