Clinical Presentation and Spectrum of Gluten Symptomatology in Celiac Disease.

Views on the clinical presentation and symptomatology of celiac disease have evolved alongside advances in disease detection and understanding of disease pathogenesis. Although historically regarded as a pediatric illness characterized by malabsorption, it is now better viewed as an immune illness of gluten-specific T cells with systemic manifestations affecting all ages. Its broad presentation, including frequent extraintestinal manifestations and asymptomatic disease, contributes to suboptimal disease detection. Adverse symptoms greatly impact patient quality of life and can result from chronic gluten exposure in untreated disease or those poorly responsive to the gluten-free diet. They can also present as acute symptoms after episodic gluten exposure. Functional gastrointestinal disease is a common comorbidity. Biomarkers like interleukin-2 that are highly sensitive and specific for celiac disease highlight a role for gluten-specific T cells in acute gluten symptomatology. A mechanistic understanding of symptoms will inform approaches to better measure and treat them effectively.

A Parent-Mediated Anxiety Intervention Specifically Tailored for Autistic Preschoolers: A Pilot Study.

IMPORTANCE: Autistic children experience reduced participation in life activities. One factor that may contribute to their reduced levels of participation is anxiety, which is identified at higher rates among young autistic children than among their neurotypical peers. Anxiety is also strongly associated with sensory overresponsivity and has a considerable impact on daily functioning. OBJECTIVE: To determine the feasibility, acceptability, and usefulness of a small-group, parent-mediated intervention to prevent and reduce anxiety. DESIGN: Pre-post. SETTING: University research center. PARTICIPANTS: Three parents of autistic children (ages 4-7 yr). OUTCOMES AND MEASURES: Parents completed a six-session group training program. Parents completed an anxiety scale for their child before and after parent training. At the end of training, parents participated in a focus group and were interviewed 4 mo after training. RESULTS: Positively received aspects of the intervention were the benefits of a small group, composed of parents of autistic children, run by a facilitator with expertise in autism and anxiety. Parents gained knowledge, resulting in "taking a different approach" with their child and "seeing an interplay between anxiety and autism." After the intervention, parents reported a reduction in children's reported anxiety levels. CONCLUSIONS AND RELEVANCE: Knowledge of autism and anxiety acquired during a parent-mediated group increased parents' understanding of their child's behaviors and assisted them in supporting their child's participation. Further research, including larger studies, is required to determine the effectiveness of this intervention. What This Article Adds: The findings from this research provide preliminary support for the adaptation of an existing parent intervention (Cool Little Kids) to reduce anxiety among autistic children. Parents reported an increased awareness and understanding of anxiety and of the interplay between anxiety and autistic traits. Positionality Statement: This article uses the identity-first language autistic people. This nonableist language describes their strengths and abilities and is a conscious decision. This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021; Kenny et al., 2016).

Joint patient and clinician priority setting to identify 10 key research questions regarding the long-term sequelae of COVID-19.

Given the large numbers of people infected and high rates of ongoing morbidity, research is clearly required to address the needs of adult survivors of COVID-19 living with ongoing symptoms (long COVID). To help direct resource and research efforts, we completed a research prioritisation process incorporating views from adults with ongoing symptoms of COVID-19, carers, clinicians and clinical researchers. The final top 10 research questions were agreed at an independently mediated workshop and included: identifying underlying mechanisms of long COVID, establishing diagnostic tools, understanding trajectory of recovery and evaluating the role of interventions both during the acute and persistent phases of the illness.

Mucosal Integrity Testing Can Detect Differences in the Rectums of Patients with Inflammatory Bowel Disease Compared to Controls: A Pilot Study.

