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

Hande Fidan; Mintaze Kerem Günel; Göknur Haliloğlu; Gülen Eda Ütine; Pelin Özlem Kiper Şimşek

doi:10.5937/sanamed0-40595

Hande Fidan Department of Physiotherapy and Rehabilitation, Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara
Mintaze Kerem Günel Department of Physiotherapy and Rehabilitation, Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara
Göknur Haliloğlu Department of Child Neurology, Faculty of Medicine, Hacettepe University, Ankara
Gülen Eda Ütine Department of Child Diseases and Health, Faculty of Medicine, Hacettepe University, Ankara
Pelin Özlem Kiper Şimşek Department of Child Diseases and Health, Faculty of Medicine, Hacettepe University, Ankara

DOI: https://doi.org/10.5937/sanamed0-40595

Keywords: 16p13.11 microduplication syndrome, ICF, activity, participation, environmental factors

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.

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