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Individuals with intellectual disabilities often face unique challenges in physical capabilities, making traditional training methods less effective for their specific needs. This study aimed to investigate the effect of combining balance, plyometric, and strength (CBPS) training with sprint training on physical performance in male athletes with intellectual disabilities. Twenty-seven participants were randomly assigned to either a CBPS group or a control group that only maintained their regular sprint training. Participants underwent pre- and posttraining tests, including measures of balance, jumping, agility, and sprinting ability. The results showed that the CBPS group demonstrated significant improvements (p <.05) in one-leg stance, crossover-hop jump, squat jump, countermovement jump, and 10- and 30-m sprint at posttraining compared with pretraining. CBPS training combined with sprinting significantly improves physical performance in male athletes with intellectual disabilities, suggesting implications for tailored training programs to enhance their physical fitness and overall health. [ABSTRACT FROM AUTHOR]

School sports programs intentionally created for students with and without disabilities may increase social participation of students with intellectual disabilities (IDs). Special Olympics Unified Sports is one program where students with and without ID participate on one team. Guided by a critical realist paradigm, this study explored the perceptions of students with and without ID and coaches of in-school Unified Sports. Interviews were conducted with 21 youths (12 with ID) and 14 coaches. Thematic analysis resulted in four developed themes (identified is outdated language): Inclusion—Is it a "we" or a "they?"Roles and Responsibilities, Educational Context for Inclusion, and Buy-In. Findings suggest students with and without ID and coaches value the inclusive nature of Unified Sports. Future research should explore training for coaches on inclusive practices (e.g., language), and optimal methods for consistent training (e.g., use of training manuals) to foster the philosophy of inclusion within school sports. [ABSTRACT FROM AUTHOR]

Identifying factors that influence physical activity (PA) among individuals with Down syndrome is essential for PA promotion. Insight can be gained from guardians and health professionals. The purpose of this study was to explore the perspectives of guardians and health professionals on facilitators and barriers of PA in individuals with Down syndrome. Interviews were conducted with 11 guardians (five mothers, four fathers, and two legal guardians) and 11 professionals (four PA specialists, three physical therapists, and four occupational therapists). Grounded theory was applied. Barriers and facilitators fit the levels of the ecological model of health behavior: (a) intrapersonal (perceived rewards), (b) interpersonal (interaction), (c) community (availability of programs), (d) organizational (school systems), and (e) policy (education). Guardians and professionals agreed on the importance of enjoyment, interaction, and programs to promote PA. Differences between groups were identified at the organizational and policy levels. PA in persons with Down syndrome is influenced by interactions between individual and environmental factors. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Special Education & Rehabilitation (2314-8608) is the property of Association of Arab Universities and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: India has committed to the Sustainable Development Goals (SDGs) 2030 principle of "Leave No One Behind", which seeks to reduce disparities and vulnerabilities. The dearth of data on the oral health conditions of children with intellectual and developmental (IDD) disabilities in India is significant. Our systematic review intended to collate and synthesise data on the oral health status of children with IDD. Methods: Online electronic databases such as PubMed-MEDLINE, Embase, and Scopus were searched using appropriate keywords from the earliest available data until 31st March 2024, with no language restriction. Cross-sectional studies conducted amongst individuals below 18 years of age with intellectual, or developmental disabilities, in India were included. Quality assessment and meta-analysis using a random-effects model for variables reported from four or more studies and a prediction interval was calculated. Results: Out of 2388 studies, a total of 15 studies were included. Our study showed that 91% (95% [confidence interval] CI: 0.80–0.96) of IDD children use toothbrushes regularly. However, poor oral hygiene was found among 38% (95% CI = 0.21–0.59) of IDD children. The pooled prevalence of dental caries among children was found to be 64% (95% CI: 0.45–0.79). Periodontal disease was reported in only one study among 54.20% of IDD children. Conclusions: Our findings suggest that despite brushing regularly the incidence of caries and poor oral hygiene in children with IDD is high. Flexible, tailored interventions that go beyond a uniform approach must be implemented to effectively address oral health requirements of children with IDD. Specific Health Programmes should be established for their preventive oral care. [ABSTRACT FROM AUTHOR]

Purpose: Neurodevelopmental disorders (ND) have been recognized as the most common and potentially most disabling outcome of congenital diaphragmatic hernia (CDH). Our aim was to evaluate the incidence of ND in patients with a history of CDH referred for ND assessment on the basis of clinically relevant symptoms rather than through a screening process. Methods: The study was a nationwide, population-based prospective nested case–control study within a cohort of newborn children who survived the newborn period in Sweden during the observational period from 1st January 1982 until 31st December 2015. Results: In the study period, 641 non-syndromic CDH survivors were identified, and 3080 control cases were selected. Significantly higher incidence of clinically relevant any ND (11.5% vs 5.6%,p < 0.001), ASD (3.9% vs 2.1%,p:0.011), and intellectual disorder (6.6% vs 0.7%,p < 0.001) were observed in CDH compared to controls. When compared with controls, those with CDH were found to have a 2.179 times higher risk to develop any ND (p < 0.001), 1.867 times higher risk for ASD (p = 0.008), and 10.63 times higher for intellectual disorder (p < 0.001). Conclusion: CDH survivors have a higher risk of clinically relevant ND than the general population, independent of the effect of screening. [ABSTRACT FROM AUTHOR]

The extent to which people with intellectual disabilities (ID) are voting is an under-researched area. In order to fill this gap, we conducted a systematic literature review with a focus on voter turnout and democratic inclusiveness among people with ID. In total, we found N = 9 studies that met our inclusion criteria, all of which were based on samples from Western countries such as Croatia, Ireland, Netherlands, Sweden, Switzerland, UK and US. Our findings suggest that people with ID have substantially lower voter turnout than ordinary voters. Constraining factors for voting and other instances of democratic inclusion include educational limitations and physical obstacles at ballot places, as well as being under full guardianship. On the other hand, living in a household with a voter constitutes a facilitating factor. Because of the limited number of studies, we suggest that more basic quantitative and qualitative research in many countries ought to be conducted. [ABSTRACT FROM AUTHOR]

