{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T08:41:43Z","timestamp":1793954503048,"version":"4.8.0"},"reference-count":117,"publisher":"Informa UK Limited","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and limitations of conventional cognitive and behavioral measurement strategies in 2\u201321-year-olds with Phelan-McDermid syndrome (PMS; N = 98), Tuberous Sclerosis Complex (TSC; N = 98), and PTEN Hamartoma Tumor syndrome (PHTS; N = 69). On average, intellectual disability (ID) severity was severe-to-profound in PMS, mild-to-moderate for TSC, and borderline (or absent) in PHTS. Severity of ID invalidated the use of many assessments, including standardized autism diagnostic measures. These results will inform trial planning for these and other similarly medically complex neurodevelopmental conditions.<\/jats:p>","DOI":"10.1352\/1944-7558-130.5.414","type":"journal-article","created":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:02:23Z","timestamp":1756252943000},"page":"414-437","source":"Crossref","is-referenced-by-count":2,"title":["Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints"],"prefix":"10.1080","volume":"130","author":[{"given":"Latha","family":"Valluripalli Soorya","sequence":"first","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille W.","family":"Brune","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristan A.","family":"Farmer","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith V.","family":"Ocampo","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie I.","family":"Berger","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Pearson","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn M.","family":"Busch","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Klaas","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige","family":"Siper","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristn","family":"Currans","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda C.","family":"Gulsrud","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Phillips","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajna","family":"Filip-Dhima","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"O\u2019Kelley","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Frazier","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tess","family":"Levy","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison L.","family":"Wainer","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig M.","family":"Powell","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon K.","family":"Warfield","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darcy A.","family":"Krueger","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Martina","family":"Bebin","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shafali S.","family":"Jeste","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Kolevzon","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Thurm","sequence":"additional","affiliation":[{"name":"Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn S"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Developmental Synaptopathies Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2025,8,27]]},"reference":[{"key":"2025082620021933100_i1944-7558-130-5-414-b01","first-page":"429","volume-title":"The use of psychological testing for treatment planning and outcomes assessment","author":"Achenbach,","year":"(1999)","edition":"2nd ed."},{"key":"2025082620021933100_i1944-7558-130-5-414-b02","volume-title":"The Aberrant Behavior Checklist\u2013Community Version","author":"Aman,","year":"(1994)"},{"key":"2025082620021933100_i1944-7558-130-5-414-b03","volume-title":"Aberrant Behavior Checklist manual","author":"Aman,","year":"(2017)","edition":"2nd ed."},{"key":"2025082620021933100_i1944-7558-130-5-414-b04","volume-title":"ICD-10-PCS 2019: The complete official codebook","author":"American Medical Association","year":"(2018)"},{"key":"2025082620021933100_i1944-7558-130-5-414-b05","doi-asserted-by":"crossref","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"(2013)","edition":"5th ed."},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b06","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00439-002-0713-7","article-title":"FISH-mapping of a 100-kb terminal 22q13 deletion","volume":"110","author":"Anderlid,","year":"(2002)","journal-title":"Human Genetics"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b07","article-title":"SHANK3 haploinsufficiency: A \u201ccommon\u201d but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders","volume":"4","author":"Betancur,","year":"(2013)","journal-title":"Molecular Autism"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b08","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1352\/1944-7558-116.5.331","article-title":"Convergent validity of the Mullen Scales of Early Learning