Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SHR Neuro Krebs Kardio Stoffw Microb Lipid

Rett Disorder: The Pre-Regression Period

Abstract
The main focus of this project is on the motor, behavioural and communicative development in girls with Rett disorder from the age of 6 months to the onset of regression (12 to 18 months). The new results will be discussed in the light of continuity or discontinuity with the findings during the first 6 months of life. In addition, the results of the pre-regression period will be assessed in view of a possible association between genotypes and the severity of phenotypes.
Projektleitung:
Einspieler Christa
Laufzeit:
01.04.2007-31.03.2012
Programm:
FWF Einzelprojekt
Art der Forschung
Grundlagenforschung
Mitarbeiter*innen
Einspieler C., Projektleiter*in
Marschik P., Projektmitarbeiter*in
Beteiligte MUG-Organisationseinheiten
Lehrstuhl für Physiologie und Pathophysiologie
Gefördert durch
FWF, Fonds zur Förderung der Wissenschaftlichen Forschung, Wien, Österreich

FWF-Project-Link: P19581
Publizierte Projektergebnisse
> Is it possible to predict the infant's neurodevelo... Early Hum Dev. 2012; 88(1):39-43
> Early speech-language development in females with ... Dev Med Child Neurol. 2012; 54(5):451-456
> General Movements in Infants with Genetic Disorder... Workshop on the Assessment of General Movements. Part I.; MARCH 18-22, 2012; Haifa, ISRAEL. 2012.
> Communicative and Motor Behaviour in Genetic Disor... Training Course on the Assessment of General Movements. Part II. ; Feb 3-8, 2011; Tel Aviv, ISRAEL. 2011.
> Motor and Communicative Behaviour in Infants with ... Workshop on the Assessment of General Movements in Young Infants ; Jan 9-13, 2011; Prague, CZECH REPUBLIC. 2011.
> Movements and postures of infants aged 3 to 5month... Early Hum Dev. 2011; 87(3): 231-237.
> Early Identification of Severe and Mild Neurologic... Workshop on the Assessment of General Movements; FEB 24-27, 2011; Ankara, TURKEY. 2011.
> Der Zusammenhang von pragmatischen und narrativen ... Grazer Linguistische Studien. 2011; 75: 91-107.
> Rett syndrome: revised diagnostic criteria and nom... Ann Neurol. 2010; 68(6):944-950
> Relabelling the preserved speech variant of Rett s... Dev Med Child Neurol. 2010; 52(2): 218-218.
> Gen und System: typische und atypische Betrachtung... ISES VI 6. Interdisziplinäre Tagung über Sprachentwicklungsstörungen. 2010; -ISES VI; MAR 11-13; Rostock, Germany.
> Pragmatische und narrative Kompetenzen eines Mädch... ISES VI, Interdisziplinäre Tagung über Sprachentwicklungsstörungen. 2010; -ISES VI; MAR 11-13; Rostock, Germany.
> Fidgety movements: a window into the developing br... Workshop on Spontaneous Movements; JUN 30-JUL 2, 2010; London, UK. 2010.
> The neurophysiology of spontaneous movements durin... Workshop on Spontaneous Movements ; JUN 30-JUL 2, 2010; London, UK. 2010.
> Rett Syndrome: Types of MECP2 mutations in relatio... ESF Research Conference: Gene Expression to Neurobiology and Behaviour: Human Brain Development and Development and Developmental Disorders2009; -Gene Expression to Neurobiology and Behaviour: Human Brain Development and Development and Developmental Disorders; SEP 20-25, 2009; Sant Feliu de Guixols, Spain.
> Girls with R168X or R255X mutation: the first ten ... European Working Group on Rett Syndrome, Stresa 2009, Abstracts2009; -European Working Group on Rett Syndrome; SEP 17-19, 2009; Stresa, ITALY.
> Entwicklungsauffälligkeiten bei transienten und ko... Kinderärztliche Praxis. 2009; (80): 337-342.
> Prechtl's assessment of fetal movements.... Book of Abstracts of the XXXI. Alpe Adria Meeting of Perinatal Medicine and XXIII. Alpe Adria Perinatal Congress.2009; 26--XXXI. Alpe Adria Meeting of Perinatal Medicine and XXIII. Alpe Adria Perinatal Congress.; OCT 8-10, 2009; Leoben, AUSTRIA.
