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This study explored the effect of different dual-task (DT) training programs on DT interference in adults with intellectual disability. Center-of-pressure (CoP) mean velocity in single-task (ST) and cognitive-DT conditions and the Timed Up-and-Go Test (TUGT) during ST, cognitive-DT, and motor-DT conditions were assessed before and after intervention in a cognitive–motor training group, a motor–motor training group, and a control group. Before training, CoP mean velocity and TUGT time increased (p <.001) in DT compared with the ST condition. After training, the CoP mean velocity values remained unchanged (p =.07) in DT compared with the ST condition among the cognitive–motor training group. Furthermore, compared with the ST condition, no increase (p = 1) was reported in the TUGT time during the cognitive-DT condition for the cognitive–motor training group and during the motor-DT for the motor–motor training group (p =.12). The effect of DT training on DT interference depends on the training modality. [ABSTRACT FROM AUTHOR]

Several institutional aspects within the U.S. public school system impede the delivery of adapted physical education (APE) services to disabled children, including a lack of understanding and prioritization of these services by the special education team and a lack of qualified APE professionals to deliver these services. Thus, we conducted a qualitative inquiry grounded in a critical-ableism perspective to explore special education gatekeepers' experiences and perspectives of APE. Gatekeepers included parents, physical educators, and school administrators. Using a reflexive thematic analysis, we developed four interrelated themes: (a) disregard, negative, and charity mindsets toward disability; (b) systemic challenges in valuing and prioritizing APE; (c) presence as inclusion: (un)intentional marginalization in physical education; and (d) physical education for my child was a nightmare. These findings illustrate the complexities around the provision of physical education and APE to disabled children. [ABSTRACT FROM AUTHOR]

Background: The current physical activity guidelines recommend engagement in strength activities at least 2 days per week. Currently, there is a lack of literature examining strength activities among people with disabilities. The purpose of this study is to estimate and compare the prevalence of engagement in strength activities and adherence to strength activity guidelines among adults with and without disabilities in the United States. Methods: A total of 1,005,644 adults (18–80 y old) with and without disabilities from the 2013 to 2017 Behavioral Risk Factor Surveillance System were included in this secondary data analysis. Descriptive analyses were performed to describe the prevalence of strength activity behaviors of adults with and without disabilities. Logistic and Poisson regression models were performed to evaluate the relative contribution of disability status on strength activity behaviors. Results: A higher proportion of participants without disabilities (46.42%, 95% CI, 46.18–46.65) reported engaging in strength activities compared with participants with disabilities (30.68%, 95% CI, 30.29–31.08; P <.01). Participants with disabilities were less likely to engage in strength activities (odds ratio = 0.51, 95% CI, 0.50–0.52; adjusted odds ratio = 0.75, 95% CI, 0.73–0.77) and meet strength activity guidelines (odds ratio = 0.56, 95% CI, 0.54–0.57; adjusted odds ratio = 0.75, 95% CI, 0.73–0.77) than participants without disabilities. Conclusion: Experiencing a disability is associated with lower engagement in strength activities; thus, it is important to identify effective and efficient approaches to promoting strength activities among people with disabilities. [ABSTRACT FROM AUTHOR]

This systematic review synthesized the literature on digital health interventions for the promotion of physical activity (PA) among people with intellectual disabilities and/or autism. From an initial screening of 553 records, 10 studies underwent full-text review. Data were extracted relating to study, intervention, and sample characteristics and PA-related findings. Methodological quality was evaluated using the Crowe Critical Appraisal Tool. There were mixed findings pertaining to the effectiveness of digital health interventions for promoting PA among these populations. Positive results were reported for three of five active-video-game interventions, two of three social-media-based interventions, and one of two e-learning/multicomponent interventions. Digital health interventions can potentially be effective for promoting PA among people with intellectual disabilities and/or autism. However, the large variation in the samples and intervention types and a reliance on pre- and quasi-experimental research designs suggest that inferences should be made with caution and additional research is needed. [ABSTRACT FROM AUTHOR]

The primary purpose of this study was to adapt selected accuracy and precision tests in table tennis to the specific skills of elite table tennis players with impairment. The study included a sample of 23 Para table tennis players with an average age of 31.8 ± 12.22 years (including 30.4% females) who belonged to the senior Polish Para table tennis team. A battery of six tests evaluating stroke accuracy and serve precision was assessed. The analysis of the reliability of these tests confirmed the legitimacy of using this battery of accuracy and precision tests to assess the skills of Para table tennis players in all three integrated sport classes: players in wheelchairs, in a standing position, and with intellectual impairment. Analysis of the data obtained from the tests could provide coaches with relevant information regarding elite Para table tennis players' level of performance and examine selected accuracy and precision elements of their individual technique. [ABSTRACT FROM AUTHOR]

Most people with intellectual disabilities have comorbid health conditions, which will impact optimization of sporting performance. Classification is used in Paralympic events to ensure that those with similar levels of functional ability compete fairly against each other. An evidence-based approach needs to be developed for athletes with intellectual disabilities to be classified in relation to their overall functional capacity into competition groups of similar ability. This research builds on previous work using the taxonomy of The International Classification of Functioning, Disability and Health (ICF) to group athletes with intellectual disabilities into comparable competition groups as an approach to Paralympic classification. Three groups of athletes—Virtus, Special Olympics, and Down syndrome—are compared using the ICF questionnaire indicating functional health status in relation to sporting performance. The questionnaire was found to discriminate between athletes with Down syndrome and other athletes, and an approach to using a cutoff score to develop competition classes is explored. [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]

