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Medical University of Graz

Genetic Disorders

Fragile X Syndrome

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common genetic cause of autism spectrum disorder. FXS is associated with a wide range of physical, neurological and neurobehavioural abnormalities (fine and gross motor performance, speech-language and socio-communicative functions). As FXS has, in contrast to other genetic disorders like Down syndrome, no apparent dysmorphic features peri- or even postnatally, these functional abnormalities must reach a clinical “threshold” to justify genetic testing. By identifying and delineating the early signs of deviation from typical development in individuals with FXS our research has as its long term aim to facilitate timely genetic diagnosis of FXS, which will enable affected individuals to access early intervention services and alert their families to timely genetic counselling.

2018

** Roche, L; Zhang, D; Bartl-Pokorny, KD; Pokorny, FB; Schuller, BW, Esposito, G; Bölte, S; Roeyers, H; Poustka, L; Gugatschka, M; Waddington, H; Vollmann, R; Einspieler, C; Marschik, PB Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies Using Retrospective Video Analysis. Adv Neurodev Disord. 2018; 1-13.

** Zhang, D; Poustka, L; Marschik, PB; Einspieler, C The onset of hand stereotypies in fragile X syndrome. Dev Med Child Neurol. 2018; 60(10): 1060-1061.

** Zhang, D; Roche, L; Bartl-Pokorny, KD; Krieber, M; McLay, L; Bölte, S; Poustka, L; Sigafoos, J; Gugatschka, M; Einspieler, C; Marschik, PB Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper. Res Dev Disabil. 2018; 82(6): 95-108.

2017

** Jonsson, U; Alaie, I; Löfgren Wilteus, A; Zander, E; Marschik, PB; Coghill, D; Bölte, S Annual Research Review: Quality of life and childhood mental and behavioural disorders - a critical review of the research. J Child Psychol Psychiatry. 2017; 58(4): 439-469.

** Marschik, PB; Pokorny, FB; Peharz, R; Zhang, D; O'Muircheartaigh, J; Roeyers, H; Bölte, S; Spittle, AJ; Urlesberger, B; Schuller, B; Poustka, L; Ozonoff, S; Pernkopf, F; Pock, T; Tammimies, K; Enzinger, C; Krieber, M; Tomantschger, I; Bartl-Pokorny, KD; Sigafoos, J; Roche, L; Esposito, G; Gugatschka, M; Nielsen-Saines, K; Einspieler, C; Kaufmann, WE; BEE-PRI Study Group A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep. 2017; 17(5): 43.

** Marschik, PB; Zhang, DJ; Esposito, G; Bolte, S; Einspieler, C; Sigafoos, J Same or different: Common pathways of behavioral biomarkers in infants and children with neurodevelopmental disorders? BEHAV BRAIN SCI. 2017; 40: e64.

** Zhang, D; Kaufmann, WE; Sigafoos, J; Bartl-Pokorny, KD; Krieber, M; Marschik, PB; Einspieler, C Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome J INTELLECT DEV DIS. 2017; 42(2): 114-122.

2016

** Marschik, PB; Einspieler, C; Sigafoos, J; Enzinger, C; Bölte, S The interdisciplinary quest for behavioral biomarkers pinpointing developmental disorders. Dev Neurorehabil. 2016; 19(2):73-74.

Pokorny, FB; Peharz, R; Roth, W; Zöhrer, M; Pernkopf, F; Marschik, PB, Schuller BW Manually versus automated: The challenging routine of infant vocalisation segmentation in home videos to study neuro(mal)development. In: Morgan, N; editors(s). Proceedings Interspeech 2016. San Francisco: p. 2997 - 3001. 2016.

2014

** Marschik, PB; Bartl-Pokorny, KD; Sigafoos, J; Urlesberger, L; Pokorny, F; Didden, R; Einspieler, C; Kaufmann, WE Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome. Res Dev Disabil. 2014; 35: 597-602.

2013

** Hinton, R; Budimirovic, DB; Marschik, PB; Talisa, VB; Einspieler, C; Gipson, T; Johnston, MV Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders. Dev Neurorehabil. 2013; 16:58-66.

Rett Syndrome

Rett syndrome is a disease of the nervous system characterised by developmental reversals in areas such as language and motor skills.

