Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism

Autor: Antonia San José Cáceres, Emma Wilkinson, Jennifer Cooke, Victoria Baskett, Charlotte Blackmore, Daisy Victoria Crawley, Allison Durkin, Danielle Halpern, María Núñez, Page Siper, Declan G. Murphy, Jennifer Foss-Feig, Alexander Kolevzon, Eva Loth

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-11 (2024)

Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is cur

Externí odkaz: https://doaj.org/article/f31d6024fcf54dcd95fb362bdf6d1b21

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Autor: Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals

Externí odkaz: https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706

Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome

Autor: Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results The Externally Led Patient-Foc

Externí odkaz: https://doaj.org/article/c76bfb9944134a169b74eae592f6de97

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

Autor: Siper, Paige M., Rowe, Mikaela A., Guillory, Sylvia B., Rouhandeh, Audrey A., George-Jones, Julia L., Tavassoli, Teresa, Lurie, Stacey, Zweifach, Jessica, Weissman, Jordana, Foss-Feig, Jennifer, Halpern, Danielle, Trelles, M. Pilar, Mulhern, Maureen S., Brittenham, Chloe, Gordon, James, Zemon, Vance, Buxbaum, Joseph D., Kolevzon, Alexander

Publikováno v: In Journal of the American Academy of Child & Adolescent Psychiatry April 2022 61(4):565-574

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Autor: Frazier TW; Department of Psychology, John Carroll University, University Heights, Ohio, USA.; Departments of Pediatrics and Psychiatry, SUNY Upstate Medical University, New York, New York, USA., Busch RM; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA., Klaas P; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA., Lachlan K; Human Genetics and Genomic Medicine, Faculty of Medicine, Southampton University and University Hospital Southampton NHS Foundation Trust, Southampton, UK., Jeste S; Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA., Kolevzon A; Departments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Loth E; Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience Kings College London, London, UK., Harris J; Department of Neurology Kennedy, Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Pepper T; PTEN Research Foundation, Cheltenham, UK., Anthony K; PTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA., Graglia JM; SYNGAP Research Fund, San Diego, California, USA., Helde K; SYNGAP Research Fund, San Diego, California, USA., Delagrammatikas C; Malan Syndrome Foundation, Old Bridge, New Jersey, USA., Bedrosian-Sermone S; ADNP Kids Research Foundation, Brush Prairie, Washington, USA., Smith-Hicks C; Department of Neurology Kennedy, Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Sahin M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Youngstrom EA; Institute for Mental and Behavioral Health Research and the Department of Psychiatry, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio, USA., Eng C; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA., Chetcuti L; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA., Hardan AY; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA., Uljarevic M; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.

Publikováno v: Autism research : official journal of the International Society for Autism Research [Autism Res] 2024 Dec 06. Date of Electronic Publication: 2024 Dec 06.