Background: Genetic disorders could also contribute to intellectual disability. Using whole exome sequencing (WES), several variants have been identified as autosomal-dominant inheritance intellectual disability. Thus, the application of WES has demonstrated its critical role in distinguishing intellectual disability in children patients, which provides essential diagnosis and promotes therapeutic strategy. Case presentation: The proband, an 18-month-old female patient, presented with a complex clinical profile characterized by profound developmental delay, epilepsy, and neurological developmental impairment. WES identified a heterozygous c.913A>G variant in exon 2 of NACC1 , resulting in disease caused by a change in the amino acid sequence, affecting the protein features and resulting in splice site changes, as revealed by MutationTaster analysis. The protein structure of NAC1 was built and named AF-Q96RE7-F1, and the mutant site was beyond the BTB/POZ, NLS, and BEN domains. Subsequently, PyMOL software was used to illustrate the molecular structure between the wild type and the mutant type of NAC1. The residues around the 304 site of amino acid changed in NAC1 p.T304A with an altered hydrogen bond, indicating an unstable structure. The patient was diagnosed with intellectual disability and profound developmental delay with epilepsy harboring a novel de novo NACC1 variant. Upon hospital admission, a comprehensive treatment regimen was initiated, including antiseizure medications, nutritional supplements, and rehabilitation training. As a result, the patient's movement performance improved. However, recurrent epilepsy attacks still occurred. Conclusion: This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder. [ABSTRACT FROM AUTHOR]

Introduction: Children with intellectual disability tend to exhibit lower performance in fundamental movement skills, such as locomotor skills, object control skills, and balance, compared to their typically developing peers. Evidence suggests that physical activity programs tailored for individuals with intellectual disabilities can positively influence the development of their motor skills. Similar to typically developing children, physical activity in children with intellectual disabilities stimulates not only physical development, but also brain function, resulting in cognitive benefits. However, the extent of physical activity's impact on the cognitive functioning of this population remains insufficiently explored. The aim of our study was to assess the effectiveness of a motor exercise program based on the Bilateral Integration method implemented for pupils with moderate intellectual disabilities. Methods: The sample consisted of 27 pupils with moderate intellectual disability (13 in the intervention group and 14 in the control group) from two special schools in Poland. Pupils in the intervention group participated in a modified version of the Bilateral Integration School Program - a 26-week physical activity program that included both individual and group sessions. The assessment of cognitive functioning, using the Fifth Edition of the Stanford–Binet Intelligence Subtests, was conducted over three time points in both groups: a pre-test before the intervention (T1), a post-test after the intervention phase end (T2) and a follow-up assessment three months after the post-test (T3). Results: Significant effects of the intervention compared to the control group were observed in certain cognitive variables. Repeated measures ANOVA revealed a significant group-by-time interaction for the Nonverbal Visual-Spatial Processing score, Nonverbal Working Memory score, as well as Verbal Fluid Reasoning. Discussion: The original program based on the Bilateral Integration method proved effective for pupils with moderate intellectual disability. Preliminary results indicate improvements in cognition, particularly in working memory and visual-spatial processing. Further studies are necessary to assess the program's efficacy comprehensively. [ABSTRACT FROM AUTHOR]

Prior epidemiological studies investigating the association between delivery mode (i.e., vaginal birth and cesarean section [C‐section]) and autism spectrum disorder (ASD) and intellectual disability (ID) risk have reported mixed findings. This study examined ASD and ID risks associated with primary and repeat C‐section within diverse US regions. During even years 2000–2016, 8‐years‐olds were identified with ASD and/or ID and matched to birth records [ASD only (N = 8566, 83.6% male), ASD + ID (N = 3445, 79.5% male), ID only (N = 6158, 60.8% male)] using the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring Network methodology. The comparison birth cohort (N = 1,456,914, 51.1% male) comprised all births recorded in the National Center for Health Statistics corresponding to birth years and counties in which surveillance occurred. C‐section rates in the birth cohort demonstrated significant regional variation with lowest rates in the West. Overall models demonstrate increased odds of disability associated with primary and repeat C‐section. Adjusted models, stratified by region, identified significant variability in disability likelihood associated with repeat C‐section: increased odds occurred for all case groups in the Southeast, for ASD only and ID only in the Mid‐Atlantic, and no case groups in the West. Regional variability in disability risk associated with repeat C‐section coincides with differences in birth cohorts' C‐section rates. This suggests increased likelihood of disability is not incurred by the procedure itself, but rather C‐section serves as a proxy for exposures with regional variability that influence fetal development and C‐section rates. Lay Summary: Prior studies of the risk of developmental disabilities associated with repeat cesarean sections—typically a planned procedure—report mixed results. The current study examined a diverse US population to investigate autism spectrum disorder and intellectual disability risks associated with the cesarean section procedure. Significant differences were found in both cesarean section rates and the link between planned cesarean sections and the risk of developmental disability across geographic regions. [ABSTRACT FROM AUTHOR]

Many people with intellectual disabilities have complex health needs that are not met by the Australian healthcare system. The Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (the Commission) looked at the failings of the healthcare system and the improvements needed. Services provided by allied health professionals are one part of the healthcare system. This article describes the evidence the Commission heard about the unmet allied health needs of people with intellectual disabilities, the resulting harms caused, and the recommendations to address these. Despite identifying unmet allied health needs, the Commission heard evidence predominantly about nursing and medical care, although many of its recommendations were applied to the entire health workforce, including allied health professionals. The article reflects on the challenges of implementing the Commission's recommendations and the risk that positive change in health outcomes for people with intellectual disabilities may not be achieved. [ABSTRACT FROM AUTHOR]

This article considers the response of the Disability Royal Commission (the Commission) to the experiences of the estimated 21,000 Australian parents with intellectual disabilities and their children. Research shows that interlocking complex social disadvantage and ableist professional attitudes toward parenting by people with intellectual disabilities persist, leading to very high rates of child protection and child removal. The approach taken by the Commission to examination of violence, abuse, neglect, and exploitation against parents with disabilities as a group led to the invisibility of parents with intellectual disabilities within the Final Report. The life course approach was narrowly conceived and did not fully capture reproductive justice across the life course. The issue of parenting and child protection contact was primarily considered in relation to First Nations families, which brought critical attention to some aspects of systemic violence and abuse, but issues and experiences of non-Indigenous parents with intellectual disabilities were absent. We argue that these and other flaws prevented the Commission from making important recommendations in relation to legal and policy reform to uphold the rights of people with intellectual disabilities to become parents and to receive the support they need for parenting over the life course. [ABSTRACT FROM AUTHOR]

