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Brain development in VCFS: a longitudinal study

Brain development in VCFS: a longitudinal study. Stephan Eliez. Outline. Introduction and a few words on methods Impact of genetic factors and heart malformations How do early and maturational brain changes relate to psychosis Conclusion. Cortical volume changes in VCFS.

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Brain development in VCFS: a longitudinal study

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  1. Brain development in VCFS:a longitudinal study Stephan Eliez

  2. Outline • Introduction and a few words on methods • Impact of genetic factors and heart malformations • How do early and maturational brain changes relate to psychosis • Conclusion

  3. Cortical volume changes in VCFS Reduction of gray matter volume in 60 patients with VCFS compared to 80 typically developing individuals (6-40 y/old)

  4. Measuring cortical changes Local Gyrification Index 5 4 3 Early 2 Quantify surface in circular region of interest (Schaer et al, IEEE Transactions on Medical Imaging, 2008) Ratio of “hidden cortex” Thickness Later Sensitive to maturational changes

  5. Gyrification in VCFS Right Several regions of reduced surface expansion, which may explain the volume reduction Left 44 patients with VCFS, 53 typically developing Corrected for multiple comparisons using FDR<0.01

  6. Gyrification within VCFS Parental origin of the deletion Left lateral Right lateral 27 patients with maternal origin, 19 with paternal origin Uncorrected for multiple comparisons Left medial Right medial

  7. Gyrification within VCFS Defect of expansion along watershed territories suggests hypoperfusion during cortical development Effect of congenital heart disease Right lateral Right medial Left lateral Left medial 18 with CHD (who underwent surgery), 17 without Uncorrected for multiple comparisons

  8. Psychotic symptoms in VCFS 65 patients with 22q11DS

  9. Gyrification within VCFS 14 patients (12-16yo) 7 with hallucinations 7 without 22 psychotic patients (10-37yo) 22 matched controls 5 with delusion 9 without 44 patients (6-37yo) 53 controls (6-37yo)

  10. … on to the maturation of the cortex 4mm 2mm https://surfer.nmr.mgh.harvard.edu/fswiki/LGI

  11. The Geneva cohort • 61 patients with VCFS (36F/25M) • Mean age 15.6 ± 8.9 (range: 6-37.4) • Average FSIQ 68.7 ± 12.0 • 80 matched controls (44F/36M) • Mean age 15.9 ± 8.4 (range: 6-39.7) • Average FSIQ 111.8 ± 12.8

  12. Cortical thickness changes

  13. Cortical thickness changes Right hemisphere

  14. Delayed thinning in preadolescents (younger than 9 at T1) Faster thinning in adolescents (older than 9 at T1) Trajectories of cortical thickness Longitudinal measures of cortical changes over 3 years 32 patients younger than 18 at first time-point (T1) & 31 matched controls

  15. Thickness changes in 22q11DS … but a faster thinning with age in patients Uncorrected for multiple comparisons Thicker cortex in patients compared to control… Study-specific template, Covarying for gender and age corrected for multiple comparisons using FDR<0.05

  16. Cortical thickness & schizophrenia • 19 adult patients (6 with schizophrenia, 13 without) - 27 healthy adults

  17. Conclusion • Brain changes in VCFS are complex because they are caused by: • Early changes in cortical folding & • Later changes during cortical maturation (dysmaturation) • In addition, there is an important variability in inter-individual brain development resulting from genetic factors and environmental factors (e.g. heart malformation) • Greater dysmaturation is associated with psychosis. This opens new avenues for prevention and treatment

  18. Stephan Eliez Martin Debbané Bronwyn Glaser Annalaura Lagioia Catherine Pasca Marie Schaer Catherine Audrin Astrid Flahault Marie-Christine Ottet Michal Epstein Maude Schneider Mélanie Chabloz

  19. Thank you for your attention... Additional thanks go to: • Participating parents and their families • Connect 22 & Génération 22 family associations • VCFS Educational Foundation • Service Médico-Pédagogique • The Swiss National Fund • Fondation Gertrude von Meissner

  20. COMT in patients with 22q11DS Yellow: thinner in Met compared to Val Blue: thinner in Val compared to Met Yellow: faster thinning in Met than Val Blue: faster thinning in Val than Met • Cross-sectional: 29 Met / 28 Val • Longitudinal: 15 Met / 18 Val Study 6 - Schaer, Debbané, Bach Cuadra, Ottet, Glaser, Thiran & Eliez, Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome: a cross-sectional and longitudinal study, in revision

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