This study explored the acute effects of different running intensities on cognitive and motor performances in individuals with intellectual disability (ID). An ID group (age, M = 15.25 years, SD = 2.76) and a control group without ID (age, M = 15.11 years, SD = 1.54) performed visual simple and choice reaction times, auditory simple reaction time, and finger tapping tests before and after running at low or moderate intensity (30% and 60% of heart rate reserve [HRR], respectively). Visual simple reaction time values decreased (p <.001) after both intensities at all time points with higher (p =.007) extend after the 60% HRR intensity for both groups. After both intensities, the VCRT decreased (p <.001) in the ID group at all time points compared with preexercise (Pre-EX) while, in the control group, these values decreased (p <.001) only immediately (IM-EX) and after 10 min (Post-10) of exercise cessation. Compared withs Pre-EX, in the ID group, the auditory simple reaction time values decreased (p <.001) at all time points after the 30% HHR intensity whereas, after the 60% HRR, these values decreased only at IM-EX (p <.001), Post-10 (p =.001) and Post-20 (p <.001). In the control group, auditory simple reaction time values decreased (p =.002) only after the 30% HRR intensity at IM-EX. The finger tapping test increased at IM-EX (p <.001) and at Post-20 (p =.001) compared to Pre-EX in both groups only after the 30% HHR intensity and for the dominant hand. The effect of physical exercise on cognitive performances in individuals with ID seems to depend on the cognitive test type as well as the exercise intensity. [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]

MEF2C is strongly linked to various neurodevelopmental disorders including autism, intellectual disability, schizophrenia, and attention-deficit/hyperactivity disorder. Mice that constitutively lack 1 copy of Mef2c or selectively lack both copies of Mef2c in cortical excitatory neurons display a variety of behavioral phenotypes associated with neurodevelopmental disorders. The MEF2C protein is a transcription factor necessary for cellular development and synaptic modulation of excitatory neurons. MEF2C is also expressed in a subset of cortical GABAergic (gamma-aminobutyric acidergic) inhibitory neurons, but its function in those cell types remains largely unknown. Using conditional deletions of the Mef2c gene in mice, we investigated the role of MEF2C in parvalbumin-expressing interneurons (PV-INs), the largest subpopulation of cortical GABAergic cells, at 2 developmental time points. We performed slice electrophysiology, in vivo recordings, and behavior assays to test how embryonic and late postnatal loss of MEF2C from GABAergic INs impacts their survival and maturation and alters brain function and behavior. Loss of MEF2C from PV-INs during embryonic, but not late postnatal, development resulted in reduced PV-IN number and failure of PV-INs to molecularly and synaptically mature. In association with these deficits, early loss of MEF2C in GABAergic INs led to abnormal cortical network activity, hyperactive and stereotypic behavior, and impaired cognitive and social behavior. MEF2C expression is critical for the development of cortical GABAergic INs, particularly PV-INs. Embryonic loss of function of MEF2C mediates dysfunction of GABAergic INs, leading to altered in vivo patterns of cortical activity and behavioral phenotypes associated with neurodevelopmental disorders. [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]

ABSTRACT Background Methods Findings Conclusions There is a need for more qualitative research focusing on the lived experiences of people with an intellectual disability and a better understanding of how these experiences align with other voices in their lives, such as family and support staff.In this qualitative study, we asked people with an intellectual disability (N = 87) and their support workers (N = 120) similar questions about factors contributing positively and negatively to the lives of those with an intellectual disability. We conducted a thematic analysis combining data across respondents, while also identifying areas of similarities and divergence between self‐reports and staff reports. The setting was community‐supported living schemes and group homes in the UK.Qualitative themes, representing key positive and negative factors in the lives of people with an intellectual disability, were (1) Positive impact of social relationships on well‐being, (2) positive impact of participation and roles on self‐determination and well‐being and (3) negative impacts of difficulties affecting day‐to‐day life. These three themes are all linked to a broader sense of identity, purpose and self‐determination. These were broadly consistent across self‐reports and staff reports, although there were some points of divergence, particularly in Theme 3.These findings reveal areas that are key to maximising the quality of life of people with an intellectual disability and suggest that self‐reports and proxy reports can sometimes offer unique perspectives. Our findings can be used to ensure that the priorities of people with an intellectual disability are considered in their care. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Method Findings Conclusion Women with intellectual disabilities confront distinct challenges as they age, compounded by cognitive and adaptive constraints. These challenges encompass heightened health risks, barriers to social support and susceptibility to violence, underscoring the critical role of self‐determination in enhancing their quality of life.This quantitative study utilised a scale based on the Functional Model of Self‐Determination to assess self‐determination levels in 218 Chilean women aged 45 to 80 with intellectual disabilities. The research also explored potential personal and environmental factors influencing these levels.Employed participants and those in supportive family environments demonstrated higher self‐determination levels. Moreover, women without mental health issues exhibited advanced skills in self‐regulation, empowerment and self‐realisation. Significant disparities were noted based on varying levels of intellectual disability, types of support received and socioeconomic status, highlighting the necessity for tailored and diversified support systems.Developing personalised support programs that address individual and contextual differences is crucial. Despite limitations, this study emphasises the urgency for inclusive public policies aimed at eliminating socioeconomic and cultural barriers, thereby fostering environments conducive to community engagement and autonomous decision‐making. [ABSTRACT FROM AUTHOR]

BackgroundMethodResultsConclusionsOpportunities for students with intellectual disability to attend postsecondary education have increased with the rise of inclusive post-secondary education (IPSE) supports, bringing the need to examine the experiences of students and their instructors.This qualitative study used semi-structured interviews with 12 university instructors of IPSE students and 10 IPSE students to examine experiences with course adaptations.Results indicate that instructors desired greater institutional support, training, and information as they felt unsure about their abilities to support students with intellectual disability and had varied understanding of accommodations and modifications. Students wanted to be seen as capable university students, utilised peer mentor supports, and were able to provide information about how they learned in a university setting.The study found that students were valuable but often underutilised sources of information about their own access needs and sometimes worked through and around university systems. Implications for practice are provided. [ABSTRACT FROM AUTHOR]

