1. Abd Latif MH, Wan Ismail WS, Abdul Manaf MR, Abdul Taib NI. Factors Influencing Despair, Self-blame, and Acceptance Among Parents of Children with Autism Spectrum Disorder (ASD): A Malaysian Perspective. Journal of autism and developmental disorders. 2023.

PURPOSE: Accepting and adapting to the child’s diagnosis of Autism Spectrum Disorder (ASD) can be challenging for parents. We aimed to assess domains of parental adjustment namely despair, self-blame, and acceptance among parents whose children were diagnosed with ASD. METHODS: A cross-sectional study was conducted among 111 parents of children with autism who attended Child and Adolescent Psychiatry Unit (CAPU), in a university teaching hospital in Kuala Lumpur, Malaysia. Sociodemographic profiles of both parents and children were gathered. Parental adjustment focusing on parental self-blame, despair and acceptance were assessed using self-reported questionnaires namely Adjustment to the Diagnosis of Autism (ADA). RESULTS: Higher level of despair was associated with parents who have medical illness (β = 0.214, p = 0.016) and children who received antipsychotic medications (β = 0.329, p < 0.001). Parents with tertiary education (β = -0.207, p = 0.023) and those with autistic child attended school (β = -0.200, p = 0.037) have lower level of despair. Parents with medical illness (β = 0.245, p = 0.008), child receiving antipsychotic medications (β = 0.251, p = 0.005), Chinese ethnicity (β = 0.185, p = 0.04), and child's gender (β = 0.283, p = 0.003) were significantly associated with higher level of self-blame. Lower acceptance was found among Chinese parents (β = -0.264, p = 0.005) while married parents had higher acceptance levels (β = 0.215, p = 0.022). CONCLUSION: Parental adjustment involving domains of despair, self-blame, and acceptance were significantly associated with ethnicity of parents, educational level, parents' marital status and medical illness, as well as the ASD children's schooling status and type of medications used.

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2. Ben Natan M, Igbarin H, Watted A. Mothers’ satisfaction with emergency care when their child has an autism spectrum disorder. Journal of pediatric nursing. 2023; 74: 35-40.

PURPOSE: This study aimed to examine factors identified by mothers as affecting their satisfaction with the care provided to their children in the Emergency Department (ED), among mothers of children with autistic spectrum disorder (ASD) in comparison to mothers of children without ASD. DESIGN AND METHODS: In this correlational quantitative study, 128 Israeli mothers – 59 (46%) mothers of children with ASD and 69 (54%) of children without ASD – completed an online survey based on a Ministry of Health national survey of patient experience. RESULTS: Mothers of children with ASD expressed lower satisfaction with the care provided. The difference was particularly evident concerning waiting times for examination of the child by nurses and physicians in the ED, whether the nurses were attentive and responsive to the mother’s questions and concerns, whether the ED staff demonstrated coordination and cooperation with regard to medical care of the child, and whether work in the ED was conducted in an orderly and organized manner. The presence of communication difficulties in children predicted mothers’ satisfaction with care. CONCLUSIONS: These findings suggest that certain needs of mothers and/or their children with ASD do not receive an appropriate response in the ED. PRACTICE IMPLICATIONS: It is important to raise the awareness of healthcare providers in EDs regarding the needs of children with ASD and their parents, especially children with communication difficulties. Strategies should be implemented to improve the experience of children with ASD and their parents in the ED.

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3. Dai Y, Chen M, Deng T, Huang B, Ji Y, Feng Y, Liu S, Zhang L. The importance of parenting self-efficacy and social support for family quality of life in children newly diagnosed with autism spectrum disorder: A one-year follow-up study. Autism research : official journal of the International Society for Autism Research. 2023.

Improving the quality of family life (FQoL) is one of the ultimate goals for autism spectrum disorder (ASD) intervention, and parenting self-efficacy and social support are critical for the well-being of families. However, longitudinal studies focusing on FQoL and its predictors for families of children with ASD are scarce. This study aims to describe the characteristics of FQoL among parents of children newly diagnosed with ASD at two waves (newly diagnosed and diagnosed after one year) and to explore the predictors of FQoL at two waves. It was conducted at a tertiary hospital in Guangzhou, China. A total of 156 parents and their children were included in Wave 1, followed up with 110 in Wave 2 after 1 year. The overall satisfaction of FQoL improved (t = -2.128, p < 0.05), while satisfaction with physical/material well-being decreased (t = 5.972, p < 0.01). Additionally, the overall importance rating of FQoL improved but did not have statistical significance (p > 0.05). Parents with higher parenting self-efficacy (β = 0.716, P < 0.01), and more subjective social support (β = 1.127, p < 0.001) reported higher satisfaction with FQoL, and those with better social support utilization (β = 1.066, p < 0.05) reported higher importance for FQoL. FQoL needs to be improved in the early stage of ASD diagnosis, and parental self-efficacy and social support can serve as the intervention targets.