and the Differential Ability Scales in children with autism spectrum disorders","volume":"116","author":"Bishop,","year":"(2011)","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b09","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1023\/A:1005596502855","article-title":"Varieties of repetitive behavior in autism: Comparisons to mental retardation","volume":"30","author":"Bodfish,","year":"(2000)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b10","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/gim.2013.1","article-title":"Cognitive characteristics of PTEN hamartoma tumor syndromes","volume":"15","author":"Busch,","year":"(2013)","journal-title":"Genetics in Medicine"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b11","article-title":"Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change","volume":"15","author":"Busch,","year":"(2023)","journal-title":"Journal of Neurodevelopmental Disorders"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b12","first-page":"251","article-title":"Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN","volume":"9","author":"Busch,","year":"(2019)","journal-title":"Translational Psychiatry"},{"issue":"(4)","key":"2025082620021933100_i1944-7558-130-5-414-b13","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations","volume":"42","author":"Butler,","year":"(2005)","journal-title":"Journal of Medical Genetics"},{"issue":"(12)","key":"2025082620021933100_i1944-7558-130-5-414-b14","doi-asserted-by":"crossref","first-page":"103596","DOI":"10.1016\/j.ejmg.2018.12.001","article-title":"Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience","volume":"62","author":"Ciaccio,","year":"(2019)","journal-title":"European Journal of Medical Genetics"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b15","doi-asserted-by":"crossref","first-page":"e210275","DOI":"10.1212\/WNL.0000000000210275","article-title":"Association of social determinants of health with genetic test request and completion rates in children with neurologic disorders","volume":"104","author":"Cole,","year":"(2025)","journal-title":"Neurology"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b16","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1186\/s13023-023-02729-y","article-title":"Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development","volume":"18","author":"Connor-Ahmad,","year":"(2023)","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2025082620021933100_i1944-7558-130-5-414-b17","volume-title":"The Social Responsiveness Scale","author":"Constantino,","year":"(2005)"},{"issue":"(13)","key":"2025082620021933100_i1944-7558-130-5-414-b18","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"Medical progress: The tuberous sclerosis complex","volume":"355","author":"Crino,","year":"(2006)","journal-title":"The New England Journal of Medicine"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b19","article-title":"Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics","volume":"14","author":"Cummings,","year":"(2022)","journal-title":"Journal of Neurodevelopmental Disorders"},{"issue":"(9639)","key":"2025082620021933100_i1944-7558-130-5-414-b20","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo,","year":"(2008)","journal-title":"The Lancet"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b21","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2011.06.013","article-title":"FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism","volume":"146","author":"Darnell,","year":"(2011)","journal-title":"Cell"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b22","doi-asserted-by":"crossref","first-page":"5S8","DOI":"10.1016\/S0929-693X(22)00284-6","article-title":"Tuberous sclerosis complex and epilepsy in infancy: Prevention and early diagnosis","volume":"29","author":"de Saint Martin,","year":"(2022)","journal-title":"Archives de Pediatrie"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b23","article-title":"International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)","volume":"15","author":"de Vries,","year":"(2023)","journal-title":"Journal of Neurodevelopmental Disorders"},{"issue":"(8)","key":"2025082620021933100_i1944-7558-130-5-414-b24","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1111\/1469-7610.00235","article-title":"Emotional and behavioral problems in children and adolescents with and without intellectual disability","volume":"43","author":"Dekker,","year":"(2002)","journal-title":"Journal of Child Psychology and Psychiatry and Allied Disciplines"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b25","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1158\/1078-0432.CCR-24-3819","article-title":"Cancer and overgrowth manifestations of PTEN hamartoma tumour syndrome: Management recommendations from the International PHTS Consensus Guidelines Working