Background: Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that involves mainly girls and is the second most frequent cause of genetic intellectual disability. RTT leads to neurological regression between 6 and 18 months of life and could be associated with a variable neurological impairment. However, RTT affects not only neurological function but also wide aspects of non-neurological organs. Recent data showed that the endocrine system is often involved in RTT patients, including disorders of growth, bone health, thyroid, puberty onset, and weight abnormalities However, systematic data on endocrinopathies in RTT are scarce and limited. Objective: This review aims to analyze the prevalence and type of endocrine comorbidities in RTT population, to allow a precocious diagnosis and appropriate endocrinological management. Methods: Systematic research was carried out from January 2000 to March 2024 through MEDLINE via PubMed, Scopus, and the Cochrane Library. Results: After the selection phase, a total of 22 studies (1090 screened) met the inclusion criteria and were reported in the present review. Five studies were observational-retrospective, four were cross-sectional and case report or series, three were survey, prospective, and case-control, and finally one study for descriptive-transversal and longitudinal population-based study. The sample population consisted of multiethnic groups or single ethnic groups. The main endocrinopathies reported were malnutrition, bone alterations, and alterations of puberty onset. Conclusions: Our analysis shows that endocrinopathies are not rare in RTT patients. Therefore, in the context of a multidisciplinary approach, accurate screening and monitoring for endocrinopathies should be recommended in all RTT patients, to improve clinical practice, healthcare management, and, finally, patients' quality of life. [ABSTRACT FROM AUTHOR]

The European Court of Justice issued a judgment on the processing of data concerning health in the context of online marketing of pharmacy-only medicinal products. The case involved a dispute between two pharmacy operators regarding the processing of customer data on an online platform. The Court clarified that personal data entered by customers when ordering pharmacy-only medicinal products online constitutes data concerning health, even if the products do not require a prescription. The judgment emphasized the broad interpretation of data concerning health to ensure a high level of protection for individuals' fundamental rights and freedoms. [Extracted from the article]

ABSTRACT Background Method Findings Conclusions Third‐level education is a relatively new opportunity for people with intellectual disabilities. The development of third‐level educational opportunities for this population rests on understanding their experiences and suggestions for programme development and improvement. The aim of this study is to establish how inclusive third‐level education is experienced by people with intellectual disabilities.A scoping review was conducted using Arksey and O'Malley's framework of peer‐reviewed empirical research published between 2002 and 2023 that reported on the experience of third‐level education for people with intellectual disabilities.People with intellectual disabilities are engaging in third‐level education courses within University Campuses. They consider such programmes as opportunities to meet aspirations and to enable independent living especially through employment. Their experiences are influenced by supportive staff, initiatives and challenges and they have opinions on how to improve third‐level programmes.People with intellectual disabilities value and embrace the opportunities to engage in third‐level education. Their experience is mixed with positive personal outcomes and challenges. Future research is needed to examine effective approaches to overcoming challenges and finding ways to develop programmes that meet the needs of adults with intellectual disabilities. [ABSTRACT FROM AUTHOR]

Background Method Results Conclusions Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals with both ID and ASD. The aim of this study was to investigate the prevalence of large‐scale mtDNA rearrangements in ID and ID with comorbid ASD (ID‐ASD).We used mtDNA‐targeted next‐generation sequencing and the MitoSAlt high‐throughput computational pipeline in peripheral blood samples from 76 patients with ID (mean age 52.5 years, 37% female), 59 patients with ID‐ASD (mean age 41.3 years, 46% female) and 32 healthy controls (mean age 42.4 years, 47% female) from Catalonia.The study revealed a high frequency of mtDNA rearrangements in patients with ID, with 10/76 (13.2%) affected individuals. However, the prevalence was significantly lower in patients with ID‐ASD 1/59 (1.7%) and in HC 1/32 (3.1%). Among the mtDNA rearrangements, six were identified as deletions (median size 6937 bp and median heteroplasmy level 2.3%) and six as duplications (median size 10 455 bp and median heteroplasmy level 1.9%). One of the duplications, MT‐ATP6 m.8765‐8793dup (29 bp), was present in four individuals with ID with a median heteroplasmy level of 3.9%.Our results show that mtDNA rearrangements are frequent in patients with ID, but not in those with ID‐ASD, when compared to HC. Additionally, MitoSAlt has demonstrated high sensitivity and accuracy in detecting mtDNA rearrangements, even at very low heteroplasmy levels in blood samples. While the high frequency of mtDNA rearrangements in ID is noteworthy, the role of these rearrangements is currently unclear and needs to be confirmed with further data, particularly in post‐mitotic tissues and through age‐matched control studies. [ABSTRACT FROM AUTHOR]

\nLAY SUMMARYAcademic writing is a complex task involving microstructure (linguistic-level) and macrostructure (coherence structure) indices. Our goal was to examine the contribution of an academic writing intervention programme among students with intellectual disability at the microstructure and macrostructure levels while characterising the learning curves. Six students with mild intellectual disability studying for a BA (MCA = 30.43, MIQ = 69.17) participated in a spiral intervention programme of 32 lessons focusing on improving paragraph complexity and text structure measured at five time-points. Microstructure improvement in number of words, sentences, paragraphs, words per paragraph, lexical density, adjectives along with macrostructure improvement in text-paragraph structure, global-local linkage were found. A rapid increase in macrostructure indices was observed between the first and second testing points, after which a ceiling effect was reached. Concurrently, microstructure indices demonstrated a slower, more gradual learning curve throughout the intervention period. The discussion will focus on the improvement patterns in microstructure–macrostructure indices and the various learning curves observed. It explores the implications of these findings for cognitive modifiability in adults with intellectual disability and the potential of tailored academic writing interventions in post-secondary education programmes. A long-term, spiral intervention programme was effective at improving academic writing skills that require high cognitive involvement among individuals with intellectual disabilities in microstructure and macrostructure indices.Different types of linear learning curves showed a rapid increase in macrostructure indices, alongside a mixed rate of improvement in microstructure indices.The participants' thinking skills improved from focused thinking to transcendental thinking following the Structural Cognitive Modifiability (Feuerstein, 2003).The results can be explained via the Compensatory Trajectory theory (Lifshitz, 2020; 2015) which claims that chronological age plays an important role in determining the cognitive level and ability in adults with intellectual disabilities.A long-term, spiral intervention programme was effective at improving academic writing skills that require high cognitive involvement among individuals with intellectual disabilities in microstructure and macrostructure indices.Different types of linear learning curves showed a rapid increase in macrostructure indices, alongside a mixed rate of improvement in microstructure indices.The participants' thinking skills improved from focused thinking to transcendental thinking following the Structural Cognitive Modifiability (Feuerstein, 2003).The results can be explained via the Compensatory Trajectory theory (Lifshitz, 2020; 2015) which claims that chronological age plays an important role in determining the cognitive level and ability in adults with intellectual disabilities. [ABSTRACT FROM AUTHOR]

