Pubmed du 29/09/23
1. Agnew Z, Callaway L, Lalor A, Peart A, Bould E. ‘Having the dog as part of our family gives us hope’: Experiences of the impact of assistance dogs on the occupational engagement of children with autism and their families. Australian occupational therapy journal. 2023.
BACKGROUND: Autism is a developmental disorder characterised by changes in social, communication, and behavioural performance. Assistance dogs can support children with autism to engage in everyday occupations. Despite more children being partnered with assistance dogs, there is limited research regarding the impact of assistance dogs on the occupational engagement of children with autism and their families, and further research is needed to fully understand the impact of this type of support within the Australian context. OBJECTIVES: To explore caregiver-reported experiences of an assistance dog on the occupational engagement of children with autism and their families. METHOD: Using a qualitative approach, semi-structured interviews were undertaken with six caregivers of seven children with autism, who each had an assistance dog. Interviews ranged from 45 to 60 minutes in duration. Data were transcribed verbatim and thematically analysed. Trustworthiness was maximised through independent recruitment, research team discussions, member checking, and a researcher reflective journal. FINDINGS: Three themes were identified: participation in everyday occupations prior to and after partnering with an assistance dog, increased engagement in everyday occupations, and impact of the assistance dog on the family unit. Assistance dogs were reported to progress children from community ‘isolation’ to ‘freedom’. Participants reported the dog increased children’s capacities through positively influencing completion of routines, increasing independence, and improving therapy engagement. Assistance dogs were viewed as supporting the whole family’s occupational engagement. Some challenges were identified with the introduction of the assistance dog to the family unit, and with animal maintenance costs and time demands, public access rights, and limited government funding. CONCLUSION: This research identifies benefits and challenges for children who partner with autism assistance dogs. It provides insights to inform assistance animal referral, assessment, and support of assistance dogs in Australia for children with autism and occupational therapists working with them.
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2. Bobbette NJ, Lysaght R, Ouellette-Kuntz H, Tranmer J, Donnelly C. Stakeholder Perspectives on Interprofessional Primary Care for Adults With Intellectual and Developmental Disabilities in Ontario, Canada. Intellectual and developmental disabilities. 2023; 61(5): 349-67.
Access to high-quality primary care has been identified as a pressing need for adults with intellectual and developmental disabilities (IDD). Interprofessional primary care teams offer comprehensive and coordinated approaches to primary care delivery and are well-positioned to address the needs of adults with IDD. The overall aim of this article is to describe the current provision of interprofessional primary care for adults with IDD from the perspectives of patients, caregivers, and health providers. Results provide important insights into the current state of practice and highlight a critical need for further work in the field to develop processes to engage in team-based care and demonstrate the value of the approach for this population.
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3. Brabec M, Constable PA, Thompson DA, Marmolejo-Ramos F. Group comparisons of the individual electroretinogram time trajectories for the ascending limb of the b-wave using a raw and registered time series. BMC research notes. 2023; 16(1): 238.
OBJECTIVES: The electroretinogram is a clinical test commonly used in the diagnosis of retinal disorders with the peak time and amplitude of the a- and b-waves used as the main indicators of retinal function. However, subtle changes that affect the shape of the electroretinogram waveform may occur in the early stages of disease or in conditions that have a neurodevelopmental or neurodegenerative origin. In such cases, we introduce a statistical approach to mathematically model the shape of the electroretinogram waveform that may aid clinicians and researchers using the electroretinogram or other biological signal recordings to identify morphological features in the waveforms that may not be captured by the time or time-frequency domains of the waveforms. We present a statistical graphics-based analysis of the ascending limb of the b-wave (AL-b) of the electroretinogram in children with and without a diagnosis of autism spectrum disorder (ASD) with a narrative explanation of the statistical approach to illustrate how different features of the waveform based on location and scale derived from raw and registered time series can reveal subtle differences between the groups. RESULTS: Analysis of the raw time trajectories confirmed findings of previous studies with a reduced and delayed b-wave amplitude in ASD. However, when the individual time trajectories were registered then group differences were visible in the mean amplitude at registered time ~ 0.6 suggesting a novel method to differentiate groups using registration of the ERG waveform.