Spivakovsky et al. (2023) questioned the effectiveness of Positive Behaviour Support as an intervention for reducing challenging behaviour and the use of restrictive practices as a behaviour management approach. This article responds to their critique. We argue that the literature supports the effectiveness of Positive Behaviour Support when it is properly implemented. As employees of a Positive Behaviour Support service provider, our position is also supported by our experience of the use of Positive Behaviour Support and its beneficial outcomes. To ensure a high level of fidelity in the implementation of Positive Behaviour Support, it needs to align with the elements that underpin Positive Behaviour Support (i.e., elements of applied behaviour analysis, person-centred practice, human rights, system change) rather than simply implementing Positive Behaviour Support to meet existing legislative requirements. In conclusion, when Positive Behaviour Support service provision and implementation in Australia is correctly aligned with the core components of Positive Behaviour Support, positive outcomes for people with disabilities, including a reduction in the use of restrictive practices, can be achieved. [ABSTRACT FROM AUTHOR]

One of the most contentious outcomes of the Disability Royal Commission (the Commission) is the divided recommendations regarding special schools. This is an outcome that is particularly relevant to students with intellectual disabilities who are more likely than other students with disabilities to be enrolled in special schools. The place of special schools in an inclusive education system has long been debated among educators, policymakers, and parents of students with disabilities, and this debate was no less prominent in the investigations of the Commission, as it grappled with the question of what safe, quality, inclusive schools look like for students with disabilities. The Commissioners sought unsuccessfully to avoid polarised discussions about special schools and arrived at a split conclusion about the role of special schools going forward. Understanding and critiquing the Commission's divided recommendations on special schools is the focus of this article. [ABSTRACT FROM AUTHOR]

The Disability Royal Commission received evidence of educational exclusion of school students with disabilities, occurring in both overt and covert forms, and of students' experiences of violence and abuse. According to this evidence and prior research and reports, exclusionary and abusive practices appear to be entrenched in school education in both mainstream and special settings. The relationship between the evidence presented to the Commission and prior inquiries and research is presented with the aim of providing a critique of its approach and recommendations. Highlighted are the contrasting recommendations to either abolish or retain special schools and other segregated school settings. Other recommendations are reviewed to demonstrate how the final recommendations were part of a comprehensive suite of strategies to address long-standing exclusionary practices. Particular attention is given to students with severe-profound intellectual disabilities, who are most likely to be enrolled in or diverted to special schools and segregated units located in mainstream schools. Although the recommendations were comprehensive in addressing key contributors to exclusion, they showed a failure to consider in greater depth prior research and current positive practices of authentic inclusive education. It is argued that the Commission missed the opportunity to draw on research based on models of supports, shared understanding of inclusion, and making use of professionals beyond educators to provide complementary expertise. [ABSTRACT FROM AUTHOR]

The Disability Royal Commission (the Commission) investigated many issues, one of which was whether people with cognitive disabilities, including people with intellectual disabilities, faced systemic neglect in the Australian health system. Using a method of co-design with people with intellectual disabilities, we analysed the Commission's approach and recommendations about preventive health care. We identified how the Commission's recommendations can inform the achievement of the National Preventive Health Strategy (the Strategy) for people with intellectual disabilities. We found that a strength of the Commission's process was the multiple ways it inquired about the experience of accessing preventive health care. However, the inclusiveness of the invitations to participate in the Commission's work and the location of the public hearings were limitations for key stakeholders. Our analysis also noted that the Commission's public hearings focused on the supply side of healthcare access (health services) compared to the demand side of access (health users). This was a missed opportunity to learn from health users about their experiences. Two challenges to the implementation of the recommendations include the focus on cognitive disability instead of intellectual disability, and the focus on health care in general, rather than specifically on preventive health care. We also found that the Commission's recommendations mainly relate to the leadership, governance and funding elements in the Strategy, with a few actions relevant to prevention, partnerships, information, research, surveillance and preparedness. It is important that all the elements required to mobilise prevention systems are considered and actioned to achieve the Strategy. [ABSTRACT FROM AUTHOR]

The gestures produced by children with intellectual disability (ID) in spatial tasks are rarely considered, although they have a supporting role in the formation of thought. In this research study, we analyzed the number of gestures, the type of gestures, and their role in the expression of knowledge of students with ID. Twenty students (12–17 years old) with ID and 40 students with typical development (TD) matched on visual-spatial level (n = 20) and on language level (n = 20) participated in the research. Students with ID made significantly more gestures in relation to the number of words spoken compared to their peers with TD. Thirty percent of the expressive communication of students with ID came from gestures alone, and 60% of the responses contained at least one gesture. Finally, the higher the level of task difficulty, the more gestures the students made. [ABSTRACT FROM AUTHOR]

Vitamin D measurements and dual energy x-ray absorptiometry (DXA) scans are recommended in people with intellectual disability and/or epilepsy in order to prevent bone-linked harm. The prevalence of vitamin D supplementation and bone mineral density screening were evaluated in 68 people with epilepsy and intellectual disability (EID) and 68 matched controls with epilepsy without intellectual disability. DXA scans were not performed in any of the people with EID but were performed in 11.8% of the people in the control group. People with EID had a higher vitamin D supplementation rate and were treated with more antiepileptic drugs (AEDs) and more AED combinations, including first generation AEDs. Increased awareness of bone health screening in people with epilepsy and especially EID is warranted. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Special Education & Rehabilitation (2314-8608) is the property of Association of Arab Universities and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

First‐tier genetic investigations for patients with neurodevelopmental disorders (NDDs) may include chromosomal microarray, Fragile X testing, and screening for inherited metabolic diseases, but most remain undiagnosed upon completion of testing. Here, we report the diagnostic yields of genetic testing for 537 patients with at least one of autism spectrum disorder, global developmental delay, and/or intellectual disability. Patients were assessed in a single neurodevelopmental genetics clinic, and each underwent a standardized history and physical examination. Each patient was characterized as syndromic or nonsyndromic based on clinical features. Our results demonstrate that multigene sequencing (with an NDD gene panel or exome) had a higher diagnostic yield (8%; 95% confidence interval [CI]: 5%, 13%) than chromosomal microarray and Fragile X testing combined (4%; 95% CI: 3%, 7%). Biochemical screening for inherited metabolic diseases had a diagnostic yield of zero. The diagnostic yield of genetic testing was significantly higher for syndromic patients than for nonsyndromic patients (odds ratio [OR] 3.09; 95% CI: 1.46, 6.83) and higher for female patients than for male (OR 3.21; 95% CI: 1.52, 6.82). These results add to the growing evidence supporting a comprehensive genetic evaluation that includes both copy number analysis and sequencing of known NDD genes for patients with NDDs. [ABSTRACT FROM AUTHOR]