Circular RNAs (circRNAs) are covalently closed RNA molecules widely expressed in eukaryotes and deregulated in several pathologies, including cancer. Many studies point to their activity as microRNAs (miRNAs) and protein sponges; however, we propose a function based on circRNA-mRNA interaction to regulate mRNA fate. We show that the widely tumor-associated circHIPK3 directly interacts in vivo with the BRCA1 mRNA through the back-splicing region in human cancer cells. This interaction increases BRCA1 translation by competing for the binding of the fragile-X mental retardation 1 protein (FMRP) protein, which we identified as a BRCA1 translational repressor. CircHIPK3 depletion or disruption of the circRNA-mRNA interaction decreases BRCA1 protein levels and increases DNA damage, sensitizing several cancer cells to DNA-damage-inducing agents and rendering them susceptible to synthetic lethality. Additionally, blocking FMRP interaction with BRCA1 mRNA with locked nucleic acid (LNA) restores physiological protein levels in BRCA1 hemizygous breast cancer cells, underscoring the importance of this circRNA-mRNA interaction in regulating DNA-damage response. [Display omitted] • circHIPK3 and FMRP compete for a direct site-specific binding to the BRCA1 mRNA • circHIPK3 promotes BRCA1 expression, preventing FMRP-mediated translational inhibition • circHIPK3- BRCA1 interaction disruption sensitizes cancer cells to DNA-damaging drugs • FMRP- BRCA1 -binding disruption restores normal BRCA1 levels in BRCA1 hemizygous cells Grelloni et al. demonstrate that the tumor-associated circular RNA circHIPK3 and the RNA-binding protein FMRP compete for site-specific binding to the BRCA1 mRNA. CircHIPK3, by interacting with the BRCA1 transcript, prevents FMRP-mediated translational inhibition, thereby increasing BRCA1 protein levels. These interactions represent novel therapeutic targets to modulate BRCA1 levels. [ABSTRACT FROM AUTHOR]

Background: The SLC2A1 gene plays a vital role in brain energy metabolism. SLC2A1 variants have been reported to be associated with early-onset refractory seizures. This study aims to explore the association between the SLC2A1 gene and late-onset epilepsy. Methods: Trios-based whole-exome sequencing was performed on patients with epilepsy without acquired etiologies. The pathogenicity of the variants was assessed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: A total of 14 heterozygous SLC2A1 variants were identified in 16 unrelated families. The variants were evaluated as "pathogenic" or "likely pathogenic" according to the ACMG guidelines. Ten cases (62.5%) presented with infantile onset seizures and developmental delay/intellectual disability and were diagnosed with developmental and epileptic encephalopathy (DEE). The other six cases (37.5%) exhibited late-onset seizures and normal development. They were diagnosed with idiopathic partial epilepsy (n = 2) or idiopathic generalized epilepsy (n = 4). Further analysis showed that DEE-associated variants tended to cluster in the transmembrane region, whereas the mild epilepsy-associated variants tended to locate in regions outside the transmembrane region, suggesting a potential molecular sub-regional effect. A total of 15 cases had delayed diagnosis, with the longest delay being 22 years. The SLC2A1 expression stage, which is expressed at relatively high level throughout the whole life span, from the embryonic to adult stages with two peaks at approximately four and 14 years, is generally consistent with the seizure onset age. In addition, patients with early-onset age had variants that were potentially associated with severe damage, suggesting a potential correlation between the age of disease onset and the damaging effects of the variants. Conclusions: SLC2A1 variants are associated with late-onset epilepsy, which is consistent with the genetic-dependent stage feature of SLC2A1. Early genetic diagnosis is important for treatment of patients with SLC2A1 variants. [ABSTRACT FROM AUTHOR]

Background Methods Results Conclusions This study aimed to evaluate the validity and reliability of the adult self‐report and proxy version of the Trauma Screener‐Intellectual Disability (TS‐ID) in adults with mild intellectual disability or borderline intellectual functioning (MID‐BIF). An optimal cut‐off value was determined for the ratio of specificity to sensitivity for predicting the diagnosis of post‐traumatic stress disorder (PTSD).The TS‐ID was adapted from a Dutch Child and Adolescent Trauma Screener, for use with adults with MID‐BIF. Outcomes based on the TS‐ID were compared with the presence of PTSD, as classified using the Diagnostic Interview Trauma and Stressors–Intellectual Disability (Mevissen et al. 2018). The TS‐ID adult version was administered to 97 participants with MID‐BIF who lived in supported housing, whereas the TS‐ID proxy version was administered to 92 family members or professional caregivers.The TS‐ID adult version showed high internal consistency (Cronbach's α = .94) and excellent validity (AUC = .94) for distinguishing PTSD in adults with MID‐BIF. Optimal specificity and sensitivity was found at a cut‐off score of 18. Although the TS‐ID proxy version demonstrated excellent internal consistency (Cronbach's α = .93), it showed no validity in statistically distinguishing PTSD in adults with MID‐BIF.The TS‐ID showed favourable psychometric qualities as a screening instrument of PTSD in the case for people with MID‐BIF. [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]

Purpose: Students with intellectual disabilities (ID) typically have difficulties with literacy learning, often not acquiring basic literacy skills. Research and practical experience indicate that when these students are provided with evidence-based instruction, including comprehension as well as phonemic strategies, literacy may develop. Methods: In this study, four pairs of teachers were interviewed regarding their perceptions of a 12-week digital literacy intervention that focused on both phonics and comprehension strategies. The intervention aimed to enhance literacy and communication development in students aged 7–21, who had mild to severe ID. Results and conclusion: Four themes were identified in the analysis. It was seen that the teachers found it valuable to have access to two apps accessing and facilitating the use of different literacy strategies in meeting the needs of individual students. This digital format was also perceived as positive, contributing to creating a supportive and systematic learning environment that enhanced and increased literacy learning. The teachers recurringly also talked about the positive influence of participating in research, lifting the strong focus, and positive attention as very important for both teachers and students. IMPLICATIONS FOR REHABILITATION: Having adapted applications for literacy learning that is supportive and systematic can be a key element in successful rehabilitation for students with ID. Teacher-student interaction is noted as significant for both motivation and the development of reading skills for participating students. The use of these applications also had a positive secondary effect on communication for some students. [ABSTRACT FROM AUTHOR]

