Response to Letter to the Editor by Palffy and Ghaziuddin

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2023)

引用 0|浏览10
暂无评分
摘要
American Journal of Medical Genetics Part AVolume 191, Issue 5 p. 1470-1473 RESEARCH LETTER Response to Letter to the Editor by Palffy and Ghaziuddin Stephanie L. Santoro, Corresponding Author Stephanie L. Santoro [email protected] orcid.org/0000-0002-4172-0288 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA Correspondence Stephanie L. Santoro, Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 125 Nashua St., Suite 821, Boston, MA 02114, USA. Email: [email protected]Search for more papers by this authorNicole T. Baumer, Nicole T. Baumer orcid.org/0000-0003-2170-3058 Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorMichelle Cornacchia, Michelle Cornacchia Geisinger Health System, Danville, Pennsylvania, USASearch for more papers by this authorCatherine Franklin, Catherine Franklin Mater Research Institute-University of Queensland, The University of Queensland, South Brisbane, AustraliaSearch for more papers by this authorSarah J. Hart, Sarah J. Hart orcid.org/0000-0003-0974-3209 Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USASearch for more papers by this authorKelsey Haugen, Kelsey Haugen Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorMargaret A. Hojlo, Margaret A. Hojlo orcid.org/0000-0003-3757-9776 Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorNora Horick, Nora Horick Biostatistics Center, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorPriya S. Kishnani, Priya S. Kishnani Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USASearch for more papers by this authorKavita Krell, Kavita Krell orcid.org/0000-0002-7905-871X Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorAndrew McCormick, Andrew McCormick Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USASearch for more papers by this authorAnna L. Milliken, Anna L. Milliken Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorNicolas M. Oreskovic, Nicolas M. Oreskovic orcid.org/0000-0001-8702-8636 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorKatherine G. Pawlowski, Katherine G. Pawlowski Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorSabrina Sargado, Sabrina Sargado Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorAmy Torres, Amy Torres Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorDiletta Valentini, Diletta Valentini Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Rome, ItalySearch for more papers by this authorKishore Vellody, Kishore Vellody orcid.org/0000-0002-2116-6486 Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USASearch for more papers by this authorBrian G. Skotko, Brian G. Skotko orcid.org/0000-0002-5232-9882 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this author Stephanie L. Santoro, Corresponding Author Stephanie L. Santoro [email protected] orcid.org/0000-0002-4172-0288 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA Correspondence Stephanie L. Santoro, Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 125 Nashua St., Suite 821, Boston, MA 02114, USA. Email: [email protected]Search for more papers by this authorNicole T. Baumer, Nicole T. Baumer orcid.org/0000-0003-2170-3058 Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorMichelle Cornacchia, Michelle Cornacchia Geisinger Health System, Danville, Pennsylvania, USASearch for more papers by this authorCatherine Franklin, Catherine Franklin Mater Research Institute-University of Queensland, The University of Queensland, South Brisbane, AustraliaSearch for more papers by this authorSarah J. Hart, Sarah J. Hart orcid.org/0000-0003-0974-3209 Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USASearch for more papers by this authorKelsey Haugen, Kelsey Haugen Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorMargaret A. Hojlo, Margaret A. Hojlo orcid.org/0000-0003-3757-9776 Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorNora Horick, Nora Horick Biostatistics Center, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorPriya S. Kishnani, Priya S. Kishnani Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USASearch for more papers by this authorKavita Krell, Kavita Krell orcid.org/0000-0002-7905-871X Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorAndrew McCormick, Andrew McCormick Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USASearch for more papers by this authorAnna L. Milliken, Anna L. Milliken Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorNicolas M. Oreskovic, Nicolas M. Oreskovic orcid.org/0000-0001-8702-8636 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorKatherine G. Pawlowski, Katherine G. Pawlowski Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorSabrina Sargado, Sabrina Sargado Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorAmy Torres, Amy Torres Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USASearch for more papers by this authorDiletta Valentini, Diletta Valentini Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Rome, ItalySearch for more papers by this authorKishore Vellody, Kishore Vellody orcid.org/0000-0002-2116-6486 Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USASearch for more papers by this authorBrian G. Skotko, Brian G. Skotko orcid.org/0000-0002-5232-9882 Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this author First published: 06 January 2023 https://doi.org/10.1002/ajmg.a.63116Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Anthonio, G., Malik, F., Ghomeshi, A., Lopez, O., & Gralnik, L. (2022). Maintenance