EVALUATION OF A GIRL WITH 16p13.11 MICRODUPLICATION SYNDROME ACCORDING TO THE INTERNATIONAL CLASSIFICATION OF FUNCTIONING, DISABILITY AND HEALTH PERSPECTIVES
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.
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.
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
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.
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.
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.
Haefeli M, Elfering A. Pain assessment. Eur Spine J. 2006;15(Suppl 1):S17-24. doi: 10.1007/s00586-005-1044-x.
Pennington L, Hustad KC. Construct validity of the viking speech scale. Folia Phoniatr Logop. 2019;71(5-6):228-237. doi: 10.1159/000499926.
Çankaya Ö, Environmental in children with cerebral palsy between factors and activity and participation examination of the relationship. Doctorate Thesis. 2019. Hacettepe University, Ankara
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