BACKGROUND: While the pathogenesis of inflammatory bowel disease (IBD) is incompletely understood, disruption of epithelial integrity is suspected to play a prominent role in disease initiation and progression. Currently, there is no convenient way to measure this in vivo. AIMS: Our aim is to determine whether a mucosal integrity (MI) testing device that has been used to measure MI in the esophagus can also be used to measure barrier function in the colon during colonoscopy. METHODS: Mucosal integrity testing was measured in patients with IBD (n = 17) and controls (n = 7) during colonoscopy. During the procedure, an MI catheter was passed down the working channel of the colonoscope and placed along the mucosal wall to measure MI in the rectum, left, transverse, and right colon. In patients with IBD, MI measurements and biopsies were taken in areas which appeared inflamed when present. We then determined if there was a significant difference in MI between patients with IBD and controls. RESULTS: MI was significantly higher in the rectum of patients with IBD (CD and UC combined) versus control colons [767 (618-991) vs. 531 (418-604) ohms, P < 0.01]. There were no significant differences in MI among patients with IBD versus controls in the right, transverse, or left colon. Within the IBD group, there were no significant differences in MI between inflamed versus non-inflamed rectums. There was no correlation between quality of life scores or endoscopic severity with MI, though this study was likely underpowered to detect these differences. CONCLUSION: Rectal MI is significantly higher in patients with IBD versus controls. Future studies are needed to determine how this information can be used clinically.

Profiles and predictors of thriving in children on the autism spectrum.

BACKGROUND: Thriving is defined as the growth of attributes that mark a flourishing, healthy individual and include Competence, Confidence, Connectedness, Character, Caring and Contribution to self, family, community and civil society. Thriving has been linked to positive youth outcomes in neurotypical children and adolescents but has rarely been explored for individuals on the autism spectrum. METHOD: This study explored the profiles and predictors of parent-reported thriving in 111 school children on the autism spectrum, aged 6 to 14 years. RESULTS: Parents rated children as having relative strengths in the Caring and Connectedness dimensions and relative challenges in the Competence dimension. Stronger thriving outcomes were consistently predicted by stronger socialization scores; however, the other predictors of outcome differed by dimensions. CONCLUSION: The current findings provide insight into the individual and contextual factors that predict thriving in children on the autism spectrum. As research into thriving is in its infancy, more work is needed to understand how child, family and contextual factors relate to thriving in individuals on the autism spectrum to foster positive outcomes.

Acquired mild cognitive impairment in adults with Down syndrome: Age-related prevalence derived from single point assessment data normed by degree of intellectual disability.

BACKGROUND: Individuals with Down syndrome (DS) are at significant risk for early onset Alzheimer's disease (AD), likely due to the triplication of genes on chromosome 21 that facilitate AD neuropathology. To aid the effective early diagnosis of dementia in DS, we demonstrate the strategy of using single point assessment of cognitive performance with scoring normed for degree of intellectual disability to generate age related prevalence data for acquired mild cognitive impairment (AMCI). METHODS: Four hundred and twelve adults with DS were assessed using the Neuropsychological Assessment of dementia in adults with Intellectual Disability. Normative data, banded by degree of intellectual disability, allowed identification of AMCI by atypical deviation from expected performance. RESULTS: AMCI was evident in approximately 20% of adults with DS aged 40 and under, 40% aged 41-50 and 45% aged 51 and over. Relative risk increased significantly in those aged 46 and over. Analysis of prevalence by 5-year age bands revealed two peaks for higher prevalence of AMCI. CONCLUSIONS: Psychometric data indicate single point assessment of AMCI is possible for the majority of adults with DS. Two peaks for age-related prevalence of AMCI suggest the risk for onset of AD conferred by trisomy of chromosome 21 is moderated by another factor, possibly ApoE status.

Measurements of Duodenal Mucosal Integrity Are Altered in Celiac Disease.

Altered barrier function is a part of celiac disease (CeD) pathophysiology that we currently cannot reliably measure. Catheter-based mucosal integrity (MI) is an endoscopic technology that has identified altered esophageal barrier function in esophageal disease.1 The aim of this study was to evaluate feasibility, safety, and clinical utility of measuring duodenal integrity with an MI catheter in patients with and without CeD.

Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.

