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16 results on '"Spaeth, Christine G."'

1. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Author

Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., and Shinawi, Marwan S.

Published
2023
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2. Genetic counseling clinic model expansion: Impact on access for general genetics clinic.

Author

Doberstein, Rachel, Pilipenko, Valentina, Pulda, Kathleen, Wusik, Katie, and Spaeth, Christine G.

Abstract

Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period. We found that there were not significant differences in patient demographics scheduled in the GCC as compared with the General Genetics Clinic with the exception of insurance type, where patients scheduled in the GCC were more likely to have private insurance. Patients scheduled in the GCC had a significantly shorter wait time, were more likely to complete their appointment, were more often new to the genetics division, and were more likely to be seen via telehealth (audio plus video or audio‐only) as compared with patients scheduled in the General Genetics Clinic. The most common indications for patients scheduled in the GCC were post‐test counseling (36.0%) followed by pre‐test counseling and coordination of testing (22.3%), and first‐line testing for autism, intellectual disability, and developmental delay (13.7%). Completed appointments in the GCC often resulted in the GC ordering genetic testing (67.5%). After genetic testing results were received, most patients (72.7%) did not require subsequent follow‐up with the genetics division, thereby reducing burden to the medical genetics team. Our GCC increased access to genetic services and allowed GCs and clinical geneticists to better work at the top of their scope of practice. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

Author

Khalaf-Nazzal, Reham, primary, Fasham, James, additional, Inskeep, Katherine A., additional, Blizzard, Lauren E., additional, Leslie, Joseph S., additional, Wakeling, Matthew N., additional, Ubeyratna, Nishanka, additional, Mitani, Tadahiro, additional, Griffith, Jennifer L., additional, Baker, Wisam, additional, Al-Hijawi, Fida’, additional, Keough, Karen C., additional, Gezdirici, Alper, additional, Pena, Loren, additional, Spaeth, Christine G., additional, Turnpenny, Peter D., additional, Walsh, Joseph R., additional, Ray, Randall, additional, Neilson, Amber, additional, Kouranova, Evguenia, additional, Cui, Xiaoxia, additional, Curiel, David T., additional, Pehlivan, Davut, additional, Akdemir, Zeynep Coban, additional, Posey, Jennifer E., additional, Lupski, James R., additional, Dobyns, William B., additional, Stottmann, Rolf W., additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2022
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10. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, Malintan, Nancy T, Llano-Rivas, Isabel, Spaeth, Christine G, Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D, Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry., Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., and Krishnakumar, S. S.

Subjects
Male, Heterozygote, Adolescent, Vesicle-Associated Membrane Protein 2, neuronal exocytosi, synaptopathy, autism, synaptobrevin, Membrane Fusion, Exocytosis, R-SNARE Proteins, Protein Domains, Report, Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Genetics (clinical), Neurons, Neurotransmitter Agents, neurodevelopmental disorders, vesicle fusion, Brain, epilepsy, movement disorders, neuronal exocytosis, SNARE, VAMP2, Lipids, Magnetic Resonance Imaging, neurodevelopmental disorder, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical), Phenotype, Child, Preschool, Mutation, Synapses, Muscle Hypotonia, Female, sense organs, movement disorder
Abstract

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.