electroconvulsive therapy, developmental regression, depression and catatonia in an adolescent with Down syndrome: A case report. Cureus, 14(11), e31905. https://doi.org/10.7759/cureus.31905 Cardinale, K. M., Bocharnikov, A., Hart, S. J., Baker, J. A., Eckstein, C., Jasien, J. M., Gallentine, W., Worley, G., Kishnani, P. S., & van Mater, H. (2019). Immunotherapy in selected patients with Down syndrome disintegrative disorder. Developmental Medicine and Child Neurology, 61(7), 847– 851. https://doi.org/10.1111/dmcn.14127 Das, S., Prasad, S., Fichadia, P. A., Shrestha, A. B., Amuk Williams, O. C., & Bachu, A. (2022). Recurrent catatonia due to episodic obsessive-compulsive disorder. Case Reports in Psychiatry, 2022, 2022474. https://doi.org/10.1155/2022/2022474 Edinoff, A. N., Kaufman, S. E., Hollier, J. W., Virgen, C. G., Karam, C. A., Malone, G. W., Cornett, E. M., Kaye, A. M., & Kaye, A. D. (2021). Catatonia: Clinical overview of the diagnosis, treatment, and clinical challenges. Neurology International, 13(4), 570– 586. https://doi.org/10.3390/neurolint13040057 Ghaziuddin, N., Nassiri, A., & Miles, J. H. (2015). Catatonia in down syndrome; a treatable cause of regression. Neuropsychiatric Disease and Treatment, 11, 941– 949. https://doi.org/10.2147/NDT.S77307 Hart, S. J., Worley, G., Kishnani, P. S., & Van Mater, H. (2021). Case report: Improvement following immunotherapy in an individual with seronegative Down syndrome disintegrative disorder. Frontiers in Neurology, 12, 621637. https://doi.org/10.3389/fneur.2021.621637 Jain, A., & Mitra, P. (2022). Catatonic schizophrenia. In StatPearls. StatPearls Publishing. Jap, S. N., & Ghaziuddin, N. (2011). Catatonia among adolescents with Down syndrome: A review and 2 case reports. The Journal of ECT, 27(4), 334– 337. https://doi.org/10.1097/YCT.0b013e31821d37c6 Miles, J. H., Takahashi, N., Muckerman, J., Nowell, K. P., & Ithman, M. (2019). Catatonia in Down syndrome: Systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients. Neuropsychiatric Disease and Treatment, 15, 2723– 2741. https://doi.org/10.2147/NDT.S210613 Mircher, C., Cieuta-Walti, C., Marey, I., Rebillat, A. S., Cretu, L., Milenko, E., Conte, M., Sturtz, F., Rethore, M. O., & Ravel, A. (2017). Acute regression in young people with Down syndrome. Brain Sciences, 7(6), 57. https://doi.org/10.3390/brainsci7060057 Rathinakumar, H., Schutz, C., Smith, R., French, B. R., Mhadi, E., & Brandt, K. (2022). Creutzfeldt-Jakob disease presenting as catatonia with desaturation on lorazepam challenge. Annals of Clinical Psychiatry, 34(3), 209– 211. https://doi.org/10.12788/acp.0077 Santoro, J. D., Partridge, R., Tanna, R., Pagarkar, D., Khoshnood, M., Rehmani, M., Kammeyer, R. M., Gombolay, G. Y., Fisher, K., Conravey, A., el-Dahr, J., Christy, A. L., Patel, L., Manning, M. A., van Mater, H., Rafii, M. S., & Quinn, E. A. (2022). Evidence of neuroinflammation and immunotherapy responsiveness in individuals with Down syndrome regression disorder. Journal of Neurodevelopmental Disorders, 14(1), 35. https://doi.org/10.1186/s11689-022-09446-w Santoro, J. D., Patel, L., Kammeyer, R., Filipink, R. A., Gombolay, G. Y., Cardinale, K. M., Real de Asua, D., Zaman, S., Santoro, S. L., Marzouk, S. M., Khoshnood, M., Vogel, B. N., Tanna, R., Pagarkar, D., Dhanani, S., Ortega, M. C., Partridge, R., Stanley, M. A., Sanders, J. S., … Rafii, M. S. (2022). Assessment and diagnosis of Down syndrome regression disorder: International expert consensus. Frontiers in Neurology, 13, 940175. https://doi.org/10.3389/fneur.2022.940175 Santoro, S. L., Baumer, N. T., Cornacchia, M., Franklin, C., Hart, S. J., Haugen, K., Hojlo, M. A., Horick, N., Kishnani, P. S., Krell, K., McCormick, A., Milliken, A. L., Oreskovic, N. M., Pawlowski, K. G., Sargado, S., Torres, A., Valentini, D., Vellody, K., & Skotko, B. G. (2022). Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. American Journal of Medical Genetics. Part A, 188(10), 3049– 3062. https://doi.org/10.1002/ajmg.a.62922 Santoro, S. L., Cannon, S., Capone, G., Franklin, C., Hart, S. J., Hobensack, V., Kishnani, P. S., Macklin, E. A., Manickam, K., McCormick, A., Nash, P., Oreskovic, N. M., Patsiogiannis, V., Steingass, K., Torres, A., Valentini, D., Vellody, K., & Skotko, B. G. (2020). Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genetics in Medicine, 22(4), 767– 776. https://doi.org/10.1038/s41436-019-0706-8 Sargado, S., Milliken, A. L., Hojlo, M. A., Pawlowski, K. G., Deister, D., Soccorso, C. N., & Baumer, N. T. (2022). Is developmental regression in down syndrome linked to life stressors? Journal of Developmental and Behavioral Pediatrics, 43(7), 427– 436. https://doi.org/10.1097/DBP.0000000000001086 Stredny, C. M., Hauptman, A. J., Sargado, S., Soccorso, C., Katz, T., Gorman, M. P., & Baumer, N. T. (2022). Development of a multidisciplinary clinical approach for unexplained regression in Down syndrome. American Journal of Medical Genetics. Part A, 188(8), 2509– 2511. https://doi.org/10.1002/ajmg.a.62870 Worley, G., Crissman, B. G., Cadogan, E., Milleson, C., Adkins, D. W., & Kishnani, P. S. (2015). Down syndrome disintegrative disorder: New-onset autistic regression, dementia, and insomnia in older children and adolescents with Down syndrome. Journal of Child Neurology, 30(9), 1147– 1152. https://doi.org/10.1177/0883073814554654 Volume191, Issue5May 2023Pages 1470-1473 ReferencesRelatedInformation
更多
查看译文
关键词
letter,palffy,response,editor
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要