Genetic therapies have shown recent promise in alleviating some of the cognitive issues associated with some genetic disorders; however, these therapies may come with significant health and socio-ethical concerns, particularly when they involve child participants. Little is known about what parents of children with genetic disorders think about genetic therapies, or about their knowledge of how genetic-based therapy might treat their child's symptoms. Forty-two parents of children with Angelman syndrome (AS) and 27 parents of a mixed etiology comparison group completed an online survey reporting on their perceptions of, and priorities for, genetic therapy. Almost all parents of children with AS (95%) and the comparison group (89%) agreed that treatments aiming to reduce symptoms associated with their child's syndrome were positive. However, significantly more parents of children with AS (95%) than the comparison group (56%) felt that genetic treatment trials aiming to "cure" their child should be a research priority. AS parent priorities for the focus of clinical trials were neurology/seizures, communication skills, and motor skills/mobility. For the comparison group, the priorities were IQ, immune response, and expressive speech. Parents of both groups did not want treatments to change their child's personality or their happiness. Global assumptions cannot be made about targets for therapy between syndromes, about parental understanding of genetics, or about research evidence across syndromes. This study highlights the need for true family and patient engagement in all stages of the research design and treatment evaluation.

Investigating the participation of children on the autism spectrum across home, school, and community: A longitudinal study.

BACKGROUND: The World Health Organization recognizes that meaningful participation in one's community empowers individuals. Children and adolescents on the autism spectrum consistently report lower participation than their typical peers in activities, and this appears to continue into adulthood. The aim of this study was to investigate the participation of children on the autism spectrum over a 3-year period across home, school, and community. METHOD: Caregivers of 84 participants aged 9-10 years at Year 1 completed the Participation and Environment Measure for Children and Youth (PEM-CY) at three annual data collection points. The PEM-CY is a 25-question measure of the child's level of involvement in home, school, and community activities. Distribution frequencies were calculated for each time point. RESULTS: Although participation in the majority of items across home, school, and community remained stable, the longitudinal data suggest that children change the types of socializing activities across time. Over the 3 years, there was a decline in physical activity (both organized and unstructured) and in participation in school activities. CONCLUSION: This decline in participation as children move into adolescence is concerning. Further, reduced participation at this phase of development may potentially limit future participation opportunities throughout adolescence and into adulthood. Further exploration of the participation trajectories of children on the autism spectrum is needed.

A Comparison of Two Methods for Recruiting Children with an Intellectual Disability.

BACKGROUND: Recruitment is a widely cited barrier of representative intellectual disability research, yet it is rarely studied. This study aims to document the rates of recruiting children with intellectual disabilities using two methods and discuss the impact of such methods on sample characteristics. METHODS: Questionnaire completion rates are compared between (i) participants being approached in child development centre waiting rooms and (ii), one year later, the same participants being invited to take part by phone, email and/or post. RESULTS: The face-to-face recruitment method resulted in a better recruitment rate (58.5% compared to 18.5%) and a larger sample (n = 438) than the telephone/email/post sample (n = 40). It also required less hours of researcher time per completed questionnaire. CONCLUSIONS: In-line with previous research, recruitment of participants with intellectual disabilities (or their parents/carers) requires significant time and resources to get a sample of an acceptable size.

Brief Report: Single-Session Interventions for Mental Health Challenges in Autistic People: An (Almost) Empty Systematic Review.

Single-session interventions (specific, structured programs that intentionally involve just one visit or encounter with a clinic, provider, or program) have been proven to prevent or reduce mental health challenges and reduce barriers to access. This review aimed to identify and synthesise literature on the acceptability, feasibility, effectiveness, or efficacy of (non-pharmacological) single-session interventions for autistic people. Four databases (Scopus, MEDLINE, PsycINFO, and ProQuest) were searched in 12.7.2023, with no date restrictions. Search terms were selected to identify articles reporting on single-session interventions in autistic people. Two raters screened titles/abstracts of 286 articles and full text of 17 articles, resulting in just two included articles, reporting on 46 participants. Risk of bias was assessed with the Quality Assessment with Diverse Studies (QuADS). The two included papers report on specific techniques taught within a single visit to a clinic using pre- and immediate post-intervention questionnaires. One study also reported on cortisol levels pre and post. Neither study reported on acceptability or feasibility of single-session interventions. However, there was insufficient quality evidence to evaluate the effectiveness or efficacy of single-session interventions for autistic people. Although there is substantial research on single-session interventions in the broader population, there is a lack of research into such approaches for autistic people. This is a missed opportunity to evaluate a potential means of support for those at elevated risk of mental health challenges and unmet mental health service need. Future research should co-produce and co-evaluate such approaches as a priority.

