1. Armin JS, Williamson HJ, Rothers J, Lee MS, Baldwin JA. An Adapted Cancer Screening Education Program for Native American Women With Intellectual and Developmental Disabilities and Their Caregivers: Protocol for Feasibility and Acceptability Testing. JMIR research protocols. 2023; 12: e37801.

BACKGROUND: Women with intellectual and developmental disabilities (IDD) do not undergo breast and cervical cancer screening at the same rate as women without IDD. IDDs are diagnosed in childhood, are lifelong, and involve difficulties in adaptive behaviors and intellectual functioning. Native American women also experience disparities in breast and cervical cancer screenings. Despite known disparities, women with IDD are often not included in health promotion programs, and there is a need for evidence-based programming for those with intersectional identities, such as Native American women with IDD. OBJECTIVE: This study aims to assess the feasibility and acceptability of My Health My Choice (MHMC), an adaptation of the Women Be Healthy 2 program. There are 2 parts to the study: adaptation of the Women Be Healthy 2 program and feasibility and acceptability testing of MHMC. METHODS: Individuals aged over 18 years who identify as Native American females with IDD and their caregivers (N=30 women-caregiver dyads) are eligible for the study. Participants, who are affiliated with 2 partnering sites in Arizona (1 rural and 1 urban), complete pre- and postsurveys assessing knowledge, self-efficacy, and screening expectations before and immediately after completing the program. In addition, all participants complete brief satisfaction surveys after each of the 6 educational sessions. A subsample of Native American women with an IDD (n=12), caregivers (n=12), and community health educators (n=2) who participate in the MHMC program will provide semistructured qualitative input regarding the content, delivery, and cultural relevance of the program. RESULTS: The adaptation of the culturally responsive MHMC program was completed in August 2021. In November 2021, the project team began recruitment for feasibility and acceptability studies. Feasibility will be examined using participation metrics, and acceptability will be measured using satisfaction measures. Pre- and postmeasures in cancer screening knowledge, self-efficacy, and screening expectations will examine improvements among participants. CONCLUSIONS: The results of feasibility and acceptability testing of MHMC will guide future implementation studies of the program. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/37801.

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2. Coulter D, Lynch C, Joosten AV. ‘Exploring the perspectives of young adults with developmental disabilities about sexuality and sexual health education’. Australian occupational therapy journal. 2023.

BACKGROUND: Sexuality is important in everyday lives; it contributes to a sense of self. Everyone has a right to access sexual experiences, form relationships, and obtain sexual health education. There is limited literature from the perspective of people with developmental disabilities about their sexuality and particularly how, or if, societal attitudes influence their sexuality and their opinions about sexual health education. The aim of this study was to explore the experiences of young adults with developmental disabilities about their sexuality, their perceptions about how their sexuality was viewed by the community, and about the sexual education that is required and how it should be delivered. METHOD: A qualitative interpretative phenomenological approach using a purposive sample was used to explore the perspectives of young adults, aged between 18 and 32 years old with developmental disabilities, to explore their perspectives on their sexuality, societal attitudes, and access to sexual health education. Seven semi-structured interviews were conducted and analysed using an interpretative phenomenological approach. RESULTS: Five main themes were developed from the data: (1) sexuality is multidimensional and important, (2) the challenges and fear of expressing sexuality, (3) societal views need to change, (4) close support enables sexuality, and (5) sexual health education needs to be individualised. CONCLUSION: Participants suggested that sexuality was important to them, and they had the same expectations about sexuality and relationships as many young adults. However, their autonomy and self-determination to set sexuality goals were constrained by societal attitudes. Supportive family and friends enabled opportunities, but they believed the knowledge and attitudes about disability, and about disability and sexuality, of community members, service providers, funders, and educators needed to change to enable increased opportunity to express their sexuality. Participants reported a need for individualised sexual health education provided by professionals with expertise.

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3. Habermann-Horstmeier L. [The situation of people with intellectual and developmental disabilities in the COVID-19 pandemic-risk factors, problem areas, and measures]. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz. 2023: 1-9.

