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The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5 untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

Introduction: Occupational therapists use standardised scales and measures to assess an individual's sensory processing factors. To date, few studies have investigated the correlations between the Adolescent/Adult Sensory Profile (A/ASP) and the Sensory Processing Measure 2–Adult Form (SPM‐2‐Adult). The aim of the project is to investigate the association between the sensory processing factors measured by the A/ASP and SPM‐2‐Adult when completed by the same group of adult participants, with an additional research question investigating whether any significant differences existed between sensory processing scores based on participants' self‐reported gender identity. Methods: Forty‐two adults aged 18–30 completed the A/ASP and the SPM‐2‐Adult. Associations between the A/ASP quadrant and the SPM‐2‐Adult subscales were examined using Spearman's rho correlation coefficients, and differences between participants based on their self‐reported gender identity were investigated using Mann–Whitney U tests. Results: Statistically significant correlations were obtained between the A/ASP Low Registration, Sensory Sensitivity, and Sensation Avoiding quadrant subscales and all nine of the SPM‐2‐Adult subscales ranging from weak (rho = 0.342, p < 0.027) to strong (rho = 0.790, p < 0.001) correlations. The A/ASP Sensation Seeking quadrant subscale was only significantly correlated with the SPM‐2‐Adult Social Participation subscale (rho = −0.416, p = 0.006). Three subscales had statistically significant differences based on gender identity: SPM‐2‐Adult Vision (p = 0.007), SPM‐2‐Adult Sensory Total (p = 0.048), and A/ASP Sensory Sensitivity (p = 0.043). Consumer and Community Involvement: Consumers and community members were not involved in the design, execution, or write‐up of the study results. Conclusion: The A/ASP and the SPM‐2‐Adult had several subscales that were significantly correlated with one another. Of note, significant associations were achieved between the A/ASP Low Registration, Sensory Sensitivity, and Sensation Avoiding quadrant subscales and all nine of the SPM‐2‐Adult subscales. These findings make a significant preliminary contribution to the psychometric body of evidence related to the sensory processing assessment of adults. PLAIN LANGUAGE SUMMARY: Occupational therapists use scales to assess adults' sensory processing skills. Few studies have looked at the correlations (associations) between the Adolescent/Adult Sensory Profile (A/ASP) and the Sensory Processing Measure 2–Adult Form (SPM‐2‐Adult) subscales. This project examined the correlations between commonly used sensory processing scales and explored if there were differences based on adult participants' gender identity. Forty‐two adults aged 18–30 years completed the A/ASP and the SPM‐2‐Adult. Correlations between the A/ASP quadrant and the SPM‐2‐Adult subscales were examined using statistics. The results identified significant associations between the A/ASP Low Registration, Sensory Sensitivity, and Sensation Avoiding quadrant subscales and all nine of the SPM‐2‐Adult subscales. Three subscales had statistically significant differences based on participants' gender identity: SPM‐2‐Adult Vision, SPM‐2‐Adult Sensory Total, and A/ASP Sensory Sensitivity. Implications and Conclusions: The A/ASP and the SPM‐2‐Adult had several subscales that were significantly correlated with one another. These findings contribute to the knowledge about adult sensory processing assessments for an Australian context. They will help occupational therapists when working with adults to choose which assessment is best to use with the individual client. Strengths and Limitations: Study strengths include the use of standardised data collection tools and following ethical principles when conducting the study. Study limitations were the small sample size and recruiting volunteer participants which can influence bias. [ABSTRACT FROM AUTHOR]

