Updated consensus guidelines on the management of Phelan-McDermid syndrome

被引：18

作者：

Srivastava, Siddharth ^{[1
,2
]}

Sahin, Mustafa ^{[1
,2
]}

Buxbaum, Joseph D. ^{[3
,4
,5
,6
]}

Berry-Kravis, Elizabeth ^{[7
,8
,9
]}

Soorya, Latha Valluripalli ^{[10
]}

Thurm, Audrey ^{[11
]}

Bernstein, Jonathan A. ^{[12
]}

Asante-Otoo, Afua ^{[13
]}

Bennett, William E., Jr. ^{[14
]}

Betancur, Catalina ^{[15
]}

Brickhouse, Tegwyn H. ^{[16
]}

Bueno, Maria Rita Passos ^{[17
]}

Chopra, Maya ^{[1
,2
]}

Christensen, Celanie K. ^{[18
,19
]}

Cully, Jennifer L. ^{[20
,21
]}

Dies, Kira ^{[1
,2
]}

Friedman, Kate ^{[3
,4
]}

Gummere, Brittany ^{[22
]}

Holder, J. Lloyd, Jr. ^{[23
]}

Jimenez-Gomez, Andres ^{[24
]}

Kerins, Carolyn A. ^{[25
]}

Khan, Omar ^{[26
]}

Kohlenberg, Teresa ^{[27
]}

Lacro, Ronald V. ^{[28
,29
]}

Levi, Lori A. ^{[30
]}

Levy, Tess ^{[3
]}

Linnehan, Diane ^{[31
]}

Eva, Loth ^{[32
]}

Moshiree, Baharak ^{[33
]}

Neumeyer, Ann ^{[34
]}

Paul, Scott M. ^{[13
]}

Phelan, Katy ^{[35
]}

Persico, Antonio ^{[36
]}

Rapaport, Robert ^{[37
]}

Rogers, Curtis ^{[38
]}

Saland, Jeffrey ^{[37
]}

Sethuram, Swathi ^{[39
]}

Shapiro, Janine ^{[40
]}

Tarr, Phillip I. ^{[41
]}

White, Kerry M. ^{[18
,42
]}

Wickstrom, Jordan ^{[43
]}

Williams, Kent M. ^{[44
]}

Winrow, Dana ^{[45
]}

Wishart, Brian ^{[46
]}

Kolevzon, Alexander ^{[3
,4
,37
,47
]}

机构：

[1] Boston Childrens Hosp, Dept Neurol, Boston, MA USA

[2] Harvard Med Sch, Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Boston, MA USA

[3] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA

[4] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA

[5] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA

[6] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA

[7] Rush Univ, Dept Pediat, Med Ctr, Chicago, IL USA

[8] Rush Univ, Dept Neurol Sci, Med Ctr, Chicago, IL USA

[9] Rush Univ, Dept Biochem, Med Ctr, Chicago, IL USA

[10] Rush Univ, Dept Psychiat & Behav Sci, Med Ctr, Chicago, IL USA

[11] NIMH, Neurodev & Behav Phenotyping Serv, NIH, Bethesda, MD USA

[12] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA USA

[13] NIH, Rehabil Med Dept, Clin Ctr, Bethesda, MD USA

[14] Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN USA

[15] Sorbonne Univ, Inst Biol Paris Seine, INSERM, CNRS,Neurosci Paris Seine, Paris, France

[16] Virginia Commonwealth Univ, Sch Dent, Dept Dent Publ Hlth & Policy, Richmond, VA USA

[17] Univ Sao Paulo, Ctr Estudos Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Inst Biociencias, Sao Paulo, Brazil

[18] Riley Childrens Hlth, Dept Pediat, Div Dev Med, Indianapolis, IN USA

[19] Riley Childrens Hlth, Dept Neurol, Div Child Neurol, Indianapolis, IN USA

[20] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Coll Med, Dept Pediat, Cincinnati, OH USA

[21] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Div Dent & Orthodont, Cincinnati, OH USA