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4. Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Scientific data. 2023; 10(1): 813.

Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic of multicellular organisms that plays a crucial role in normal development and disease. To study the nature and extent of somatic mosaicism in autism spectrum disorder, bipolar disorder, focal cortical dysplasia, schizophrenia, and Tourette syndrome, a multi-institutional consortium called the Brain Somatic Mosaicism Network (BSMN) was formed through the National Institute of Mental Health (NIMH). In addition to genomic data of affected and neurotypical brains, the BSMN also developed and validated a best practices somatic single nucleotide variant calling workflow through the analysis of reference brain tissue. These resources, which include >400 terabytes of data from 1087 subjects, are now available to the research community via the NIMH Data Archive (NDA) and are described here.

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5. Griffen B, Holyfield C, Lorah ER, Caldwell N. Increasing linguistic and prelinguistic communication for social closeness during naturalistic AAC instruction with young children on the autism spectrum. Augmentative and alternative communication (Baltimore, Md : 1985). 2023: 1-14.

This study examined the effects of an intervention package using high-tech augmentative and alternative communication (AAC) with Naturalistic Instruction (NI), time delay, and prompting during social routines for preschoolers on the autism spectrum. The AAC was a communication application on a tablet programmed with color photo representations of participants and communication partners engaged in social routines. The primary dependent measure was a linguistic communication turn on the AAC device completing the instructor’s cloze phrase related to the routine. A secondary dependent measure was prelinguistic communication -nonspecific vocalizations and smiling – within each turn of the routine. Results indicated that all communication types increased and maintained for all three participants with two participants meeting mastery criteria within the minimal number of sessions. These results are significant in providing additional evidence for the effectiveness of AAC intervention beyond teaching simple object requests and in teaching more socially meaningful communication to children on the autism spectrum. Additionally, this study supports the use of color photo representations to promote social interaction. Future research should continue to evaluate such interventions on a larger scale and include naturally occurring communication partners, such as siblings and peers.

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6. Liu J, Liu QR, Wu ZM, Chen QR, Chen J, Wang Y, Cao XL, Dai MX, Dong C, Liu Q, Zhu J, Zhang LL, Li Y, Wang YF, Liu L, Yang BR. Specific brain imaging alterations underlying autistic traits in children with attention-deficit/hyperactivity disorder. Behavioral and brain functions : BBF. 2023; 19(1): 20.

BACKGROUND: Autistic traits (ATs) are frequently reported in children with Attention-Deficit/Hyperactivity Disorder (ADHD). This study aimed to examine ATs in children with ADHD from both behavioral and neuroimaging perspectives. METHODS: We used the Autism Spectrum Screening Questionnaire (ASSQ) to assess and define subjects with and without ATs. For behavioral analyses, 67 children with ADHD and ATs (ADHD + ATs), 105 children with ADHD but without ATs (ADHD - ATs), and 44 typically developing healthy controls without ATs (HC - ATs) were recruited. We collected resting-state functional magnetic resonance imaging (rs-fMRI) data and analyzed the mean amplitude of low-frequency fluctuation (mALFF) values (an approach used to depict different spontaneous brain activities) in a sub-sample. The imaging features that were shared between ATs and ADHD symptoms or that were unique to one or the other set of symptoms were illustrated as a way to explore the « brain-behavior » relationship. RESULTS: Compared to ADHD-ATs, the ADHD + ATs group showed more global impairment in all aspects of autistic symptoms and higher hyperactivity/impulsivity (HI). Partial-correlation analysis indicated that HI was significantly positively correlated with all aspects of ATs in ADHD. Imaging analyses indicated that mALFF values in the left middle occipital gyrus (MOG), left parietal lobe (PL)/precuneus, and left middle temporal gyrus (MTG) might be specifically related to ADHD, while those in the right MTG might be more closely associated with ATs. Furthermore, altered mALFF in the right PL/precuneus correlated with both ADHD and ATs, albeit in diverse directions. CONCLUSIONS: The co-occurrence of ATs in children with ADHD manifested as different behavioral characteristics and specific brain functional alterations. Assessing ATs in children with ADHD could help us understand the heterogeneity of ADHD, further explore its pathogenesis, and promote clinical interventions.

