Abstract
Objective: To present the functional status of a child with 16p13.11 microduplication syndrome by evaluating it under the International Classification of the World Health Organization's International Framework for Functioning, Disability and Health (ICF). Case Description: An 11-year-old girl with 16p13.11 microduplication syndrome was assessed using the tools classified according to ICF for Children and Youth (ICF-CY) categories to evaluate body function, activity participation, and environmental factors. There was a wide range of problems, from body functions to activity participation and environmental factors. Besides these problems, there were social and cognitive disorders as well. Conclusion: Physical and cognitive problems in body function and activity together constitute great barriers to participation in daily life.
Publisher
Centre for Evaluation in Education and Science (CEON/CEES)
Reference8 articles.
1. Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, et al. Underrepresentation of phenotypic variability of 16p13.11 microduplication syndrome assessed with an online self-phenotyping tool (Phenotypr): cohort study. J Med Internet Res. 2021; 23(3): e21023. doi: 10.2196/21023;
2. Unique. 16p13.11 microduplications [Internet]. England and Wales: Rare Chromosome Disorder Support Group; [updated 2019;]. Available from:https://www.rarechromo.org/ media/information/Chromosome%2016/16p13.11%20microduplications%20FTNW.pdf;
3. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, et al. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011; 19(3): 280-6. doi: 10.1038/ejhg.2010.184;
4. Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY, et al. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet. 2011; 56(7): 541-4. doi: 10.1038/jhg.2011.42;
5. Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, et al. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One. 2013; 8(4): e61365. doi: 10.1371/journal.pone.0061365;