[22] Indiana Univ, Indianapolis, IN USA

[23] Baylor Coll Med, Dept Pediat Neurol, Houston, TX USA

[24] Joe DiMaggio Childrens Hosp, Hollywood, FL USA

[25] Texas A&M Univ, Sch Dent, Dept Pediat Dent, Dallas, TX USA

[26] NINDS, Bethesda, MD USA

[27] Univ Massachusetts, Chan Med Sch, Worcester, MA USA

[28] Harvard Med Sch, Boston Childrens Hosp, Dept Cardiol, Dept Pediat, Boston, MA USA

[29] Harvard Med Sch, Boston, MA USA

[30] Univ Southern Calif, Arcadia, CA USA

[31] Phelan McDermid Syndrome Fdn, Osprey, FL USA

[32] Kings Coll London, London, England

[33] Massachusetts Gen Hosp, Lurie Ctr Autism, Lexington, MA USA

[34] Wake Forest Atrium Hlth, Dept Med, Charlotte, NC USA

[35] Florida Canc Specialists & Res Inst, Genet Lab, Ft Myers, FL USA

[36] Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, Italy

[37] Icahn Sch Med Mt Sinai, Kravis Childrens Hosp, Dept Pediat, New York, NY USA

[38] RCR Genet, Greer, SC USA

[39] Massachusetts Gen Hosp, Dept Pediat, Boston, MA USA

[40] Access Behav Anal, Indianapolis, IN USA

[41] Washington Univ, Dept Pediat, Sch Med, St Louis, MO USA

[42] Riley Childrens Hlth, Dept Med & Mol Genet, Indianapolis, IN USA

[43] Lifebridge Hlth, Sinai Rehabil Ctr, Baltimore, MD USA

[44] Ohio State Univ, Dept Pediat, Sch Med, Columbus, OH USA

[45] Emerson Hlth, Concord, MA USA

[46] Massachusetts Gen Hosp, Boston, MA USA

[47] Icahn Sch Med Mt Sinai, One Gustave L Levy Pl,Box 1230, New York, NY 10029 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2023年 / 191卷 / 08期

基金：

美国国家卫生研究院;

关键词：

assessment; autism spectrum disorder; monitoring; Phelan-McDermid syndrome; SHANK3; treatment; 22Q13 DELETION SYNDROME; SCAFFOLDING PROTEIN SHANK3; MOLECULAR CHARACTERIZATION; BEHAVIORAL INTERVENTION; CHILDREN; SPECTRUM; GENES; MUTATIONS; RING; METAANALYSIS;

D O I：

10.1002/ajmg.a.63312

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale genotype-phenotype investigations. The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific guidelines based on iterative feedback and discussion. Taskforce leaders then established consensus within their respective specialty group and harmonized the guidelines. The knowledge gained over the past decade allows for improved guidelines to assess and monitor individuals with PMS. Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainly from caregiver report and the experience of clinical experts. These updated consensus guidelines on the management of PMS represent an advance for the field and will improve care in the community. Several areas for future research are also highlighted and will contribute to subsequent updates with more refined and specific recommendations as new knowledge accumulates.

引用

页码：2015 / 2044

页数：30

共 138 条

[11] Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders [J].

Boccuto, Luigi ;

Lauri, Maria ;

Sarasua, Sara M. ;

Skinner, Cindy D. ;

Buccella, Daniela ;

Dwivedi, Alka ;

Orteschi, Daniela ;

Collins, Julianne S. ;

Zollino, Marcella ;

Visconti, Paola ;

DuPont, Barb ;

Tiziano, Danilo ;

Schroer, Richard J. ;

Neri, Giovanni ;

Stevenson, Roger E. ;

Gurrieri, Fiorella ;

Schwartz, Charles E. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (03) :310-316

[12] Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome [J].

Bonaglia, M. C. ;

Giorda, R. ;

Mani, E. ;

Aceti, G. ;

Anderlid, B-M ;

Baroncini, A. ;

Pramparo, T. ;

Zuffardi, O. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (10) :822-828

[13] Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome [J].

