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Faculty of Medical Sciences

Van variatie naar verbetering: Motorische ontwikkeling bij kinderen met CHARGE-syndroom

SCHOLTE LUBBERINK, ANOUK (2025) Van variatie naar verbetering: Motorische ontwikkeling bij kinderen met CHARGE-syndroom. thesis, Medicine.

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Abstract

Background: Motor development in children with CHARGE syndrome, a genetic condition involving, among other things, hearing and vision problems, is a complex process influenced by sensory and physical impairments. These children often experience difficulties with balance, coordination, and muscle tone. Understanding their early motor development is important for targeted interventions. Method: In this cross-sectional study conducted at the UMCG, motor development of children under 3.5 years with CHARGE syndrome was assessed using the Infant Motor Profile (IMP). Motor behavior was analyzed based on video recordings. Additionally, medical records and the Ages and Stages Questionnaire (ASQ) were used to identify factors influencing motor development. Results: The 12 included patients showed wide variability in both IMP and ASQ scores. All children scored below the fifth percentile on the IMP total score, with gross motor skills (ASQ) being the most affected domain. Significant negative correlations were found between combined the combined score of hearing and vision loss and IMP scores for adaptability (r = -0.61) and motor performance (r = -0.69), where higher IMP scores indicate better motor development. Positive correlations were found between ASQ communication and IMP total score (r = 0.70) and symmetry (r = 0.83), as well as between ASQ fine motor skills and IMP variation (r = 0.78). Regression analysis showed that ASQ variables together explained 92.5% of the variance in the IMP total score (p = 0.01). Conclusion: Children with CHARGE syndrome exhibit severe motor delays, influenced by vision loss, other sensory impairments and linked to other developmental domains. This underlines the importance of early, multidisciplinary support.

Item Type: Thesis (UNSPECIFIED)
Supervisor name: Hielkema, Dr. Tjitske and Heineman, Dr. Kirsten and Hitzert, Dr. Marrit
Faculty: Medical Sciences
Date Deposited: 04 May 2026 13:14
Last Modified: 04 May 2026 13:14
URI: https://umcg.studenttheses.ub.rug.nl/id/eprint/3941

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