Group","volume":"31","author":"Dhawan,","year":"(2025)","journal-title":"Clinical Cancer Research"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b26","first-page":"917","article-title":"Neurodevelopmental profile and stages of regression in Phelan\u2013McDermid syndrome","volume":"65","author":"Dille,","year":"(2022)","journal-title":"Developmental Medicine and Child Neurology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b27","doi-asserted-by":"crossref","first-page":"Article 182","DOI":"10.3389\/fnins.2016.00182","article-title":"Editorial: Essential pathways and circuits of autism pathogenesis","volume":"10","author":"D\u00f6len,","year":"(2016)","journal-title":"Frontiers in Neuroscience"},{"key":"2025082620021933100_i1944-7558-130-5-414-b28","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.rasd.2018.11.009","article-title":"Measurement invariance of the child behavior checklist in children with autism spectrum disorder with and without intellectual disability: Follow-up study","volume":"58","author":"Dovgan,","year":"(2019)","journal-title":"Research in Autism Spectrum Disorders"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b29","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1007\/s11136-023-03543-6","article-title":"What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy","volume":"33","author":"Downs,","year":"(2024)","journal-title":"Quality of Life Research"},{"key":"2025082620021933100_i1944-7558-130-5-414-b30","volume-title":"Peabody Picture Vocabulary Test\u2013Fourth Edition (PPVT-4)","author":"Dunn,","year":"(2007)"},{"key":"2025082620021933100_i1944-7558-130-5-414-b31","volume-title":"Manual for the Developmental Behaviour Checklist: Primary Carer Version (DBC-P) and Teacher Version (DBC-T)","author":"Einfeld,","year":"(2002)","edition":"2nd ed."},{"issue":"1\u20132","key":"2025082620021933100_i1944-7558-130-5-414-b32","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ymgme.2022.09.001","article-title":"Increasing precision in the measurement of change in pediatric neurodegenerative disease. In","volume":"137","author":"Eisengart,","year":"(2022)","journal-title":"Molecular Genetics and Metabolism"},{"key":"2025082620021933100_i1944-7558-130-5-414-b33","volume-title":"Differential Ability Scales","author":"Elliott,","year":"(2007)","edition":"2nd Ed"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b34","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1111\/jir.12533","article-title":"Reliability of parent report measures of behaviour in children with Down syndrome","volume":"62","author":"Esbensen,","year":"(2018)","journal-title":"Journal of Intellectual Disability Research"},{"key":"2025082620021933100_i1944-7558-130-5-414-b35","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2019.03.003","article-title":"Tuberous sclerosis complex genotypes and developmental phenotype","volume":"96","author":"Farach,","year":"(2019)","journal-title":"Pediatric Neurology"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b36","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1111\/jir.12691","article-title":"Concordance of the Vineland Adaptive Behavior Scales, second and third editions","volume":"64","author":"Farmer,","year":"(2020)","journal-title":"Journal of Intellectual Disability Research"},{"key":"2025082620021933100_i1944-7558-130-5-414-b37","doi-asserted-by":"crossref","DOI":"10.1352\/1944-7558-130.5.362","article-title":"Retrospective reports of skill attainment and loss in Phelan-McDermid Syndrome","author":"Farmer,","year":"(2025)","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b38","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1080\/09297049.2015.1020775","article-title":"Concurrent validity of the Differential Ability Scales, Second Edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders","volume":"22","author":"Farmer,","year":"(2016)","journal-title":"Child Neuropsychology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b39","first-page":"1","volume-title":"International Review of Research in Developmental Disabilities","author":"Farmer,","year":"(2022)"},{"key":"2025082620021933100_i1944-7558-130-5-414-b40","article-title":"Which score for what? Operationalizing standardized cognitive test performance for the assessment of change","author":"Farmer,","year":"(2024)","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b41","doi-asserted-by":"crossref","first-page":"Article 4","DOI":"10.1186\/s11689-022-09474-6","article-title":"Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study","volume":"15","author":"Farmer,","year":"(2023)","journal-title":"Journal of Neurodevelopmental Disorders"},{"key":"2025082620021933100_i1944-7558-130-5-414-b42","unstructured":"Food and Drug Administration.