Published
2019

11. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, primary, Malintan, Nancy T., additional, Llano-Rivas, Isabel, additional, Spaeth, Christine G., additional, Efthymiou, Stephanie, additional, Striano, Pasquale, additional, Vandrovcova, Jana, additional, Cutrupi, Maria C., additional, Chimenz, Roberto, additional, David, Emanuele, additional, Di Rosa, Gabriella, additional, Marce-Grau, Anna, additional, Raspall-Chaure, Miquel, additional, Martin-Hernandez, Elena, additional, Zara, Federico, additional, Minetti, Carlo, additional, Bello, Oscar D., additional, De Zorzi, Rita, additional, Fortuna, Sara, additional, Dauber, Andrew, additional, Alkhawaja, Mariam, additional, Sultan, Tipu, additional, Mankad, Kshitij, additional, Vitobello, Antonio, additional, Thomas, Quentin, additional, Mau-Them, Frederic Tran, additional, Faivre, Laurence, additional, Martinez-Azorin, Francisco, additional, Prada, Carlos E., additional, Macaya, Alfons, additional, Kullmann, Dimitri M., additional, Rothman, James E., additional, Krishnakumar, Shyam S., additional, Houlden, Henry, additional, Salpietro, Vincenzo, additional, Kriouile, Yamna, additional, El Khorassani, Mohamed, additional, Aguennouz, Mhammed, additional, Karashova, Blagovesta, additional, Avdjieva, Daniela, additional, Kathom, Hadil, additional, Tincheva, Radka, additional, Van Maldergem, Lionel, additional, Nachbauer, Wolfgang, additional, Boesch, Sylvia, additional, Arning, Larissa, additional, Timmann, Dagmar, additional, Cormand, Bru, additional, Pérez-Dueñas, Belen, additional, Pironti, Erica, additional, Goraya, Jatinder S., additional, Kirmani, Salman, additional, Ibrahim, Shahnaz, additional, Jan, Farida, additional, Mine, Jun, additional, Banu, Selina, additional, Veggiotti, Pierangelo, additional, Ferrari, Michel D., additional, Verrotti, Alberto, additional, Marseglia, Gian Luigi, additional, Savasta, Salvatore, additional, Garavaglia, Barbara, additional, Scuderi, Carmela, additional, Borgione, Eugenia, additional, Dipasquale, Valeria, additional, Cutrupi, Maria Concetta, additional, Portaro, Simona, additional, Sanchez, Benigno Monteagudo, additional, Pineda-Marfa’, Mercedes, additional, Munell, Francina, additional, Boles, Richard, additional, Heimer, Gali, additional, Papacostas, Savvas, additional, Manole, Andreea, additional, Malintan, Nancy, additional, Zanetti, Maria Natalia, additional, and Hanna, Michael G., additional

Published
2019
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13. Pediatric Epilepsy Surgery

Author

Qualmann, Krista J., primary, Spaeth, Christine G., additional, Myers, Melanie F., additional, Horn, Paul S., additional, Holland, Katherine, additional, Mangano, Francesco T., additional, and Greiner, Hansel M., additional

Published
2017
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16. Pediatric Epilepsy Surgery: The Prognostic Value of Central Nervous System Comorbidities in Patients and Their Families.

Author

Qualmann, Krista J., Spaeth, Christine G., Myers, Melanie F., Horn, Paul S., Holland, Katherine, Mangano, Francesco T., and Greiner, Hansel M.

Subjects
*PEDIATRICS, *EPILEPSY surgery, *CENTRAL nervous system, *MENTAL health, *SURGICAL complications
Abstract

Central nervous system comorbidities have been identified in patients with epilepsy. Several of these comorbidities have been correlated with poor surgery outcomes in patient cohorts. The authors sought to determine if prevalence of comorbidities in pediatric epilepsy surgery patients and their families correlate with long-term seizure outcome in a cross-sectional analysis. Three-generation pedigrees were elicited to compare family history of epilepsy, ADHD, anxiety, autism, bipolar disorder, cognitive disability, depression, migraine, and motor disability to surgery outcomes in 52 patients. Proportions of affected patients and relatives were compared to general population comorbidity rates and the patients' most recent seizure outcome classification. Patients and families had significantly higher rates of comorbidities than the general population. Poorer long-term seizure outcomes following resective surgery were associated with autism or cognitive disability in patients. Together these data support evidence for a common pathophysiological mechanism between epilepsy and central nervous system comorbidities. [ABSTRACT FROM AUTHOR]

Published
2017
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