Person: Repetto, Gabriela
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Publication Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome(2024) Repetto, Gabriela; Ge, Ruiyang; Ching, Christopher; Bassett, Anne; Kushan, Leila; Antshe, Kevin; Van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy; Campbell, Linda; Chow, Eva; Craig, Michael; Crossley, Nicolas; Cunningham, Adam; Daly, Eileen; Doherty, Joanne; Durdle, Courtney; Emanuel, Beverly; Fiksinski, Ania; Forsyth, Jennifer; Fremont, Wanda; Goodrich-Hunsaker, Naomi; Gudbrandsen, Maria; Gur, Raquel; Jalbrzikowski, Maria; Kates, Wendy; Lin, Amy; Linden, David; McCabe, Kathryn; McDonald, Donna; Moss, Hayley; Murphy, Declan; Murphy, Kieran; Owen, Michael; Villalon, Julio; Roalf, David; Ruparel, Kosha; Schmitt, J. Eric; Schuite, Sanne; Angkustsiri, Kathleen22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1-weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source-based morphometry (SBM) pipeline (SS-Detect) to generate structural brain patterns (SBPs) that capture co-varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV-SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel-based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.Publication Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research(2023) White, Lauren; Crowley, Blaine; Finucane, Brenda; McClellan, Emily; Donoghue, Sarah; Garcia, Sixto; Repetto, Gabriela; Fischer, Matthias; Jacquemont, Sebastien; Gur, Raquel; Maillard, Anne; Donald, Kirsten; Bassett, Anne; Swillen, Ann; McDonald, DonnaBackground: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G2MH) surveyed stakeholders affected by copy number variants (CNVs) regarding perceived incentives for study participation, opinions concerning research priorities, and the necessity for future funding. Respondents were also asked about feelings of preparedness, research burden, and satisfaction with research study participation. Methods: Modified validated surveys were used to assess stakeholders´ views across three domains: (1) Research Study Enrollment, Retainment, Withdrawal, and Future Participation; (2) Overall Research Experience, Burden, and Preparedness; (3) Research Priorities and Obstacles. Top box score analyses were performed. Results: A total of 704 stakeholders´ responded from 29 countries representing 55 CNVs. The top reasons for initial participation in the research included reasons related to education and altruism. The top reasons for leaving a research study included treatment risks and side effects. The importance of sharing research findings and laboratory results with stakeholders was underscored by participants. Most stakeholders reported positive research experiences. Conclusions: This study provides important insight into how individuals and families affected with a rare CNV feel toward research participation and their overall experience in rare disease research. There are clear targets for areas of improvement for study teams, although manystakeholders reported positive research experiences. Key findings from this international survey may help advance collaborative research and improve the experience of participants, investigators, and other stakeholders moving forward.Publication Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome(2023) Boot, Erik; Óskarsdóttir, Sólveig; C Y Loo, Joanne; Crowley, Terrence; Orchanian, Ani; Andrade, Danielle; Arganbright, Jill; Castelein, René; Cserti-Gazdewich, Christine; De Reuver, Steven; Fiksinski, Ania; Klingberg, Gunilla; Lang, Anthony; Mascarenhas, Maria; Moss, Edward; Anna, Beata; Oechslin, Erwin; Palmer, Lisa; Repetto, Gabriela; D Reyes, Nikolai; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen; Swillen, Ann; Van Amelsvoort, Therese; Van Batavia, Jason; Vingerhoets, Claudia; McDonald, Donna; Bassett, AnneThis review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.Publication Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome(2023) Óskarsdóttir, Sólveig; Boot, Erik; Blaine Crowley, Terrence; Loo, Joanne; Arganbright, Jill; Armando, Marco; Baylis, Adriane; Breetvelt, Elemi; Castelein, René; Chadehumbe, Madeline; Cielo, Christopher; De Reuver, Steven; Eliez, Stephan; Fiksinsk, Ania; Forbes, Brian; Gallagher, Emily; Hopkins, Sarah; Jackson, Oksana; Levitz-Katz, Lorraine; Klingberg, Gunilla; Lambert, Michele; Marino, Bruno; Mascarenhas, Maria; Moldenhauer, Julie; Moss, Edward; Nowakowska, Beata; Orchanian-Cheff, Ani; Putotto, Carolina; Repetto, Gabriela; Schindewolf, Erica; Schneider, Maude; Solot, Cynthia; Sullivan, Kathleen; Swillen, Ann; Unolt, Marta; Van Batavia, Jason; Vingerhoets, Claudia; Vorstman, Jacob; Bassett, Anne; McDonald, DonnaThis review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.