\n           (2019, March). Rare diseases: Natural history studies for drug development. U.S. Department of Health and Human Services. https:\/\/www.fda.gov\/regulatory-information\/search-fda-guidance-documents\/rare-diseases-natural-history-studies-drug-development"},{"key":"2025082620021933100_i1944-7558-130-5-414-b43","unstructured":"Food and Drug Administration\n          . (2022, June). Patient-focused drug development: Selecting, developing, or modifying fit-for-purpose clinical outcome assessments. U.S. Department of Health and Human Services. https:\/\/www.fda.gov\/regulatory-information\/search-fda-guidance-documents\/patient-focused-drug-development-selecting-developing-or-modifying-fit-purpose-clinical-outcome"},{"key":"2025082620021933100_i1944-7558-130-5-414-b44","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2021.06.002","article-title":"The neurological manifestations of Phelan-McDermid syndrome","volume":"122","author":"Frank,","year":"(2021)","journal-title":"Pediatric Neurology"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b45","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1002\/ajmg.a.63195","article-title":"Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes","volume":"191","author":"Frazier,","year":"(2023)","journal-title":"American Journal of Medical Genetics, Part A"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b46","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1038\/mp.2014.125","article-title":"Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism","volume":"20","author":"Frazier,","year":"(2015)","journal-title":"Molecular Psychiatry"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b47","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/aur.3107","article-title":"Racial and ethnic disparities in the co-occurrence of intellectual disability and autism: Impact of incorporating measures of adaptive functioning","volume":"17","author":"Furnier,","year":"(2024)","journal-title":"Autism Research"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b48","doi-asserted-by":"crossref","first-page":"10678","DOI":"10.1038\/s41467-024-54022-6","article-title":"How measurement noise limits the accuracy of brain-behaviour predictions","volume":"15","author":"Gell,","year":"(2024)","journal-title":"Nature Communications"},{"issue":"(8)","key":"2025082620021933100_i1944-7558-130-5-414-b49","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1002\/aur.2299","article-title":"Psychometric study of the Social Responsiveness Scale in Phelan\u2013McDermid syndrome","volume":"13","author":"Gergoudis,","year":"(2020)","journal-title":"Autism Research"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b50","doi-asserted-by":"crossref","first-page":"Article 134","DOI":"10.1186\/s13023-024-03141-w","article-title":"Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome","volume":"19","author":"Gizzo,","year":"(2024)","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b51","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1212\/01.wnl.0000168908.78118.99","article-title":"Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex","volume":"65","author":"Goh,","year":"(2005)","journal-title":"Neurology"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b52","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/jmedgenet-2016-104484","article-title":"A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children","volume":"54","author":"Hansen-Kiss,","year":"(2017)","journal-title":"Journal of Medical Genetics"},{"issue":"(12)","key":"2025082620021933100_i1944-7558-130-5-414-b53","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.jaac.2016.09.490","article-title":"Multidimensional influences on autism symptom measures: Implications for use in etiological research","volume":"55","author":"Havdahl,","year":"(2016)","journal-title":"Journal of the American Academy of Child and Adolescent Psychiatry"},{"key":"2025082620021933100_i1944-7558-130-5-414-b54","doi-asserted-by":"crossref","first-page":"26330040241249762","DOI":"10.1177\/26330040241249762","article-title":"Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials","volume":"18","author":"Hecker,","year":"(2024)","journal-title":"Therapeutic Advances in Rare Disease"},{"key":"2025082620021933100_i1944-7558-130-5-414-b55","unstructured":"Ho,\n              C. N.\n            ,\nRushing,G.,\nValentine,J. E.,\nRosbeck,K. L., & Roberds,S. L.