This study investigates South African teachers' attitudes in schools for learners with special educational needs specifically learners with severe intellectual disability (SID) using a quantitative and descriptive online survey. The questionnaire includes the Modified Teachers' Attitudes Scale. The theory of planned behaviour is used as an explanatory model to explore why teachers may have difficulty with their role in supporting the educational needs of learners with SID. Purposive sampling was employed to recruit teachers which are on Facebook support groups. The results based on the feedback from 221 teachers, reveal that teachers possess negative attitudes regarding the communication, socialisation, and future outcomes of learners with SID. Teachers revealed positive attitudes towards inclusion and their capabilities when teaching learners with SID. A neutral attitude was obtained towards these learners' participation needs. The article concludes with the importance of teacher education on the nature and manifestations of the disorder to provide realistic expectations within the classroom. An additional recommendation is made addressing the management of schools requesting to fortify the use of inclusive practice and place value on input from teachers. [ABSTRACT FROM AUTHOR]

Introduction: There is increased focus on the negative impact of the overprescribing of medication, specifically psychotropic medication, including anti-seizure medications (ASM), in people with Intellectual Disability (ID). This is particularly important for the older adult population, where multi-morbidity and polypharmacy are more common. ASMs are associated with psychiatric and behavioral adverse effects. Furthermore, there is growing awareness of the anticholinergic burden for older adults with epilepsy and ID and the relationship with behaviors that challenge (BtC). Areas covered: This review defines the older adult population and outlines the relationship between epilepsy and ID. BtC is outlined in the context of the population and the relationship with ASMs. The evidence base to guide prescribing and de-prescribing for newer ASMs is also presented, including pragmatic data. Expert opinion: Polypharmacy, particularly psychotropics, are a mortality risk factor for older adults with epilepsy and ID. Therefore, any BtC requires a holistic assessment with a multi-disciplinary approach. This includes specific consideration of all prescribed medicines in the context of polypharmacy. There should be routine reviews, at least annually, for those aged 40 years and over particularly focused on anticholinergic burden and/or polypharmacy. [ABSTRACT FROM AUTHOR]

Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders. Currently, the molecular mechanisms for the reported variants in causing diverse disorders are unknown. Consequently, this review brings up to date the related information regarding the structure and function of Kv1.2 channel, expression patterns, neuronal localizations, and tetramerization as well as important cell and animal models. In addition, it provides updates on human genetic variants, genotype–phenotype correlations especially highlighting the deep insight into clinical prognosis of KCNA2-related developmental and epileptic encephalopathy, mechanisms, and the potential treatment targets for all KCNA2-related neurological disorders. [ABSTRACT FROM AUTHOR]

Background: Services for adults with intellectual disabilities in Hong Kong have a hierarchical staffing structure. Professional social workers, who performed as mid‐level employees, work with frontline support workers to deliver services to clients. Methods: This qualitative study explored social workers' experiences of working with support workers through in‐depth interviews with 13 participants. Findings: The study revealed that social workers perceived a significant variation between themselves and support workers in terms of working motivation, values and attitudes towards clients with intellectual disabilities. Despite the hierarchical relationships, social workers and support workers share the power of service decision‐making. Social workers used firm and gentle approaches to facilitate changes in practices to uphold service values. These findings were compared with Western literature on this topic, indicating similarities and differences. Conclusion: The organisations need to facilitate an effective collaboration between social workers and support workers to enhance the quality of services for adults with intellectual disabilities in Hong Kong. [ABSTRACT FROM AUTHOR]

Background: Active Support is a staff practice that aims to increase engagement of people with intellectual disabilities. This study seeks to: (1) identify the outcomes of staff using Active Support and how these are measured; (2) identify how the views of people with intellectual disabilities have been included in Active Support research. Method: A scoping review was conducted of peer‐reviewed articles about Active Support published between 2009 and 2023. Results: Sixteen articles were identified. Outcomes included engagement, the quality of staff support, choice and challenging behaviour. Structured observations were the most frequently used measurement method. Only two studies explored people with intellectual disabilities' perspectives about Active Support. Conclusions: Consistent use of similar measures is a strength of Active Support research. Including perspectives of people with intellectual disabilities may provide insight into dimensions of support not been measured and assist in further developing these measures and Active Support practice. [ABSTRACT FROM AUTHOR]

Background: Attitudes towards intellectual disability play an important role in the social inclusion and well‐being of persons with intellectual disability. Few studies have examined attitudes of staff working in the specialised service industry, which may have an even greater impact. This study aimed to better understand these attitudes. Methods: A sample of 157 direct support professionals and 38 managers working with persons with intellectual disability completed the Attitudes Toward Intellectual Disability Questionnaire (ATTID; Morin, Rivard, et al. (2013). Journal of Intellectual Disability Research, 57, 279–292). Attitudes were assessed along affective, cognitive, and behavioural dimensions. Results: Results revealed generally positive attitudes in both groups, but more paternalistic attitudes among managers and less positive attitudes in the general population. Positive attitudes were associated with level of education, frequency and quality of contact, and knowledge about intellectual disabilities. Conclusion: Workplace training programs addressing the aetiology of intellectual disability and interventions promoting self‐determination may help enhance staff attitudes towards intellectual disability. [ABSTRACT FROM AUTHOR]

Background: There is established evidence of complicated grief among people with an intellectual disability. This paper describes the process of adapting complicated grief therapy (CGT) for this population. Method: Action research documented the adaptation of CGT. Qualitative methods included analysing meeting notes, reflective interviews with two members of the team involved in adapting the materials, and interviews with six professionals working in disability settings who reviewed the adapted materials. Results: Key processes included adapting the standardised tools that form part of CGT and developing adapted approaches to abstract concepts related to death, dying and bereavement. Key therapeutic components such as imaginal revisiting and the role of significant others required adaptation for implementation with people with intellectual disabilities. Conclusion: The importance of adapting evidence‐based therapies for people with intellectual disabilities is emphasised. This research provides an adapted form of an established therapy for piloting with this population. [ABSTRACT FROM AUTHOR]

