Ajidd-American Journal on Intellectual and Developmental Disabilities最新文献

{"title":"Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.","authors":"Tess Levy, Cristan Farmer, Siddharth Srivastava, Kristina Johnson, Jadyn Trayvick, Camille Brune, Alexandra Massa, Hailey Silver, Paige M Siper, Jessica Zweifach, Danielle Halpern, Jennifer H Foss-Feig, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Mustafa Sahin, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Alexander Kolevzon","doi":"10.1352/1944-7558.130.5.395","DOIUrl":"https://doi.org/10.1352/1944-7558.130.5.395","url":null,"abstract":"<p><p>The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability, with strong associations between genotype and phenotype observed with degree of intellectual disability and presence of specific medical features such as renal abnormalities. To date, no studies have assessed how genotype is associated with the natural history of developmental or behavioral features in PMS over time. Here, we report on longitudinal data in developmental and behavioral domains from 154 individuals with PMS, comparing those with Class 1 (minimal) deletions, Class 2 deletions, and sequence variants, assessing both within-subject (individual change over time) and between-subject (across age) differences. Consistent with previous results, average scores per group differed in most adaptive and developmental domains, with individuals with Class 1 deletions performing best, followed by individuals with Class 2 deletions and sequence variants, who often performed similarly. However, in most domains of adaptive behavior, intellectual functioning, and behavioral features, genetic groups did not differ in their rate of change over time or in differences in scores across ages. Exceptions, notably in expressive language, existed. These results suggest that, although genotype may be related to overall degree of impairment, individuals with PMS, regardless of genotype, tend to have a similar rate of change over time and age in developmental and behavioral domains. A significant caveat is that sequencing is a relatively recent diagnostic approach, which will bias the results.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"395-413"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.","authors":"Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, Edith V Ocampo, Natalie I Berger, Deborah A Pearson, Robyn M Busch, Patricia Klaas, Paige Siper, Kristn Currans, Amanda C Gulsrud, Jennifer M Phillips, Rajna Filip-Dhima, Sarah E O'Kelley, Thomas W Frazier, Tess Levy, Allison L Wainer, Joseph D Buxbaum, Craig M Powell, Jonathan A Bernstein, Simon K Warfield, Darcy A Krueger, E Martina Bebin, Hope Northrup, Shafali S Jeste, Alexander Kolevzon, Elizabeth Berry-Kravis, Mustafa Sahin, Siddharth Srivastava, Audrey Thurm","doi":"10.1352/1944-7558-130.5.414","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.414","url":null,"abstract":"<p><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 2-21-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.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"414-437"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.","authors":"Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, Latha Valluripalli Soorya, Mustafa Sahin, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Jonathan A Bernstein, Audrey Thurm","doi":"10.1352/1944-7558-130.5.362","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.362","url":null,"abstract":"<p><p>Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental Synaptopathies Consortium natural history study (N = 207). Across studies, an overwhelming proportion of people with PMS were reported to have delays in acquiring basic skills, and regression or loss of skills was commonly reported across multiple developmental domains, including some after the age of 10. The current descriptive study synthesizes two complementary data sources showing loss occurring in the context of significant delays and frequent lack of milestone attainment in people with PMS. Further work to elucidate mechanisms is needed.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"362-379"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change.","authors":"Cristan Farmer, Audrey Thurm, Tanvi Das, E Martina Bebin, Jonathan A Bernstein, Elizabeth Berry-Kravis, Joseph D Buxbaum, Charis Eng, Thomas Frazier, Antonio Y Hardan, Alexander Kolevzon, Darcy A Krueger, Julian A Martinez-Agosto, Hope Northrup, Craig M Powell, Latha Valluripalli Soorya, Joyce Y Wu, Mustafa Sahin","doi":"10.1352/1944-7558-130.5.344","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.344","url":null,"abstract":"<p><p>Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are intended for the assessment of within-individual change. Here we illustrate the use and interpretation of several Stanford Binet, 5th Edition score types (IQ, extended IQ, Z-normalized raw score, developmental quotient, raw sum score, age equivalent, and ability score) using data from two longitudinal studies of rare genetic conditions associated with IDD. We found that, although normality assumptions were tenuous for all score types, floor effects led to model unsuitability for longitudinal analysis of most types of norm-referenced scores, and that the validity of interpretation with respect to individual change was best for ability scores.