OBJECTIVE: There is little systematic data on early neurodevelopmental functioning of infants with Smith-Magenis syndrome, since early diagnosis is rare. METHODS: A boy with cytogenetically confirmed Smith-Magenis syndrome was videotaped at 4 months and 1 week of age. His posture and spontaneous movements were analysed without knowing the diagnosis. RESULTS: The motor repertoire appeared significantly reduced; fidgety general movements, which are typical of that age, were missing. Posture was abnormal and overall movements were jerky and monotonous. The findings indicate a severe motor impairment by no more than 4 months of age. CONCLUSION: It was concluded that an absence of fidgety movements that goes along with subtle dysmorphic features indicates an increased risk of maldevelopment and justifies the need to refer for genetic evaluation with the potential of facilitating earlier diagnosis.
OBJECTIVE: There is little systematic data on early neurodevelopmental functioning of infants with Smith-Magenis syndrome, since early diagnosis is rare. METHODS: A boy with cytogenetically confirmed Smith-Magenis syndrome was videotaped at 4 months and 1 week of age. His posture and spontaneous movements were analysed without knowing the diagnosis. RESULTS: The motor repertoire appeared significantly reduced; fidgety general movements, which are typical of that age, were missing. Posture was abnormal and overall movements were jerky and monotonous. The findings indicate a severe motor impairment by no more than 4 months of age. CONCLUSION: It was concluded that an absence of fidgety movements that goes along with subtle dysmorphic features indicates an increased risk of maldevelopment and justifies the need to refer for genetic evaluation with the potential of facilitating earlier diagnosis.
Authors: Peter B Marschik; Ralf Vollmann; Katrin D Bartl-Pokorny; Vanessa A Green; Larah van der Meer; Thomas Wolin; Christa Einspieler Journal: Dev Neurorehabil Date: 2013-07-19 Impact factor: 2.308
Authors: Dafne Herrero; Christa Einspieler; Carolina Y Panvequio Aizawa; Akmer Mutlu; Hong Yang; Alice Nogolová; Jasmin Pansy; Karin Nielsen-Saines; Peter B Marschik Journal: Res Dev Disabil Date: 2017-06-03
Authors: 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 Journal: Curr Neurol Neurosci Rep Date: 2017-05 Impact factor: 5.081
Authors: Christa Einspieler; Peter B Marschik; Wanderley Domingues; Victor B Talisa; Katrin D Bartl-Pokorny; Thomas Wolin; Jeff Sigafoos Journal: J Dev Phys Disabil Date: 2014-04
Authors: Peter B Marschik; Marina Soloveichick; Christian Windpassinger; Christa Einspieler Journal: Dev Neurorehabil Date: 2013-12-04 Impact factor: 2.308
Authors: Christa Einspieler; Jeff Sigafoos; Sven Bölte; Katrin D Bratl-Pokorny; Rebecca Landa; Peter B Marschik Journal: Res Autism Spectr Disord Date: 2014-01-09