{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T19:10:05Z","timestamp":1748805005280,"version":"3.41.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,1]]},"DOI":"10.7759\/cureus.85197","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T18:29:53Z","timestamp":1748802593000},"source":"Crossref","is-referenced-by-count":0,"title":["A Proposal for Neurocognitive Assessment in Spanish-Speaking Adults With Phelan-McDermid Syndrome: A Case Report"],"prefix":"10.7759","author":[{"given":"Yvonne","family":"Flores Medina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aide\u00e9","family":"Gonzalez Gutierrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Jorge","family":"Palacios Casados","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario Alberto","family":"Puente Torres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Gutierrez Mora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1080\/13854046.2017.1413211","article-title":"Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome","volume":"32","author":"Soorya L","year":"2018","unstructured":"Soorya L, Leon J, Trelles MP, Thurm A. Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. Clin Neuropsychol. 2018, 32:1226-55. 10.1080\/13854046.2017.1413211","journal-title":"Clin Neuropsychol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104754","article-title":"Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome","volume":"66","author":"Sch\u00f6n M","year":"2023","unstructured":"Sch\u00f6n M, Lapunzina P, Nevado J, et al.. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. Eur J Med Genet. 2023, 66:104754. 10.1016\/j.ejmg.2023.104754","journal-title":"Eur J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.893003","article-title":"Descriptive analysis of adaptive behavior in Phelan-McDermid syndrome and autism spectrum disorder","volume":"16","author":"Serrada-Tejeda S","year":"2022","unstructured":"Serrada-Tejeda S, Mart\u00ednez-Pi\u00e9drola RM, M\u00e1ximo-Bocanegra N, S\u00e1nchez-Herrera-Baeza P, P\u00e9rez-de-Heredia-Torres M. Descriptive analysis of adaptive behavior in Phelan-McDermid syndrome and autism spectrum disorder. Front Neurosci. 2022, 16:893003. 10.3389\/fnins.2022.893003","journal-title":"Front Neurosci"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14503","article-title":"Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome","volume":"105","author":"Mitz AR","year":"2024","unstructured":"Mitz AR, Boccuto L, Thurm A. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. Clin Genet. 2024, 105:459-69. 10.1111\/cge.14503","journal-title":"Clin Genet"},{"key":"ref5","article-title":"Peabody Picture Vocabulary Test-III-NL","author":"Dunn LM","year":"2021","unstructured":"Dunn LM, Dunn LM. Peabody Picture Vocabulary Test-III-NL. Pearson Benelux B.V., Amsterdam, Netherlands; 2021."},{"key":"ref6","article-title":"Reynell Developmental Language Scales III","author":"Edwards S","year":"1997","unstructured":"Edwards S, Reynell J. Reynell Developmental Language Scales III. NFER-Nelson Health & Social Care, Windsor, UK; 1997."},{"key":"ref7","article-title":"","author":"Roth RM","year":"2005","unstructured":"Roth RM. BRIEF-A. Psychological Assessment Resources, Inc, Lutz, FL; 2005."},{"key":"ref8","article-title":"ABAS-II. Adaptive Behavior Assessment System","author":"Montero Centeno D","year":"2013","unstructured":"Montero Centeno D, Fern\u00e1ndez-Pinto I. ABAS-II. Adaptive Behavior Assessment System. TEA Ediciones, Madrid, Spain; 2013."},{"key":"ref9","article-title":"Programa integrado de exploraci\u00f3n neuropsicol\u00f3gica: Test Barcelona-2","author":"Pe\u00f1a-Cassanova J","year":"2019","unstructured":"Pe\u00f1a-Cassanova J, C\u00e1ceres-Guill\u00e9n I. Programa integrado de exploraci\u00f3n neuropsicol\u00f3gica: Test Barcelona-2. Test-Barcelona Services, S.L., Barcelona, Spain; 2019."},{"key":"ref10","article-title":"Pictures of Facial Affect","author":"Ekman P","year":"1976","unstructured":"Ekman P, Friesen WV. Pictures of Facial Affect. Consulting Psychologists' Press, Palo Alto, CA; 1976."},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1780","article-title":"Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation","volume":"9","author":"Kankuri-Tammilehto M","year":"2021","unstructured":"Kankuri-Tammilehto M, Sauna-Aho O, Arvio M. Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation. Mol Genet Genomic Med. 2021, 9:e1780. 10.1002\/mgg3.1780","journal-title":"Mol Genet Genomic Med"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00761-1","article-title":"Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome","volume":"29","author":"Brignell A","year":"2021","unstructured":"Brignell A, Gu C, Holm A, Carrigg B, Sheppard DA, Amor DJ, Morgan AT. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome. Eur J Hum Genet. 2021, 29:564-74. 10.1038\/s41431-020-00761-1","journal-title":"Eur J Hum Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103751","article-title":"A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome","volume":"63","author":"Verhoeven WM","year":"2020","unstructured":"Verhoeven WM, Egger JI, de Leeuw N. A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome. Eur J Med Genet. 2020, 63:103751. 10.1016\/j.ejmg.2019.103751","journal-title":"Eur J Med Genet"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2584","article-title":"Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood","volume":"122","author":"Philippe A","year":"2008","unstructured":"Philippe A, Boddaert N, Vaivre-Douret L, et al.. Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics. 2008, 122:e376-82. 10.1542\/peds.2007-2584","journal-title":"Pediatrics"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104726","article-title":"Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome","volume":"66","author":"Walinga M","year":"2023","unstructured":"Walinga M, Jesse S, Alhambra N, Van Buggenhout G. Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome. Eur J Med Genet. 2023, 66:104726. 10.1016\/j.ejmg.2023.104726","journal-title":"Eur J Med Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhab399","article-title":"Abnormal whisker-dependent behaviors and altered cortico-hippocampal connectivity in Shank3b-\/- mice","volume":"32","author":"Balasco L","year":"2022","unstructured":"Balasco L, Pagani M, Pangrazzi L, et al.. Abnormal whisker-dependent behaviors and altered cortico-hippocampal connectivity in Shank3b-\/- mice. Cereb Cortex. 2022, 32:3042-56. 10.1093\/cercor\/bhab399","journal-title":"Cereb Cortex"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-022-00530-5","article-title":"Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach","volume":"14","author":"Bozhilova N","year":"2023","unstructured":"Bozhilova N, Welham A, Adams D, et al.. Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach. Mol Autism. 2023, 14:3. 10.1186\/s13229-022-00530-5","journal-title":"Mol Autism"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12285","article-title":"Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy","volume":"15","author":"Egger JI","year":"2016","unstructured":"Egger JI, Zwanenburg RJ, van Ravenswaaij-Arts CM, Kleefstra T, Verhoeven WM. Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. Genes Brain Behav. 2016, 15:395-404. 10.1111\/gbb.12285","journal-title":"Genes Brain Behav"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/aur.3145","article-title":"Is she still angry? Intact learning but no updating of facial expressions priors in autism","volume":"17","author":"Twito R","year":"2024","unstructured":"Twito R, Hadad BS, Szpiro S. Is she still angry? Intact learning but no updating of facial expressions priors in autism. Autism Res. 2024, 17:934-46. 10.1002\/aur.3145","journal-title":"Autism Res"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/358484-a-proposal-for-neurocognitive-assessment-in-spanish-speaking-adults-with-phelan-mcdermid-syndrome-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T18:29:54Z","timestamp":1748802594000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/358484-a-proposal-for-neurocognitive-assessment-in-spanish-speaking-adults-with-phelan-mcdermid-syndrome-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,1]]},"references-count":19,"URL":"https:\/\/doi.org\/10.7759\/cureus.85197","relation":{},"ISSN":["2168-8184"],"issn-type":[{"type":"print","value":"2168-8184"}],"subject":[],"published":{"date-parts":[[2025,6,1]]}}}