The contribution of occupational therapy in the holistic management of a child with tetra-amelia syndrome

Abstract

Introduction: Tetra-Amelia Syndrome (TAS) is a rare genetic disorder characterised by the WNT3 gene mutation and a clinical presentation of an absence of all four limbs. It creates a tremendous physical limitation for children and adults living with this condition. They require continuous support throughout their lives to function as optimally as they can. Occupational therapists often help children and adults with severe physical limitations to participate by adapting activities, enhancing occupational performance and participation and applying assistive technology. Aims: The aims of this research study was to explore and describe the contribution of occupational therapy in the holistic management of TAS. · Explore and describe how occupational therapy contributed to the development of occupational engagement in a young child with TAS. · Explore and describe how assistive technology contributed to the development of occupational engagement in a young child with TAS. · To reflect on future considerations for an individual with TAS. Methodology: A single case study design was used to explore and describe the general nature of the case holistically from a variety of angles. Purposive sampling was used to select one unique individual case of a child with Tetra-Amelia Syndrome. Multiple sources of data included existing reports, videos/photographic evidence, semi-structured interviews with key role players and formalised testing with regards to participation in play, school and activities of daily living. The researcher used content analysis as described by Elo and Kyngäs (2008) to analyse the transcribed interviews. The themes identified included: Occupational engagement, Assistive technology (AT), therapeutic intervention, children’s rights and future considerations. Findings & Conclusion: Occupational therapy intervention has proved to provide a significant contribution in the occupational engagement of a child with TAS. Early intervention in her case has supported and paved her way to enhanced participation and performance in ADL, IADL, play, social and school occupations. Assistive technology including wheelchairs, tablets, laptops and low technology devices have further enabled her to overcome the physical barriers she encounters on a daily basis in aspects like mobility, self-care, play and academic pursuits. By encompassing the frameworks, models and principles of occupational therapy, the ongoing process of assessment, intervention and clinical reasoning has proved imperative to the success of this case. By looking at this case holistically and considering the person, environment and what occupations are important and meaningful, an occupational therapist can contribute greatly to the overall quality of life, wellness and satisfaction of a child with TAS.