Using Q-sort method to explore autistic students' views of the impacts of their anxiety at school.

LAY ABSTRACT: Many autistic students experience anxiety, but there is little research that explores how anxiety might affect autistic students in the school environment. In this study, 45 autistic students, aged 7 to 17 years, completed an online sorting activity to tell us how anxiety impacts them at school. The students were given 21 statements about possible social and academic effects of anxiety (for example, 'When I'm worried it's hard to start my schoolwork' or 'When I'm worried I talk less to my friends or other students'), and sorted them based on how much they agreed each statement was true for them. The three statements most highly rated as being impacted by anxiety were difficulties related to schoolwork. By comparing the information provided by students, six smaller groups of students were identified who sorted the statements in a similar order. These groups show that anxiety affects different autistic students in different ways, including missing school or activities, communicating less with friends and teachers and finding it harder to complete schoolwork. This online sorting activity enabled autistic students themselves to report how anxiety affects them at school. The results suggest that it is important to provide individualised support for autistic students who experience anxiety at school, to reduce the impact of their anxiety on their participation, communication and interactions, and schoolwork. Further research about the effects of anxiety on the academic outcomes of autistic students is also needed.

Parenting Practices and Externalizing Behaviors in Autistic Children: A Systematic Literature Review.

There is limited recent research on the association between parenting practices and externalizing behaviors in autistic children. To address this gap, the current systematic review examined the associations between parenting practices and externalizing behaviors in autistic children, along with the mediating and moderating effects of parent and child variables (PROSPERO registration number CRD42022268667). Study inclusion criteria were (1) Peer-reviewed journals, (2) Participants included parents of autistic children and their children, (3) Quantitative measures of both parenting practices or behaviors/style and child externalizing behaviors, (4) Cross-sectional or longitudinal studies only, and (5) Studies published in English. Study exclusion criteria were: (1) Qualitative studies, (2) Published in a language other than English, (3) Participants included non-human participants, (4) Participants that did not include parents and their autistic children as participants or did not report this group separately, (5) Systematic review and meta-analyses, and (6) No quantitative measures of parenting practices and/or child externalizing behaviors. Quality appraisal and risk of bias were conducted using the McMaster Tool and results were synthesized in Covidence and Excel. Thirty studies were included in the review. Results demonstrated that mindful parenting was associated with fewer or lower levels of externalizing behaviors; positive parenting practices had non-significant associations with externalizing behaviors; specific parenting practices had differing associations with externalizing behaviors; and negative parenting practices were associated with higher levels of externalizing behaviors. We are unable to draw causal relationships due to focus on cross-sectional and longitudinal articles only. The potential for future research to target specific parent practices to support children's externalizing behaviors is discussed.

Letter to the Editor: A possible threat to data integrity for online qualitative autism research.

LAY ABSTRACT: Doing research online, via Zoom, Teams, or live chat, is becoming more and more common. It can help researchers to reach more people, including from different parts of the world. It can also make the research more accessible for participants, especially those with different communication preferences. However, online research can have its downsides too. We have recently been involved in three studies in which we had in-depth discussions with autistic people and/or parents of autistic children about various topics. It turns out, though, that some of these participants were not genuine. Instead, we believe they were "scammer participants": people posing as autistic people or parents of autistic children, possibly to gain money from doing the research. This is a real problem because we need research data that we can trust. In this letter, we encourage autism researchers to be wary of scammer participants in their own research.

