Paediatric Medical Care

Paediatric Medical Care

CdLS is usually recognised from birth by an experienced children’s doctor (paediatrician or clinical geneticist). Paediatricians or clinical geneticists play a key part in the clinical care of a child with CdLS. Once an infant or child has been diagnosed with CdLS, they will need to be assessed for common structural abnormalities of the body associated with the syndrome. These may require management or surveillance.

Individuals with CdLS may have heart and/or kidney malformations (birth defects) (⁴⁹). Every infant and young child diagnosed with CdLS should have a heart and kidney assessment by an echocardiogram (heart scan) and kidney ultrasound respectively. If malformations are found, the child may need to be referred to a specialist to help with management. If the diagnosis is made in adolescence, these tests may not be necessary if related symptoms have not been reported (R10).

Rarely, some children with CdLS may show neurological symptoms such as seizures. Seizures are caused by an abnormal discharge of electrical activity in the brain. A test of electrical activity in the brain (electroencephalogram, or EEG) can assess for seizures. Routine brain imaging (e.g. CT or MRI scans) is usually not recommended unless indicated to be of clinical use.

Treatment and surveillance of malformations in children with CdLS are the same as for typically developing children. However, the procedure of intubation (inserting a tube through the mouth into the airway during medical procedures) has been difficult in many children with CdLS. Children may also have an adverse allergic reaction to some anaesthetic medications (such as Midazolam or Versed), though complications from most anaesthetic medications are rare (⁵²,⁵³).

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

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Ultima modifica di Gerritjan Koekkoek il 2020/07/01 10:04

Creato da Gerritjan Koekkoek il 2020/07/01 10:04