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4. Burke MM, Cheung WC, Kim J. Understanding the Effectiveness and Feasibility of a Family Navigator Program for Parents of Children With Autism. Intellectual and developmental disabilities. 2023; 61(5): 426-39.
Systems navigation can be difficult, especially for low-resourced families (i.e., families who are « low income » or meet one of the following indicators: mother has a high school diploma or less; primary caregiver is unemployed; or the family receives governmental assistance). Navigators may help families access services; however, the training of navigators is unclear. The purpose of this study was to determine the effectiveness and feasibility of Supporting Parents to Access and Navigate Services (SPANS), a program to develop navigators. Altogether, 19 low-resourced parents of children with autism participated in SPANS. Participants demonstrated significantly improved knowledge about autism services and perceived advocacy for other families and systemic change. There was high attendance, low attrition, high acceptability, and high fidelity. Implications are discussed.
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5. Chen YR, Ng DY, Tseng MH, Bundy A, Cordier R. The impact of coping behaviors on perceived competence and social anxiety in the everyday social engagement of autistic adolescents. Autism : the international journal of research and practice. 2023: 13623613231196773.
Individuals who cope well with challenges may engage in social situations more successfully. We examined how well autistic adolescents coped, depending on how competent they felt and how much anxiety they experienced during social activities. We included 133 individuals (82 autistic, 51 neurotypical) between the ages of 10 and 16 years. Participants carried a mobile device that prompted them seven times a day for 7 days to record what they were doing, how competent they felt and how much anxiety they experienced. We used the Coping Inventory to understand how well participants coped with environmental challenges and met their needs for growth. Autistic adolescents were more likely than neurotypical peers to feel anxious while doing activities with adults. Autistic adolescents who had more difficulty coping with challenges were more likely to feel anxious when doing leisure activities with peers. Interestingly, autistic adolescents who coped better with challenges tended to feel less competent in social situations. However, those better able to meet their needs for growth tended to perceive their social competence positively. These findings can help practitioners develop strategies and programs to reduce the negative social experiences of autistic adolescents by helping them cope better.
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6. Hasib RA, Ali MC, Rahman MH, Ahmed S, Sultana S, Summa SZ, Shimu MSS, Afrin Z, Jamal M. Integrated gene expression profiling and functional enrichment analyses to discover biomarkers and pathways associated with Guillain-Barré syndrome and autism spectrum disorder to identify new therapeutic targets. Journal of biomolecular structure & dynamics. 2023: 1-23.
Guillain-Barré syndrome (GBS) is one of the most prominent and acute immune-mediated peripheral neuropathy, while autism spectrum disorders (ASD) are a group of heterogeneous neurodevelopmental disorders. The complete mechanism regarding the neuropathophysiology of these disorders is still ambiguous. Even after recent breakthroughs in molecular biology, the link between GBS and ASD remains a mystery. Therefore, we have implemented well-established bioinformatic techniques to identify potential biomarkers and drug candidates for GBS and ASD. 17 common differentially expressed genes (DEGs) were identified for these two disorders, which later guided the rest of the research. Common genes identified the protein-protein interaction (PPI) network and pathways associated with both disorders. Based on the PPI network, the constructed hub gene and module analysis network determined two common DEGs, namely CXCL9 and CXCL10, which are vital in predicting the top drug candidates. Furthermore, coregulatory networks of TF-gene and TF-miRNA were built to detect the regulatory biomolecules. Among drug candidates, imatinib had the highest docking and MM-GBSA score with the well-known chemokine receptor CXCR3 and remained stable during the 100 ns molecular dynamics simulation validated by the principal component analysis and the dynamic cross-correlation map. This study predicted the gene-based disease network for GBS and ASD and suggested prospective drug candidates. However, more in-depth research is required for clinical validation.Communicated by Ramaswamy H. Sarma. 17 common differentially expressed genes (DEGs) were identified from 693 DEGs of the GBS dataset (GSE72748) and 365 DEGs of the ASD dataset (GSE113834), which is the preliminary part of this investigation.From the PPI network analysis, a total of 10 hub genes were identified and two common DEGs named CXCL9 and CXCL10 were found in both the hub gene and essential module analysis.The identified leading pathways and GO pathways, TF-gene interaction, and TF-miRNAs network has made the process more relevant and appropriate for suggesting probable drug candidates.Among the drug candidates, imatinib was suggested as the main drug candidate due to its interaction with the hub gene CXCL9 and CXCL10 and lower p value than the other candidates. It showed the highest binding affinity score and remained stable with the CXCR3 chemokine receptor. eng.