Introduction Methods Consumer and Community Involvement Results Conclusion PLAIN LANGUAGE SUMMARY Paediatric occupational therapists assess and provide intervention for children presenting with sensory processing challenges that impact their daily occupational performance. Interoception, the ability to sense internal body signals, is an emerging practice area, yet it remains unclear how and why paediatric clinicians are applying interoception and related concepts in practice.A scoping review was conducted to report on the current body of published literature related to interoception and its application to paediatric occupational therapy practice. A comprehensive search of 10 electronic databases and related grey literature was conducted. Title and abstract screening were completed prior to full‐text review of evidence. The PRISMA‐ScR Checklist and the Crowe Critical Appraisal Tool were used to support a systematic scoping review process and increase robust extraction and appraisal of data. Narrative synthesis was used to analyse and synthesise data.No consumer and community involvement.A total of 18 articles were included in this review, including original research articles (n = 8), published books (n = 4), theses/dissertations (n = 3), opinion pieces (n = 2), and one government document. Narrative synthesis analysis identified six themes: (1) occupational therapy principles relevant to interoception, (2) what is interoception?, (3) assessment of interoception, (4) clinical application of interoception, (5) clinical populations receiving interoception‐based intervention, and (6) relationships between interoception and other performance components. Findings indicated that paediatric occupational therapists are integrating interoception concepts alongside occupational therapy principles to inform assessment and intervention processes. Several assessments and interventions are utilised to support children; however, evidence to strengthen use is lacking. Further, there are limited occupation‐based assessments and intervention programs to address interoception deficits in children.Findings from this scoping review contribute to the emerging body of empirical evidence related to interoception and paediatric occupational therapy practice. These findings provide an informed basis for practice and research by occupational therapists in this area.Interoception allows us to feel what is going on inside our body and helps us to notice how our body might be feeling (e.g. if our stomach grumbles, we might feel hungry; if our heart is beating very fast, we might feel scared; if we are sweating, our body is feeling overheated). Some children may present with problems recognising interoceptive feelings in their bodies. Therefore, occupational therapists can help children learn about their own interoception related to their bodies. This is a new topic for therapists, and they need to know more about it so that they best help children and their families. There is not a lot of information about how to use interoception in occupational therapy practice, and we wanted to know what information already exists about interoception and occupational therapy. This review provides a summary of the current knowledge that is available and summarises it. Some information about interoception and how it relates to occupational therapy services with children was found, but more research knowledge about this topic is needed. [ABSTRACT FROM AUTHOR]

Consequences of brachial plexus injuries (BPI) would likely impact participation, but outcomes are not well understood. This exploratory study aimed to report the participation in productive, leisure and social roles for individuals following BPI. Fourteen male participants were diagnosed with a traumatic, BPI. Descriptive data reported included demographic, injury, surgical, and participation measures. Two-sample t-tests were conducted for comparative analysis with other studies following life altering conditions. Just over two-thirds reported feeling satisfied to very satisfied with their participation in everyday life. This long-term follow up study found on-going and profound impact on participation in a range of life situations for this diagnostic group. Participation in productive roles, home duties, and physical exercise were particularly impacted and need to be prioritized during rehabilitation. [ABSTRACT FROM AUTHOR]

Introduction: The Sensory Processing Measure 2 (SPM2) and the Sensory Profile 2 (SP2) are two sensory processing scales often used by occupational therapists. The SPM2 and SP2 both claim to assess aspects of children's sensory processing. This cross‐sectional study examined the convergent validity of the SPM2‐Home Form (SPM2‐HF) and Child SP2 for school‐aged neurotypical children. Methods: Thirty parents/caregivers of neurotypical children aged 7 to 12 completed the SPM2‐HF and the Child SP2 about their child. Spearman rho's correlation coefficient with bootstrapping was used to investigate the correlations among the sensory, behavioural, and quadrant scores of the Child SP2 and SPM2‐HF subscale scores. Consumer and Community Involvement: Given the topic, consumers and community members were not involved in the design, execution, or write up of the study results. Results: Several statistically significant correlations were found between the sensory and quadrant subscales of the Child SP2 with the SPM‐HF. Strong to moderate correlations were established between the sensory subscales of the Child SP2 and the SPM2‐HF, ranging from 0.40 to 0.74 (p < 0.05). Additionally, correlations between the quadrant subscales of the Child SP2 and the subscales of the SPM2‐HF ranged from weak (0.38) to strong (0.77) correlations (p < 0.05). Conclusion: These results provide evidence of convergent validity between the SPM2‐HF and Child SP2 for neurotypical school‐aged children. Further research on the psychometric properties of the SPM2‐HF and Child SP2 is recommended. PLAIN LANGUAGE SUMMARY: The Sensory Processing Measure 2 (SPM2) and the Sensory Profile 2 (SP2) are two scales used by occupational therapists to assess aspects of children's sensory processing. This study looked at the relationship between the SPM2‐Home Form (SPM2‐HF) and Child SP2 for healthy school‐aged children. Thirty parents/caregivers of children aged 7–12 years completed the SPM2‐HF and the Child SP2 about their child. Correlations between the Child SP2 and SPM2‐HF subscale scores were examined using statistics. Consumers and community members were not involved in completing the project or writing the project results. Several statistically significant correlations, ranging from 0.38 to 0.77, were found between the Child SP2 and the SPM‐HF subscales. The Child SP2 and the SPM‐HF had several subscales that were significantly correlated with one another. These findings contribute to the knowledge about children's sensory processing assessments and will help occupational therapists when working with children and their families. Study limitations were the small sample size and recruiting volunteer participants which can influence bias. Strengths of the study include the use of standardised data collection tools and following ethical principles when conducting all phases of the study. [ABSTRACT FROM AUTHOR]

