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Case Series

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

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Pages 175-179 | Published online: 19 Apr 2012

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Kate A. Schroeder, Benjamin N. Witts & Michele R. Traub. (2022) Opportunities for ABA intervention in Phelan–McDermid syndrome. International Journal of Developmental Disabilities 68:6, pages 984-989.
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Anne Langseth Rysstad, Arvid Nikolai Kildahl, Jon Olav Skavhaug, Monica Stolen Dønnum & Sissel Berge Helverschou. (2022) Case study: organizing outpatient pharmacological treatment of bipolar disorder in autism, intellectual disability and Phelan-McDermid syndrome (22q13.3 deletion syndrome). International Journal of Developmental Disabilities 68:3, pages 378-387.
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Arvid Nikolai Kildahl, Lars Krogh Berg, Anne Lise Enger Nilssen, Kathrine Bjørgo, Olaug Rødningen & Sissel Berge Helverschou. (2020) Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome). Journal of Intellectual & Developmental Disability 45:1, pages 54-58.
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Petra Jungová, Andrea Čumová, Veronika Kramarová, Jana Lisyová, Pavol Ďurina, Ján Chandoga & Daniel Bӧhmer. (2018) Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility. Neurocase 24:4, pages 227-230.
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Liliana Dell’Osso, Claudia Del Grande, Camilla Gesi, Claudia Carmassi & Laura Musetti. (2016) A new look at an old drug: neuroprotective effects and therapeutic potentials of lithium salts. Neuropsychiatric Disease and Treatment 12, pages 1687-1703.
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Sylvia A. Koza, Anne C. Tabet, Maria C. Bonaglia, Stephanie Andres, Britt-Marie. Anderlid, Emmelien Aten, Dominique Stiefsohn, D. Gareth Evans, Conny M.A. van Ravenswaaij-Arts & Sarina G. Kant. (2023) Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22. European Journal of Medical Genetics 66:7, pages 104773.
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Sara M. Sarasua, Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee & Luigi Boccuto. (2023) Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13. Genes 14:3, pages 540.
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Lily Wan, Du Liu, Wen-Biao Xiao, Bo-Xin Zhang, Xiao-Xin Yan, Zhao-Hui Luo & Bo Xiao. (2021) Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries. Cellular and Molecular Neurobiology 42:6, pages 1623-1643.
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Chunlin Li, Yuangeng Wang, Baopeng Li & Shanshan Su. (2022) Effects of Acupuncture at Neiguan in Neural Activity of Related Brain Regions: A Resting-State fMRI Study in Anxiety. Neuropsychiatric Disease and Treatment Volume 18, pages 1375-1384.
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Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado & Pablo Lapunzina. (2022) Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Frontiers in Genetics 13.
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Caitlin E. Middleton, Lisa Hayutin & Judy Reaven. 2022. Comprehensive Clinical Psychology. Comprehensive Clinical Psychology 404 427 .
Anne Desnoyers Hurley, Andrew S. Levitas & Marco O. Bertelli. 2022. Textbook of Psychiatry for Intellectual Disability and Autism Spectrum Disorder. Textbook of Psychiatry for Intellectual Disability and Autism Spectrum Disorder 557 581 .
Yitzchak Frank. (2021) The Neurological Manifestations of Phelan-McDermid Syndrome. Pediatric Neurology 122, pages 59-64.
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Katy Phelan, R. Curtis Rogers & Luigi Boccuto. 2021. Cassidy and Allanson's Management of Genetic Syndromes. Cassidy and Allanson's Management of Genetic Syndromes 317 334 .
Sarah Jacot-Descombes, Neha U. Keshav, Dara L. Dickstein, Bridget Wicinski, William G. M. Janssen, Liam L. Hiester, Edward K. Sarfo, Tahia Warda, Matthew M. Fam, Hala Harony-Nicolas, Joseph D. Buxbaum, Patrick R. Hof & Merina Varghese. (2020) Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats. Molecular Autism 11:1.
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Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng & Juan Li. (2020) Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review. BMC Medical Genomics 13:1.
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Sehrish Javed, Tharushan Selliah, Yu-Ju Lee & Wei-Hsiang Huang. (2020) Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy. Neuroscience & Biobehavioral Reviews 118, pages 538-567.
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Willem M.A. Verhoeven, Jos I.M. Egger & Nicole de Leeuw. (2020) A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome. European Journal of Medical Genetics 63:3, pages 103751.
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Anja G. Bos-Roubos, Linde van Dongen, Willem M. A. Verhoeven & Jos I. M. Egger. 2020. Handbook of Dual Diagnosis. Handbook of Dual Diagnosis 57 76 .
Alexander Kolevzon, Elsa Delaby, Elizabeth Berry-Kravis, Joseph D. Buxbaum & Catalina Betancur. (2019) Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Molecular Autism 10:1.