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7. Huang S, Lehr DH, Rossetti Z, Wang M. Individualizing Instruction for Students With Intellectual and Developmental Disabilities in China: Teachers’ Perceptions and Practices. Intellectual and developmental disabilities. 2023; 61(5): 385-98.
This study investigated Chinese special education teachers’ perceptions and practices of individualizing instruction for students with intellectual and developmental disabilities (IDD). Semistructured interviews were conducted with 31 teachers who taught elementary Chinese language arts and math in six public special education schools for students with IDD in Shanghai. In addition, lesson plans written by 19 of the 31 teachers were collected. Thematic analysis revealed that teachers recognized the necessity of adapting instruction. However, practices and beliefs associated with one-size-fits-all approaches to teaching were prevalent. Although all teachers described making efforts to address individual differences, these efforts appeared to be inadequate. Teachers perceived fully addressing the needs of individual students as difficult and described challenges in four areas.
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8. Huyst V, Dewinter J, Noens I, Platteau T, Tsoumanis A. Measuring the prevalence of autistic traits in a cohort of adults living with HIV or taking HIV pre-exposure prophylaxis and mapping safer-sex barriers and facilitators: a study protocol. BMJ open. 2023; 13(9): e075667.
INTRODUCTION: Autistic individuals identify with a wider range of sexual orientations than non-autistic individuals, including higher rates of bisexual orientation in autistic men. Gay, bisexual and other men who have sex with men are at greater risk for HIV. Prevalence data of autistic traits in people living with HIV or using Pre-Exposure Prophylaxis (PrEP) for HIV are lacking so far. Such data, combined with insights in barriers and facilitators for safer sex in autistic people living with HIV or using PrEP, are a first step to improve health support for autistic people in HIV clinics. This support is crucial since autistic individuals have worse physical and mental health outcomes. The objective of this research is to determine the prevalence of autistic traits within the group of people living with HIV or using PrEP in Belgium and to describe specific facilitators and barriers for sexual safer behaviour in people living with HIV and PrEP users with autistic traits. METHODS AND ANALYSIS: The research is a cross-sectional, observational and multicentre study with recruitment of individual participants. The research consists of two phases. In phase 1, adults coming for HIV/AIDS care or HIV PrEP in participating Belgian HIV Reference Centres will be invited to fill in the validated Autism Spectrum Quotient questionnaire. In phase 2, participants with a score above the predefined cut-off for autistic traits (>26), who agreed to be informed about this score, will be invited to complete an additional survey, inquiring facilitators and barriers for sexual safer behaviour. ETHICS AND DISSEMINATION OF RESULTS: Institutional Review Board Institute of Tropical Medicine Antwerp, 25 July 2022, REF 1601/22 and University Hospital of Antwerp, 12 September 2022, Project ID 3679: BUN B3002022000111. Study results will be published in peer-reviewed journals and presented to Belgian HIV Reference Centres and at conferences.