\n          (2017). The voice of the patient: A report from the Tuberous Sclerosis Alliance\u2019s externally-led patient-focused drug development meeting. Tuberous Sclerosis Alliance. https:\/\/www.tscalliance.org\/wp-content\/uploads\/2018\/01\/Voice-of-the-Patient-Tuberous-Sclerosis-Alliance.pdf"},{"issue":"(10)","key":"2025082620021933100_i1944-7558-130-5-414-b56","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/GIM.0b013e3181ac9aea","article-title":"PTEN hamartoma tumor syndrome: An overview","volume":"11","author":"Hobert,","year":"(2009)","journal-title":"Genetics in Medicine"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b57","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.1469-7610.2012.02589.x","article-title":"Factors influencing scores on the Social Responsiveness Scale","volume":"54","author":"Hus,","year":"(2013)","journal-title":"Journal of Child Psychology and Psychiatry and Allied Disciplines"},{"issue":"(12)","key":"2025082620021933100_i1944-7558-130-5-414-b58","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1212\/01.wnl.0000280578.99900.96","article-title":"Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations","volume":"70","author":"Jansen,","year":"(2008)","journal-title":"Neurology"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b59","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1017\/S0033291702007092","article-title":"Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex","volume":"33","author":"Joinson,","year":"(2003)","journal-title":"Psychological Medicine"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b60","doi-asserted-by":"crossref","first-page":"3276","DOI":"10.1007\/s10803-019-04148-0","article-title":"Improving the diagnosis of autism spectrum disorder in Fragile X Syndrome by adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2","volume":"50","author":"Kidd,","year":"(2020)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b61","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1007\/s10803-012-1696-4","article-title":"Multisite study of new autism diagnostic interview-revised (ADI-R) algorithms for toddlers and young preschoolers","volume":"43","author":"Kim,","year":"(2013)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b62","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s11689-020-9309-6","article-title":"Psychiatric illness and regression in individuals with Phelan-McDermid syndrome","volume":"12","author":"Kohlenberg,","year":"(2020)","journal-title":"Journal of Neurodevelopmental Disorders"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b63","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13229-019-0291-3","article-title":"Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: A systematic review of the literature","volume":"10","author":"Kolevzon,","year":"(2019)","journal-title":"Molecular Autism"},{"issue":"(4)","key":"2025082620021933100_i1944-7558-130-5-414-b64","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.ridd.2003.12.001","article-title":"CBCL in the assessment of psychopathology in Finnish children with intellectual disability","volume":"25","author":"Koskentausta,","year":"(2004)","journal-title":"Research in Developmental Disabilities"},{"issue":"(4)","key":"2025082620021933100_i1944-7558-130-5-414-b65","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","article-title":"Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference","volume":"49","author":"Krueger,","year":"(2013)","journal-title":"Pediatric Neurology"},{"issue":"(11)","key":"2025082620021933100_i1944-7558-130-5-414-b66","doi-asserted-by":"crossref","first-page":"4268","DOI":"10.1044\/2022_JSLHR-22-00122","article-title":"Measuring change during intervention using norm-referenced, standardized measures: A comparison of raw scores, standard scores, age equivalents, and growth scale values from the Preschool Language Scales\u2013Fifth Edition","volume":"65","author":"Kwok,","year":"(2022)","journal-title":"Journal of Speech, Language, and Hearing Research"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b67","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1007\/s10803-006-0213-z","article-title":"The repetitive behavior scale-revised: Independent validation in individuals with autism spectrum disorders","volume":"37","author":"Lam,","year":"(2007)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b68","doi-asserted-by":"crossref","first-page":"104771","DOI":"10.1016\/j.ejmg.2023.104771","article-title":"Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey","volume":"66","author":"Landlust,","year":"(2023)","journal-title":"European Journal of Medical Genetics"},{"key":"2025082620021933100_i1944-7558-130-5-414-b69","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.pediatrneurol.2023.03.015","article-title":"Epilepsy severity is associated with head circumference and growth rate in infants with Tuberous Sclerosis Complex","volume":"144","author":"Levine,","year":"(2023)","journal-title":"Pediatric Neurology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b70","article-title":"Genetic subtypes of Phelan-McDermid syndrome exhibit similar rates of change despite differences in level of impairment in developmental constructs","author":"Levy,","year":"(2024)","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"(4)","key":"2025082620021933100_i1944-7558-130-5-414-b71","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1093\/hmg\/ddab280","article-title":"Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the