Orthotics and Prosthesis Management in Nicolaides-Baraitser Syndrome

ABSTRACT Introduction The research aimed to increase the quality of life in this rare disease by including orthotic and prosthetic treatment approaches, which are not found in the literature, in the treatment protocol of a child with Nicolaides-Baraitser syndrome (NCBRS) diagnosis who has multiple congenital anomalies. In addition to the anomalies seen in different parts of the body of the patient with NCBR, there are deformities and anomalies in the limbs. It was planned to design and produce the most suitable prosthesis and orthosis for the child by making clinical prosthetic and orthotic evaluations. Method Orthoses were produced using two different methods: traditional fabrication and 3D printing. Functional and satisfaction outcomes were measured. Results The Pediatric Balance Scale scores were 36 with the polypropylene knee-ankle-foot orthosis (PP-KAFO) and 30 with the 3D-printed knee-ankle-foot orthosis (3D-KAFO). The timed up and go (TUG) scores were 24.7 seconds with the PP-KAFO and 23.5 seconds with the 3D-KAFO. Pediatric Reach Test results showed similar forward reach for both devices, with slight differences in lateral reach directions. Stride length and stride time increased, while cadence and walking speed decreased with the PP-KAFO compared with the 3D-KAFO. According to the Quebec User Evaluation of Satisfaction with Assistive Technology (QUEST) survey, satisfaction levels ranged from “more or less satisfied” to “very satisfied,” with total satisfaction being equal for both KAFO conditions. Conclusions There is no difference between the 3D-printed orthosis and PP-KAFO in patient satisfaction with NCBRS in the functional tests. Clinical Relevance Orthoses produced with 3D printers can be used instead of orthoses produced using traditional methods. However, larger sample groups are needed.