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9. Islam A, Ronco A, Becker SM, Blackburn J, Schittny JC, Kim K, Stein-Wexler R, Wexler AS. Can lung airway geometry be used to predict autism? A preliminary machine learning-based study. Anatomical record (Hoboken, NJ : 2007). 2023.
The goal of this study is to assess the feasibility of airway geometry as a biomarker for autism spectrum disorder (ASD). Chest computed tomography images of children with a documented diagnosis of ASD as well as healthy controls were identified retrospectively. Fifty-four scans were obtained for analysis, including 31 ASD cases and 23 controls. A feature selection and classification procedure using principal component analysis and support vector machine achieved a peak cross validation accuracy of nearly 89% using a feature set of eight airway branching angles. Sensitivity was 94%, but specificity was only 78%. The results suggest a measurable difference in airway branching angles between children with ASD and the control population.
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10. Kahveci G, Caylak E, Kara DN. The effect of the home environment on children with autism spectrum disorder. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2023.
The estimated prevalence of autism spectrum disorders (ASD) is 1% worldwide. Autistic individuals typically have a high level of sensitivity to the various environmental stimuli (smell, noise, light). These stimuli have a positive or negative influence on the person-environment interaction, and an excess of stimuli may create inappropriate or unanticipated behavioral responses (such as a crisis) effecting their well-being. The Model of Competence, which provides an explanation of the interaction between the individual and the environment, was selected as the conceptual framework to direct this study. The purpose of this study is to investigate the opinions and experiences of mothers regarding the influence of the characteristics of the home environment on autistic individuals. A qualitative interpretative description design was utilized for this study’s framework. Participants in the study were mothers who have autistic children. The study with focus groups was continued until data saturation was reached. There was a thematic investigation carried out. The findings show that the factors that have an effect on autistic individuals can be categorized into several subsets like sensory, routines, and physical environment. Despite the fact that the home setting is often a secure and consistent environment, these aspects were identified as crucial. Consequently, one should give some thought to the consequences that this could have in other settings where it would be harder to exercise control. The identification of these factors and the impact they have enables a better understanding of the interaction between an autistic individual and their environment and serves to guide professionals in their interventions.
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11. Krahn G, Cargill-Willis K, Bersani L, Moore T, Johnson J. Recruiting the Voices of Persons With Intellectual and Developmental Disabilities in Policy Development: Priorities for Health Equity Data. Intellectual and developmental disabilities. 2023; 61(5): 368-84.
Through focus groups, adults with intellectual and developmental disabilities (IDD) provided their priorities for health equity data, surveys, and information dissemination by U.S. federal agencies. Participants reported privacy concerns about sharing information, need for better data to promote access to quality health care and services, and need for information on social contexts that influence quality of life. Data should include functional limitations, health risks, and priorities for health care, and should support choice and self-determination. Adults with IDD believe parents or support persons do not always share their views, raising concerns about proxy reporting. Surveys and information need to use clear language, visual aids, and provide neutral supports. Information should be shared broadly, including to persons with IDD and families, health care professionals, and policy makers.
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12. Lyu K, Li JS, Chen M, Zhang W, Hu M. Effect of COVID-19 on autism spectrum disorders: A bibliometric analysis based on original articles. Medicine. 2023; 102(39): e35310.