Brief Report: Covid Restrictions had Positive and Negative Impacts on Schooling for Students on the Autism Spectrum.

The COVID-19 pandemic (2020) resulted in school closures and changes to school delivery. The aim of this study was to explore how these changes impacted on children on the autism spectrum. As part of an online survey, parents (n = 180) of school-aged children (9.3-16.5 years) on the autism spectrum in Australia were asked an open-ended question on how the COVID-19 pandemic had impacted on their child's education experience. Nearly half (48%) of the parents reported only negative impacts, 26% only positive impacts, 12% a mix of positive and negative impacts, and 9% little or no impact. Parents identified that school restrictions impacted on more than their child's learning. These findings highlight areas to consider when supporting autism-friendly learning.

Parent-reported environmental factors and strategies to support home and community participation in children on the autism spectrum.

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.

Brief Report: Family Accommodation is Associated with the Impact of Childhood Anxiety in Autism.

Anxiety is commonly experienced by children on the autism spectrum, and can negatively impact their lives. Family accommodation has been linked to the impact of anxiety on the child's life in non-autistic children. This study tested whether the same relationship holds for children on the autism spectrum. A community sample (n = 118) of parents of children on the spectrum completed questionnaires on their child's autism characteristics and severity and impact of their child's anxiety, their own anxiety and family accommodation behaviours. Family accommodation was associated with the impact of child anxiety, over and above anxiety severity of the child and parent. Findings support the involvement of parents in psychosocial support for children on the autism spectrum experiencing anxiety.

Longitudinal studies of challenging behaviours in autistic children and adults: A systematic review and meta-analysis.

Autistic children and adults are at increased risk of showing behaviours that may be described as challenging, however, little is known about whether or how these behaviours may change over time. Given the profound impact that challenging behaviour can have on both the autistic individual and their support network, it is critical that the trajectory of challenging behaviours be better understood. This systematic review and meta-analysis identified and synthesised observational longitudinal studies of challenging behaviour in autistic individuals. Fifty-six studies were included in the systematic review, and the effect sizes of 37 independent samples arising from 34 of these reports were examined through meta-analysis. Crucially, across the 37 samples, scores on the measures of challenging behaviour reduced by a small, yet significant, extent over time. Although age of the sample at baseline assessment did not moderate the effect, the time between the baseline assessment and final follow-up and age at final follow-up both moderated the magnitude of the effect, with challenging behaviour scores reducing to a larger extent in (a) studies with longer intervals between baseline and final follow-up and (b) studies with older samples at follow-up. The results from the current systematic review and meta-analysis have both theoretical and practical implications for understanding challenging behaviour over time in autistic individuals. Avenues for future research are also highlighted that may allow better understanding, and therefore support of, challenging behaviour in autistic individuals.

The relationshipbetween anxiety and social outcomes in autistic children and adolescents: A meta-analysis.

Anxiety is one of the most frequently reported co-occurring conditions for autistic children and adolescents. The relationship between anxiety and social outcomes in autistic youth has been the focus of a range of studies, with mixed results. This meta-analysis aimed to identify the strength of the association between anxiety and a frequently researched social outcome (social competence) in autistic young people and whether that association is influenced by individual or research design factors. A previous preregistered systematic review was updated with a search of the same three databases (CINAHL, ERIC, and PsycINFO) as the original review. Through this, 20 studies with sufficient data on a neurotypically-defined measure of social competence and anxiety were identified. Results were synthesised using a mixed effects model. The meta-analysis on 2,321 participants (from 22 samples) highlighted wide heterogeneity in results. The findings show that anxiety has a significant, small negative impact on social competence (d = - 0.48; 95% CI = - 0.71, - 0.26), meaning that as scores on measures of anxiety increase, scores on measures of social competence decrease. This relationship between anxiety and social competence was moderated by age, becoming weaker as age increased. Whilst this is an important finding for supporting mental health and well-being of autistic young people, the large amount of variance left unexplained suggests that multiple factors, including the use of measures designed for neurotypical people and the potential impact of camouflaging on such measures, need to be considered in future designs.