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Research Article

Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy

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Pages 313-316 | Received 14 Dec 2011, Published online: 22 Jun 2012

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Gülsen Sırtbaş-Işık, Bilge Nur Yardımcı-Lokmanoğlu, Hasan Tolga Çelik & Ayşe Livanelioğlu. (2023) Early motor repertoire and developmental function outcomes in infants with West syndrome: a case series. Physiotherapy Theory and Practice 0:0, pages 1-9.
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Bilge Nur Yardımcı-Lokmanoğlu, Akmer Mutlu & Ayşe Livanelioğlu. (2021) General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report. Physical & Occupational Therapy In Pediatrics 41:3, pages 326-335.
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Peter B. Marschik, Marina Soloveichick, Christian Windpassinger & Christa Einspieler. (2015) General movements in genetic disorders: A first look into Cornelia de Lange syndrome. Developmental Neurorehabilitation 18:4, pages 280-282.
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Peter B. Marschik, Ralf Vollmann, Katrin D. Bartl-Pokorny, Vanessa A. Green, Larah van der Meer, Thomas Wolin & Christa Einspieler. (2014) Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome. Developmental Neurorehabilitation 17:4, pages 284-290.
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Articles from other publishers (16)

Maria Örtqvist, Peter B. Marschik, Moreno Toldo, Dajie Zhang, Viviana Fajardo‐Martinez, Karin Nielsen‐Saines, Ulrika Ådén & Christa Einspieler. (2023) Reliability of the Motor Optimality Score‐Revised: A study of infants at elevated likelihood for adverse neurological outcomes. Acta Paediatrica 112:6, pages 1259-1265.
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Cathryn Crowle, Michelle Jackman & Catherine Morgan. (2023) The General Movements Motor Optimality Score in High-Risk Infants: A Systematic Scoping Review. Pediatric Physical Therapy 35:1, pages 2-26.
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Jun Wang, Xiushu Shen, Hong Yang, Wei Shi, Xiaoyun Zhu, Herong Gao, Huanhuan Yin, Fanzhe Meng & Yun Wu. (2022) Inter- and intra-observer reliability of the “Assessment of Motor Repertoire- 3 to 5 Months” based on video recordings of infants with Prader-Willi syndrome. BMC Pediatrics 22:1.
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Christa Einspieler, Dajie Zhang & Peter B. Marschik. (2021) Die Bedeutung fötaler und neonataler Motorik für die kindliche Entwicklung und die Früherkennung von Entwicklungsstörungen. Kindheit und Entwicklung 30:1, pages 6-14.
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Einspieler, Bos, Krieber-Tomantschger, Alvarado, Barbosa, Bertoncelli, Burger, Chorna, Del Secco, DeRegnier, Hüning, Ko, Lucaccioni, Maeda, Marchi, Martín, Morgan, Mutlu, Nogolová, Pansy, Peyton, Pokorny, Prinsloo, Ricci, Saini, Scheuchenegger, Silva, Soloveichick, Spittle, Toldo, Utsch, van Zyl, Viñals, Wang, Yang, Yardımcı-Lokmanoğlu, Cioni, Ferrari, Guzzetta & Marschik. (2019) Cerebral Palsy: Early Markers of Clinical Phenotype and Functional Outcome. Journal of Clinical Medicine 8:10, pages 1616.
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Jasmin Pansy, Cornelia Barones, Berndt Urlesberger, Florian B. Pokorny, Katrin D. Bartl-Pokorny, Sarah Verheyen, Peter B. Marschik & Christa Einspieler. (2019) Early motor and pre-linguistic verbal development in Prader-Willi syndrome – A case report. Research in Developmental Disabilities 88, pages 16-21.
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Dafne Herrero, Christa Einspieler, Carolina Y. Panvequio Aizawa, Akmer Mutlu, Hong Yang, Alice Nogolová, Jasmin Pansy, Karin Nielsen-Saines & Peter B. Marschik. (2017) The motor repertoire in 3- to 5-month old infants with Down syndrome. Research in Developmental Disabilities 67, pages 1-8.
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Peter B . Marschik, Florian B. Pokorny, Robert Peharz, Dajie Zhang, Jonathan O’Muircheartaigh, Herbert Roeyers, Sven Bölte, Alicia J. Spittle, Berndt Urlesberger, Björn Schuller, Luise Poustka, Sally Ozonoff, Franz Pernkopf, Thomas Pock, Kristiina Tammimies, Christian Enzinger, Magdalena Krieber, Iris Tomantschger, Katrin D. Bartl-Pokorny, Jeff Sigafoos, Laura Roche, Gianluca Esposito, Markus Gugatschka, Karin Nielsen-Saines, Christa Einspieler & Walter E. Kaufmann. (2017) A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Current Neurology and Neuroscience Reports 17:5.
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Christa Einspieler, Robert Peharz & Peter B. Marschik. (2016) Fidgety movements – tiny in appearance, but huge in impact. Jornal de Pediatria (Versão em Português) 92:3, pages S64-S70.
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Christa Einspieler, Robert Peharz & Peter B. Marschik. (2016) Fidgety movements – tiny in appearance, but huge in impact. Jornal de Pediatria 92:3, pages S64-S70.
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Christa Einspieler, Arend F. Bos, Melissa E. Libertus & Peter B. Marschik. (2016) The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction. Frontiers in Psychology 7.
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Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery & Caroline Demily. (2015) Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. Orphanet Journal of Rare Diseases 10:1.
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A. Poisson, A. Nicolas, D. Sanlaville, P. Cochat, H. De Leersnyder, C. Rigard, P. Franco, V. des Portes, P. Edery & C. Demily. (2015) Le syndrome de Smith-Magenis, une association unique de troubles du comportement et du cycle veille/sommeil. Archives de Pédiatrie 22:6, pages 638-645.
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Christa Einspieler, Peter B. Marschik, Wanderley Domingues, Victor B. Talisa, Katrin D. Bartl-Pokorny, Thomas Wolin & Jeff Sigafoos. (2013) Monozygotic Twins with Rett Syndrome: Phenotyping the First Two Years of Life. Journal of Developmental and Physical Disabilities 26:2, pages 171-182.
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Christa Einspieler, Jeff Sigafoos, Katrin D. Bartl-Pokorny, Rebecca Landa, Peter B. Marschik & Sven Bölte. (2014) Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome. Research in Autism Spectrum Disorders 8:3, pages 286-291.
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Christa EinspielerPeter B Marschik, Arend F Bos, Fabrizio Ferrari, Giovanni Cioni & Heinz FR Prechtl. (2012) Early markers for cerebral palsy: insights from the assessment of general movements. Future Neurology 7:6, pages 709-717.
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