Citations 2
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Lin, Angela E. , Scimone, Eleanor R., Thom, Robyn P. , Kinane, T. Bernard , Moschovis, Peter P. , Tan, Weizhen, Hague, Cole , Dannheim, Katelyn , Levitsky, Lynne L. , Lilly, Evelyn , DiGiacomo, Daniel , Masse, Kara M., Kadzielski, Sarah, Zar‐Kessler, Claire , Ginns, Leo C., Colvin, Mary K. , Elder, Jack S. , Learn, Christopher P. , Mou, Hongmei , Weagle, Kathryn M., Butler, William E. , Alhadid, Kenda , Musolino, Patricia L. , Sultana, Sadia , Chou, Elizabeth L. , Dorfman, Aaron T. , Morris, Shaine A. , Bergin, James D., Rayment, Jonathan H. , Schimmenti, Lisa A. , Lindsay, Mark E. , Group, MGH Myhre Syndrome Study, Kinane, T Bernard , Moschovis, Peter P , Dannheim, Katelyn , Levitsky, Lynne L , Lilly, Evelyn , DiGiacomo, Daniel V , Neumeyer, Ann M , Colvin, Mary K , Elder, Jack S , Alhadid, Kenda , Rapalino, Otto , Dorfman, Aaron T , Morris, Shaine A , Schimmenti, Lisa A , Lindsay, Mark E , Balaguru, Duraisamy , Cohen, Michael S. , Buch, Karen A , Bandyopadhyay, Dhrubajyoti , Peacock, Zachary S. , Heidary, Gena , Group, MGH Myhre Syndrome Study
American Journal of Medical Genetics Part A | May 23, 2024 | Volume: 194 | Issue: 10 | Pages: No page available
AbstractMyhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence‐based guidelines in anticipation of disease‐specific therapies.
Social Determinants of Health and Redirection of Care for Infants Born Extremely Preterm
Bann, Carla , Vohr, Betty R. , McGowan, Elisabeth C. , Harmon, Heidi M. , Hintz, Susan R. , Duncan, Andrea F. , Polin, Richard A. , Laptook, Abbot R. , Mayne, Julie, Lamberson, Vita, Keszler, Mary Lenore, Hensman, Angelita M. , Vieira, Elisa , Pierre, Lucille St., Burke, Robert T., Alksninis, Barbara, Leach, Teresa M., Knoll, Andrea M., Moffat, Stephanie, Newman, Nancy S., Wilson-Costello, Deanne E. , Siner, Bonnie S., Friedman, Harriet, Truog, William E., Pallotto, Eugenia K. , Kilbride, Howard W. , Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Scott, Allison, Parimi, Prabhu S., Gaetano, Lisa, Merhar, Stephanie L. , Schibler, Kurt, Poindexter, Brenda B. , Cahill, Tanya E., Dudley, Juanita , Gratton, Teresa L., Grisby, Cathy, Henkes, Lisa, Kirker, Kristin, Stacey, Sara, Wuertz, Sandra, Cotten, C. Michael , Goldberg, Ronald N., Goldstein, Ricki F., Malcolm, William , Ashley, Patricia L., Mago-Shah, Deesha, Finkle, Joanne, Fisher, Kimberley A. , Gustafson, Kathryn E. , Bose, Carl , Bernhardt, Janice, Bose, Gennie, Clark, Cindy, Wereszczak, Janice, Warner, Diane, Talbert, Jennifer, Kicklighter, Stephen D. , Bentley, Alexandra, Edwards, Laura , Rhodes-Ryan, Ginger, Carlton, David P., Loggins, Yvonne, Adams‐Chapman, Ira , Bottcher, Diane I., Carter, Sheena L., Hale, Ellen C., Kendrick-Allwood, Salathiel, Laursen, Judith, LaRossa, Maureen Mulligan, Mackie, Colleen, Sanders, Amy , Smikle, Gloria V., Wineski, Lynn, Walsh, Michele C. , Bremer, Andrew A. , Higgins, Rosemary D. , Archer, Stephanie Wilson , Sokol, Gregory M. , Papile, L.A., Herron, Dianne E., Hines, Abbey C. , Lytle, Carolyn, Smiley, Lucy, Wilson, Leslie Dawn, Watkins, Donna, Gunn, Susan, Joyce, Jeff, Tyson, Jon E., Kennedy, Kathleen A. , Mosquera, Ricardo A. , Eason, Elizabeth, Stephens, Emily K. , Alaniz, Nora I., Allain, Elizabeth, Arldt-McAlister, Julie, Boricha, Fatima, Burson, Katrina, Garcia, Carmen, Hall, Donna J., John, Janice , Jones, Patrick M., Lillie, M. Layne, Mason, Carrie M., Martin, Karen , Martin, Sara C., McDavid, Georgia E., McKee, Shannon L. , Poe, Michelle, Rennie, Kimberly , Reddy, Tina, Rodgers, Shawna, Siddiki, Saba Khan, Sperry, Daniel K., Tate, Patti L. Pierce, Wright, Sharon L., Zanger, Dinorah, Jadcherla, Sudarshan R. , Timan, Christopher J., Luzader, Patricia, Batterson, Nancy, Baugher, Hallie, Beckford, Demi R., Burkhardt, Stephanie, Carey, Helen , Chao, Michelle, Cira, Courtney, Clark, Erna, DeSantis, Brittany, Fowler, Aubrey, Gutentag, Julie, Grothause, Jennifer