Background: Many people view people with intellectual disability primarily as needing help. That perspective limits relationships and can promote discrimination. We sought to better understand social relationships among young adults with intellectual disability. Method: Seven postsecondary students with intellectual disability participated in a photovoice study, sharing photos and stories about giving and receiving help. They participated in individual interviews, a group meeting, and a photo exhibition, and helped identify results and conclusions. Results: Participants viewed themselves as helpers and recipients of help. Themes were: foundational importance of families; openness to being helped; personal growth through challenging experiences; and tension between wanting to help and risks of helping others. Participants wanted to raise awareness that people with disabilities can help others, educate them about disability, and contribute to research. Conclusions: Many young adults with intellectual disability want to contribute to relationships, which are often limited by others' expectations about disability. [ABSTRACT FROM AUTHOR]

Background: Talking therapy for people with intellectual disabilities is often specifically adapted. One adaptation is the involvement of significant others in therapy, however, there is no systematic description of the use of this adaptation in routine clinical practice. Method: An online survey of UK psychologists regarding the inclusion of significant others in individual therapy with people with intellectual disabilities. Data were analysed using qualitative content analysis. Results: Ninety‐five psychologists who work with people with intellectual disabilities provided responses to questions regarding the decision to include significant others in therapy, factors that make including significant others more or less likely and how the role of significant others is explained to them. Conclusions: Psychologists consider a range of factors in deciding the involvement of significant others. We discuss implications for training of therapists working with people with intellectual disabilities, issues of consent and how the roles of significant others are understood. [ABSTRACT FROM AUTHOR]

Background: Research suggests that people with intellectual disabilities have a higher risk for cardiovascular disease than the general population. The aim of this study was to identify barriers for the prevention, diagnosis, and treatment of cardiovascular disease for people with intellectual disabilities. Method: We conducted individual interviews with relatives and general practitioners and focus group interviews with staff working at an assisted home facility, a cardiac ward, an obesity clinic and two rehabilitation centres (n = 33) in Norway. Inductive approach and thematic analysis were used to analyse the data. Results: We identified barriers on an individual and a structural level. The underlying reason for these barriers is that health problems, such as cardiovascular disease, are regularly overlooked as the condition of intellectual disability overshadows other possible diagnoses. Conclusion: This focus on intellectual disability rather than other explanations leads to shortcomings in the prevention, diagnoses, and treatment of cardiovascular disease in this group. [ABSTRACT FROM AUTHOR]

Background: The review aimed to investigate the effectiveness of parent–child relationship interventions for families of children with intellectual disability up to 12 years old. Methods: Quasi‐experimental or randomised controlled trials (RCTs) of interventions targeting the parent–child relationship where ≥50% of children had an intellectual disability were included. Meta‐analyses of parent–child relationship outcomes and child outcomes used standardised mean difference as the effect size. Results: Twenty‐seven papers were included (N = 1325). Parent–child relationship outcomes improved significantly (n = 1325; g = 1.08, 95% CI: 0.64, 1.52) with a large effect size that was robust to sensitivity analyses. Child developmental outcomes improved significantly (n = 1082; g = 0.65, 95% CI: 0.23, 1.07), and indicated a large effect size for child socialisation and communication. Conclusions: Findings suggest that interventions targeting parent–child relationship quality are associated with substantial improvements in parent–child relationship and may improve child outcomes related to socialisation and communication. [ABSTRACT FROM AUTHOR]

Young adults with intellectual and developmental disabilities (IDD) are vulnerable to transportation challenges which can contribute to a lack of community engagement. This article describes findings from a qualitative study in which we conducted one time, semistructured interviews with nine individuals with IDD (ages 18–25) and their parents/guardians in dyads. We also interviewed 10 adult service and local agency providers to incorporate different perspectives. Major themes included family factors, community structure, and systems challenges as barriers that impacted the transportation experiences of young adults with IDD and their families. We provide implications for transition-related professionals and suggestions for future research and policy focused on transportation. [ABSTRACT FROM AUTHOR]

Background: Individuals with intellectual disability, including people with Down syndrome (DS), often exhibit restricted and repetitive behaviours (RRBs). However, RRBs have not been deeply characterised in children and adolescents with DS. Method: The study encompassed a cohort of 151 participants aged 4 to 18 years with DS. RRBs were assessed utilising the Repetitive Behaviour Scale‐Revised. Additionally, data pertaining to cognitive and adaptive functioning, linguistic abilities, sleep patterns and emotional/behavioural issues were gathered. Results: Self‐injurious behaviours were reported less frequently whereas parents most commonly endorsed items related to behaviours associated with the need for sameness and ritualistic behaviours. We observed very few gender differences, whereas some age‐related differences emerged, with adolescents exhibiting higher scores in items related with higher‐level RRBs. The analysis of the association between RRBs and clinical features revealed that RRBs were associated with parent‐reported sleep difficulties, as well as with internalising and externalising problems. We also observed a negative correlation with IQ whereas associations with adaptive skills emerged mainly for lower‐level RRBs, such as motor stereotypies. Finally, RRBs were negatively associated with linguistic abilities, both expressive and receptive. Conclusions: RRBs in children and adolescents with DS are of significant clinical interest due to their associations with various clinical dimensions. Therefore, psychological and neuropsychiatric assessment should include an accurate evaluation of RRBs for young people with DS. [ABSTRACT FROM AUTHOR]

Background: Self‐determination refers to setting goals and making decisions regarding one's own life with support from others as needed. Research on people with intellectual and developmental disabilities has established the importance of self‐determination for quality of life outcomes, such as increased independence and life satisfaction. However, self‐determination has not been characterised specifically in fragile X syndrome (FXS), the leading inherited cause of intellectual disability. Relative to youth with other forms of intellectual and developmental disabilities, youth with FXS may face exceptional barriers to the development of self‐determined behaviour. In addition to intellectual disability, the FXS behavioural profile is characterised by high rates of autism and anxiety that may further limit opportunities for youth with FXS. The heritable nature of the condition can also yield a distinctive family environment, with siblings and parents also living with fragile X or its associated conditions. Considering these unique challenges, the present study examined self‐determination in young adult males and females with FXS and explored whether factors such as language skills, adaptive behaviour and autism traits were associated with self‐determination capacity and opportunities. Methods: The present study included 9 females and 36 males with FXS between the ages of 17 and 25 years. Caregivers (mothers or fathers) completed the American Institute for Research Self‐Determination Assessment, which is a questionnaire that yields three scores: self‐determination capacity, opportunities for self‐determination at home and opportunities for self‐determination at school. Results: Caregivers endorsed a wide range of self‐determination capacity and opportunities, with ratings for opportunities at home and school exceeding ratings of capacity. Better adaptive behaviour skills were associated with more self‐determination capacity, and the presence of more autism traits was associated with fewer opportunities at school. Conclusions: Results from this study contribute to our understanding of avenues to best support young adults with FXS as they transition to adulthood. Our findings also have implications for practice, such that interventions targeting adaptive behaviours and self‐determination may be an effective approach for promoting autonomy and independence for young adults with FXS. Additionally, caregivers and educators should continue to provide opportunities to practise self‐determination, regardless of their perception of capacity. [ABSTRACT FROM AUTHOR]

