Rima Nabbout1,2, Nathalie Boddaert3,4, Caroline Rutten5,1, Ludovic Fillon1, Mathieu Kuchenbuch1,2, Ana Saitovitch1, Jennifer Boisgontier1, Nicole Chemaly1,2, Delphine Breuillard2, Lisa Ouss6, Volodia Dangouloff-Ros5,1, Thomas Blauwblomme1,7, Monica Zilbovicius1. 1. Imagine Institute for Genetic Diseases, INSERM U1163, Paris, France. 2. Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris cité, 149 rue de Sèvres, 75015, Paris, France. 3. Department of Pediatric Radiology, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris cité, 149 rue de Sèvres, 75015, Paris, France. nathalie.boddaert@aphp.fr. 4. Imagine Institute for Genetic Diseases, INSERM U1163, Paris, France. nathalie.boddaert@aphp.fr. 5. Department of Pediatric Radiology, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris cité, 149 rue de Sèvres, 75015, Paris, France. 6. Department of Child Psychiatry, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris cité, 149 rue de Sèvres, 75015, Paris, France. 7. Department of Pediatric Neurosurgery, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris cité, 149 rue de Sèvres, 75015, Paris, France.
Abstract
OBJECTIVE: To study longitudinal changes in tuber and whole-brain perfusion in children with tuberous sclerosis complex (TSC) using arterial spin labeling (ASL) perfusion MRI and correlate them with pathological EEG slow wave activity and neurodevelopmental outcomes. METHODS: Retrospective longitudinal cohort study of 13 children with TSC, 3 to 6 serial ASL-MRI scans between 2 months and 7 years of age (53 scans in total), and an EEG examination performed within 2 months of the last MRI. Tuber cerebral blood flow (CBF) values were calculated in tuber segmentation masks, and tuber:cortical CBF ratios were used to study tuber perfusion. Logistic regression analysis was performed to identify which initial tuber characteristics (CBF value, volume, location) in the first MRI predicted tubers subsequently associated with EEG slow waves. Whole-brain and lobar CBF values were extracted for all patient scans and age-matched controls. CBF ratios were compared in patients and controls to study longitudinal changes in whole-brain CBF. RESULTS: Perfusion was reduced in tubers associated with EEG slow waves compared with other tubers. Low tuber CBF values around 6 months of age and large tuber volumes were predictive of tubers subsequently associated with EEG slow waves. Patients with severe developmental delay had more severe whole-brain hypoperfusion than those with no/mild delay, which became apparent after 2 years of age and were not associated with a higher tuber load. CONCLUSIONS: Dynamic changes in tuber and brain perfusion occur over time. Perfusion is significantly reduced in tubers associated with EEG slow waves. Whole-brain perfusion is significantly reduced in patients with severe delay. KEY POINTS: • Tubers associated with EEG slow wave activity were significantly more hypoperfused than other tubers, especially after 1 year of age. • Larger and more hypoperfused tubers at 6 months of age were more likely to subsequently be associated with pathological EEG slow wave activity. • Patients with severe developmental delay had more extensive and severe global hypoperfusion than those without developmental delay.
OBJECTIVE: To study longitudinal changes in tuber and whole-brain perfusion in children with tuberous sclerosis complex (TSC) using arterial spin labeling (ASL) perfusion MRI and correlate them with pathological EEG slow wave activity and neurodevelopmental outcomes. METHODS: Retrospective longitudinal cohort study of 13 children with TSC, 3 to 6 serial ASL-MRI scans between 2 months and 7 years of age (53 scans in total), and an EEG examination performed within 2 months of the last MRI. Tuber cerebral blood flow (CBF) values were calculated in tuber segmentation masks, and tuber:cortical CBF ratios were used to study tuber perfusion. Logistic regression analysis was performed to identify which initial tuber characteristics (CBF value, volume, location) in the first MRI predicted tubers subsequently associated with EEG slow waves. Whole-brain and lobar CBF values were extracted for all patient scans and age-matched controls. CBF ratios were compared in patients and controls to study longitudinal changes in whole-brain CBF. RESULTS: Perfusion was reduced in tubers associated with EEG slow waves compared with other tubers. Low tuber CBF values around 6 months of age and large tuber volumes were predictive of tubers subsequently associated with EEG slow waves. Patients with severe developmental delay had more severe whole-brain hypoperfusion than those with no/mild delay, which became apparent after 2 years of age and were not associated with a higher tuber load. CONCLUSIONS: Dynamic changes in tuber and brain perfusion occur over time. Perfusion is significantly reduced in tubers associated with EEG slow waves. Whole-brain perfusion is significantly reduced in patients with severe delay. KEY POINTS: • Tubers associated with EEG slow wave activity were significantly more hypoperfused than other tubers, especially after 1 year of age. • Larger and more hypoperfused tubers at 6 months of age were more likely to subsequently be associated with pathological EEG slow wave activity. • Patients with severe developmental delay had more extensive and severe global hypoperfusion than those without developmental delay.
Authors: Jurriaan M Peters; Maxime Taquet; Anna K Prohl; Benoit Scherrer; Agnies M van Eeghen; Sanjay P Prabhu; Mustafa Sahin; Simon K Warfield Journal: Future Neurol Date: 2013-09
Authors: Rima Nabbout; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D Amato; Guillaume Beaure d'Augères; Petrus J de Vries; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Ruben Marques; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna Jansen; John C Kingswood Journal: Epilepsia Open Date: 2018-12-21
Authors: Angelika Mühlebner; Jackelien van Scheppingen; Hanna M Hulshof; Theresa Scholl; Anand M Iyer; Jasper J Anink; Ans M W van den Ouweland; Mark D Nellist; Floor E Jansen; Wim G M Spliet; Pavel Krsek; Barbora Benova; Josef Zamecnik; Peter B Crino; Daniela Prayer; Thomas Czech; Adelheid Wöhrer; Jasmin Rahimi; Romana Höftberger; Johannes A Hainfellner; Martha Feucht; Eleonora Aronica Journal: PLoS One Date: 2016-06-13 Impact factor: 3.240