Ability and disability in autism spectrum disorder:a systematic literature review employing the International Classification of Functioning, Disability and Health-Children and Youth version

Objective: This study is the first in a series of four empirical investigations to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The objective was to use a systematic review approach to identify, number, and link functional ability and disability concepts used in the scientific ASD literature to the nomenclature of the ICF-CY (Children and Youth version of the ICF, covering the life span). Methods: Systematic searches on outcome studies of ASD were carried out in Medline/PubMed, PsycINFO, ERIC and Cinahl, and relevant functional ability and disability concepts extracted from the included studies. These concepts were then linked to the ICF-CY by two independent researchers using a standardized linking procedure. New concepts were extracted from the studies until saturation of identified ICF-CY categories was reached. Results: Seventy-one studies were included in the final analysis and 2475 meaningful concepts con tained in these studies were linked to 146 ICF-CY categories. Of these, 99 categories were considered most relevant to ASD (i.e., identified in at least 5% of the studies), of which 63 were related to Activities and Participation, 28 were related to Body functions, and 8 were related to Environmental factors. The five most frequently identified categories were basic interpersonal interactions (51%), emotional functions (49%), complex interpersonal interactions (48%), attention functions (44%), and mental functions of language (44%). Conclusion: The broad variety of ICF-CY categories identified in this study reflects the heterogeneity of functional differences found in ASD—both with respect to disability and exceptionality—and underlines the potential value of the ICF-CY as a framework to capture an individual's functioning in all dimensions of life. The current results in combination with three additional preparatory studies (expert survey, focus groups, and clinical study) will provide the scientific basis for defining the ICF Core Sets for ASD for multipurpose use in basic and applied research and every day clinical practice of ASD. Autism Res 2015, 8: 782–794. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research

Home schooling during the COVID-19 pandemic in the United Kingdom : the experience of families of children with neurodevelopmental conditions

The COVID-19 outbreak, and associated school restrictions affected the learning experience of students worldwide. The current study focused on the learning experiences of United Kingdom children with neurodevelopmental conditions, including autism and/or intellectual disability. Specifically, the aim was to examine families’ experience with school support for home schooling, families’ resources, and level of satisfaction with schools among families whose children engaged with home schooling, hybrid learning, and school-based learning during the pandemic. An online survey took place in 2021, approximately 1 year since the start of the COVID-19 pandemic in the United Kingdom. Participants were recruited mostly through social media with support via several charities across the United Kingdom. Participants were 809 parents/carers of children with autism and/or intellectual disability aged 5 – 15 years. Of these, 59% were learning from home daily during home schooling, 19% spent some days in school (hybrid learning), and 22% were going to school daily during school restrictions. Parents/carers reported on the support received from schools, the resources accessed, and the resources needed but not accessed to facilitate learning. They also reported on their level of satisfaction with school support and school management of COVID-19 risks. Results indicated that learning during the COVID-19 pandemic was mostly via school-provided worksheets, in the home and hybrid learning group. Families had access to the internet/data and a laptop, computer, or tablet to facilitate learning. However, in both learning groups (i.e., home and hybrid learning) they needed but did not have access to special equipment, special software, and a printer. Importantly, 11% of families in home and hybrid learning groups reported not having access to a desk/table. Satisfaction with school support was low in the home and hybrid learning groups. Satisfaction with COVID-19 management was higher for families of children attending school daily (i.e., the school-based learning group). Future education policy decisions during public health crises should take into consideration the needs of children with neurodevelopmental conditions including autism and/or intellectual disability

School attendance problems among children with neurodevelopmental conditions one year following the start of the COVID-19 Pandemic

Purpose: The present study investigated school absence among 1,076 5–15 year-old children with neurodevelopmental conditions (intellectual disability and/or autism) approximately one year following the start of COVID-19 in the UK. Methods: Parents completed an online survey indicating whether their child was absent from school during May 2021 and the reason for each absence. Multi-variable regression models investigated child, family and school variables associated with absenteeism and types of absenteeism. Qualitative data were collected on barriers and facilitators of school attendance. Results: During May 2021, 32% of children presented with persistent absence (missing ≥ 10% of school). School refusal and absence due to ill-health were the most frequent types of absence, accounting for 37% and 22% of days missed, respectively. COVID-19 related absence accounted for just 11% of days missed. Child anxiety was associated with overall absenteeism and with days missed because of school refusal. Parent pandemic anxiety and child conduct problems were not associated with school absenteeism. Hyperactivity was associated with lower levels of absenteeism and school refusal but higher levels of school exclusion. A positive parent-teacher relationship was associated with lower levels of absenteeism, school refusal and exclusion. Child unmet need in school was the most frequently reported barrier to attendance while COVID-19 was one of the least frequently reported barriers. Conclusion: COVID-19 had a limited impact on school attendance problems during this period. Findings highlighted the role of child mental health in different types of absence and the likely protective role of a positive parent-teacher relationship

The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R): A Scale to Assist the Diagnosis of Autism Spectrum Disorder in Adults: An International Validation Study