Background: Despite reported physical and functional improvements with aerobic and sprint interval training (SIT) protocols in individuals with intellectual disability (ID), it is not known if these interventions' effectivity would promote improvements in cardiac autonomic modulation. This study aimed to investigate if a 6‐month SIT or a continuous aerobic programme could enhance physical performance and cardiac autonomic modulation at rest, during physical activity (PA) and after it in older adults with an ID. Methods: This is a randomised control trial. Participants with ID (age: 50.58 ± 7.25) were allocated to one of three groups [multicomponent aerobic training group (MATG), multicomponent interval sprint training group (MISTG) and control group (CG)]. The programmes lasted 24 weeks, with three sessions/week, 75–90 min per session. The HRV was analysed at rest and recovery, the delta of heart rate (HR) was analysed during 6MWT, and the HR t‐off kinetics was analysed in recovery after 6MWT. Results: There were not found differences between groups, moments, or interaction for cardiac autonomic modulation at rest and recovery. During exercise, only MSITG showed a significant increase of HR between rest and the first 30 s of exercise (P < 0.05). Physical performance increased only in MSITG (P < 0.05), while CG showed a significant reduction (P < 0.01). Conclusions: The MSITG improved the physical performance and the vagal withdrawal at the beginning of the submaximal exercise. These findings suggest that high‐intensity exercise may positively impact baroreflex function, mitigating the decline in autonomic reflex response capacity associated with aging in individuals with ID. [ABSTRACT FROM AUTHOR]

Background: Individuals (i.e. children/young adults) with developmental disabilities (DDs) and intellectual disabilities (IDs) often display a variety of physical and motor impairments. It is well known that participation in motor activities can positively impact the development of children's cognitive and social skills. Recently, virtual and digital technologies (e.g. video conferencing applications, virtual reality and video gaming) have been increasingly used to promote better physical/motor outcomes. The efficacy of digital technologies in improving motor outcomes for those with DD/ID varies depending on the technology and population, and the comparative effects of various technologies are unknown. The aim of our study is to conduct a systematic review to comprehensively examine the quantitative and qualitative results of current studies reporting the efficacy of digitally based motor interventions on motor outcomes in individuals with DD/ID. Methods: Literature published from 1900 to 2024 was searched in four health sciences databases: PubMed, PsycINFO, Scopus and CINAHL. Articles that examined the effects of gross motor/physical activity training using technologies such as exergaming (i.e. exercise through video gaming such as the Wii and Xbox Kinect), virtual reality or telehealth video conferencing applications (i.e. Zoom, Webex or mobile health apps) on the standardised or game‐specific gross motor performance of individuals with DD/ID diagnoses that do not typically experience significant walking challenges using experimental or quasi‐experimental study designs were included. Thirty relevant articles were retrieved from a search of the databases PubMed (914), PsycINFO (1201), Scopus (1910) and CINAHL (948). Results: Our quantitative synthesis of this published literature suggests strong and consistent evidence of small‐to‐large improvements in motor skill performance following digital movement interventions. Conclusions: Our review supports the use of digital motor interventions to support motor skill performance in individuals with DD without ID. Digital technologies can provide a more engaging option for therapists to promote motor skill development in individuals with DD or for caregivers to use as an adjunct to skilled therapy. [ABSTRACT FROM AUTHOR]

Intellectual disability (ID) is a kind of nervous developmental disorder and affects more than 1% of people worldwide. SLC45A1 as a transmembrane protein is implicated in the regulation of glucose homoeostasis. Through trio‐based exome sequencing, the missense mutations of SLC45A1 c.103G>A (p.V35M) and c.1211T>G (p.F404C) were identified in the proband with syndromic ID. The distribution, expression and activity of SLC45A1 wild‐type (WT) and variants were assayed in transfected COS7 cells. In SLC45A1 variants, the hydrogen bonds surrounding the 35th and 404th amino acid were changed, location on the cytomembrane was failed, their activity to transport glucose was also significantly decreased to contrast with SLC45A1‐WT. No difference was observed at the mRNA and protein level. In conclusion, the compound heterozygous variants of SLC45A1 might be the genetic etiology for syndromic ID. These novel mutations probably attenuated its activity to transport glucose by the alteration of tertiary structure and failure of intracellular location. [ABSTRACT FROM AUTHOR]

ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants are associated with non‐specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the clinical features of 13 additional individuals and review the data on a total of 27 individuals (16 individuals with monoallelic and 11 with biallelic ANK3 variants) and demonstrate that the phenotype for biallelic variants is more severe. The phenotypic features include language delay (92%), autism spectrum disorder (76%), intellectual disability (78%), hypotonia (65%), motor delay (68%), attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) (57%), sleep disturbances (50%), aggressivity/self‐injury (37.5%), and epilepsy (35%). A notable phenotypic difference was presence of ataxia in three individuals with biallelic variants, but in none of the individuals with monoallelic variants. While the majority of the monoallelic variants are predicted to result in a truncated protein, biallelic variants are almost exclusively missense. Moreover, mono‐ and biallelic variants appear to be localized differently across the three different ankyrin‐G isoforms, suggesting isoform‐specific pathological mechanisms. [ABSTRACT FROM AUTHOR]