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7. Lucarini V, Alouit A, Yeh D, Le Coq J, Savatte R, Charre M, Louveau C, Houamri MB, Penaud S, Gaston-Bellegarde A, Rio S, Drouet L, Elbaz M, Becchio J, Pourchet S, Pruvost-Robieux E, Marchi A, Moyal M, Lefebvre A, Chaumette B, Grice M, Lindberg PG, Dupin L, Piolino P, Lemogne C, Léger D, Gavaret M, Krebs MO, Iftimovici A. Neurophysiological explorations across the spectrum of psychosis, autism, and depression, during wakefulness and sleep: protocol of a prospective case-control transdiagnostic multimodal study (DEMETER). BMC psychiatry. 2023; 23(1): 860.

BACKGROUND: Quantitative electroencephalography (EEG) analysis offers the opportunity to study high-level cognitive processes across psychiatric disorders. In particular, EEG microstates translate the temporal dynamics of neuronal networks throughout the brain. Their alteration may reflect transdiagnostic anomalies in neurophysiological functions that are impaired in mood, psychosis, and autism spectrum disorders, such as sensorimotor integration, speech, sleep, and sense of self. The main questions this study aims to answer are as follows: 1) Are EEG microstate anomalies associated with clinical and functional prognosis, both in resting conditions and during sleep, across psychiatric disorders? 2) Are EEG microstate anomalies associated with differences in sensorimotor integration, speech, sense of self, and sleep? 3) Can the dynamic of EEG microstates be modulated by a non-drug intervention such as light hypnosis? METHODS: This prospective cohort will include a population of adolescents and young adults, aged 15 to 30 years old, with ultra-high-risk of psychosis (UHR), first-episode psychosis (FEP), schizophrenia (SCZ), autism spectrum disorder (ASD), and major depressive disorder (MDD), as well as healthy controls (CTRL) (N = 21 × 6), who will be assessed at baseline and after one year of follow-up. Participants will undergo deep phenotyping based on psychopathology, neuropsychological assessments, 64-channel EEG recordings, and biological sampling at the two timepoints. At baseline, the EEG recording will also be coupled to a sensorimotor task and a recording of the characteristics of their speech (prosody and turn-taking), a one-night polysomnography, a self-reference effect task in virtual reality (only in UHR, FEP, and CTRL). An interventional ancillary study will involve only healthy controls, in order to assess whether light hypnosis can modify the EEG microstate architecture in a direction opposite to what is seen in disease. DISCUSSION: This transdiagnostic longitudinal case-control study will provide a multimodal neurophysiological assessment of clinical dimensions (sensorimotor integration, speech, sleep, and sense of self) that are disrupted across mood, psychosis, and autism spectrum disorders. It will further test the relevance of EEG microstates as dimensional functional biomarkers. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT06045897.

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8. McNeil K, Achenbach J, Lawson B, Delahunty-Pike A, Barber B, Diepstra H. Towards developing an intervention to support periodic health checks for adults with intellectual and developmental disabilities: Striving for health equity. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Although the Canadian Consensus Guidelines for Primary Care of Adults with Intellectual and Developmental Disabilities recommends conducting periodic health checks in primary care, uptake is lacking. This study seeks to understand factors influencing the conduct of periodic health checks and identify what needs to change to increase them. METHOD: Qualitative data from five stakeholder groups (adults with intellectual and developmental disabilities, primary care providers, administrative staff, family, disability support workers) was guided by the Behaviour Change Wheel and the Theoretical Domains Framework to identify barriers and ‘what needs to change’ to support periodic health checks. RESULTS: Stakeholders (n = 41) voiced multiple barriers. A total of 31 common and 2 unique themes were identified plus 33 items ‘needing to change’. CONCLUSION: Despite barriers, stakeholders saw merit in periodic health checks as a preventative and equitable healthcare offering for adults with intellectual and developmental disabilities. Results will inform future intervention development steps.