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"344-361"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction to the Special Issue on Phenotypic Explorations of Phelan McDermid Syndrome and Other Developmental Synaptopathies.","authors":"Frank J Symons","doi":"10.1352/1944-7558-130.5.341","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.341","url":null,"abstract":"","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"341"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scientists Can Do Better Including Those With Intellectual Disability in Clinical Trials.","authors":"Alycia Halladay","doi":"10.1352/1944-7558-130.5.342","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.342","url":null,"abstract":"","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"342-343"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome.","authors":"Siddharth Srivastava, Kristina Johnson, Cristan Farmer, Tess Levy, Audrey Thurm, Latha Valluripalli Soorya, Rajna Filip-Dhima, Aisling Quinlan, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon","doi":"10.1352/1944-7558-130.5.380","DOIUrl":"https://doi.org/10.1352/1944-7558-130.5.380","url":null,"abstract":"<p><p>Phelan-McDermid syndrome (PMS), caused by SHANK3 haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland Adaptive Behavior Scales, Second Edition domain-level standard scores and subdomain-level growth scale values (GSVs) obtained at baseline, 12 months, and 24 months. We assessed within-subject time effects and cross-sectional age effects using linear mixed effects models. This sample included 99 participants (baseline age = 8.83 ± 4.58 years). Within-subject standard scores decreased/remained constant for all domains: Communication (slope of within-subject mean-centered age = -0.33 [95% CI -1.08, 0.41]; p = 0.38), Socialization (-1.25 [-1.95, -0.56]; p < 0.001), and Daily Living Skills (-0.35 [-1.37, 0.67]; p = 0.50). However, subdomain GSVs showed within-subject growth across several categories. Receptive (5.26 [2.49, 8.02]; p < 0.001) and Written (2.79 [1.11, 4.47]; p = 0.001) Communication GSVs increased. Personal (1.84 [0.81, 2.86]; p < 0.001) and Domestic (2.31 [0.98, 3.64]; p < 0.001) Daily Living Skills GSVs increased. Socialization subdomain GSVs did not change. PMS is characterized by impaired adaptive behavior and slow, small gains in communication and daily living, but not socialization skills, as measured by subdomain GSVs. Unlike standard scores, measuring performance compared to same-age peers, GSVs quantify an individual's progress, emphasizing the need for GSVs in interpreting developmental changes in PMS.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"380-394"},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Team Science in Precision Medicine Research:The Case for Inclusion of Adults With Intellectual Disability.","authors":"Maya Sabatello, Katherine E McDonald","doi":"10.1352/1944-7558-130.3.171","DOIUrl":"10.1352/1944-7558-130.3.171","url":null,"abstract":"<p><p>The inclusion of adults with intellectual disability (ID) in precision medicine research has scientific, public health, and social justice justifications. Yet there is an indication that this population is excluded from general (i.e., nondisability specific) health research, including precision medicine research. Adults with ID are thus unlikely to reap the benefits emerging from such scientific endeavors-today and in the future. In this commentary, we explore key issues in research ethics, including cohort diversity, the principle of justice, and consent, and discuss their ramifications for adults with ID and precision medicine researchers. We call for endorsing team science collaboration and community engagement to promote health equity for adults with ID and disability justice in precision medicine research.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 3","pages":"171-177"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12124407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Executive and Social Functioning in Fetal Alcohol Spectrum Disorders: Comparison to Autism.","authors":"Natalie H Stagnone, John C Thorne, Julia T Mattson, Sara T Kover","doi":"10.1352/1944-7558-130.3.209","DOIUrl":"https://doi.org/10.1352/1944-7558-130.3.209","url":null,"abstract":"<p><p>Executive function is an area of challenge for both children with fetal alcohol spectrum disorders (FASD) and children with autism spectrum disorder (ASD). Parent ratings of everyday executive function relate to a range of outcomes, including social functioning in ASD. Comparisons between FASD and ASD have revealed both overlapping and distinct skills, but have not addressed executive function or its relation to social function. Utilizing parent report, the current study addressed relative strengths and weaknesses across scales of everyday executive function, as well as group differences between FASD and ASD. The association between executive function and social function was also evaluated. Participants with FASD (n = 23) and ASD (n = 18) were preschool and school-age children whose caregivers completed the Behavior Rating Inventory of Executive Function (BRIEF, BRIEF-2, or BRIEF-P) and the Social Responsiveness Scale, Second Edition. For both groups and all examined executive function scales, scores exceeded the normative mean, indicating challenges. The groups differed significantly on only one executive function scale: working memory. In both groups, executive function was positively correlated with social functioning, even when controlling for nonverbal IQ. The current findings highlight an overlapping association between executive function and social function in FASD and ASD.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 3","pages":"209-227"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modeling the Latent Factor Structure of the \"EXcEEDS\" (EXecutive function Early Evaluation in Down Syndrome) Battery.","authors":"Kaylyn Van Deusen, Mark A Prince, Madison M Walsh, Lina R Patel, Miranda E Pinks, Anna J Esbensen, Angela John Thurman, Leonard Abbeduto, Courtney Oser, Lisa A Daunhauer, Deborah J Fidler","doi":"10.1352/1944-7558-130.3.195","DOIUrl":"https://doi.org/10.1352/1944-7558-130.3.195","url":null,"abstract":"<p><p>Executive function (EF) is frequently an area of vulnerability in conditions associated with intellectual disability, like Down syndrome (DS). However, current EF evaluation approaches are not designed for children with underlying neurodevelopmental conditions and may not demonstrate construct validity due to interpretational confounds. The current study evaluated the construct validity of a novel battery designed to reduce measurement confounds in the assessment of EF in young children with DS. Participants were 124 children with DS (ages 2 to 8 years) who completed a set of adapted EF tasks. Exploratory graph analysis demonstrated that a two-factor solution (an Inhibition factor and a Working Memory/Flexibility factor) was the best fit for the data, providing evidence of construct validity for the adapted EF battery.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 3","pages":"195-208"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}