Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/ Brachman de Lange syndrome in children

Introduction: Cornelia de Lange syndrome (CdLS) is a rare genetic disease. Children with CdLS typically require physical therapy, however evidence on the efficacy of Physiotherapy intervention in this population is limited. Objective: The aim of this review is to design Physiotherapy treatment protocol for the CdLS population. Study Eligibility Criteria: ‏Articles published only in English between July, 2006 and February, 2022 were included which investigated the role of Physiotherapy to CDLS patients. Method: We use six databases which includes, MEDLINE/PubMed, SCOPUS, PEDro, CINAHL, EBSCO and Cochrane were searched with predefined keywords specific to or related to PT interventions from 2006 to February, 2022 for the full-text English language articles. Results: from the 12 articles identified, 6 papers were involved in the review which was deemed as being of high quality. Conclusion: Physiotherapy treatments are playing an important role in improving fine and gross motor function and participation during daily activities in a child with CdLS. Recommendations: To evaluate the efficacy of Physiotherapy treatments in children with CdLS, bigger group studies are needed.