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9. Medeiros D, Ayala-Baylon K, Egido-Betancourt H, Miller E, Chapleau CA, Robinson HA, Phillips ML, Yang T, Longo F, Li W, Pozzo-Miller L. A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice. bioRxiv : the preprint server for biology. 2023.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein-2 (MECP2), encoding a transcriptional regulator of many genes, including brain-derived neurotrophic factor (Bdnf). BDNF mRNA and protein levels are lower in RTT autopsy brains and in multiple brain regions of Mecp2-deficient mice, and experimentally increasing BDNF levels improve atypical phenotypes in Mecp2 mutant mice. Due to the low blood-brain barrier permeability of BDNF itself, we tested the effects of a brain penetrant, small molecule ligand of its TrkB receptors. Applied in vitro, LM22A-4 increased dendritic spine density in pyramidal neurons in cultured hippocampal slices from postnatal day (P) 7 male Mecp2 knockout (KO) mice as much as recombinant BDNF, and both effects were prevented by the TrkB receptor inhibitors K-252a and ANA-12. Consistent with its partial agonist activity, LM22A-4 did not affect spine density in CA1 pyramidal neurons in slice cultures from male wildtype (WT) mice, where typical BDNF levels outcompete its binding to TrkB. To identify neurons of known genotypes in the « mosaic » brain of female Mecp2 heterozygous (HET) mice, we treated 4-6-month-old female MeCP2-GFP WT and HET mice with peripheral injections of LM22A-4 for 4 weeks. Surprisingly, mutant neurons lacking MeCP2-GFP showed dendritic spine volumes comparable to that in WT controls, while MeCP2-GFP-expressing neurons showed larger spines, similar to the phenotype we described in symptomatic male Mecp2 KO mice where all neurons lack MeCP2. Consistent with this non-cell-autonomous mechanism, a 4-week systemic treatment with LM22A-4 had an effect only in MeCP2-GFP-expressing neurons in female Mecp2 HET mice, bringing dendritic spine volumes down to WT control levels, and without affecting spines of MeCP2-GFP-lacking neurons. At the behavioral level, we found that female Mecp2 HET mice engaged in aggressive behaviors significantly more than WT controls, which were reduced to WT levels by a 4-week systemic treatment with LM22A-4. Altogether, these data revealed differences in dendritic spine size and altered behaviors in Mecp2 HET mice, while providing support to the potential usefulness of BDNF-related therapeutic approaches such as the partial TrkB agonist LM22A-4.

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10. Ne’eman A, Richman KA, McCarthy AM, Wilkenfeld D. A Passing Problem: Evaluating Harm and Benefit in Autism Research. Ethics & human research. 2023; 45(6): 2-18.

Autism research frequently seeks to evaluate interventions or inform their development. Unfortunately, researchers often assume that autism intervention should reduce autistic traits, effectively setting as a goal of treatment that autistic people attempt to « pass » as nonautistic. A growing body of evidence highlights serious potential harms from passing demands. We discuss why it is important for institutional review boards (IRBs) to scrutinize autism research for clinical passing demands, and we document the existence of such demands in outcome measures commonly employed in autism research. We propose an ethical framework for IRBs and others to make use of in evaluating the ethical appropriateness of particular treatment goals in autism intervention or intervention-adjacent research, emphasizing that treatment goals should be in pursuit of a beneficial nonpassing purpose and be the least burdensome means of accomplishing such a purpose. We also highlight potential promising practices for IRBs, investigators, and other stakeholders seeking to address these issues in autism research.

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11. Neuhaus E, Bernier RA, Webb SJ. Social motivation by self- and caregiver-report: Reporter concordance and social correlates among autistic and neurotypical youth. Autism research : official journal of the International Society for Autism Research. 2023.

Differences in social motivation underlie the core social-communication features of autism according to several theoretical models, with decreased social motivation among autistic youth relative to neurotypical peers. However, research on social motivation often relies on caregiver reports and rarely includes firsthand perspectives of children and adolescents with autism. Furthermore, social motivation is typically assumed to be constant across social settings when it may actually vary by social context. Among a sample of 58 verbally fluent youth (8-13 years old; 22 with autism, 36 neurotypical), we examined correspondence between youth and caregiver reports of social motivation with peers and with adults, as well as diagnostic group differences and associations with social outcomes. Results suggest youth and caregivers provide overlapping but distinct information. Autistic youth had lower levels of social motivation relative to neurotypical youth, and reported relatively consistent motivation toward peers and adults. Youth self- and caregiver-report were correlated for motivation toward adults, but not toward peers. Despite low correspondence between self- and caregiver-reported motivation toward peers, autistic youths’ self-report corresponded to caregiver-reported social skills and difficulties whereas caregiver-report of peer motivation did not. For neurotypical youth, self- and caregiver-reported motivation toward adults was correlated, but motivation by both reporters was largely independent of broader social outcomes. Findings highlight the unique value of self-report among autistic children and adolescents, and warrant additional work exploring the development, structure, and correlates of social motivation among autistic and neurotypical youth.

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12. Pastore SF, Muhammad T, Stan C, Frankland PW, Hamel PA, Vincent JB. Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence. Scientific reports. 2023; 13(1): 20391.