> Das Bewegungsrepertoire des Früh- und Neugeborenen... Es ist nie zu früh!? Frühförderung im Säuglingsalter.; OKT 29-30, 2009; Graz, AUSTRIA. 2009.
> A possible association between genotypes and early... Neuropediatr2009; 40: 292--The 35th Annual Meeting of the Society of Neuropediatrics; APR 23-26, 2009; Graz; AUSTRIA.
> Aspekte funktioneller Hirnentwicklung bei Rett Syn... EWS, Akademie für Medizin und Therapie, LIN.FOR, Logopädisches Institut für Forschung: Therapieforschung bei Sprachentwicklungsstörungen2009; 16-16.-ROSY II; MAY 9-10, 2009; Rostock, GERMANY.
> Case report: Retracing atypical development: a pre... J Autism Dev Disord. 2009; 39(6): 958-961.
> Is the type of MECP2 mutation related to the onset... 1st European Congress on Rett Syndrome. From Research to Treatment: New Perspectives in Rett Syndrome. 2009; -1st European Congress on Rett Syndrome; JUN 5-7; Milano, ITALY.
> Fidgety General Movements in Infants with Acquired... Workshop on the Qualitative Assessment of Movements in Neonates and Young Infants.; FEB 2-5, 2009; Warsaw, POLAND. 2009.
> The preserved speech variant of Rett syndrome: spe... Neuropediatr 2009; 40: 295--The 35th Annual Meeting of the Society of Neuropediatrics; APR 23-26, 2009; Graz, AUSTRIA.
> A possible association between genotypes and early... INT J DEV NEUROSCI. 2008; 26(8):867-867.-17th Biennial Meeting of the International-Society-for-Developmental-Neuroscience; JUN 01-05, 2008; Asilomar, CA.
> Specific atypicality in preserved speech variant?... INT J DEV NEUROSCI. 2008; 26(8):841-841.-17th Biennial Meeting of the International-Society-for-Developmental-Neuroscience; JUN 01-05, 2008; Asilomar, CA.
> Funktionelle Hirnentwicklung... Workshop Forschungsfeld Neurowissenschaften; NOV 25, 2008; Graz, AUSTRIA. 2008.
> Atypical communicative development in Rett syndrom... Abstract Book. The 6th World Rett Syndrome Congress. A Hand Link from Gene to Care. 2008; 95--The 6th World Rett Syndrome Congress.; OCT 10-13, 2008; Paris, France.
> Is there an early specific developmental trajector... Abstract Book. The 6th World Rett Congress. A Hand Link from Gene to Care.2008; 69--The 6th World Rett Congress; OCT 10-13, 2008; Paris, FRANCE.
> A Possible Association Between Genotypes and Early... Trilateral Symposium of Physiology. In Honor of Helmut Hinghofer-Szalkay2008; -Trilateral Symposium of Physiology; SEP 18-19, 2008; Graz, AUSTRIA.
> Clinical Implications of the Assessment of Spontan... Workshop on the Assessment of General Movements and Selected Topics in Paediatric Neurology.; OCT 29 - NOV 2, 2008; Shanghai, CHINA. 2008.
> Was erzählen uns frühkindliche Bewegungen?... Zusammenfassung. Forschung für die Praxis V. 2008; 2--Aktuelles aus der Säuglingsforschung.; NOV 14, 2008; München, GERMANY.
> Human motor behavior - Prenatal origin and early p... Z PSYCHOL. 2008; 216(3): 147-153.
> Communicative abilities in girls with Rett disorde... The Seminar of Child Development; APR 12, 2008; Isfahan, Iran. 2008.
> Acquired and genetic brain lesions: the predictive... Workshop on the Assessment of General Movements; APR 13-17, 2008; Tehran, Iran. 2008.
> Spontaneus General Movements.... The 7th International Congress on Early Brain Damage; APR 23-26, 2008; Bled, SLOVENIA. 2008.
> Spontaneous movements in acquired and genetic brai... General Movement Workshop at the Department of Pediatrics within the John A. Burns School of Medicine of the University of Hawaii ; FEB 25-28, 2008; Honolulu, HAWAII, USA . 2008.
> Early markers for unilateral spastic cerebral pals... Nat Clin Pract Neurol. 2008; 4(4):186-187
> Communicative development of girls with classical ... January Meeting of the Department for Early Language Development, Croatian Philological Society.; JAN 24, 2008; Zagreb, Croatia. 2008.