BACKGROUND: The objective of this bibliometric inquiry was to scrutinize domains that delve into the repercussions of the 2019 coronavirus disease (COVID-19) pandemic on individuals afflicted with autism spectrum disorder (ASD), worldwide scholarly findings of interrelated research, and forthcoming trajectories. METHODS: To conduct a literature analysis, use the web of science core collection database, search for ASD and COVID-19-related literature published Utilize CiteSpace and VosViewer to visually analyze documents and create networks of authors, organizations. The CiteSpace and VosViewer to visually analyze documents and create networks of authors, organizations, countries, and keywords. RESULTS: This study collected 771 papers and shows an increasing trend in publications. The United States had the most relevant literature (281), followed by the United Kingdom (115) and Italy (76). The United States had the most relevant literature (281), followed by the United Kingdom (115) and Italy (76). The University of London had the most papers (53, 6.87%), and Happe_Francesca was the most productive researcher (6). J AUTISM DEV DISORD was the main journal for research on the impact of COVID-19 on ASD, with 22 related articles. Keyword co-occurrence analysis has revealed that « parenting stress, » « enhancing adherence, » « acute stress disorder, » « COVID-19 Italian lockdown, » « neurodevelopmental disorder, » and « occupational therapy » have garnered significant attention recently. Notably, the burst keywords suggest that « interventions, » « qualitative research, » « Disabilities Monitoring Network, » « neurodevelopmental disabilities, » « perceived stress, » and « barriers » are potential areas of investigation for future research. CONCLUSION: This bibliometric analysis delineates the fundamental structure for assessing the impact of COVID-19 on ASD by scrutinizing crucial indicators such as Our analysis reveals that COVID-19 impact on autism has garnered the interest of an Future research could explore the stress, anxiety, and strategies for individuals with ASD and their The use of telemedicine can be studied in depth, as a new idea for ASD diagnosis and intervention training, it is worthwhile. The use of telemedicine can be studied in depth, as a new idea for ASD diagnosis and intervention training, it is worth exploring, such as Disabilities Monitoring Network, etc.
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13. Nakhostin-Ansari A, Shayestehfar M, Hasanzadeh A, Gorgani F, Memari A. Organized physical activity and sedentary behaviors in children and adolescents with autism spectrum disorder, cerebral palsy, and intellectual disability. World journal of psychiatry. 2023; 13(9): 685-97.
BACKGROUND: There is little data on physical activity (PA), organized PA (OPA), and sedentary behaviors in autism spectrum disorders (ASD) and other neurodevelopmental disorders in developing countries. AIM: To examine OPA, non-OPA, and sedentary behaviors and their associated factors in children and adolescents with ASD, cerebral palsy (CP), and intellectual disability (ID). METHODS: A total of 1020 children and adolescents with ASD, CP, and ID were assessed regarding the child and family information as well as the Children’s Leisure Activities Study Survey. RESULTS: The results showed that the OPA level was significantly lower than non-OPA in all groups. Furthermore, the OPA level was significantly lower in the CP group compared to ASD and ID groups (P < 0.001). Also, moderate (P < 0.001), vigorous (P < 0.05), and total (P < 0.001) physical activity levels were significantly different between all three groups, with the values being higher in the ASD group compared to the other two. The mean of the total sedentary behavior duration in the ASD group (1819.4 min/week, SD: 1680) was significantly lower than in the CP group (2687 min/week, SD: 2673) (P = 0.007) but not ID group (2176 min/week, SD: 2168.9) (P = 0.525). CONCLUSION: Our findings remark on the participation rate of PA, OPA, and sedentary behaviors of children and adolescents with ASD, CP, and ID in a developing country. In contrast, the need for developing standards of PA/OPA participation in neurodevelopmental disorders is discussed.
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14. Neuhaus E, Santhosh M, Kresse A, Aylward E, Bernier R, Bookheimer S, Jeste S, Jack A, McPartland JC, Naples A, Van Horn JD, Pelphrey K, Webb SJ. Frontal EEG alpha asymmetry in youth with autism: Sex differences and social-emotional correlates. Autism research : official journal of the International Society for Autism Research. 2023.