Fieldwork is a core element of health professional and education student training that is often a professional registration and practice requirement. There are many personal, social, and professional factors that impact on students’ fieldwork performance. The impact of professionalism, resilience, and reflective thinking on fieldwork performance is not well described in the literature.

To investigate if first-year occupational therapy students who have had no on-campus, face-to-face learning experiences differed from second-, third- and fourth-year students in their perceptions and experiences of online learning during the Covid-19 pandemic.

This study evaluates the efficacy of a school-based social cognitive intervention for children with autism. Seventy-four children and adolescents were taught visually scaffolded, theory of mind-based social skills program. Using a mixed-methods approach, children's social competence was assessed at pre-test and post-test. Compared to a waitlist control group, children in the intervention group demonstrated significantly greater gains on theory-of-mind and social skill measures. Focus groups and interviews were conducted to explore parents' views and generalization of children's social skills across settings. Children's social participation exhibited improvement in home, community, and school settings. The study findings offer promising evidence for a cost-effective program and support of the school-based social skills intervention for children with ASD in Hong Kong context., Author(s): Phoebe P. P. Cheung [sup.1] , Ted Brown [sup.2] , Mong-lin Yu [sup.2] , Andrew M. H. Siu [sup.1] Author Affiliations: (1) grid.16890.36, 0000 0004 1764 6123, Department of [...]

The COVID-19 pandemic triggered the mass transition of tertiary education to virtual delivery or a hybrid learning approach. This scoping review aims to identify the nature and extent of the current literature on how the COVID-19 pandemic impacted the allied health student education experience and the delivery of teaching and learning materials. A scoping review, performed following the PRISMA-ScR guidelines, was conducted for standard databases and the grey literature published after 2019 that focused on allied health education. Study quality was critically appraised and narrative analysis was performed. Of 6,509 papers identified frorn the literature search, a total of 68 articles were selected for data extraction. Out of the final 68 studies selected for inclusion in the scoping review, all universities were impacted by the transition to virtual or hybrid learning. Students reported that virtual learning increased flexibility and examinations were considered less stressful. Negative aspects of virtual learning were health issues such as anxiety and depression, technical difficulties, and the lack of interaction with peers and educators. Overall, the studies included in the scoping review reported that allied health students preferred conventional face-to-face learning opportunities over virtual learning experiences. High student satisfaction levels in institutions using a hybrid approach were common. Further research is needed on a wider range of educational experiences (e.g., placements and academic performance). [ABSTRACT FROM AUTHOR]

This paper aims to provide an overview and critique of the newly updated Sensory Processing Measure – second edition (SPM-2) to assist clinicians in understanding its strengths and limitations and in selecting an appropriate sensory processing scale that best meets their clients' needs. Using four established research methodological quality critique tools, the SPM-2's family of age-related versions was evaluated by administering the tools separately and discussed their scoring and findings to reach a consensus on all ratings. The tools identified several strengths and weaknesses of the SPM-2. The SPM-2's items on its age-related versions scored well in the criteria of internal consistency, test-retest reliability, explanation of the instrument design, construct validity, content validity, criterion validity and ease of administration, and scoring. However, a lack of normative data for participant groups outside of the United States, methodological limitations, and a lack of investigation into some important psychometric properties, particularly responsiveness, were identified as notable weaknesses of the SPM-2's items on its age-related versions based on the critique criteria. Overall, despite the areas needing further development and investigation, the SPM-2 is considered a psychometrically sound tool that provides a reliable and valid approach to measuring aspects of the sensory processing construct across the lifespan. [ABSTRACT FROM AUTHOR]