L., Hague, Cole , Levengood, Katelyn, Marzec, Laura, McCool, Jacqueline, Miller, Bethany, Nelin, Mary Ann , Park, Courtney, Purnell, Jessica, Seabrook, Ruth , Shadd, Julie C., Small, Kristi , Stein, Melanie, Sullivan, Margaret, Sullivan, Rox Ann, Warnimont, Kyrstin, Yossef‐Salameh, Lina, Fearns, Erin, Wallace, Dennis, Auman, Jeanette O’Donnell , Gabrio, Jenna, Huitema, Carolyn M. Petrie , Zaterka-Baxter, Kristin M. , Meurs, Krisa P. Van , Chock, Valerie Y. , Stevenson, David K. , Ball, M. Bethany , Bahmani, Dona, Adams, Marian M. , Bentley, Barbara, DeAnda, Maria Elena, DeBattista, Anne M., Earhart, Beth, Huffman, Lynne C. , Krueger, Casey E., Lucash, Ryan E., Proud, Melinda S., Reichert, Elizabeth N., Weiss, Hali E., Williams, R. Jordan , Peralta-Carcelén, Myriam , Collins, Monica V., Cosby, Shirley S., Bailey, Kirstin J., Biasini, Fred J., Chopko, Stephanie A., Domnanovich, Kristy A., Jno-Finn, Chantel J., Ladinsky, Morissa, Moses, Mary Beth, Buie, Cindie, McNair, Tara E., Phillips, Vivien A., Preskitt, Julie , Rector, Richard V., Stringer, Kimberlly, Whitley, Sally, Chapman, Sheree York, Devaskar, Uday, Garg, Meena, Purdy, Isabell B., Chanlaw, Teresa , Geller, Rachel , Johnson, Karen, Eastman, Diane L., Walker, Jacky R., Goeke, Claire A., Schmelzel, Mendi L., Faruqui, Sarah E., Coulter, Brenda J., Schrimper, Bailey M., Jellison, Sydney S., Knosp, L.K., Arnold, Sandra J., Andrews, Haley A., Ellsbury, Dan L., Bass, Donia B., Tud, Tracy L., Baack, Michelle , Richards, Laurie A., Henning, Megan M., Elenkiwich, Chelsey, Broadbent, Megan, Muyden, Sarah Van, Brodkorb, Aimee, Watterberg, Kristi L. , Fuller, Janell, Ohls, Robin K. , Lacy, Conra Backstrom, Hartenberger, Carol, Beauman, Sandra Sundquist , Hanson, Mary, Lowe, Jean, Kuan, Elizabeth, Eichenwald, Eric C. , Abbasi, Soraya, Chaudhary, Aasma S. , Cucinotta, Dara M., Bernbaum, Judy, Gerdes, Marsha , Ghavam, Savin, Hurt, Hallam, Snyder, Jonathan, Ziolkowski, Kristina, Dhawan, Megan , Booth, Lauren, Catts, Christine, D’Angio, Carl T., Guillet, Ronnie , Myers, Gary J. , Reynolds, Anne Marie , Wadkins, Holly I.M., Sacilowski, Michael G., Jensen, Rosemary L., Merzbach, Joan, Zorn, William, Farooq, Osman , Maffett, Dee, Williams, Ashley, Hunn, Julianne, Guilford, Stephanie , Yost, Kelley, Rowan, Mary, Prinzing, Diane, Bowman, Melissa, Reubens, Linda J., Scorsone, Ann Marie, Harley-McAndrew, Michelle, Fallone, Caitlin, Binion, Kyle, Orme, Constance, Sabaratnam, Premini , Jones, Rachel , Boylin, Elizabeth, Rochez, Daisy, Li, Emily, Kachelmeyer, Jennifer , McKee, Kimberly G., Coleman, Kelly R., Moreland, Melissa, Cavanaugh, Brenna, Wyckoff, Myra H. , Heyne, Roy J. , Vasil, Diana M., Adams, Sally S., Chen, Lijun , Leon, Maria Magdalena, Duran, Joanne, Eubanks, Frances, McDougald, Rebecca, Pavageau, Lara, Sepulveda, Pollieanna , Guzman, Alicia, Harrod, M. J. E., Heyne, Elizabeth T., Madden, Linda A., Lee, Lizette E. , Puentez, Anna E., Tolentino-Plata, Kristine , Boatman, Cathy Twell, Vera, Azucena, Waterbury, Jillian, Yoder, Bradley A. , Baserga, Mariana , Faix, Roger G., Minton, Stephen D., Sheffield, Mark J., Rau, Carrie A., Baker, Shawna, Burnett, Jill, Christensen, Susan, Bledsoe, Laura Cole, Cunningham, Sean D. , Davis, Brandy, Elmont, Jennifer O., Hall, Becky, Jensen, Erika R., Loertscher, Manndi C., Marchant, Trisha, Maxson, Earl, McGrath, Kandace M., Mickelsen, Hena G., Morshedzadeh, Galina, Parry, Dilys M. , Reich, Brixen A., Schaefer, Susan T., Stout, Kelly, Stuart, Ashley L., Weaver-Lewis, Kimberlee, Winter, Sarah , Woodbury, Kathryn D., Osborne, Karen A., Bird, Karie, Coleman, Kathleen, Francom, Barbara L., Jordan, Jamie, Steffen, Mike, Tice, Katherine, Shankaran, Seetha , Natarajan, Girija , Pappas, Athina, Sood, Beena G. , Bajaj, Monika , February, Melissa, Agarwal, Prashant , Chawla, Sanjay , Bara, Rebecca, Childs, Kirsten, Woldt, Eunice, Goldston, Laura A., Wiggins, Stephanie A., Christensen, Mary, Carlson, Martha, White, Diane F., Baack, Michelle L , Brumbaugh, Jane E. , Bell, Edward F. , Travers, Colm P. , Carlo, Waldemar A. , Keszler, Martin , Watson, Victoria E. , Hibbs, Anna Maria , Kim, Jae Hong , Yolton, Kimberly , Russell, David G. , Laughon, Matthew Maxwell , White, Donna, Patel, Ravi M. , Stoll, Barbara J. , Sewell, Elizabeth , Maitre, Nathalie L. , (deceased), Jeff Joyce, Khan, Amir M , Rysavy, Matthew A. , Dempsey, Allison G. , White, Michelle, Sánchez, Pablo J. , Slaughter, Jonathan L. , Nelin, Leif Daniel , Yeates, Keith Owen , Fortney, Christine A. , Keim, Sarah A. , Newton, Julia L. , Pietruszewski, Lindsay , Das, Abhik , Gantz, Marie G. , Wiener, Laura Elizabeth , Crawford, Margaret M. , Newman, Jamie E. , Parlberg, Lindsay M. , Taylor, Heather Lee , Ambalavanan, Namasivayam , Colaizy, Tarah T. , Widness, John A. , DeMauro, Sara B. , Schmidt, Barbara Kristina , Kirpalani, Haresh Murli , Mancini, Toni, Lakshminrusimha, Satyan , Kent, Alison , Brion, Luc P. , Leon, Maria M. De, Harrod, Michelle, Parry, D. Melody, Coleman, Kathleen, Barks, John
JAMA Pediatrics | March 11, 2024 | Volume: 178 | Issue: 5 | Pages: 454
10.1001/jamapediatrics.2024.0125
ImportanceRedirection of care refers to withdrawal, withholding, or limiting escalation of treatment. Whether maternal social determinants of health are associated with redirection of care discussions merits understanding.ObjectiveTo examine associations between maternal social determinants of health and redirection of care discussions for infants born extremely preterm.Design, Setting, and ParticipantsThis is a retrospective analysis of a prospective cohort of infants born at less than 29 weeks’ gestation between April 2011 and December 2020 at 19 National Institute of Child Health and Human Development Neonatal Research Network centers in the US. Follow-up occurred between January 2013 and October 2023. Included infants received active treatment at birth and had mothers who identified as Black or White. Race was limited to Black and White based on service disparities between these groups and limited sample size for other races. Maternal social determinant of health exposures were education level (high school nongraduate or graduate), insurance type (public/none or private), race (Black or White), and ethnicity (Hispanic or non-Hispanic).Main Outcomes and MeasuresThe primary outcome was documented discussion about redirection of infant care. Secondary outcomes included subsequent redirection of care occurrence and, for those born at less than 27 weeks’ gestation, death and neurodevelopmental impairment at 22 to 26 months’ corrected age.ResultsOf the 15 629 infants (mean [SD] gestational age, 26 [2] weeks; 7961 [51%] male) from 13 643 mothers, 2324 (15%) had documented redirection of care discussions. In unadjusted comparisons, there was no significant difference in the percentage of infants with redirection of care discussions by race (Black, 1004/6793 [15%]; White, 1320/8836 [15%]) or ethnicity (Hispanic, 291/2105 [14%]; non-Hispanic, 2020/13 408 [15%]). However, after controlling for maternal and neonatal factors, infants whose mothers identified as Black or as Hispanic were less likely to have documented redirection of care discussions than infants whose mothers identified as White (Black vs White adjusted odds ratio [aOR], 0.84; 95% CI, 0.75-0.96) or as non-Hispanic (Hispanic vs non-Hispanic aOR, 0.72; 95% CI, 0.60-0.87). Redirection of care discussion occurrence did not differ by maternal education level or insurance type.Conclusions and RelevanceFor infants born extremely preterm, redirection of care discussions occurred less often for Black and Hispanic infants than for White and non-Hispanic infants. It is important to explore the possible reasons underlying these differences.