Access to solid organ transplantation in patients with intellectual disability is associated with health inequities due to concerns about treatment adherence, survival rates, and post-transplant quality of life. This systematic literature review aims to compare outcomes after organ transplantation in patients with intellectual disability compared to patients without intellectual disability. Embase, Medline Ovid, PsycINFO, Web of Science, Cochrane Central Register of Trials, and Google Scholar databases were systematically searched for studies concerning pediatric or adult solid organ transplantation in recipients with a diagnosis of intellectual disability prior to transplantation. Primary outcomes were patient and graft survival rates. Secondary outcomes were acute rejection rate, adherence rates, and quality of life. Nine studies were included, describing kidney (n = 6), heart (n = 4) and liver (n = 1) transplantation. Reported graft survival rates were non-inferior or better compared to patients without intellectual disability, while patient survival was reportedly slightly lower in two studies reporting on kidney transplantation. Although current evidence has a potential selection bias based on including patients with a sufficient support network, intellectual disability alone should not be regarded a relative or absolute contra-indication for solid organ transplantation. [ABSTRACT FROM AUTHOR]

Background: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. Methods: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. Results: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59–0.69%) in 2011 to 1.00% (0.94–1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04–1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. Conclusion: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child's birth. The increase instead may be due to changes in diagnostic practices in Sweden over time. [ABSTRACT FROM AUTHOR]

Background: Genetic disorders could also contribute to intellectual disability. Using whole exome sequencing (WES), several variants have been identified as autosomal-dominant inheritance intellectual disability. Thus, the application of WES has demonstrated its critical role in distinguishing intellectual disability in children patients, which provides essential diagnosis and promotes therapeutic strategy. Case presentation: The proband, an 18-month-old female patient, presented with a complex clinical profile characterized by profound developmental delay, epilepsy, and neurological developmental impairment. WES identified a heterozygous c.913A>G variant in exon 2 of NACC1, resulting in disease caused by a change in the amino acid sequence, affecting the protein features and resulting in splice site changes, as revealed by MutationTaster analysis. The protein structure of NAC1 was built and named AF-Q96RE7-F1, and the mutant site was beyond the BTB/POZ, NLS, and BEN domains. Subsequently, PyMOL software was used to illustrate the molecular structure between the wild type and the mutant type of NAC1. The residues around the 304 site of amino acid changed in NAC1 p.T304A with an altered hydrogen bond, indicating an unstable structure. The patient was diagnosed with intellectual disability and profound developmental delay with epilepsy harboring a novel de novo NACC1 variant. Upon hospital admission, a comprehensive treatment regimen was initiated, including antiseizure medications, nutritional supplements, and rehabilitation training. As a result, the patient's movement performance improved. However, recurrent epilepsy attacks still occurred. Conclusion: This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder. [ABSTRACT FROM AUTHOR]

Background: Genetic disorders could also contribute to intellectual disability. Using whole exome sequencing (WES), several variants have been identified as autosomal-dominant inheritance intellectual disability. Thus, the application of WES has demonstrated its critical role in distinguishing intellectual disability in children patients, which provides essential diagnosis and promotes therapeutic strategy. Case presentation: The proband, an 18-month-old female patient, presented with a complex clinical profile characterized by profound developmental delay, epilepsy, and neurological developmental impairment. WES identified a heterozygous c.913A>G variant in exon 2 of NACC1, resulting in disease caused by a change in the amino acid sequence, affecting the protein features and resulting in splice site changes, as revealed by MutationTaster analysis. The protein structure of NAC1 was built and named AF-Q96RE7-F1, and the mutant site was beyond the BTB/POZ, NLS, and BEN domains. Subsequently, PyMOL software was used to illustrate the molecular structure between the wild type and the mutant type of NAC1. The residues around the 304 site of amino acid changed in NAC1 p.T304A with an altered hydrogen bond, indicating an unstable structure. The patient was diagnosed with intellectual disability and profound developmental delay with epilepsy harboring a novel de novo NACC1 variant. Upon hospital admission, a comprehensive treatment regimen was initiated, including antiseizure medications, nutritional supplements, and rehabilitation training. As a result, the patient's movement performance improved. However, recurrent epilepsy attacks still occurred. Conclusion: This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder. [ABSTRACT FROM AUTHOR]

Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific mutation, namely the 4 bp deletion c.565_568delGACT, is currently considered a mutation hotspot. Recent articles performed genotype–phenotype correlations in patients with GNAS-related pseudohypoparathyroidism Ia (PHP1a) but a specific focus on this hotspot is still lacking. We reported two cases, from our department, of PHP1a associated with c.565_568delGACT deletion and performed a literature review of all the previously reported cases of the 4 bp deletion hotspot. We found a higher prevalence of brachydactyly, round face, intellectual disability and subcutaneous/heterotopic ossifications in patients with the c.565_568delGACT as compared to the other variants in the GNAS gene. The present study highlights the different prevalence of some clinical features in patients with the c.565_568delGACT variant in the GNAS gene, suggesting the possibility of a personalized diagnostic follow-up and surveillance for these patients. [ABSTRACT FROM AUTHOR]

Down syndrome (DS) is a chromosomal condition that causes many systemic dysregulations, leading to several possible age-related diseases including Alzheimer's disease (AD). This may be due to the triplication of the Amyloid precursor protein (APP) gene or other alterations in mechanistic pathways, such as the mTOR pathway. Impairments to upstream regulators of mTOR, such as insulin, PI3K/AKT, AMPK, and amino acid signaling, have been linked to amyloid beta plaques (Aβ) and neurofibrillary tangles (NFT), the most common AD pathologies. However, the mechanisms involved in the progression of pathology in human DS-related AD (DS-AD) are not fully investigated to date. Recent advancements in omics platforms are uncovering new insights into neurodegeneration. Genomics, spatial transcriptomics, proteomics, and metabolomics are novel methodologies that provide more data in greater detail than ever before; however, these methods have not been used to analyze the mTOR pathways in connection to DS-AD. Using these new techniques can unveil unexpected insights into pathological cellular mechanisms through an unbiased approach. [ABSTRACT FROM AUTHOR]