Developmental Synaptopathies Consortium","volume":"31","author":"Levy,","year":"(2022)","journal-title":"Human Molecular Genetics"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b72","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s11689-024-09541-0","article-title":"Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome","volume":"16","author":"Levy,","year":"(2024)","journal-title":"Journal of Neurodevelopmental Disorders"},{"key":"2025082620021933100_i1944-7558-130-5-414-b73","volume-title":"Autism Diagnostic Observation Schedule","author":"Lord,","year":"(2012)","edition":"Second Edition"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b74","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/1097-0355(199323)14:3<234::AID-IMHJ2280140308>3.0.CO;2-F","article-title":"Using the ADI-R to diagnose autism in preschool children","volume":"14","author":"Lord,","year":"(1993)","journal-title":"Infant Mental Health Journal"},{"key":"2025082620021933100_i1944-7558-130-5-414-b75","first-page":"2241","volume-title":"Journal of Autism and Developmental Disorders","author":"Lyall,","year":"(2021)"},{"issue":"(4)","key":"2025082620021933100_i1944-7558-130-5-414-b76","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0962-8924(99)01519-6","article-title":"PTEN: A tumour suppressor that functions as a phospholipid phosphatase","volume":"9","author":"Maehama,","year":"(1999)","journal-title":"Trends in Cell Biology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b77","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1146\/annurev.biochem.70.1.247","article-title":"PTEN and myotubularin: Novel phosphoinositide phosphatases","volume":"70","author":"Maehama,","year":"(2001)","journal-title":"Annual Review of Biochemistry"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b78","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/BF01048240","article-title":"Factor validity and norms for the aberrant behavior checklist in a community sample of children with mental retardation","volume":"22","author":"Marshburn,","year":"(1992)","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"2025082620021933100_i1944-7558-130-5-414-b79","volume-title":"Mullen Scales of Early Learning","author":"Mullen,","year":"(1995)"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b80","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1186\/s12916-023-03012-4","article-title":"Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM","volume":"21","author":"M\u00fcller,","year":"(2023)","journal-title":"BMC Medicine"},{"key":"2025082620021933100_i1944-7558-130-5-414-b81","unstructured":"National Organization of Rare Disorders\n          . (2023, November 7). PTEN Hamartoma Tumor Syndrome. https:\/\/rarediseases.org\/rare-diseases\/pten-hamartoma-tumor-syndrome"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b82","doi-asserted-by":"crossref","first-page":"2380","DOI":"10.1038\/s41380-022-01506-w","article-title":"Genetics of glutamate and its receptors in autism spectrum disorder","volume":"27","author":"Nisar,","year":"(2022)","journal-title":"In Molecular Psychiatry"},{"key":"2025082620021933100_i1944-7558-130-5-414-b83","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Updated international Tuberous Sclerosis Complex diagnostic criteria and surveillance and management recommendations","volume":"123","author":"Northrup,","year":"(2021)","journal-title":"Pediatric Neurology"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b84","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/s13023-015-0323-9","article-title":"Autism spectrum disorder in Phelan-McDermid syndrome: Initial characterization and genotype-phenotype correlations","volume":"10","author":"Oberman,","year":"(2015)","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"(9114)","key":"2025082620021933100_i1944-7558-130-5-414-b85","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","article-title":"Prevalence of tuberous sclerosis estimated by capture-recapture analysis","volume":"351","author":"O\u2019Callaghan,","year":"(1998)","journal-title":"Lancet"},{"key":"2025082620021933100_i1944-7558-130-5-414-b86","doi-asserted-by":"crossref","first-page":"104054","DOI":"10.1016\/j.actpsy.2023.104054","article-title":"Examining the validity of the use of ratio IQs in psychological assessments","volume":"240","author":"Ostrolenk,","year":"(2023)","journal-title":"Acta Psychologica"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b87","first-page":"987","article-title":"Confirmatory factor analysis of the Child Behavior Checklist 1.5-5 in a sample of children with autism spectrum disorders","volume":"39","author":"Pandolfi,","year":"(2009)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"3\u20135","key":"2025082620021933100_i1944-7558-130-5-414-b88","first-page":"186","article-title":"The 