Individuals with intellectual and developmental disabilities who engage in severe challenging behavior may comprise 5%–10% of the clinical population. Unfortunately, challenging behavior literature tends to underrepresent adult participants and emphasize efficacy (Does the intervention work?) more often than effectiveness (Does the intervention work in real world settings?). We conducted a systematic program evaluation to examine the effectiveness of a comprehensive behavioral treatment package using a hybrid quasi‐experimental consecutive case series design featuring eight adults who experienced the treatment package. The results depicted a substantial decrease in challenging behavior and increase in adaptive behavior across sessions for most participants. Impressive treatment integrity outcomes (M = 84%, range, 82%–90%) showcased that the intervention was implemented as intended. Social validity surveys administered to participants, caregivers, and case managers provide support for the acceptability of the treatment package. Project limitations, clinical considerations, and future directions are discussed. [ABSTRACT FROM AUTHOR]

Establishing conditioned reinforcers is often critical to treatment for individuals diagnosed with autism spectrum disorder or intellectual and developmental disabilities (IDDs). Although researchers have evaluated several procedures, methods and results vary across studies, making it difficult to draw conclusions about these procedures' general and relative effectiveness. The purpose of this systematic review was to assess the overall and relative effectiveness of stimulus‐stimulus (S‐S) pairing, response‐stimulus (R‐S) pairing, and operant discrimination training (ODT) for establishing conditioned reinforcers for children on the autism spectrum or who have an IDD. Thirty‐one studies, including 12 theses and dissertations, met inclusion criteria. Eight studies evaluated S‐S pairing, 20 evaluated R‐S pairing, and nine evaluated ODT. Combined, S‐S pairing, R‐S pairing, and ODT were effective at establishing conditioned reinforcers in only half of all attempts. However, analysis indicated that R‐S pairing is the most effective procedure, followed by S‐S pairing and ODT, in that order. [ABSTRACT FROM AUTHOR]

Basic research suggests that reinforcer immediacy is important; even short delays to reinforcement may impair learning. Further, a previous applied study showed that most participants with autism spectrum disorder (ASD) acquired tacts more quickly with immediate reinforcement, compared to delays of 6 and 12 s. However, no research has examined variable delays to reinforcement, which may be more common than fixed delays in applied settings. In this study, we examined the effect of variable delays to reinforcement on the acquisition of tacts. Specifically, we evaluated three conditions: a 0 s delay, a 4–8 s delay, and a 10–14 s delay to reinforcement among three children with ASD. The results show that two of the three participants achieved the mastery criterion most quickly in the 0 s delay condition. We discuss the results and implications of this finding. [ABSTRACT FROM AUTHOR]

Objective: The incidence of neuroleptic malignant syndrome (NMS), a rare, potentially fatal adverse effect of antipsychotics, among children and youth is unknown. This cohort study estimated NMS incidence in antipsychotic users age 5–24 years and described its variation according to patient and antipsychotic characteristics. Methods: We used national Medicaid data (2004–2013) to identify patients beginning antipsychotic treatment and calculated the incidence of NMS during antipsychotic current use. Adjusted hazard ratios (HRs) assessed the independent contribution of patient and antipsychotic characteristics to NMS risk. Results: The 1,032,084 patients had 131 NMS cases during 1,472,558 person-years of antipsychotic current use, or 8.9 per 100,000 person-years. The following five factors independently predicted increased incidence: age 18–24 years (HR [95% CI] = 2.45 [1.65–3.63]), schizophrenia spectrum and other psychotic disorders (HR = 5.86 [3.16–10.88]), neurodevelopmental disorders (HR = 7.11 [4.02–12.56]), antipsychotic dose >200mg chlorpromazine-equivalents (HR = 1.71 [1.15–2.54]), and first-generation antipsychotics (HR = 4.32 [2.74–6.82]). NMS incidence per 100,000 person-years increased from 1.8 (1.1–3.0) for those with none of these factors to 198.1 (132.8–295.6) for those with 4 or 5 factors. Findings were essentially unchanged in sensitivity analyses that restricted the study data to second-generation antipsychotics, children age 5–17 years, and the 5 most recent calendar years. Conclusion: In children and youth treated with antipsychotics, five factors independently identified patients with increased NMS incidence: age 18–24 years, schizophrenia spectrum and other psychotic disorders, neurodevelopmental disorders, first-generation drugs, and antipsychotic doses greater than 200 mg chlorpromazine-equivalents. Patients with 4 or 5 of these factors had more than 100 times the incidence of those with none. These findings could improve early identification of children and youth with elevated NMS risk, potentially leading to earlier detection and improved outcomes. [ABSTRACT FROM AUTHOR]

Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14‐month‐old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652 T > G (p.W218G); c.915 + 1G > T] in the BRF1 gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of BRF1 variants, which indicates patients with the developmental delay caused by BRF1 variants require other treatments instead of rehabilitation. [ABSTRACT FROM AUTHOR]

Background and Objectives: Malan syndrome is a rare overgrowth syndrome resulting from NFIX haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of NFIX on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability. Methods: Here, we report on the presentation, management, and development of a patient with Malan syndrome, highlighting the clinical and behavioral aspects of this syndrome, therapeutic interventions employed, and the course of disease over a 15-year period. We review medical records, cytogenetic analysis and neuropsychologic testing results, as well as speech pathology, optometric, and medical reports. In addition, we discuss personalized therapeutic strategies that could potentially be exploited in the future for such overgrowth syndromes. Results: To our knowledge, this is the first longitudinal follow-up report of a case of Malan syndrome to highlight the clinical course, interventions employed, and resulting improvements in neurocognitive function over time. Conclusions: This case highlights the importance of early diagnosis, intervention, and preventative care in overgrowth syndromes, as well as the potential for therapeutic intervention in the future. [ABSTRACT FROM AUTHOR]

Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs. In this context, genes encoding voltage-gated ion channels (VGCs) play a significant role, and part of the large phenotypic variability observed in DEE patients carrying VGC mutations could be explained by the presence of genetic modifier alleles that can compensate for these mutations. This review will focus on the current knowledge of the compensatory effect of DEE-associated voltage-gated ion channels and their therapeutic implications in DEE. We will enter into detailed considerations regarding the sodium channels SCN1A, SCN2A, and SCN8A; the potassium channels KCNA1, KCNQ2, and KCNT1; and the calcium channels CACNA1A and CACNA1G. [ABSTRACT FROM AUTHOR]

Why you should read this article: • To understand the historical context of the enrolled nurse (EN) and nursing associate (NA) roles • To consider the contribution of roles such as the NA to the overall nursing workforce • To learn about how the experiences of previous roles such as the EN can inform the development of new nursing roles. Background: The enrolled nurse (EN) role (second-level registration) was formalised in the UK in 1961 but phased out from the mid-1980s and training courses leading to second-level registration had ceased completely by 1992. The training and practice experiences of former ENs have garnered interest in recent years due to the similarities between the EN role and the nursing associate (NA) role, which was introduced in England in 2017 to help bridge the gap between healthcare assistants and registered nurses. Aim: To explore the past experiences of former ENs to provide a historical lens through which the contemporary role of the NA can be considered. Method: Semi-structured interviews were undertaken with nine former ENs in learning disability and mental health. Findings: Thematic analysis of interview transcripts generated four main themes – ‘the numbers’, ‘just an enrolled nurse’, ‘a stepping stone’ and ‘considerations for the NA’. Participants valued their EN training and role and believed it had provided them with a foundation on which they could make important contributions to nursing care throughout their careers. However, they also described having a perceived ‘lower status’ than registered nurses, but at the same time were expected to assume responsibilities beyond their scope of practice during workforce shortages. Participants welcomed the concept of the NA role and regarded it as a way of building a strong and reliable nursing workforce but were concerned that NAs could be exploited as a ‘cheaper nursing workforce’ and about the lack of role clarity among the wider nursing and healthcare workforce. Conclusion: Lessons from the historical experiences of former ENs should guide the ongoing development of new roles such as the NA, particularly in relation to ensuring the wider nursing and healthcare workforce are clear about the scope of the role. [ABSTRACT FROM AUTHOR]

Inborn errors of monoamine neurotransmitter metabolism are rare diseases characterized by nonspecific neurological symptoms. These symptoms appear in early childhood and correspond to movement disorders, epilepsy, sleep disorders and/or mental disability. Cerebrospinal fluid biomarkers have been identified and validated to allow specific diagnosis of these diseases. Biomarkers of inborn errors of monoamine neurotransmitter metabolites are divided in two groups: monoamine neurotransmitter metabolites and pterins. Biomarkers quantification in cerebrospinal fluid is based on high-performance liquid chromatography separation coupled to electrochemical detection, fluorescence detection, or mass spectrometry. The following article reviews the advances in the proposed routine methods for the measurement of these analytes in cerebrospinal fluid. The purpose of this review is to compare the various proposed methods in terms of sample preparation, chromatographic conditions and detection modes. Despite the broad range of proposed methods, quantification of inborn errors of monoamine neurotransmitter biomarkers remains a great challenge, given the complexity of biological fluids and the low amounts of analytes that are present in cerebrospinal fluid. [ABSTRACT FROM AUTHOR]

Both genetic and environmental factors can disturb the epigenome, influencing autism spectrum disorders (ASD) development and underlying the heterogenic complexity of autistic phenotypes. A U-shaped curve links the autistic phenotype with genetically and environmentally induced epigenomic imbalance. Analysis of DNA methylation in peripheral tissues can provide biomarkers valuable for diagnosing both idiopathic and syndromic ASD. Human iPSC-derived neurons and cerebral organoids (COs) replicate ASD epigenetic signatures and provide a platform for drug testing, personalized medicine, and regenerative therapies. Advances in our capacity to manipulate the neural epigenome using epidrugs and epi-editing approaches may yield novel therapeutic approaches to treat ASD. Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies characterized by deficits in social interaction and repetitive behaviors, collectively affecting almost 1% of the worldwide population. Deciphering the etiology of ASD has proven challenging due to the intricate interplay of genetic and environmental factors and the variety of molecular pathways affected. Epigenomic alterations have emerged as key players in ASD etiology. Their research has led to the identification of biomarkers for diagnosis and pinpointed specific gene targets for therapeutic interventions. This review examines the role of epigenetic alterations, resulting from both genetic and environmental influences, as a central causative factor in ASD, delving into its contribution to pathogenesis and treatment strategies. [ABSTRACT FROM AUTHOR]

There have been significant advances in the medical and surgical options available for contraception and management of menses for individuals, including those with intellectual developmental disorder. This new statement frames the ethical, legal, and medical issues of permanent contraception in children, adolescents, and young adults with intellectual developmental disorder, emphasizing the importance of utilizing long-acting reversible and minimally invasive treatments, whenever possible. The historical use and abuse of permanent contraception is briefly reviewed, providing the foundation for ongoing ethical and legal considerations, including issues of informed consent. The authors then discuss medical decision-making and patient preferences that should be considered and make recommendations to providers who are contemplating permanent contraception therapies in this population. [ABSTRACT FROM AUTHOR]