Haploinsufficiency of the transcriptional repressor ZBTB18/RP58 is associated with intellectual disability. However, the mechanisms causing this disability are unknown, and preventative measures and treatments are not available. Here, we assessed multiple behaviors in Zbtb18/Rp58 heterozygous-knockout mice, and examined local field potentials, DNA fragmentation, mitochondrial morphology, and performed histochemical and transcriptome analyses in the hippocampus to evaluate chronic inflammation. In wild-type mice, object location memory was present at a similar level at 2 and 4–5 months of age, and became impaired at 12–18 months. In contrast, Zbtb18/Rp58 heterozygous-knockout mice displayed early onset impairments in object location memory by 4–5 months of age. These mice also exhibited earlier accumulation of DNA and mitochondrial damage, and activated microglia in the dentate gyrus, which are associated with defective DNA repair. Notably, chronic minocycline therapy, which has neuroprotective and anti-inflammatory effects, attenuated age-related phenotypes, including accumulation of DNA damage, increased microglial activation, and impairment of object location memory. Our results suggest that Zbtb18/Rp58 activity is required for DNA repair and its reduction results in DNA and mitochondrial damage, increased activation of microglia, and inflammation, leading to accelerated declines in cognitive functions. Minocycline has potential as a therapeutic agent for the treatment of ZBTB18/RP58 haploinsufficiency-associated cognitive dysfunction. [ABSTRACT FROM AUTHOR]

Background: Administering radiation therapy to individuals with intellectual disabilities (ID) and psychiatric patients taking antipsychotics poses challenges, especially with whole breast irradiation (WBI) due to difficulty staying still (DSS). In such scenarios, intraoperative radiotherapy (TARGIT-IORT) provides an alternative. Although prior studies have shown its applicability in special cases where WBI may be contraindicated, there is a paucity of literature emphasizing its role in patients with ID and psychiatric conditions who have DSS. Therefore, our case series aims to highlight the applicability of administering TARGIT-IORT in such patients. Case reports: Four breast cancer patients underwent lumpectomy and TARGITIORT. Among them, two patients had ID, with one experiencing a decreased range of motion. The other two had psychiatric disorders, including schizophrenia and bipolar disorder, both manifesting involuntary movements and DSS. Three patients had invasive ductal carcinoma (IDC), and one had invasive lobular carcinoma (ILC). All patients undergoing TARGIT-IORT tolerated the procedure well. Notably, none of the patients exhibited evidence of disease on follow-up. Conclusion: Our study underscores the potential use of TARGIT-IORT as a viable treatment option for breast cancer patients with intellectual and psychiatric disabilities. Unlike traditional EBRT, TARGIT-IORT offers a single radiation dose, addressing challenges associated with compliance or DSS. Our findings demonstrate positive outcomes and tolerance, especially in patients where standard oncologic procedures are difficult to achieve. TARGIT-IORT could also benefit breast cancer patients with concurrent movement disorders like Parkinson’s disease and other movement disorders. Nonetheless, future studies are needed to reinforce its applicability for patients with DSS. [ABSTRACT FROM AUTHOR]

Objective: To investigate a case of neurodevelopmental disorder caused by mutation of FBXW7. Methods: Clinical data were collected from the patient, trio-WES (whole-exome sequencing) was performed on the patient and his parents (trio), and the results were verified by Sanger sequencing. Results: The patient was a 2-year and 1-month old male who presented with facial dysmorphism (prominent forehead, ocular hypertelorism, and low nasal bridge), global developmental delay, language impairment, hypertonia, labial hemangioma, hydrocele, and overgrowth. The trio-WES confirmed that the child had a pathogenic de novo FBXW7 gene variant, c.1612C>T (p.G1n538*), a heretofore unreported locus. Conclusion: This case of developmental delay, hypotonia, and impaired language (OMIM: #620012) related to a mutation in FBXW7, is a rare genetic disorder, newly identified in recent years, and seldom reported. The presence of hypertonia, labial hemangioma, and hydrocele in this child suggests significant phenotypic heterogeneity of the disease, and the discovery of new mutant loci enriches the spectrum of pathogenic variants of the disease. [ABSTRACT FROM AUTHOR]

Background: Adequate skill levels of gross motor capacity affect activities of daily living, participation in recreational activities and general physical activity levels of youths (7–21 years). Most studies of typically developing youths have reported significant negative relationships between gross motor capacity and body mass index. The latter findings are especially of concern for youths with intellectual disabilities in that it has been estimated that 61% of children and 66% of adolescents were classified as overweight/obese. Therefore, the purpose of this study was to determine the strength of the relationship between body mass index and gross motor capacity among youths with mild to moderate intellectual disability (ID). Methods: Components of the Bruininks–Oseretsky Test of Motor Proficiency (BOT‐2) were used for designated aspects of gross motor capacity: six items for upper limb coordination (ULC); seven items for balance (BAL); six items for bilateral coordination (BLC); and one item for agility (A‐2). Participants consisted of 654 youths (438 men), ages 8–21 years with ID. Participants were divided into pre‐puberty and post‐puberty men (post ≥12 years) and women (post ≥10 years of age). Body mass index (BMI, kg/m2) was determined by height and weight measurements on the day of testing. A Kendall's tau correlation coefficient (τ) was used to determine the strength of the relationship between body mass index and gross motor capacity (BOT‐2 test scores). Results: The τ values for both pre‐puberty and post‐puberty for all BAL, BLC, A‐2 tests and for three of the six ULC tests were negligible to very weak (τ = 0 to ±0.19). Higher τ values were seen for pre‐puberty youths in three of the ULC tests, but they fell within the weak range (τ < 0.24). When combining all pre‐puberty and post‐puberty participants, τ values were in the negligible to very weak range for all tests. Conclusion: The strength of relationship between body mass index and gross motor capacity as measured by the BOT‐2 subtest item scores used in this study is very weak and suggests that they are not clinically relevant. [ABSTRACT FROM AUTHOR]

Background: Attitudes toward individuals with intellectual disability (ID) are the most important factor affecting their social integration and can cause them to experience a sense of achievement or discrimination. The present study aimed to evaluate the latent factor structure and validity of the Persian version of the Attitudes toward Intellectual Disability (ATTID) Short‐Form questionnaire. Methods: The latent factor structure of the Persian version of the ATTID Short‐Form was established in a convenient sample of the general population (N = 280) in Iran. The structural validity and temporal reliability, internal consistency and confirmatory factor analysis were evaluated. Data analysis was done with SPSS v23 Windows edition and R v4.2.1. Results: The Persian version of the ATTID Short‐Form was shown to have a five‐factor structure: discomfort, knowledge of capacity, interaction, sensitivity and knowledge of cause. The structure was appropriately fit according to the fit indices (χ2(485) = 530.12), (P‐value = 0.077). All the subscales had good temporal reliability. Conclusions: Findings suggest that the Persian version of the Short‐Form of ATTID is a brief, valid and reliable measure that can be used in research and clinical practice. [ABSTRACT FROM AUTHOR]