The main focus of our project is on the motor, behavioural and communicative development in girls with Rett syndrome from birth to the onset of regression (12 to 18 months). In addition, we investigate the results of the pre-regression period in view of a possible association between genotypes and the severity of phenotypes.

2019

** Sigafoos, J; O'Reilly, MF; Ledbetter-Cho, K; Lim, N; Lancioni, GE; Marschik, PB Addressing sequelae of developmental regression associated with developmental disabilities: A systematic review of behavioral and educational intervention studies. Neurosci Biobehav Rev. 2019; 96: 56-71.

2018

** Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach. Dev Neurorehabil. 2018; 21(1): 68-72.

** Pokorny, FB; Bartl-Pokorny, KD; Einspieler, C; Zhang, D; Vollmann, R; Bölte, S; Gugatschka, M; Schuller, BW; Marschik, PB Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome. Res Dev Disabil. 2018; 82(6): 109-119.

** Roche, L; Zhang, D; Bartl-Pokorny, KD; Pokorny, FB; Schuller, BW, Esposito, G; Bölte, S; Roeyers, H; Poustka, L; Gugatschka, M; Waddington, H; Vollmann, R; Einspieler, C; Marschik, PB Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies Using Retrospective Video Analysis. Adv Neurodev Disord. 2018; 1-13.

** Sigafoos, J; O'Reilly, MF; Ledbetter-Cho, K; Lim, N; Lancioni, GE; Marschik, PB Addressing sequelae of developmental regression associated with developmental disabilities: A systematic review of behavioral and educational intervention studies. Neurosci Biobehav Rev. 2018;

** Zhang, D; Roche, L; Bartl-Pokorny, KD; Krieber, M; McLay, L; Bölte, S; Poustka, L; Sigafoos, J; Gugatschka, M; Einspieler, C; Marschik, PB Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper. Res Dev Disabil. 2018; 82(6): 95-108.

2017

** Jonsson, U; Alaie, I; Löfgren Wilteus, A; Zander, E; Marschik, PB; Coghill, D; Bölte, S Annual Research Review: Quality of life and childhood mental and behavioural disorders - a critical review of the research. J Child Psychol Psychiatry. 2017; 58(4): 439-469. 

** Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach. Dev Neurorehabil. 2017; 1-5.

** Marschik, PB; Pokorny, FB; Peharz, R; Zhang, D; O'Muircheartaigh, J; Roeyers, H; Bölte, S; Spittle, AJ; Urlesberger, B; Schuller, B; Poustka, L; Ozonoff, S; Pernkopf, F; Pock, T; Tammimies, K; Enzinger, C; Krieber, M; Tomantschger, I; Bartl-Pokorny, KD; Sigafoos, J; Roche, L; Esposito, G; Gugatschka, M; Nielsen-Saines, K; Einspieler, C; Kaufmann, WE; BEE-PRI Study Group A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep. 2017; 17(5): 43.

** Marschik, PB; Zhang, DJ; Esposito, G; Bolte, S; Einspieler, C; Sigafoos, J Same or different: Common pathways of behavioral biomarkers in infants and children with neurodevelopmental disorders? BEHAV BRAIN SCI. 2017; 40: e64.

** O'Leary, HM; Marschik, PB; Khwaja, OS; Ho, E; Barnes, KV; Clarkson, TW; Bruck, NM; Kaufmann, WE Detecting autonomic response to pain in Rett syndrome. Dev Neurorehabil. 2017; 20(2):108-114.

Townend, GS; Kaufmann, WE; Marschik, PB; Fabio, RA; Sigafoos, J; Curfs, LMG Cognition, Communication and Behavior in Individuals with Rett Syndrome. In: Kaufmann, WE; Percy, AK; Leonard, H; Naidu, S. editors(s). Rett Syndrome - Clinics in Developmental Medicine . London: Mac Keith Press; p. 50-61. 2017.

2016

** Einspieler, C; Freilinger, M; Marschik, PB Behavioural biomarkers of typical Rett syndrome: moving towards early identification. Wien Med Wochenschr. 2016; 166(11-12):333-337.

** Freilinger, M; Marschik, PB 50 years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist. Wien Med Wochenschr. 2016; 166(11-12): 321-321.

** Marschik, PB; Einspieler, C; Sigafoos, J; Enzinger, C; Bölte, S The interdisciplinary quest for behavioral biomarkers pinpointing developmental disorders. Dev Neurorehabil. 2016; 19(2):73-74.