In youth broadly, EEG frontal alpha asymmetry (FAA) associates with affective style and vulnerability to psychopathology, with relatively stronger right activity predicting risk for internalizing and externalizing behaviors. In autistic youth, FAA has been related to ASD diagnostic features and to internalizing symptoms. Among our large, rigorously characterized, sex-balanced participant group, we attempted to replicate findings suggestive of altered FAA in youth with an ASD diagnosis, examining group differences and impact of sex assigned at birth. Second, we examined relations between FAA and behavioral variables (ASD features, internalizing, and externalizing) within autistic youth, examining effects by sex. Third, we explored whether the relation between FAA, autism features, and mental health was informed by maternal depression history. In our sample, FAA did not differ by diagnosis, age, or sex. However, youth with ASD had lower total frontal alpha power than youth without ASD. For autistic females, FAA and bilateral frontal alpha power correlated with social communication features, but not with internalizing or externalizing symptoms. For autistic males, EEG markers correlated with social communication features, and with externalizing behaviors. Exploratory analyses by sex revealed further associations between youth FAA, behavioral indices, and maternal depression history. In summary, findings suggest that individual differences in FAA may correspond to social-emotional and mental health behaviors, with different patterns of association for females and males with ASD. Longitudinal consideration of individual differences across levels of analysis (e.g., biomarkers, family factors, and environmental influences) will be essential to parsing out models of risk and resilience among autistic youth.
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15. Radhoe TA, van Rentergem JAA, Torenvliet C, Groenman AP, van der Putten WJ, Geurts HM. Comparison of network structures between autistic and non-autistic adults, and autism subgroups: A focus on demographic, psychological, and lifestyle factors. Autism : the international journal of research and practice. 2023: 13623613231198544.
There are large differences in the level of demographic, psychological, and lifestyle characteristics between autistic and non-autistic adults but also among autistic people. Our goal was to test whether these differences correspond to differences in underlying relationships between these characteristics-also referred to as network structure-to determine which characteristics (and relationships between them) are important. We tested differences in network structure in (1) autistic and non-autistic adults and (2) two previously identified subgroups of autistic adults. We showed that comparing networks of autistic and non-autistic adults provides subtle differences, whereas networks of the autism subgroups were similar. There were also no sex differences in the networks of the autism subgroups. Thus, the previously observed differences in the level of characteristics did not correspond to differences across subgroups in how these characteristics relate to one another (i.e. network structure). Consequently, a focus on differences in characteristics is not sufficient to determine which characteristics (and relationships between them) are of importance. Hence, network analysis provides a valuable tool beyond looking at (sub)group level differences. These results could provide hints for clinical practice, to eventually determine whether psychological distress, cognitive failures, and reduced quality of life in autistic adults can be addressed by tailored support. However, it is important that these results are first replicated before we move toward intervention or support.
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16. Rahmianti ND, Dinarti LK, Mumpuni H, Triastuti F. Global Longitudinal Strain Right Ventricle (GLS RV) as a Predictor for Mean Pulmonary Artery Pressure (MPAP) on Secundum Atrial Septal Defect (ASD) with Pulmonary Hypertension. Journal of cardiovascular echography. 2023; 33(2): 83-7.
OBJECTIVES: The objectives of the study were to determine the association between global longitudinal strain right ventricle (GLS-RV) and mean pulmonary artery pressure (mPAP) on secundum atrial septal defect (ASD) with pulmonary hypertension (PH). METHODS: This study was an analytic observational with the cross-sectional approach. This study was conducted with secundum ASD patients who underwent right heart catheterization (RHC) from February 2019 to July 2019 at Sardjito General Teaching Hospital Yogyakarta. Demographic data were collected and echocardiographic parameters were evaluated based on the standard examination. The results were statistically analyzed using the correlation hypothesis test. If the data were normally distributed, the Pearson’s correlation test was used, if the data were not normally distributed, Spearman’s correlation test was used to analyze the correlation. RESULTS: Thirty-four patients were enrolled in this study. There was strongly significant positive correlation between GLS-RV and mPAP found in patients with Secundum ASD (P = 0.0001, r = 90.5%). CONCLUSIONS: This is the first study in Indonesia that analyzed the association between GLS-RV and mPAP in Secundum ASD patients. There was a strongly significant positive correlation between GLS-RV and mPAP in patients with Secundum ASD after RHC. We assume that the association is influenced by progressivity and degree of disease severity.