22q13.3 deletion syndrome (Phelan-McDermid syndrome)","volume":"2","author":"Phelan,","year":"(2012)","journal-title":"Molecular Syndromology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b89","doi-asserted-by":"crossref","first-page":"101983","DOI":"10.1016\/j.rasd.2022.101983","article-title":"Subgrouping school-aged children on the autism spectrum based on co-occurring psychiatric symptoms","volume":"95","author":"Piergies,","year":"(2022)","journal-title":"Research in Autism Spectrum Disorders"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b90","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1097\/01.chi.0000227880.42780.0e","article-title":"Combining information from multiple sources in the diagnosis of autism spectrum disorders","volume":"45","author":"Risi,","year":"(2006)","journal-title":"Journal of the American Academy of Child and Adolescent Psychiatry"},{"key":"2025082620021933100_i1944-7558-130-5-414-b91","author":"Roid,","year":"(2012)","edition":"5th Edition)."},{"key":"2025082620021933100_i1944-7558-130-5-414-b92","volume-title":"ADI-R Autism Diagnostic Interview Revised","author":"Rutter,","year":"(2003)"},{"issue":"(6263)","key":"2025082620021933100_i1944-7558-130-5-414-b93","article-title":"Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders","volume":"350","author":"Sahin,","year":"(2015)","journal-title":"Science"},{"issue":"(86)","key":"2025082620021933100_i1944-7558-130-5-414-b94","article-title":"Protein interactome reveals converging molecular pathways among autism disorders","volume":"3","author":"Sakai,","year":"(2011)","journal-title":"Science Translational Medicine"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b95","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0896-6273(01)00339-7","article-title":"Regulation of dendritic spine morphology and synaptic function by Shank and Homer","volume":"31","author":"Sala,","year":"(2001)","journal-title":"Neuron"},{"issue":"(10)","key":"2025082620021933100_i1944-7558-130-5-414-b96","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1038\/s41591-019-0581-5","article-title":"A framework for the investigation of rare genetic disorders in neuropsychiatry","volume":"25","author":"Sanders,","year":"(2019)","journal-title":"Nature Medicine"},{"issue":"(11)","key":"2025082620021933100_i1944-7558-130-5-414-b97","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmedgenet-2011-100225","article-title":"Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)","volume":"48","author":"Sarasua,","year":"(2011)","journal-title":"Journal of Medical Genetics"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b98","doi-asserted-by":"crossref","first-page":"504","DOI":"10.3390\/genes13030504","article-title":"Clinical and genetic aspects of Phelan\u2013McDermid syndrome: An interdisciplinary approach to management","volume":"13","author":"Scalisi,","year":"(2022)","journal-title":"Genes"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b99","doi-asserted-by":"crossref","first-page":"104754","DOI":"10.1016\/j.ejmg.2023.104754","article-title":"Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome","volume":"66","author":"Sch\u00f6n,","year":"(2023)","journal-title":"European Journal of Medical Genetics"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b100","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/2040-2392-4-18","article-title":"Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency","volume":"4","author":"Soorya,","year":"(2013)","journal-title":"Molecular Autism"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b101","doi-asserted-by":"crossref","first-page":"1226","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,","year":"(2018)","journal-title":"Clinical Neuropsychologist"},{"key":"2025082620021933100_i1944-7558-130-5-414-b102","volume-title":"Vineland-II: Vineland Adaptive Behavior Scales: Survey Forms Manual","author":"Sparrow,","year":"(2005)","edition":"2nd ed"},{"key":"2025082620021933100_i1944-7558-130-5-414-b103","doi-asserted-by":"crossref","first-page":"639","DOI":"10.3389\/fneur.2020.00639","article-title":"Autism and epilepsy in patients with tuberous sclerosis complex","volume":"11","author":"Specchio,","year":"(2020)","journal-title":"Frontiers in Neurology"},{"key":"2025082620021933100_i1944-7558-130-5-414-b104","article-title":"Longitudinal trajectory of adaptive skills in Phelan-McDermid Syndrome","author":"Srivastava,","year":"(2024)","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"(8)","key":"2025082620021933100_i1944-7558-130-5-414-b105","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1002\/ajmg.a.63312","article-title":"Updated consensus guidelines on the management of Phelan\u2013McDermid syndrome","volume":"91","author":"Srivastava,","year":"(2023)","journal-title":"American Journal of Medical Genetics, Part