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 Ereğli Private Gökkuşağı 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.

Keywords

• Case Report
• Craniosynostosis
• Multiple Anomalies
• Physical Therapy and Rehabilitation
• Shprintzen-Goldberg Syndrome

SHPRİNTZEN-GOLDBERG SENDROMUNDA ÇEVRESEL ZENGİNLEŞTİRME VE NÖROGELİŞİMSEL TEDAVİ SONUÇLARI: BİR OLGU SUNUMU

Öz

Amaç: Bu olgu sunumu, Shprintzen-Goldberg sendromlu (SGS) bir çocukta fizyoterapi programının etkinliğini araştırmayı amaçlamaktadır. Yöntem: Tıbbi genetik uzmanı tarafından SGS tanısı konmuş 9 aylık bir olgu çalışmaya dahil edildi. Olguda konjenital pes varus, kraniyosinostoz ve kraniyofasiyal deformiteler, mental, sosyal, emosyonel ve motor retardasyon, regülasyon ve duyu hiperreaktivite semptomları gözlendi. Haftada iki gün, 12 ay boyunca çevresel zenginleştirme ve Nörogelişimsel Tedavi (NGT) yaklaşımlarını içeren fizyoterapi programı, Karadeniz Ereğli Özel Gökkuşağı Özel Eğitim ve Rehabilitasyon Merkezi’nde fizyoterapist tarafından uygulandı. Kaba motor fonksiyon ve özürlülük düzeyi sırasıyla Kaba Motor Fonksiyon Ölçümü-88 ve Kaba Motor Fonksiyon Sınıflandırma Sistemi ile değerlendirildi. Fizyoterapi hedeflerinin başarısı, Hedefe Ulaşma Ölçeklendirmesi ile belirlendi. Sonuçlar: On iki aylık takipte, Kaba Motor Fonksiyon Ölçümü-88 puanı %5,52'den %45,47'ye, Hedefe Ulaşma Ölçeklendirme toplam puanları -6'dan +6 puana yükseldi. Tartışma: Bu olgu sunumu, literatür taramasına göre SGS'li bir çocukta 12 aylık fizyoterapi programının etkinliği hakkında yapılan ilk çalışmadır. Hedefe yönelik NGT yaklaşımlarını içeren fizyoterapinin ciddi motor etkilenim ile karakterize SGS gibi nadir görülen olgularda, motor gelişimi destekleyebileceğini düşünüyoruz.

Anahtar Kelimeler

• Çoklu Anomaliler
• Fizik Tedavi ve Rehabilitasyon
• Kraniyosinostoz
• Olgu Sunumu
• Shprintzen-Goldberg Sendromu

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