Patched domain-containing 1 (PTCHD1) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous studies have suggested that alterations in the dosage of PTCHD1 may contribute to the etiology of both ASD and ID. However, there has not yet been a thorough investigation regarding mechanisms that regulate PTCHD1 expression. We sought to characterize the Ptchd1 promoter in a mouse neuronal model, as well as to identify and validate cis regulatory elements. We defined specific regions of the Ptchd1 promoter essential for robust expression in P19-induced neurons. Evolutionarily-conserved putative transcription factor binding sites within these regions were subsequently identified. Using a pairwise comparison of chromatin accessibility between mouse forebrain and liver tissues, a candidate regulatory region, ~ 9.1 kbp downstream of the Ptchd1 stop codon was defined. This region harbours two ENCODE-predicted enhancer cis-regulatory elements. Further, using DNase footprint analysis, a putative YY1-binding motif was also identified. Genomic deletion of the entire 8 kbp downstream open chromatin region attenuated Ptchd1 transcription by over 60% in our neuronal model, corroborating its predicted regulatory function. This study provides mechanistic insights related to the expression of PTCHD1, and provides important context to interpret genetic and genomic variation at this locus which may influence neurodevelopment.

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13. Radwan K, Wu G, Banks-Word K, Rosenberger R. An Open-Label Case Series of Glutathione Use for Symptomatic Management in Children with Autism Spectrum Disorder. Medical sciences (Basel, Switzerland). 2023; 11(4).

Autism spectrum disorder (ASD) is a type of neurodevelopmental disorder that has been diagnosed in an increasing number of children around the world. The existing data suggest that early diagnosis and intervention can improve ASD outcomes. The causes of ASD remain complex and unclear, and there are currently no clinical biomarkers for autism spectrum disorder. There is an increasing recognition that ASD might be associated with oxidative stress through several mechanisms including abnormal metabolism (lipid peroxidation) and the toxic buildup of reactive oxygen species (ROS). Glutathione acts as an antioxidant, a free radical scavenger and a detoxifying agent. This open-label pilot study investigates the tolerability and effectiveness of oral supplementation with Opitac(TM) gluthathione as a treatment for patients with ASD. The various aspects of glutathione Opitac(TM) glutathione bioavailability were examined when administered by oral routes. The absorption of glutathione from the gastrointestinal tract has been recently investigated. The results of this case series suggest that oral glutathione supplementation may improve oxidative markers, but this does not necessarily translate to the observed clinical improvement of subjects with ASD. The study reports a good safety profile of glutathione use, with stomach upset reported in four out of six subjects. This article discusses the role of the gut microbiome and redox balance in ASD and notes that a high baseline oxidative burden may make some patients poor responders to glutathione supplementation. In conclusion, an imbalance in redox reactions is only one of the many factors contributing to ASD, and further studies are necessary to investigate other factors, such as impaired neurotransmission, immune dysregulation in the brain, and mitochondrial dysfunction.

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14. Safwi SR. Autism spectrum disorder in the US: Have we done enough?. Psychiatry research. 2023; 330: 115595.

Autism spectrum disorders (ASD) are a collection of neurodevelopmental disabilities, defined by the presence of social, behavioral and communication deficits, that are typically recognized during the first three years of life. Autism has emerged as a significant public health concern, yet there are no answers to its increasing rates. Recent data from the Autism and Developmental Disability Monitoring (ADDM) Network reported that 1 in every 36 (2.8 %) 8-year-old children were found to have autism in 2020. The current research attempts to identify the major challenges around autism care across the US such as: Inconsistent diagnosis and referral leading to delayed start of service, unequal availability of trained licensed Applied Behavioral Analysis (ABA) therapist, Inconsistent implementation of ABA interventions at various settings, Lack of support, education services and vocational opportunities for children transitioning into adulthood. This article also proposes and discusses possible strategies for mitigating those challenges.

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15. Sellitto T, Fraser-Thomas J, Bassett-Gunter RL, Lee V, Lunsky Y, Balogh R, Weiss JA. The role of thriving in mental health among people with intellectual and developmental disabilities during the COVID-19 pandemic in Canada. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: The COVID-19 pandemic has had a negative impact on the mental health of people with intellectual and developmental disabilities. Numerous pandemic-related stressors experienced by people with intellectual and developmental disabilities may have impacted their ability to thrive, which has been linked to mental health outcomes. The current study examined the associations among COVID-19 stressors, thriving, and mental health problems among youth and adults with intellectual and developmental disabilities. METHOD: Caregivers of 159 people with intellectual and developmental disabilities between 12 and 35 years of age from Canada completed an online questionnaire. RESULTS: A mediation analysis revealed that COVID-19 stressors were positively associated with mental health problems, and that thriving partially mediated this association. CONCLUSION: Our findings suggest that experiences of thriving may be an important target for mental health support for people with intellectual and developmental disabilities.

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