Bonaglia, Maria Clara ;

Giorda, Roberto ;

Beri, Silvana ;

De Agostini, Cristina ;

Novara, Francesca ;

Fichera, Marco ;

Grillo, Lucia ;

Galesi, Ornella ;

Vetro, Annalisa ;

Ciccone, Roberto ;

Bonati, Maria Teresa ;

Giglio, Sabrina ;

Guerrini, Renzo ;

Osimani, Sara ;

Marelli, Susan ;

Zucca, Claudio ;

Grasso, Rita ;

Borgatti, Renato ;

Mani, Elisa ;

Motta, Cristina ;

Molteni, Massimo ;

Romano, Corrado ;

Greco, Donatella ;

Reitano, Santina ;

Baroncini, Anna ;

Lapi, Elisabetta ;

Cecconi, Antonella ;

Arrigo, Giulia ;

Patricelli, Maria Grazia ;

Pantaleoni, Chiara ;

D'Arrigo, Stefano ;

Riva, Daria ;

Sciacca, Francesca ;

Dalla Bernardina, Bernardo ;

Zoccante, Leonardo ;

Darra, Francesca ;

Termine, Cristiano ;

Maserati, Emanuela ;

Bigoni, Stefania ;

Priolo, Emanuela ;

Bottani, Armand ;

Gimelli, Stefania ;

Bena, Frederique ;

Brusco, Alfredo ;

di Gregorio, Eleonora ;

Bagnasco, Irene ;

Giussani, Ursula ;

Nitsch, Lucio ;

Politi, Pierluigi ;

Luisa Martinez-Frias, Maria .

PLOS GENETICS, 2011, 7 (07)

[14] Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome [J].

Bonaglia, MC ;

Giorda, R ;

Borgatti, R ;

Felisari, G ;

Gagliardi, C ;

Selicorni, A ;

Zuffardi, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) :261-268

[15] Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy [J].

Bosch, Assumpcio ;

Estevez, Raul .

FRONTIERS IN CELLULAR NEUROSCIENCE, 2021, 14

[16]

Brignell A, 2021, EUR J HUM GENET, V29, P564, DOI 10.1038/s41431-020-00761-1

[17] Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning [J].

Bro, Della ;

O'Hara, Ruth ;

Primeau, Michelle ;

Hanson-Kahn, Andrea ;

Hallmayer, Joachim ;

Bernstein, Jonathan A. .

SLEEP, 2017, 40 (02)

[18] Practice guideline: Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology [J].

Buckley, Ashura Williams ;

Hirtz, Deborah ;

Oskoui, Maryam ;

Armstrong, Melissa J. ;

Batra, Anshu ;

Bridgemohan, Carolyn ;

Coury, Daniel ;

Dawson, Geraldine ;

Donley, Diane ;

Findling, Robert L. ;

Gaughan, Thomas ;

Gloss, David ;

Gronseth, Gary ;

Kessler, Riley ;

Merillat, Shannon ;

Michelson, David ;

Owens, Judith ;

Pringsheim, Tamara ;

Sikich, Linmarie ;

Stahmer, Aubyn ;

Thurm, Audrey ;

Tuchman, Roberto ;

Warren, Zachary ;

Wetherby, Amy ;

Wiznitzer, Max ;

Ashwal, Stephen .

NEUROLOGY, 2020, 94 (09) :392-404

[19] Characterisation of the clinical phenotype in Phelan-McDermid syndrome [J].

Burdeus-Olavarrieta, Monica ;

San Jose-Caceres, Antonia ;

Garcia-Alcon, Alicia ;

Gonzalez-Penas, Javier ;

Hernandez-Jusdado, Patricia ;

Parellada-Redondo, Mara .

JOURNAL OF NEURODEVELOPMENTAL DISORDERS, 2021, 13 (01)

[20] Description of a New Oncogenic Mechanism for Atypical Teratoid Rhabdoid Tumors in Patients with Ring Chromosome 22 [J].

Byers, Heather M. ;

Adam, Margaret P. ;

LaCroix, Amy ;

Leary, Sarah E. S. ;

Cole, Bonnie ;

Dobyns, William B. ;

Mefford, Heather C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (01) :245-249

← 1 2 3 4 5 6 7 8 9 10 →