Functional abilities in children with Cornelia de Lange syndrome – pilot study
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Department of Physiotherapy, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Poland
Emilia Mikołajewska   

Department of Physiotherapy, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Poland, ul. Techników 3, 85-801 Bydgoszcz
Ann. Acad. Med. Siles. 2019;73:199–202
Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome – BdLS) is a congenital multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, limb abnormalities, and behavioral problems caused by various malformations. Despite the efforts of scientists, previous functional assessments were mainly focused on hearing and vision. The aim of the study was twofold: 1) to show the functional status of children with CdLS, 2) to propose a unified protocol/tool for the aforementioned assessment.

Material and methods:
27 children with CdLS were assessed in terms of functioning and associated limitations using a questionnaire-aided interview and observational functional assessment.

The most common functional problems were contractures (88.89%), deformities (66.67%), and torso asymmetry (66.67%).

The outcomes of the study show the functional status of children with CdLS. Even preliminary findings may shape a further holistic approach to treatment, rehabilitation and care. Moreover the proposed tool was useful. This study could be a good starting point to develop new protocols/tools applicable to such complex diseases. Moreover, further and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient treatment plans.

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