Many people with intellectual and developmental disabilities (IDD) were much more affected by COVID-19 than the average population. The morbidity in this population group was significantly higher due to the form of their housing and care as well as disability-associated health factors (such as Down’s syndrome). This led, among other things, to a higher incidence of inpatient settings, a higher mortality rate among hospitalized patients, and a higher case fatality rate among certain subgroups. Risk factors were co-diseases such as dysphagia, epilepsy, or mental disorders. In addition, there were health consequences from restrictive exposure prophylaxis measures at the beginning of the COVID-19 pandemic.This overview article describes the main developments in the care of people with IDD since the beginning of the pandemic. New mental problems or an increase in existing mental problems occurred more frequently in people with IDD who were cared for on an outpatient basis or by relatives. People with IDD in inpatient residential facilities were less frequently affected. The main reasons for psychological problems were lack of social contacts, lost work and employment opportunities, the frightening pandemic situation, and the major structural and personnel changes in the facilities at the beginning of the pandemic. During the pandemic, there were also problems with the implementation of therapeutic and preventive measures. On the other hand, especially in the inpatient area, the « slowing down of life » associated with the restrictions at the beginning of the pandemic also had a stress-reducing effect on some of the people with IDD and was perceived by them as something positive. Caregivers had more time for the genuine (i.e., pedagogical) work. Overall, it was shown that health-promoting measures must also take into account the great heterogeneity of the people with IDD and their living conditions during the pandemic.

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4. Kondaurova EM, Belokopytova, II, Kulikova EA, Khotskin NV, Ilchibaeva TV, Tsybko AS, Popova NK, Naumenko VS. On the role of serotonin 5-HT(1A) receptor in autistic-like behavior: сross talk of 5-HT and BDNF systems. Behavioural brain research. 2023; 438: 114168.

Autism spectrum disorders (ASDs) are some of the most common neurodevelopmental disorders; however, the mechanisms underlying ASDs are still poorly understood. Serotonin (5-HT) and brain-derived neurotrophic factor (BDNF) are known as key players in brain and behavioral plasticity and interact with each other. 5-HT(1A) receptor is a principal regulator of the brain 5-HT system, which modulates normal and pathological behavior. Here we investigated effects of adeno-associated-virus-based 5-HT(1A) receptor overexpression in the hippocampus of BTBR mice (which are a model of autism) on various types of behavior and on the expression of 5-HT(7) receptor, proBDNF, mature BDNF, and BDNF receptors (TrkB and p75(NTR)). The 5-HT(1A) receptor overexpression in BTBR mice reduced stereotyped behavior in the marble-burying test and extended the time spent in the center in the open field test. Meanwhile, this overexpression failed to affect social behavior in the three-chambered test, immobility time in the tail suspension test, locomotor activity in the open field test, and associative learning within the « operant wall » paradigm. The 5-HT(1A) receptor overexpression in the hippocampus raised hippocampal 5-HT(7) receptor mRNA and protein levels. Additionally, the 5-HT(1A) receptor overexpression lowered both mRNA and protein levels of TrkB receptor but failed to affect proBDNF, mature BDNF, and p75(NTR) receptor expression in the hippocampus of BTBR mice. Thus, obtained results suggest the involvement of the 5-HT and BDNF systems’ interaction mediated by 5-HT(1A) and TrkB receptors in the mechanisms underlying autistic-like behavior in BTBR mice.

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5. Morris P, Hope E, Foulsham T, Mills JP. Dancing out for a voice; a narrative review of the literature exploring autism, physical activity, and dance. Journal of bodywork and movement therapies. 2023; 33: 202-15.

Autism Spectrum Disorder is characterised by profound challenges with social communication and social interaction. Currently, there are few therapeutic interventions that successfully target some of the functionally impairing traits associated with autism. Furthermore, many of these interventions comprise a variety of limitations; including, limited accessibility, extensive durations, or the requirement of a trained professional to deliver the intervention. New research suggests that instead of targeting all traits associated with Autism Spectrum Disorder with a single solution, scientific research should focus on providing therapeutic tools that alleviate functionally impairing facets specific to the individual. Owing to the nature of physical activity, sports, and dance (coordinated movement) these activities could provide opportunities to enhance communication skills and social development in autistic children. Therefore, this paper gives a narrative overview of the literature surrounding communication and coordinated movement; outlining what is meant by communication challenges, exploring the benefits of coordinated movement for traits associated with Autism Spectrum Disorder, and delineating how coordinated movement elicits positive outcomes for autistic children.

