Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, with p.Arg87 substitutions in the majority. Methods: We assembled data from 19 newly identified and all 18 previously published individuals with CYFIP2 variants. By structural modeling and investigation of WAVE-regulatory complex (WRC)-mediated actin polymerization in six patient fibroblast lines we assessed the impact of CYFIP2 variants on the WRC. Results: Sixteen of 19 individuals harbor two previously described and 11 novel (likely) disease-associated missense variants. We report p.Asp724 as second mutational hotspot (4/19 cases). Genotype–phenotype correlation confirms a consistently severe phenotype in p.Arg87 patients but a more variable phenotype in p.Asp724 and other substitutions. Three individuals with milder phenotypes carry putative loss-of-function variants, which remain of unclear pathogenicity. Structural modeling predicted missense variants to disturb interactions within the WRC or impair CYFIP2 stability. Consistent with its role in WRC-mediated actin polymerization we substantiate aberrant regulation of the actin cytoskeleton in patient fibroblasts. Conclusion: Our study expands the clinical and molecular spectrum of CYFIP2-related neurodevelopmental disorder and provides evidence for aberrant WRC-mediated actin dynamics as contributing cellular pathomechanism.

Indiana University-Purdue University Indianapolis (IUPUI) / For adults with intellectual disability life as an adult is more constrained, with fewer opportunities; the literature indicates that intellectual disability negatively impacts people across multiple life domains. Despite this adverse influence, it is largely unknown how those with intellectual disability describe their experiences with adulthood. The current study utilizes photo-elicitation interviewing methodology in an attempt to rectify this deficit. Photo-elicitation research methodology uses images, rather than text, to construct queries and prompt responses. This approach is generally undertaken in disability studies to accommodate participants’ verbal and cognitive challenges, to make abstract concepts concrete, to provide opportunity for meaningful participation, and to empower subjects within the research environment. In this study, photo-elicitation interviewing was employed with a sample of 11 young adults with intellectual disability to discover how adulthood might differ in comparison with typical peers. Participants shared their perceptions of adulthood and experiences related to family, learning/education; community/volunteering/spiritual or faith community/employment/vocation; housing/neighborhood; friends/supportive relationships/personal connections; hobbies/fun; personal health. Results replicate participants’ endorsement of the same broad criteria for adulthood attainment as typified by normative peers in the emerging adulthood literature: acceptance of responsibility for oneself; independent decision-making; financial independence. Salient emergent findings specific to the study population indicated that adulthood differs in comparison with typical peers in relation to (1), advocacy efforts to increase awareness and value of the disability experience; (2), the effect of the COVID-19 pandemic; (3), the need for continued access to support services. Access to services can only be achieved through increasing awareness of this need, recognizing the importance of this need, and prioritizing policy change to meet this need. Participants in this study have indicated that they are more than up to the task of increasing awareness through advocacy, yet it falls to social institutions such as education and government to recognize this need for ongoing support and to prioritize this need by implementing service provision policy change. / 2024-05-26

Individuals with Intellectual and Developmental Disabilities (IDD) are at an increased risk of experiencing sexual abuse. While there are evidence-based prevention programs for typically developing children, research addressing the IDD population is lacking. Research is also lacking in parent's attitudes towards sexual abuse prevention in the IDD population. Study 1 used a mixed-methods design to measure parent's perceptions of a sexual abuse prevention program. A survey method was used to gather information from parents (n=79). Differences of a variety of variables were considered but only those focusing on the nature of disability, communication abilities, and severity of disability were significant. Overall, the parent survey found that parents believe sexual abuse prevention was important for their children to learn and should be taught in the home and at school. Parents did not feel their children had adequate knowledge, and were interested in having their children participate in a sexual abuse prevention program. The most common fears and barriers held by parents were that their children would not be able to understand or generalize sexual abuse prevention, and that the topic is sensitive and can be difficult to teach. Parents who participated in the survey were invited to enroll their children in the sexual abuse prevention program used for the Study 2. The purpose of Study 2 was to evaluate the effects of a sexual abuse prevention program on adolescents with IDD using a single case design. A total of five adolescents were enrolled in the program. Four out of the five adolescents met criterion indicating that sexual abuse prevention programs can be effective in increasing knowledge among adolescents with IDD.

