THE RESULTS OF ENVIRONMENTAL ENRICHMENT AND NEURODEVELOPMENTAL TREATMENT IN SHPRINTZEN-GOLDBERG SYNDROME: A CASE REPORT

Purpose: This case report aimed to investigate the efficacy of the physiotherapy program in a child with Shprintzen-Goldberg syndrome insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(NDT); approaches twice a week for 12 months and was conducted by a physiotherapist at Karadeniz Ereğli Private Gökkuşağı Special Education and Rehabilitation Center. Gross motor function and disability level were assessed using Gross Motor Function Measurement-88 insert ignore into journalissuearticles values(GMFM-88); and Gross Motor Function Classification System insert ignore into journalissuearticles values(GMFCS);, respectively. The success of physiotherapy goals was determined by Goal Attainment Scaling insert ignore into journalissuearticles values(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.