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17. Sánchez-Gómez V, López-Cruz M, Amor AM. Reading Lessons Planning With Students With Intellectual and Developmental Disabilities in Mind: Needs-Based Assessment Proposal. Intellectual and developmental disabilities. 2023; 61(5): 399-425.
This study addresses the need to reinforce the reading learning of students with intellectual and developmental disabilities (IDD) in general education classrooms. A standardized way of assessing support needs in reading (SNr) from the teachers’ perspective is proposed. The objectives were (i) to develop an instrument and evaluate its properties and (ii) to preliminarily assess the support needs in reading of students with IDD. Participants were 86 Chilean elementary school teachers who responded about the support needs of their own students. The instrument assesses three dimensions (i.e., representation, engagement, and action and expression). Analyses showed excellent preliminary evidence of validity and reliability. Preliminarily identified support needs suggest that students need more support in representation. Practical and research implications are discussed.
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18. Simpson K, Adams D. Parent-reported environmental factors and strategies to support home and community participation in children on the autism spectrum. Disability and rehabilitation. 2023: 1-10.
PURPOSE: Participating in home and community activities can be influenced by environmental factors and parent strategies. Children on the autism spectrum are reported to participate less in home and community activities than their neurotypical peers. Little is known about environmental factors that may influence their participation, and ways parents support their child’s participation. MATERIALS AND METHODS: Parents of children on the autism spectrum aged 5-6 years (n = 72) and 10-11 years (n = 94) completed the Participation and Environment Measure for Children and Youth. This study reports on the perceived support, barriers, and resources in the home and the community environment. Parents reported strategies they used to support their child’s participation in home and the community. RESULTS: Home environmental factors were identified as more supportive by the parents of younger children. The sensory quality of activities and social demands were factors identified as making community participation harder for both groups. Parents used a range of different strategies in the home and the community to support their child’s participation. CONCLUSIONS: Identifying environmental barriers and supports to participation can assist in developing interventions to support meaningful participation in activities for children on the autism spectrum.Implications for rehabilitationSkills required for the activity and preferences of children on the autism spectrum are important considerations when supporting their participation in activities.When exploring a child’s level of participation, it may be helpful to ask parents about what their child can do with or without their support.The sensory quality of the environment is a consideration when supporting the participation of children on the autism spectrum in community activities.As sensory processing is an individual experience, the impact of sensory elements of the environment may differ for individuals.
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19. Wang W, Li H, Xiao M, Mu M, Xu H, Wang B. Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis. Alternative therapies in health and medicine. 2023.
BACKGROUND: Rett syndrome (RTT) is now widely recognized as a profound neurological disorder that predominantly affects females and is closely associated with mutations in the methylated CpG binding protein 2 (MECP2) gene located on the X chromosome. The Characteristic symptoms of RTT include the loss of acquired language and motor skills, repetitive hand movements, irregular breathing, and seizures. Additionally, RTT patients may experience sporadic episodes of gastrointestinal problems, hypoplasia, early-onset osteoporosis, bruxism, and screaming episodes. It is worth noting that males exhibit a unique and variable phenotype, though rare in RTT cases, often accompanied by severe manifestations. CASE PRESENTATION: In this report, we present the case of a young male child with a de novo c.806delG hemizygous mutation, leading to an atypical presentation of RTT that remarkably mirrors the clinical features of Bartter syndrome, a genetic metabolic disorder. The clinical manifestations in this case included the loss of previously acquired language and motor skills, repetitive hand movements, breathing irregularities, seizures, sporadic episodes of gastrointestinal distress, hypoplasia, early-onset osteoporosis, bruxism, and episodes of screaming. This distinctive presentation underscores the complex diagnostic landscape of RTT, particularly in males, and highlights the need for vigilant clinical evaluation. CONCLUSIONS: This case report sheds light on an unusual and atypical presentation of RTT in a young male child with a de novo c.806delG hemizygous mutation. The resemblance of clinical features to Bartter syndrome underscores the diagnostic challenges posed by RTT and highlights the importance of comprehensive clinical assessment and genetic testing, especially in cases deviating from the typical RTT phenotype. Our findings contribute valuable insights into the early diagnosis and management of atypical RTT presentations.