Purpose: To systematically review the research relating to views and experiences of people with disability eating out in cafés, restaurants, and other settings; and identify factors that impede or enhance accessibility of eating out experiences, inform future inclusive research, and guide policy development. Materials and Methods: This study involved systematic search and review procedures with qualitative metasynthesis of the barriers to and facilitators for participation and inclusion in eating/dining-out activities. In total, 36 studies were included. Results: Most studies reviewed related to people with physical or sensory disability eating out, with few studies examining the dining experiences of adults with intellectual or developmental disability, swallowing disability, or communication disability. People with disability encountered negative attitudes and problems with physical and communicative access to the venue. Staff lacked knowledge of disability. Improvements in the design of dining spaces, consultation with the disability community, and staff training are needed. Conclusion: People with disability may need support for inclusion in eating out activities, as they encounter a range of barriers to eating out. Further research within and across both a wide range of populations with disability and eating out settings could guide policy and practice and help develop training for hospitality staff. IMPLICATIONS FOR REHABILITATION: Some people with disability require support for increased self-determination and self-advocacy to access eating out experiences satisfactorily. Goals and strategies to increase access and participation in eating out activities for people with disability should include attention to the environment and hospitality venues and to staff training. Rehabilitation professionals have a role in training hospitality staff about disability access and inclusion in eating out activities. To enhance community inclusion and participation, rehabilitation professionals could focus more on the skills and strategies needed for people with disability to participate in eating out activities. Rehabilitation professionals could implement a range of facilitators that might strengthen participation in eating out activities for people with disability. [ABSTRACT FROM AUTHOR]

Patient-reported experience measures (PREMs) collect essential data for service and system-wide quality improvement and performance monitoring toward value-based care. However, the experiences of people with intellectual disability, who have high healthcare utilization couple with poorer outcomes, are often omitted from system-wide PREMs and service-wide PREMs data. The use of PREMs instruments for data collection among people with intellectual disability has not been explored. This review aimed to identify and synthesize measurement tools and approaches that have been used to gather patient-reported experience data from people with intellectual disability. Rapid evidence assessment was used, in which comprehensive search strategies were applied to electronic databases and gray literature. Narrative synthesis was used with the included articles to address the review aim. A total of 48 documents were included; 26 peer-reviewed journal articles and 22 articles from gray literature. Patient-reported experiences have been gathered from people with intellectual disabilities in relation to specific services or encounters, predominantly using qualitative methods. To date, there is an absence of targeted service- or system-wide surveys. Existing clinic- and condition-specific instruments provide insight for broader application. Patient experience assessment among people with intellectual disability requires consideration of (1) how individuals are identified and approached, (2) the content, design and structure of measurement instruments, and (3) the process by which data are collected, and (4) how it may be applied to create change. Despite the collection of patient experience data from people with intellectual disability, there is little research available about how this information is later used to support health service improvement. Applying PREMs for quality improvement is critical to realize the improvements to healthcare provision required for people with intellectual disability toward equitable care quality. • Patient-reported experience measures (PREMs) are used to understand, benchmark, and target issues of quality improvement across health services. Despite experiencing some of the poorest healthcare quality and outcomes, PREMs are rarely used with people with intellectual disability because of the lack of suitable data collection tools and methods. • Methods are tools to elicit patient-reported experience data among people with intellectual disability are available, but no single PREMs tool has been developed that captures experiences beyond a specific condition or service. • The methods and tools available provide insight into how health services and systems might create suitable PREMs tool for people with intellectual disability toward routine data capture for benchmarking and organization- or system-wide improvement work. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to examine the effects of Functional Reading Activities to Motivate and Empower (FRAME) on use of reading comprehension strategies in intellectually and/or developmentally disabled young adults. Method: A single-case, multiple-probe design across functional literacy stimuli (e.g., text messages, e-mails) was replicated across three intellectually or developmentally disabled 23- to 26-year-old young adults, all of whom had a primary diagnosis of autism. Within FRAME, reading comprehension strategies were taught and practiced within the context of functional texts or activities of daily living that involve written language (e.g., text messages, e-mails). Each session followed the teach-model-coach-review approach and was conducted via telepractice. Participants’ use of reading comprehension strategies was measured in baseline, intervention, maintenance, and with generalization probes. Results: Visual analysis of the data indicated a functional relation between FRAME and the use of reading comprehension strategies for two of the three autistic young adults. All participants maintained increased use of reading comprehension strategies post-intervention. Conclusions: This study provides preliminary evidence that FRAME is associated with improved use of reading comprehension strategies that maintains over time. Thus, FRAME has the potential to support continued improvement of functional reading skills throughout the lifespan, which is critical as autistic individuals make the transition from adolescence to adult life. Further research is needed to evaluate the effects of the intervention on more distal outcomes of written language and to examine how to best tailor the intervention to individual differences to optimize outcomes. [ABSTRACT FROM AUTHOR]

MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three AP1S1 nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated σ1A proteins, with consequent AP-1 dysfunction. However, two AP1S1 missense variants (c.269 T > C and c.346G > A) were recently reported in patients who presented with severe enteropathy but no additional symptoms of MEDNIK. This condition was described as a novel non-syndromic form of congenital diarrhea caused specifically by the AP1S1 missense variants. In this study, we report two patients with the same c.269 T > C variant, who, contrary to the previous cases, presented as complete MEDNIK syndrome. These data substantially revise the presentation of disorders associated with AP1S1 gene variants and indicate that all the identified pathogenic AP1S1 variants result in MEDNIK syndrome. We also provide a series of functional analyses that elucidate the impact of the c.269 T > C variant on σ1A function, contributing to a better understanding of the molecular pathogenesis of MEDNIK syndrome. Key messages: A missense AP1S1 c.269 T > C (σ1A L90P) variant causes full MEDNIK syndrome. The σ1A L90P variant is largely unable to assemble into the AP-1 complex. The σ1A L90P variant fails to bind [DE]XXXL[LI] sorting motifs. The σ1A L90P variant results in loss-of-function of the protein. [ABSTRACT FROM AUTHOR]

