Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.14365/4913
Title: The Results of Environmental Enrichment and Neurodevelopmental Treatment in Shprintzen-Goldberg Syndrome: a Case Report
Authors: Yakıt Yeşilyurt, Seda
Taş, S.A.
Keywords: Case Report
Craniosynostosis
Multiple Anomalies
Physical Therapy and Rehabilitation
Shprintzen-Goldberg Syndrome
Article
birth weight
brain stem response
case report
clinical article
conduction deafness
connective tissue disease
craniofacial malformation
craniofacial synostosis
cryptorchism
environmental enrichment
female
follow up
gene structure
gestational age
goal attainment
Gross Motor Function Classification System
home environment
hospital admission
human
infant
intensive care
male
medical geneticist
mental deficiency
motor performance
motor retardation
pes varus
physiotherapy
prone position
Shprintzen Goldberg syndrome
sitting
supine position
thorax deformity
umbilical hernia
varus deformity
Publisher: Turkish Physiotherapy Association
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.
URI: https://doi.org/10.21653/tjpr.1098402
https://hdl.handle.net/20.500.14365/4913
ISSN: 2651-4451
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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