© 2019 Cheryl R. Espinosa
Background and Purpose: Pallister-Killian Syndrome (PKS) is a rare genetic disorder resulting from an additional short arm in chromosome 12. This condition leads to varying levels of multi-system impairments that impact a child’s development in gross motor skills yielding functional limitations. Pediatric physical therapy (PT) management is crucial for these children to facilitate improvements in sitting, standing, and ambulation. The purpose of this case report was to describe functional school-based PT management for a child with PKS. Case Description: The child was a seven-year-old male diagnosed with PKS at 20 weeks’ gestation. The child was seen for PT five times a week in a specialized school setting for six weeks. The child presented with hypotonia, delayed gross motor skills, generalized weakness, and impaired posture. The child’s level of function was classified as Gross Motor Function Classification System Level V. The child required minimum assistance in sitting and maximum assistance for standing and ambulating. Interventions included: standing exercise, body-weight support treadmill training (BWSTT), overground gait training, and a standing program. Outcomes: The child’s standing time progressed from 16 seconds to 3:05 minutes, reciprocal stepping during BWSTT improved from 3 to 63 steps, and overground gait training progressed from 0 to 6 steps. Improvements in observational posture and strength were also seen. The standing program was not tolerated by the child, therefore removed from the plan of care (POC). Discussion: This six-week POC resulted in improved standing time, reciprocal steps, strength, and posture for a child with PKS. Further research is warranted on the benefits of these interventions to elicit improvements in gross motor function and declines in disability for children with PKS.
Espinosa, Cheryl R., "Functional School-Based Physical Therapy Management For A Child With Pallister-Killian Syndrome: A Case Report" (2019). Case Report Papers. 115.