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20. Westerberg B, Holländare F, Bejerot S. An internet-based behavioral intervention for adults with autism spectrum disorder – A randomized controlled trial and feasibility study. Internet interventions. 2023; 34: 100672.
BACKGROUND: The increased prevalence of Autism Spectrum Disorder (ASD) diagnoses in combination with psychiatric comorbidity, has led to an increased need for effective interventions. The evidence for internet-based interventions for several mental health problems is established but has not been evaluated for adults with ASD. OBJECTIVE: The aim of this randomized controlled trial is to evaluate the feasibility and effects of an internet-based intervention targeting quality of life and psychiatric symptoms (depression and anxiety) in adults with ASD. METHODS: 84 participants were randomly allocated to intervention (n = 42) or control (n = 42). The 18-week internet-based intervention covered a range of themes related to difficulties common in ASD, and exercises based on cognitive behavioral strategies. Participants were provided with individual feedback following each module and were invited to regular chat sessions with peer participants. The primary outcomes were subjective quality of life and sense of coherence, and secondary outcomes were symptoms of depression and anxiety. All outcomes were measured at five occasions and analysed with linear mixed effect models. Participant satisfaction and adherence was also analysed. RESULTS: Participant satisfaction and adherence was satisfactory but no significant interaction between group and time was found for any outcome measure. Autistic traits were negatively related to quality of life and sense of coherence and positively related to anxiety and depressive symptoms. CONCLUSIONS: This internet-based intervention showed feasibility regarding adherence and participant satisfaction. However, no significant effects on quality of life, sense of coherence or psychiatric symptoms were found, likely due to limitations in the design and methodology of this specific trial in combination to the heterogeneity of the group. Individuals with ASD may require interventions that are flexible and individually tailored in regard to both format, content and therapeutic support. The current trial provides useful information and suggestions for the future research on internet-based interventions for ASD.
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21. Wilson AC. Cognitive Profile in Autism and ADHD: A Meta-Analysis of Performance on the WAIS-IV and WISC-V. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists. 2023.
OBJECTIVE: Previous research has suggested that neurodevelopmental conditions may be associated with distinctive cognitive profiles on the Wechsler intelligence tests (of which the most recent editions are the WAIS-IV and WISC-V). However, the extent to which a cognitive profile can be reliably identified for individuals meeting criteria for autism or ADHD remains unclear. The present review investigated this issue. METHOD: A search was conducted in PsycInfo, Embase, and Medline in October 2022 for papers reporting the performance of children or adults diagnosed with autism or ADHD on the WAIS-IV or the WISC-V. Test scores were aggregated using meta-analysis. RESULTS: Scores were analyzed from over 1,800 neurodivergent people reported across 18 data sources. Autistic children and adults performed in the typical range for verbal and nonverbal reasoning, but scored ~1 SD below the mean for processing speed and had slightly reduced scores on working memory. This provides evidence for a « spiky » cognitive profile in autism. Performance of children and adults with ADHD was mostly at age-expected levels, with slightly reduced scores for working memory. CONCLUSION: Although the pattern of performance on the Wechsler tests is not sufficiently sensitive or specific to use for diagnostic purposes, autism appears to be associated with a cognitive profile of relative strengths in verbal and nonverbal reasoning and a weakness in processing speed. Attention deficit hyperactivity disorder appears less associated with a particular cognitive profile. Autistic individuals may especially benefit from a cognitive assessment to identify and support with their strengths and difficulties.