Pokorny, FB; Marschik, PB; Einspieler, C; Schuller, BW Does she speak RTT? Towards an earlier identification of Rett syndrome through intelligent pre-linguistic vocalisation analysis. In: Morgan, N; editors(s). Proceedings Interspeech 2016. San Francisco: p. 1953 - 1957. 2016

Pokorny, FB; Peharz, R; Roth, W; Zöhrer, M; Pernkopf, F; Marschik, PB, Schuller BW Manually versus automated: The challenging routine of infant vocalisation segmentation in home videos to study neuro(mal)development. In: Morgan, N; editors(s). Proceedings Interspeech 2016. San Francisco: p. 2997 - 3001. 2016

** Townend, GS; Marschik, PB; Smeets, E; van de Berg, R; van den Berg, M; Curfs, LM Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. J Dev Phys Disabil. 2016; 28: 101-112.

2015

** Townend, GS; Bartl-Pokorny, KD; Sigafoos, J; Curfs, LM; Bölte, S; Poustka, L; Einspieler, C; Marschik, PB Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life. Res Dev Disabil. 2015; 43-44: 80-86.

2014

** Einspieler, C; Marschik, PB; Domingues, W; Talisa, VB; Bartl-Pokorny, KD; Wolin, T; Sigafoos, J Monozygotic Twins with Rett Syndrome: Phenotyping the First Two Years of Life J DEV PHYS DISABIL. 2014; 26(2): 171-182.

** Einspieler, C; Sigafoos, J; Bartl-Pokorny, KD; Landa, R; Marschik, PB; Bolte, S Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome. RES AUTISM SPECTR DISORD. 2014; 8(3): 286-291.

** Marschik, PB The pivotal role of parents in documenting early development. N Am J Med Sci. 2014; 6(1):48-49. [OPEN ACCESS]

** Marschik, PB; Bartl-Pokorny, KD; Tager-Flusberg, H; Kaufmann, WE; Pokorny, F; Grossmann, T; Windpassinger, C; Petek, E; Einspieler, C Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development. Dev Neurorehabil. 2014; 17(1):34-38.

** Marschik, PB; Bartl-Pokorny, KD; Pokorny, F; Einspieler, C En route to disentangle early behavioral abnormalities as early markers for maldevelopment: learning from Rett syndrome. J APPL RES INTELLECT DISABIL. 2014; 27(4):309-309.

** Marschik, PB; Vollmann, R; Bartl-Pokorny, KD; Green, VA; van der Meer, L; Wolin, T; Einspieler, C Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome. Dev Neurorehabil. 2014; 17(4):284-290.

2013

** Bartl-Pokorny, KD; Marschik, PB; Sigafoos, J; Tager-Flusberg, H; Kaufmann, WE; Grossmann, T; Einspieler, C Early socio-communicative forms and functions in typical Rett syndrome. Res Dev Disabil. 2013; 34(10):3133-3138.

** Marschik, PB; Kaufmann, WE; Sigafoos, J; Wolin, T; Zhang, D; Bartl-Pokorny, KD; Pini, G; Zappella, M; Tager-Flusberg, H; Einspieler, C; Johnston, MV Changing the perspective on early development of Rett syndrome. Res Dev Disabil. 2013; 34(4):1236-1239. [OPEN ACCESS]

2012

** Marschik, PB; Einspieler, C; Sigafoos, J Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception. Res Dev Disabil. 2012; 33(2):461-466.

** Marschik, PB; Kaufmann, WE; Einspieler, C; Bartl-Pokorny, KD; Wolin, T; Pini, G; Budimirovic, DB; Zappella, M; Sigafoos, J Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Res Dev Disabil. 2012; 33(6):1749-1756. [OPEN ACCESS]

** Marschik, PB; Pini, G; Bartl-Pokorny, KD; Duckworth, M; Gugatschka, M; Vollmann, R; Zappella, M; Einspieler, C Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. Dev Med Child Neurol. 2012; 54(5):451-456.

** Marschik, PB; Sigafoos, J; Kaufmann, WE; Wolin, T; Talisa, VB; Bartl-Pokorny, KD; Budimirovic, DB; Vollmann, R; Einspieler, C Peculiarities in the gestural repertoire: an early marker for Rett syndrome? Res Dev Disabil. 2012; 33(6):1715-1721. [OPEN ACCESS]

2011

** Marschik, PB; Einspieler, C Methodological note: Video analysis of the early development of Rett syndrome-one method for many disciplines. Dev Neurorehabil. 2011; 14(6): 355-357.