A"},{"issue":"(9)","key":"2025082620021933100_i1944-7558-130-5-414-b106","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1111\/jcpp.12731","article-title":"Development and validation of an item response theory-based Social Responsiveness Scale short form","volume":"58","author":"Sturm,","year":"(2017)","journal-title":"Journal of Child Psychology and Psychiatry, and Allied Disciplines"},{"key":"2025082620021933100_i1944-7558-130-5-414-b107","doi-asserted-by":"crossref","first-page":"108955","DOI":"10.1016\/j.yebeh.2022.108955","article-title":"Interim results of adaptive functioning and neurodevelopment in BUTTERFLY\u2014An observational study of children and adolescents with Dravet syndrome","volume":"137","author":"Sullivan,","year":"(2022)","journal-title":"Epilepsy and Behavior"},{"key":"2025082620021933100_i1944-7558-130-5-414-b108","doi-asserted-by":"crossref","first-page":"526","DOI":"10.3389\/fpsyt.2019.00526","article-title":"State of the field: Differentiating intellectual disability from autism spectrum disorder","volume":"10","author":"Thurm,","year":"(2019)","journal-title":"Frontiers in Psychiatry"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b109","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/epi4.12111","article-title":"Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms","volume":"3","author":"Tye,","year":"(2018)","journal-title":"Epilepsia Open"},{"issue":"(7)","key":"2025082620021933100_i1944-7558-130-5-414-b110","doi-asserted-by":"crossref","first-page":"104747","DOI":"10.1016\/j.ejmg.2023.104747","article-title":"Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome","volume":"66","author":"van Eeghen,","year":"(2023)","journal-title":"European Journal of Medical Genetics"},{"issue":"(5)","key":"2025082620021933100_i1944-7558-130-5-414-b111","doi-asserted-by":"crossref","first-page":"104736","DOI":"10.1016\/j.ejmg.2023.104736","article-title":"Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome","volume":"66","author":"van Ravenswaaij-Arts,","year":"(2023)","journal-title":"European Journal of Medical Genetics"},{"issue":"(2)","key":"2025082620021933100_i1944-7558-130-5-414-b112","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1097\/GIM.0b013e31818fd762","article-title":"The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly","volume":"11","author":"Varga,","year":"(2009)","journal-title":"Genetics in Medicine"},{"key":"2025082620021933100_i1944-7558-130-5-414-b113","volume-title":"Expressive vocabulary test-second edition","author":"Williams,","year":"(2007)"},{"issue":"(8)","key":"2025082620021933100_i1944-7558-130-5-414-b114","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmg.40.8.575","article-title":"Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3\/PROSAP2 in the major neurological symptoms","volume":"40","author":"Wilson,","year":"(2003)","journal-title":"Journal of Medical Genetics"},{"key":"2025082620021933100_i1944-7558-130-5-414-b115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-neuro-080317-061747","article-title":"Abnormal mTOR activation in autism","volume":"41","author":"Winden,","year":"(2018)","journal-title":"Annual Review of Neuroscience"},{"issue":"(1)","key":"2025082620021933100_i1944-7558-130-5-414-b116","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1186\/s13023-020-01592-5","article-title":"A 29 Mainland Chinese cohort of patients with Phelan\u2013McDermid syndrome: genotype\u2013phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes","volume":"15","author":"Xu,","year":"(2020)","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"(3)","key":"2025082620021933100_i1944-7558-130-5-414-b117","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1177\/0883073812446485","article-title":"Vigabatrin and mental retardation in tuberous sclerosis: Infantile spasms versus focal seizures","volume":"28","author":"Yum,","year":"(2013)","journal-title":"Journal of Child Neurology"}],"container-title":["American Journal on Intellectual and Developmental Disabilities"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/130\/5\/414\/3535802\/i1944-7558-130-5-414.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/130\/5\/414\/3535802\/i1944-7558-130-5-414.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:35:19Z","timestamp":1768322119000},"score":1,"resource":{"primary":{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article\/130\/5\/414\/507707\/Characterizing-Developmental-and-Behavioral"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,27]]},"references-count":117,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,8,27]]},"published-print":{"date-parts":[[2025,9,1]]}},"URL":"https:\/\/doi.org\/10.1352\/1944-7558-130.5.414","relation":{},"ISSN":["1944-7558","1944-7515"],"issn-type":[{"value":"1944-7558","type":"electronic"},{"value":"1944-7515","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8,27]]}}}