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

{"title":"An Exploratory Investigation of the Postsecondary STEM Opportunities for People With Intellectual and Developmental Disabilities in the United States.","authors":"Christina R Carnahan, Savannah S Stark, Diane Weinbrandt, Katherine M Norland, Emma DenBleyker","doi":"10.1352/1944-7558-130.6.458","DOIUrl":"10.1352/1944-7558-130.6.458","url":null,"abstract":"<p><p>This study investigates the alignment of Postsecondary Education (PSE) programs with Science, Technology, Engineering, and Math (STEM) career demands for people with intellectual and developmental disabilities (IDD) in the United States. Using a mixed methods design to explore what programs are offering STEM opportunities, a national survey was conducted with 56 PSE representatives, revealing 14 programs offering STEM experiences. Follow-up interviews provided insights into STEM pathways in these identified programs, emphasizing access to STEM for students with IDD, instruction on STEM skills and knowledge, support provided in STEM pathways, and the role of bias as a barrier to inclusion. The findings offer directions for future research on integrating STEM instruction and technical training in PSE programs for students with IDD while addressing barriers and supporting people with IDD.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"458-474"},"PeriodicalIF":2.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379623","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":"FMR1 Premutation Carrier Mothers' Daily Negative Affect and Cortisol: Probing the Impacts of Stress Exposure, Coping Style, and CGG Repeats.","authors":"Leann Smith DaWalt, Jinkuk Hong, Catherine Rogers Gaspar, Ashley Woodman, Elizabeth M Berry-Kravis, Marsha R Mailick","doi":"10.1352/1944-7558-130.6.512","DOIUrl":"10.1352/1944-7558-130.6.512","url":null,"abstract":"<p><p>This study utilized a daily diary methodology to investigate negative affect and cortisol secretion of mothers of adolescents and adults with fragile X syndrome (n = 104). We investigated whether coping style moderated the effects of child behavior problems on daily stress responses for these mothers and whether mothers with varying numbers of CGG repeats differed in the extent to which their coping style impacted daily outcomes. Results indicated that high levels of problem-focused coping buffered the effects of behavior problems on mothers' negative affect and cortisol secretion. There was a significant interaction between CGG repeat group and coping in predicting negative affect; mothers with midrange CGG repeats were less likely to benefit from coping than those who had fewer repeats.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"512-531"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379682","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":"Systematic Review of Intervention Programs Designed to Improve the Socioemotional Skills of Children and Adolescents With Prader-Willi Syndrome.","authors":"Ane Perosanz, Oscar Martínez, Néstor Roselli, Paula Pérez-Núñez, Samuel Anguiano, Juan Francisco López-Paz","doi":"10.1352/1944-7558-130.6.475","DOIUrl":"10.1352/1944-7558-130.6.475","url":null,"abstract":"<p><p>The present study is a systematic review of intervention programs designed to improve the socioemotional skills of children and adolescents with Prader-Willi syndrome (PWS). The search was conducted in the Web of Science and Pubmed databases following the PRISMA guidelines. A total of six studies made up the final sample and were organized based on the following psychological domains: social cognition and emotional competence. The findings suggest that these learning models may contribute to the development of socioemotional skills in children and adolescents with PWS. In addition, it appears that remote intervention through telehealth may be effective as a treatment option.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"475-489"},"PeriodicalIF":2.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379745","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":"Social Information Processing in Young People With Mild Level of Intellectual Development Disorder or Borderline Intellectual Functioning: Relationship With Real-World Expression of Executive Function Problems.","authors":"Kaëlig Raspail, Valérie Pennequin","doi":"10.1352/1944-7558-130.6.445","DOIUrl":"10.1352/1944-7558-130.6.445","url":null,"abstract":"<p><p>The aim of this study was to explore the relationship between the three main executive functions (i.e., inhibition, working memory, and flexibility) and three steps of social information processing model (SIP; Crick & Dodge, 1994). Participants were 42 young people (13 years old 5 months, SD = 28 months) with mild level of intellectual development disorder (MIDD) or borderline intellectual functioning (BIF). The youths' relatives completed a questionnaire on the behavioral expression of executive functions (BRIEF), and each participant watched a video of an ecological social situation, then answered questions relating to the SIP model. The results offer interesting insights into the link between encoding and inhibition, and the influence of the type of intention attribution on inhibition and working memory.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"445-457"},"PeriodicalIF":2.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379757","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":"Modified Cued Recall Test for the Diagnosis of Alzheimer's Disease in a Greek Sample of Adults With Down Syndrome: A Preliminary Study.","authors":"Raphaella Paradisi, Eleni Baldimtsi, Panagiotis Ntailakis, Georgios Ntritsos, Georgia Papantoniou, Anastasia Konsta, Magdalini Tsolaki","doi":"10.1352/1944-7558-130.6.503","DOIUrl":"10.1352/1944-7558-130.6.503","url":null,"abstract":"<p><p>Diagnosing Alzheimer's disease (AD) in adults with Down syndrome remains challenging due to preexisting intellectual disability (ID) and lack of specialized assessments. This was a cross-sectional multicenter study examining the capability of the Greek version of the modified Cued Recall Test (mCRT) to identify AD in DS adults. Analysis showed statistically significant negative correlations between age and scores on all mCRT measures. Statistically significant differences were detected between ID levels and all mCRT main scores and between the two diagnostic groups and performance at immediate and delayed recall. ROC analysis revealed an optimal cut-off score of 26.5 (0-36). In conclusion, mCRT is a highly sensitive tool for detecting AD in adults with DS.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"503-511"},"PeriodicalIF":2.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379641","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":"Comparing Indicators of Advocacy Ability and Service Access Between Latino and White Families of Transition-Aged Youth With Autism.","authors":"Meghan M Burke, Saury Ramos-Torres, Leann Smith DaWalt, Julie Lounds Taylor","doi":"10.1352/1944-7558-130.6.490","DOIUrl":"10.1352/1944-7558-130.6.490","url":null,"abstract":"<p><p>Although access to services is critical for autistic youth, families often face challenges navigating service delivery systems. Barriers to service access are compounded among Latino families. Interventions which target advocacy ability (i.e., knowledge about services, perceived advocacy skills, and empowerment) may help families access services. By comparing advocacy ability and service access between Latino and white families, unique areas of strength and vulnerability can be identified, leveraged, and targeted in interventions. In this study, 94 parents (48 white; 46 Latino) of autistic youth completed surveys about their advocacy ability and service access. White (versus Latino) participants were significantly more knowledgeable about services, comfortable with advocacy, and empowered in the community/political system. Latino (versus white) participants reported significantly greater family empowerment.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 6","pages":"490-502"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13112408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379604","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":"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":"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":"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":"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":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13331356/pdf/","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":"OA","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":"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":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13331357/pdf/","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":"OA","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}