** Marschik, PB; Lanator, I; Freilinger, M; Prechtl, HFR; Einspieler, C Early Signs and Later Neurophysiological Correlates of Rett Syndrome KLIN NEUROPHYSIOL. 2011; 42(1): 22-26.

2010

** Marschik, PB; Einspieler, C; Prechtl, HF; Oberle, A; Laccone, F Relabelling the preserved speech variant of Rett syndrome?. Dev Med Child Neurol. 2010; 52(2):218-218.

** Neul, JL; Kaufmann, WE; Glaze, DG; Christodoulou, J; Clarke, AJ; Bahi-Buisson, N; Leonard, H; Bailey, ME; Schanen, NC; Zappella, M; Renieri, A; Huppke, P; Percy, AK; RettSearch Consortium Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68(6):944-950 [OPEN ACCESS]

2009

** Marschik, PB; Einspieler, C; Oberle, A; Laccone, F; Prechtl, HF Case report: Retracing atypical development: a preserved speech variant of Rett syndrome. J Autism Dev Disord. 2009; 39(6): 958-961.

2005

** Einspieler, C; Kerr, AM; Prechtl, HF Abnormal general movements in girls with Rett disorder: the first four months of life. Brain Dev. 2005; 27 Suppl 1:S8-S13.

** Einspieler, C; Kerr, AM; Prechtl, HF Is the early development of girls with Rett disorder really normal? Pediatr Res. 2005; 57(5 Pt 1):696-700.

Other Genetic Disorders

2019

** Sigafoos, J; O'Reilly, MF; Ledbetter-Cho, K; Lim, N; Lancioni, GE; Marschik, PB Addressing sequelae of developmental regression associated with developmental disabilities: A systematic review of behavioral and educational intervention studies. Neurosci Biobehav Rev. 2019; 96: 56-71.

2017

** Jonsson, U; Alaie, I; Löfgren Wilteus, A; Zander, E; Marschik, PB; Coghill, D; Bölte, S Annual Research Review: Quality of life and childhood mental and behavioural disorders - a critical review of the research. J Child Psychol Psychiatry. 2017; 58(4): 439-469.

** Marschik, PB; Pokorny, FB; Peharz, R; Zhang, D; O'Muircheartaigh, J; Roeyers, H; Bölte, S; Spittle, AJ; Urlesberger, B; Schuller, B; Poustka, L; Ozonoff, S; Pernkopf, F; Pock, T; Tammimies, K; Enzinger, C; Krieber, M; Tomantschger, I; Bartl-Pokorny, KD; Sigafoos, J; Roche, L; Esposito, G; Gugatschka, M; Nielsen-Saines, K; Einspieler, C; Kaufmann, WE; BEE-PRI Study Group A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep. 2017; 17(5): 43.

** Marschik, PB; Zhang, DJ; Esposito, G; Bolte, S; Einspieler, C; Sigafoos, J Same or different: Common pathways of behavioral biomarkers in infants and children with neurodevelopmental disorders? BEHAV BRAIN SCI. 2017; 40: e64.

2016

** Marschik, PB; Einspieler, C; Sigafoos, J; Enzinger, C; Bölte, S The interdisciplinary quest for behavioral biomarkers pinpointing developmental disorders. Dev Neurorehabil. 2016; 19(2): 73-74.

Pokorny, FB; Peharz, R; Roth, W; Zöhrer, M; Pernkopf, F; Marschik, PB, Schuller BW Manually versus automated: The challenging routine of infant vocalisation segmentation in home videos to study neuro(mal)development. In: Morgan, N; editors(s). Proceedings Interspeech 2016. San Francisco: p. 2997 - 3001. 2016

2015

** Marschik, PB; Soloveichick, M; Windpassinger, C; Einspieler, C. General movements in genetic disorders: A first look into Cornelia de Lange syndrome. Dev Neurorehabil. 2015; 18(4): 280-282.

2012

** Einspieler, C; Hirota, H; Yuge, M; Dejima, S; Marschik, PB Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. Dev Neurorehabil. 2012; 15(4):313-316.

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