SANAMED, Vol 17, No 3 (2022)

EVALUATION OF A GIRL WITH 16p13.11 MICRODUPLICATION SYNDROME ACCORDING TO THE INTERNATIONAL CLASSIFICATION OF FUNCTIONING, DISABILITY AND HEALTH PERSPECTIVES

Hande Fidan, Mintaze Kerem Gunel, Goknur Haliloglu, Gulen Eda Utine, Pelin Ozlem Simsek Kiper

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.