The purpose of the current study was to examine an ACT based intervention and its effects on problem behaviors and impulsivity rates displayed by individuals diagnosed with Mild Intellectual Disabilities. In a multiple baseline design with 2 experiments, 6 participants completed the 27-item monetary choice questionnaire weekly throughout the 9-week study. Impulsivity rates were calculated, and behavior data was collected throughout each phase of the study. During the intervention phase of the study brief ACT sessions were conducted 3 times a week during one-on-one sessions with each participant. Sessions were held face-to-face or via phone call. A stacked multiple baseline design was computed, and the data was inputted, indicating that ACT may effectively reduce problem behaviors in participants diagnosed with Mild Intellectual Disabilities. The current study suggests that ACT interventions have no effect on impulsivity. Implications of the findings and future research are discussed. Keywords: ACT, Impulsivity, Delay Discounting, Intellectual Disability, Monetary Choice Questionnaire

Introduction: People who have disabilities are often deprived of opportunities to be involved in daily life situations. While research attempts to explore the participation patterns of individuals with disabilities, there is a paucity of studies that have obtained the personal opinions of participation from children with intellectual disabilities, and none that have obtained personal opinions (self-reports) from children living in low- to middle-income (LAMI) countries. Reasons for this are thought to be the lack of measures and methods available for obtaining self-reports from children with intellectual disabilities. The Picture my Participation (PMP) instrument has been developed for use in LAMI countries and when used with the Talking MatsTM framework, ensures that the views of children with intellectual disabilities can be obtained. This study aimed to assess the test-retest reliability of the PMP instrument. Methods: Sixteen children aged 12 to 17 years with intellectual disabilities and their primary caregivers took part in this study. Each participant pair was required to complete the Picture My Participation survey twice in a space of two weeks. Cronbach’s alpha coefficient and Spearman’s rank order were used to measure internal consistency and test-retest reliability. Results and conclusions: While the questionnaire yielded high alpha values, indicating high internal consistency, the values for test-retest reliability were incomparable due to a small sample size and limited data. Further study is required with a larger and more diverse data sample. / Mini Dissertation (MAAC)--University of Pretoria, 2018. / This research forms part of an international project jointly funded by the National Research Foundation (NRF)/ STINT. Opinions expressed and conclusions arrived at are those of the author and are not necessarily to be attributed to the NRF/ STINT. / Centre for Augmentative and Alternative Communication (CAAC) / MAAC / Unrestricted

Indiana University-Purdue University Indianapolis (IUPUI) / Intellectual disability (ID) is considered a high-incidence disability affecting approximately 1.2 million adults in America (Brault, 2012). Diagnosed before the age of 18, ID is characterized by poor intellectual functioning, difficulty with adaptive behaviors, and problems with activities of daily living. Adaptive behaviors include practical, social and conceptual skills. Individuals with ID may lack the ability to personally care for themselves, self-direct and display naïve decision-making capabilities. Activities of daily living, such as maintaining one’s health, are influenced by poor adaptive behaviors. Between the years of 1997 and 2008, the prevalence of developmental disabilities, including ID, has increased 2.2% and while there is research dedicated to determining the risk factors causing ID, there is a continued need to research adaptive behavior management (Boyle et al., 2011). Current research in adaptive behavior focuses on determining best practices in order to help adults with ID thrive in schools, the workplace, home, and in the community. Adaptive behaviors related to healthcare, self-direction, and personal care still continue to be an area of adversity for the population and research on prevalence of healthcare-related problems are growing (Ervin & Merrick, 2014). Health concerns increase with the severity of the ID as well as age (Moss et al., 1993; Schrojenstein et al., 1997). Over 40% of adults with ID will develop four or more chronic diseases with an increase in age (Hsieh, Rimmer, & Heller, 2012). In the typical population, there is a plethora of evidence demonstrating that regular physical activity (PA) reduces the risk for chronic diseases, specifically all-cause mortality, colon and breast cancer, hypertension, cardiovascular disease, obesity, and depression (American College of Sports Medicine, 2013). However, the number of adults with ID participating in regular PA is considerably lower than the typical population. This lack of participation increases individual risk for secondary health conditions. With diminished capabilities in adaptive behaviors, there are significant issues that affect this population’s ability for self-care and independence in health-related care. Additionally, there are limited opportunities for individuals to take steps to improve his or her ability for self-care. Improving the availability of quality instruction for PA and adherence may increase overall PA and reduce incidence and prevalence of chronic disease in adults with ID.

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