The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) is a valid and reliable instrument to assist the diagnosis of adults with Autism Spectrum Disorders (ASD). The 80-question scale was administered to 779 subjects (201 ASD and 578 comparisons). All ASD subjects met inclusion criteria: DSM-IV-TR, ADI/ADOS diagnoses and standardized IQ testing. Mean scores for each of the questions and total mean ASD vs. the comparison groups’ scores were significantly different (p < .0001). Concurrent validity with Constantino Social Responsiveness Scale-Adult = 95.59%. Sensitivity = 97%, specificity = 100%, test–retest reliability r = .987. Cronbach alpha coefficients for the subscales and 4 derived factors were good. We conclude that the RAADS-R is a useful adjunct diagnostic tool for adults with ASD

Small RNA changes en route to distinct cellular states of induced pluripotency

MicroRNAs (miRNAs) are critical to somatic cell reprogramming into induced pluripotent stem cells (iPSCs), however, exactly how miRNA expression changes support the transition to pluripotency requires further investigation. Here we use a murine secondary reprogramming system to sample cellular trajectories towards iPSCs or a novel pluripotent ‘F-class’ state and perform small RNA sequencing. We detect sweeping changes in an early and a late wave, revealing that distinct miRNA milieus characterize alternate states of pluripotency. miRNA isoform expression is common but surprisingly varies little between cell states. Referencing other omic data sets generated in parallel, we find that miRNA expression is changed through transcriptional and post-transcriptional mechanisms. miRNA transcription is commonly regulated by dynamic histone modification, while DNA methylation/demethylation consolidates these changes at multiple loci. Importantly, our results suggest that a novel subset of distinctly expressed miRNAs supports pluripotency in the F-class state, substituting for miRNAs that serve such roles in iPSCs

Culture Adaptation Alters Transcriptional Hierarchies among Single Human Embryonic Stem Cells Reflecting Altered Patterns of Differentiation

We have used single cell transcriptome analysis to re-examine the substates of early passage, karyotypically Normal, and late passage, karyotypically Abnormal (‘Culture Adapted’) human embryonic stem cells characterized by differential expression of the cell surface marker antigen, SSEA3. The results confirmed that culture adaptation is associated with alterations to the dynamics of the SSEA3(+) and SSEA3(-) substates of these cells, with SSEA3(-) Adapted cells remaining within the stem cell compartment whereas the SSEA3(-) Normal cells appear to have differentiated. However, the single cell data reveal that these substates are characterized by further heterogeneity that changes on culture adaptation. Notably the Adapted population includes cells with a transcriptome substate suggestive of a shift to a more naïve-like phenotype in contrast to the cells of the Normal population. Further, a subset of the Normal SSEA3(+) cells expresses genes typical of endoderm differentiation, despite also expressing the undifferentiated stem cell genes, POU5F1 (OCT4) and NANOG, whereas such apparently lineage-primed cells are absent from the Adapted population. These results suggest that the selective growth advantage gained by genetically variant, culture adapted human embryonic stem cells may derive in part from a changed substate structure that influences their propensity for differentiation

Expression of the myosin heavy chain IIB gene in porcine skeletal muscle: the role of the CArG-box promoter response element

Due to its similarity to humans, the pig is increasingly being considered as a good animal model for studying a range of human diseases. Despite their physiological similarities, differential expression of the myosin heavy chain (MyHC) IIB gene (MYH4) exists in the skeletal muscles of these species, which is associated with a different muscle phenotype. The expression of different MyHC isoforms is a critical determinant of the contractile and metabolic characteristics of the muscle fibre. We aimed to elucidate whether a genomic mechanism was responsible for the drastically different expression of MYH4 between pigs and humans, thus improving our understanding of the pig as a model for human skeletal muscle research. We utilized approximately 1 kb of the MYH4 promoter from a domestic pig and a human (which do and do not express MYH4, respectively) to elucidate the role of the promoter sequence in regulating the high expression of MYH4 in porcine skeletal muscle. We identified a 3 bp genomic difference within the proximal CArG and Ebox region of the MYH4 promoter of pigs and humans that dictates the differential activity of these promoters during myogenesis. Subtle species-specific genomic differences within the CArG-box region caused differential protein-DNA interactions at this site and is likely accountable for the differential MYH4 promoter activity between pigs and humans. We propose that the genomic differences identified herein explain the differential activity of the MYH4 promoter of pigs and humans, which may contribute to the differential expression patterns displayed in these otherwise physiologically similar mammals. Further, we report that both the pig and human MYH4 promoters can be induced by MyoD over- expression, but the capacity to activate the MYH4 promoter is largely influenced by the 3 bp difference located within the CArG-box region of the proximal MYH4 promoter

Winning Peace Frames: Intra-Ethnic Outbidding in Northern Ireland and Cyprus

Ethnic outbidding in divided societies can have dire political consequences, ranging from the derailment of peace processes to inter-ethnic warfare. This article investigates the conditions contributing to successful outbidding within the framework of protracted peace negotiations by using the contrasting cases of Northern Ireland and Cyprus. Evidence demonstrates that successful outbidders are able to exploit the fears of their communities with respect to inter-ethnic compromise while identifying appropriate strategies and opportunities for redressing these grievances. The article demonstrates that the degree of outbidding success over the long term derives from combining diagnostic and prognostic frames linked to credible political and constitutional strategies