College of Education
Department of Kinesiology
Bachelor of Science (B.S.)
The B-cell lymphoma/leukemia 11A (BCL11A) gene plays an important role in the development of the brain. A mutation of the BCL11A gene causes individuals to have developmental delays among other abnormalities. Two of the key symptoms are hypotonia and hypermobility. These two issues contribute to hyperextension of the knee joint. To help limit the hyperextension presented in the patient studied, this project utilizes rapid-prototyping technology through 3D-printing to develop an adjustable, custom knee brace that will attach to the patient’s current ankle-foot orthoses (AFOs). Through a series of qualitative and quantitative assessments, the effectiveness of this patient-specific knee brace will be determined. If successful, this brace could open doors for a novel way to fabricate cost-effective, time efficient, adjustable orthotics. A BCL11A gene mutation is a rare condition and in the context of this study only one patient was tested. However, the methods presented to mitigate hyperextension go beyond this mutation, potentially impacting numerous patients living with hypermobility symptoms. While an exact number of people who suffer from hypotonia cannot be determined, those who suffer from diseases such as cerebral palsy, muscular dystrophy, Down syndrome, Tay-Sachs disease, and Multiple Sclerosis suffer from hypotonia to a certain degree. In the context of this paper, the hypotonia and hyperextension shown by our patient will be studied, along with the fabrication of a knee brace to mitigate these symptoms.
Reeves, Reilly, "The BCL11A Gene and the 3D Printing of an Adjustable Hyperextension Orthotic Knee Brace for Patients with Hypotoni" (2019). Honors Theses. 63.