The Results of Environmental Enrichment and Neurodevelopmental Treatment in Shprintzen-Goldberg Syndrome: A Case Report

Abstract

Purpose: This case report aimed to investigate the efficacy of the physiotherapy program in a child with Shprintzen-Goldberg syndrome (SGS). Methods: A 9-month-old case diagnosed with SGS by a medical geneticist was the focus of the study. Congenital pes varus, craniosynostosis and craniofacial deformities, mental, social, emotional and motor retardation, regulation and sensory hyperreactivity symptoms were observed in the case. The physiotherapy program consists of environmental enrichment and Neurodevelopmental Treatment (NDT) approaches twice a week for 12 months and was conducted by a physiotherapist at Karadeniz Eregli Private Gökkuşagi Special Education and Rehabilitation Center. Gross motor function and disability level were assessed using Gross Motor Function Measurement-88 (GMFM-88) and Gross Motor Function Classification System (GMFCS), respectively. The success of physiotherapy goals was determined by Goal Attainment Scaling (GAS). Results: At 12 months follow-up, GMFM-88 score increased from 5.52% to 45.47% and GAS total scores increased from -6 to +6 point. Conclusions: The literature review shows that no previous study assessed the effectiveness of 12 months physiotherapy program in a child with SGS. We consider that physiotherapy including targeted NDT approaches can support motor development in rare cases, such as SGS characterized by severe motor involvement. © 2023 Turkish Physiotherapy Association. All rights reserved.