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P. J. Shanahan, S. Palod, K. J. Smith, C. Fife‐Schaw & N. Mirza. (2019) Interventions for sleep difficulties in adults with an intellectual disability: a systematic review. Journal of Intellectual Disability Research 63:5, pages 372-385.
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Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd HolderJrJr, Catalina Betancur, Joseph D. Buxbaum & Alexander Kolevzon. (2018) Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Molecular Autism 9:1.
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A. Özge Sungur, Tobias M. Redecker, Elena Andres, Wiebke Dürichen, Rainer K. W. Schwarting, Adriana del Rey & Markus Wöhr. (2018) Reduced Efficacy of d-Amphetamine and 3,4-Methylenedioxymethamphetamine in Inducing Hyperactivity in Mice Lacking the Postsynaptic Scaffolding Protein SHANK1. Frontiers in Molecular Neuroscience 11.
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Tobias Rowland, Rani Pathania & Ashok Roy. (2018) Phelan-McDermid syndrome, bipolar disorder and treatment with lithium. British Journal of Learning Disabilities 46:3, pages 202-205.
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Marie Raffin, Angele Consoli, Marianna Giannitelli, Anne Philippe, Boris Keren, Nicolas Bodeau, Douglas F. Levinson, David Cohen & Claudine Laurent-Levinson. (2018) Catatonia in Children and Adolescents: A High Rate of Genetic Conditions. Journal of the American Academy of Child & Adolescent Psychiatry 57:7, pages 518-525.e1.
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Sang-Eun Lee, Jung Ah Kim & Sunghoe Chang. (2018) nArgBP2-SAPAP-SHANK, the core postsynaptic triad associated with psychiatric disorders. Experimental & Molecular Medicine 50:4, pages 1-9.
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Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson & Christopher Oliver. (2017) Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder. Journal of Neurodevelopmental Disorders 9:1.
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Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloes, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot-Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Beneteau, Olivier Pichon, Bertrand Isidor, Albert David, Laila El Khattabi, Stephan Kemeny, Laetitia Gouas, Philippe Vago, Anne-Laure Mosca-Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie-Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gatinois, Jacques Puechberty, Jean Chiesa, James Lespinasse, Christèle Dubourg, Chloé Quelin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme & Thomas Bourgeron. (2017) A framework to identify contributing genes in patients with Phelan-McDermid syndrome. npj Genomic Medicine 2:1.
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Andrea L. Pappas, Alexandra L. Bey, Xiaoming Wang, Mark Rossi, Yong Ho Kim, Haidun Yan, Fiona Porkka, Lara J. Duffney, Samantha M. Phillips, Xinyu Cao, Jin-dong Ding, Ramona M. Rodriguiz, Henry H. Yin, Richard J. Weinberg, Ru-Rong Ji, William C. Wetsel & Yong-hui Jiang. (2017) Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers. JCI Insight 2:20.
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Jos I M Egger, Willem M A Verhoeven, Renske Groenendijk-Reijenga & Sarina G Kant. (2017) Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium . BMJ Case Reports, pages bcr-2017-220778.
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Renée J. Zwanenburg, Selma A.J. Ruiter, Edwin R. van den Heuvel, Boudien C.T. Flapper & Conny M.A. Van Ravenswaaij-Arts. (2016) Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. Journal of Neurodevelopmental Disorders 8:1.
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Chen Zhang, Zhiguo Wu, Wu Hong, Daihui Peng & Yiru Fang. (2016) Evaluating the association between the SHANK3 gene and bipolar disorder. Psychiatry Research 244, pages 284-288.
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J. I. M. Egger, R. J. Zwanenburg, C. M. A. van Ravenswaaij-Arts, T. Kleefstra & W. M. A. Verhoeven. (2016) Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. Genes, Brain and Behavior 15:4, pages 395-404.
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Katy Phelan, Luigi Boccuto & Sara Sarasua. 2016. Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability. Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability 347 364 .
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Sylvie Serret, Susanne Thümmler, Emmanuelle Dor, Stephanie Vesperini, Andreia Santos & Florence Askenazy. (2015) Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports. BMC Psychiatry 15:1.
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Hala Harony-Nicolas, Silvia De Rubeis, Alexander Kolevzon & Joseph D. Buxbaum. (2015) Phelan McDermid Syndrome. Journal of Child Neurology 30:14, pages 1861-1870.
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Wladimir Bocca Vieira Rezende Pinto, José Luiz Pedroso, Paulo Victor Sgobbi Souza, Acary Souza Bulle Oliveira & Orlando Graziani Povoas Barsottini. (2013) Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?. Journal of Neurology 260:11, pages 2900-2902.
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