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited. Following the discovery of a homozygous pathogenic variant in a girl with SPG62, presenting with intellectual disability, and epilepsy, we gathered the largest series of SPG62 cases reported so far (13 individuals) to better understand the phenotype associated with ERLIN1. We collected molecular and clinical data for 13 individuals from six families with ERLIN1 biallelic variants. We performed RNA-seq analyses to characterize intronic variants and used Alphafold and a transcripts database to characterize the molecular consequences of the variants. We identified three new variants suspected to alter the bell-shaped ring formed by the ERLIN1/ERLIN2 complex. Affected individuals had childhood-onset paraparesis with slow progression. Six individuals presented with gait ataxia and three had superficial sensory loss. Aside from our proband, none had intellectual disability or epilepsy. Biallelic pathogenic ERLIN1 variants induce a rare, predominantly pure, spastic paraparesis, with possible cerebellar and peripheral nerve involvement. [ABSTRACT FROM AUTHOR]

Workforce issues are central to the changes necessary to create safer and higher-quality services for people with intellectual disabilities. This article examines the Disability Royal Commission's (the Commission) workforce recommendations relating to the disability services sector, which has been beset by chronic workforce problems since the introduction of the National Disability Insurance Scheme (NDIS). We describe the rich evidence in the Commission's Final Report and its analysis of key issues such as work value, disability worker qualifications, training, and worker registration. Many of these issues are especially relevant to people with intellectual disabilities, who need sophisticated, highly skilled support provided by experienced workers, characteristics that can be scarce in a high-turnover industry with persistent labour shortages and almost no barriers to entry. However, the Commission ultimately backs away from making recommendations on the most controversial issues, including the price-setting matrix for disability support services, known as the Disability Support Worker Cost Model. Unchanged, this will continue to constrain the sector's ability to create high-quality working environments conducive to continuous learning that will support people with intellectual disabilities in the way they want to be supported. [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]

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]

People with intellectual disabilities find it difficult to find meaningful work, to feel safe in the workplace, and to feel like they belong. In this article, two self-advocates with intellectual disabilities and two of their supporters discuss what meaningful work for people with intellectual disabilities means to them. Several recommendations from the Royal Commission into Violence, Abuse, Neglect and Exploitation (the Commission)) on employment for people with disabilities are discussed. The authors also call for better working conditions, more choice in the types of employment, and equitable wages. The Australian Government needs to have a vision of employment for people with intellectual disabilities and they need to involve people with intellectual disabilities in making the changes that are needed. [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]

People with intellectual disabilities can be abused in all settings: homes, communities, and services. Reducing this abuse requires attention be paid to people who are engaged with people with intellectual disabilities, who were largely overlooked by a neoliberal inquiry focused on individuals. Displacing neoliberalism has been further impeded by its recent combination with social media, which has engendered "cultural homogenisation": the further spread and sustenance of the same ideas. This article aims to offer a fundamental critique of the Disability Royal Commission's (the Commission) inquiry by revealing the way neoliberal ideology has shaped its recommendations; and to identify positive alternatives. Arguments: (1) Neoliberal individualism is a powerful but invisible doctrine. Its focus on choice and autonomy has generated concern to provide accessible information, irrespective of its feasibility; and concern to eliminate restrictive practices, irrespective of equally important needs of staff and parents. (2) "Datafication" intended to monitor and improve otherwise unregulated markets is expensive, ineffective, and impedes engagement. (3) The only meaningful adult life envisaged is paid work, despite a meagre and shrinking number of people with intellectual disabilities obtaining jobs. (4) The limitations of a legal inquiry are identified. (5) Alternatives to the promotion of voice, choice, and work are explored. Exhausted neoliberal ideology led the Commission astray. Rather than continuing to enact neoliberal solutions, two different initiatives that are more likely to disrupt the status quo are proposed: replacing legal intervention with public health approaches to reducing violence in all settings; and developing new "counter-publics" of fun and belonging that connect people and their consociates. [ABSTRACT FROM AUTHOR]

People with intellectual disabilities are at increased risk of pleading guilty to crimes of which they are partially or entirely innocent, in part due to concerns about being detained indefinitely if found unfit to plead. The Disability Royal Commission (the Commission) raised concerns about current legislation that allows for indefinite detention, due to both its unfairness by potentially increasing time served, but also its capacity to induce a person to waive their right to contest charges at trial. As a result, the Commission has recommended that the National Statement of Principles Relating to Persons Unfit to Plead Not Guilty by Reason of Cognitive or Mental Health Impairment be reviewed, and indefinite detention repealed from legislation. In addition, the Commission has recommended that access to court diversion programs be increased to reduce the number of people with intellectual disabilities involved in the criminal justice system at the pre-sentencing stage. While the Commission has outlined the reasoning behind these recommendations, it has not explicitly mentioned one of the key benefits these recommendations may also provide—that of a reduction in false guilty pleas by people with intellectual disabilities and the subsequent reduction in likelihood of wrongful conviction. Therefore, this article considers what factors influence false guilty pleas by people with intellectual disabilities, and whether the Commission's recommendations can be linked to the possible reduction of wrongful convictions via false guilty pleas. [ABSTRACT FROM AUTHOR]

The Final Report of the Disability Royal Commission (the Commission) takes a largely generic view of disability and does not fully consider the complex experiences and needs of people with intellectual disabilities and the unique ways that families can contribute to the fulfilment of their lives. The aim of this article is to fill this gap by highlighting the importance of the family context, the "informal supports" or "natural safeguards" provided by many families, and the contributions these relationships make to the safety and inclusion of people with intellectual disabilities. Given the significance of family relationships for this group, it is unfortunate that the Commission's recommendations pay limited attention to the considerable value family relationships add to the lives of people with intellectual disabilities, especially sibling relationships, which can last a lifetime. The Commission's recommendations provide little that contributes towards strengthening or enabling families to better support their relatives with intellectual disabilities, or that promotes recognition of the complications that can arise in these relationships and how they might be avoided. The Report often fails to recognise the potential for families of people with intellectual disabilities to keep them safe, facilitate social encounters within their local communities, and minimise challenges, such as negative attitudes, to their inclusion. I argue that the "human rights approach" alone cannot fully address the specific challenges that people with intellectual disabilities and their families face. Policies, supports, and services could provide more tailored approaches to ensure stronger relationships, greater social inclusion, and improved safety for people with intellectual disabilities and the families who support them. [ABSTRACT FROM AUTHOR]