> Specific atypicality in preserved speech variant?... Abstract Book, ISDN 2008. Making and Breaking Neural Circuits: Mechanisms in Normal and Disordered Neural Development2008; P102--17th Biennial Meeting of the International Society for Developmental Neuroscience, ISDN 2008; JUN 1-4, 2008; Asilomar, CA, USA.
> Is there an early specific developmental trajector... Dev Med Child Neurol2008; 50(S114):18--20th Annual Meeting of the European Academy of Childhood Disability (EACD); JUN 5-7, 2008; Zagreb, Croatia.
> Motor performance in infants with acquired versus ... Workshop on General Movements; Yonsei University; MAY 28-31, 2008; Seoul, Korea. 2008.
> Early signs in Rett disorder: Does behavioural obs... http://www.escap-net.org/bridgingthegaps/index.php?option=com_jcalpro&Itemid=203&extmode=view&extid=1882007; -13th International Congress of the European Society for Child and Adolescent Psychiatry. Bridging the Gaps. ; AUG 25-29, 2007; Florence, ITALY.
> Spontaneous movements in infants with acquired and... The Neurological Conference of the Shanghai Paediatric Society; FEB 6, 2007; Shanghai, CHINA. 2007.
> Rett's disorder: The first six weeks of life.... The 6th Graz Symposium on Developmental Neurology. Early Developmental Transformations. Abstracts. 2007; 34-34.-The 6th Graz Symposium on Developmental Neurology; May 3-5; Graz, AUSTRIA.
> General movements in acquired and genetic brain le... International Symposium of Child Neurology; JUN 2, 2007 ; Ljubljana, SLOVENIA. 2007.
> MeCP2 and early signs of Rett Syndrome... Zentrumsforum, Zentrum für Physiologische Medizin, Medizinische Universität Graz; DEZ 2007; Graz, AUSTRIA. 2007.
> Erworbene sowie genetisch bedingte Hirnschädigunge... Fachtagung-Aktuelle Entwicklungen in der Sozialpädiatrie; OKT 27, 2007; Dortmund, GERMANY. 2007.
> The impact of acquired and genetic brain lesions o... Annual Meeting of the Danish Neuropaediatric Society.; NOV 10-11, 2006; Middelfart, DENMARK. 2006.
> An early specific developmental trajectory of Rett... http://www.gcbcenter.kennedykrieger.org/agenda.jsp 2006; -Workshop: Clinical Trials in Rett Syndrome; MAY 29-31, 2006; San Francisco, USA.
> Das erste Lebenshalbjahr von Mädchen mit Rett-Synd... Informationsblatt der Wissenschaftlichen Gesellschaft der Ärzte in der Steiermark2006; 13: 1-1.-Wissenschaftliche Gesellschaft der Ärzte in der Steiermark; APR 6, 2006; Graz, AUSTRIA.
> The Rett syndrome complex: communicative abilities... Grazer Linguistische Studien. 2006; (65): 41-51.
> Rett syndrome: the first six months of life... The 5th Graz Symposium on Developmental Neurology. Abstracts2005; 46--The 5th Graz Symposium on Developmental Neurology; MAY 19-21, 2005; Graz, AUSTRIA.
> Is the early development of females with Rett diso... Developmental Medicine and Child Neurology2005; 47: 20-20.-The 17th Annual European Academy of Childhood Disabilty Conference.; NOV 19-22, 2005; Monte Carlo, MONACO.
> Early signs in Rett disorder - can we make an earl... Rett Disorder: Day Course for Professionals.; MAR 17, 2005; Edinburgh, UK. 2005.
> Is the early development of girls with Rett disord... PEDIAT RES. 2005; 57(5 Pt 1): 696-700.
> Abnormal general movements in girls with Rett diso... BRAIN DEVELOP. 2005; 27 Suppl 1: S8-S13.
> Signs of Rett disorder in the first six months of ... What we all need to know about brain development. Abstracts. 2003; 51--The 4th Graz International Symposium on Developmental Neurology ; MAY 22-23, 2003; Graz, AUSTRIA.
> Observations of movements: Early signs of Rett syn... Developmental Neurology; SEP 29-30, 2003; Modena, ITALY. 2003.
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