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

Kaynakça

1. Bari NA, Nawaz N, Bano I. Shprintzen-Goldberg Syndrome: A Rare Disorder. J Coll Physicians Surg Pak. 2019;29(6):S41-S42.
2. Redei GP. Shprintzen-Goldberg Syndrome. In: Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 3rd edition. Springer Netherlands; 2008. p.1805–1805.
3. Yalcintepe S, Yuregir O, Bozdogan S, Aslan H. Shprintzen-Goldberg Syndrome: Case Report/Shprintzen-Goldberg Sendromu: Olgu Sunumu. Meandros Med Dent J. 2018; 19(2):175-7.
4. Raseena K, Kumar T, Jeeva P, Ramesh R. Shprintzen–Goldberg syndrome (SGS): an extremely rare disorder. IOSR J Dent Med Sci. 2020;19(1):55-8.
5. El Ö, Baydar M, Berk H, Peker Ö, Koşay C, Demiral Y. Interobserver reliability of the Turkish version of the expanded and revised gross motor function classification system. Disabil Rehabil. 2012;34(12):1030-3.
6. Alotaibi M, Long T, Kennedy E, Bavishi S. The efficacy of GMFM-88 and GMFM-66 to detect changes in gross motor function in children with cerebral palsy (CP): a literature review. Disabil Rehabil. 2014;36(8):617–27.
7. Steenbeek D, Ketelaar M, Galama K, Gorter J. Goal Attainment Scaling in paediatric rehabilitation: a report on the clinical training of an interdisciplinary team. Child Care Health Dev. 2008;34(4):521-9.
8. Zanon MA, Pacheco RL, Latorraca C de OC, Martimbianco ALC, Pachito DV, Riera R. Neurodevelopmental Treatment (Bobath) for Children With Cerebral Palsy: A Systematic Review. J Child Neurol 2019;34(11):679-86.

9. Farjoun N, Mayston M, Florencio L, Fernandez-De-Las-Penas C, Palacios-Cena D. Essence of the Bobath concept in the treatment of children with cerebral palsy. A qualitative study of the experience of Spanish therapists. Physiother Theory Pract. 2022;38(1):151-63.
10. Furtado S, Sampaio R, Kirkwood R, Vaz DV, Mancini M. Moderating effect of the environment in the relationship between mobility and school participation in children and adolescents with cerebral palsy. Braz J Phys Ther. 2015;19(4):311-9.
11. Coleman K, Novak M. Environmental Enrichment in the 21st Century. ILAR J. 2017;58(2):295-307.
12. Bovend’Eerdt T, Botell R, Wade DT. Writing SMART rehabilitation goals and achieving goal attainment scaling: a practical guide. Clin Rehabil. 2009;23(4):352-61.
13. Krasny-Pacini A, Hiebel J, Pauly F, Godon S, Chevignard M. Goal attainment scaling in rehabilitation: a literature-based update. Ann Phys Rehabil Med 2013;56(3):212-30.
14. Labaf S, Shamsoddini A, Hollisaz M, Sobhani V, Shakibaee A. Effects of neurodevelopmental therapy on gross motor function in children with cerebral palsy. Iran J Child Neurol. 2015; 9(1):36-41.
15. Shamsoddini A. Comparison between the effect of neurodevelopmental treatment and sensory integration therapy on gross motor function in children with cerebral palsy. Iran J Child Neurol. 2010;4(1):31-8.
16. Malak R, Kotwicka M, Krawczyk-Wasielewska A, Mojs E, Samborski W. Motor skills, cognitive development and balance functions of children with Down syndrome. Ann Agric Environ Med. 2013; 20(4): 803-6.
17. Buckon C, Sienko S, Bagley A, Sison-Williamson M, Fowler E, Staudt L, et al. Can quantitative muscle strength and functional motor ability differentiate the influence of age and corticosteroids in ambulatory boys with Duchenne muscular. PLoS Curr. 2016;8.
18. Schaaf R, Dumont R, Arbesman M, May-Benson T. Efficacy of Occupational Therapy Using Ayres Sensory Integration®: A Systematic Review. Am J Occup Ther. 2018;72(1):7201190010p1–7201190010p10.