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6. Orekhova EV, Manyukhina VO, Galuta IA, Prokofyev AO, Goiaeva DE, Obukhova TS, Fadeev KA, Schneiderman JF, Stroganova TA. Gamma oscillations point to the role of primary visual cortex in atypical motion processing in autism. PloS one. 2023; 18(2): e0281531.

Neurophysiological studies suggest that abnormal neural inhibition may explain a range of sensory processing differences in autism spectrum disorders (ASD). In particular, the impaired ability of people with ASD to visually discriminate the motion direction of small-size objects and their reduced perceptual suppression of background-like visual motion may stem from deficient surround inhibition within the primary visual cortex (V1) and/or its atypical top-down modulation by higher-tier cortical areas. In this study, we estimate the contribution of abnormal surround inhibition to the motion-processing deficit in ASD. For this purpose, we used a putative correlate of surround inhibition-suppression of the magnetoencephalographic (MEG) gamma response (GR) caused by an increase in the drift rate of a large annular high-contrast grating. The motion direction discrimination thresholds for the gratings of different angular sizes (1° and 12°) were assessed in a separate psychophysical paradigm. The MEG data were collected in 42 boys with ASD and 37 typically developing (TD) boys aged 7-15 years. Psychophysical data were available in 33 and 34 of these participants, respectively. The results showed that the GR suppression in V1 was reduced in boys with ASD, while their ability to detect the direction of motion was compromised only in the case of small stimuli. In TD boys, the GR suppression directly correlated with perceptual suppression caused by increasing stimulus size, thus suggesting the role of the top-down modulations of V1 in surround inhibition. In ASD, weaker GR suppression was associated with the poor directional sensitivity to small stimuli, but not with perceptual suppression. These results strongly suggest that a local inhibitory deficit in V1 plays an important role in the reduction of directional sensitivity in ASD and that this perceptual deficit cannot be explained exclusively by atypical top-down modulation of V1 by higher-tier cortical areas.

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7. Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a journal of neurology. 2023; 146(2): 534-48.

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated sCAPRIN1+/- human induced pluripotent stem cells via CRISPR-Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models.

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8. Peng L, Chen Z, Gao X. Altered rich-club organization of brain functional network in autism spectrum disorder. BioFactors (Oxford, England). 2023.

Despite numerous research showing the association between brain network abnormalities and autism spectrum disorder (ASD), contrasting findings have been reported from broad functional underconnectivity to broad overconnectivity. Thus, the significance of rich-hub organizations in the brain functional connectome of individuals with ASD remains largely unknown. High-quality data subset of ASD (n = 45) and healthy controls (HC; n = 47) children (7-15 years old) were retrieved from the ABIDE data set, and rich-club organization and network-based statistic (NBS) were assessed from resting-state functional magnetic resonance imaging (rs-fMRI). The rich-club organization functional network (normalized rich-club coefficients >1) was observed in all subjects under a range of thresholds. Compared with HC, ASD patients had higher degree of feeder connections and lower degree of local connections (degree of feeder connections: ASD = 259.20 ± 32.97, HC = 244.98 ± 30.09, p = 0.041; degree of local connections: ASD = 664.02 ± 39.19, HC = 679.89 ± 34.05, p = 0.033) but had similar in rich-club connections. Further, nonparametric NBS analysis showed the presence of abnormal connectivity in the functional network of ASD individuals. Our findings indicated that local connection might be more vulnerable, and feeder connection may compensate for its disruption in ASD, enhancing our understanding on the mechanism of functional connectome dysfunction in ASD.

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9. Rodriguez-Perez M, Kennedy M, Barker ED, Kreppner J, Solerdelcoll M, Sonuga-Barke EJS. The adult outcome of childhood quasi-autism arising following extreme institutional deprivation. Journal of child psychology and psychiatry, and allied disciplines. 2023.

BACKGROUND: Rutter and colleagues’ seminal observation that extended early life exposure to extreme institutional deprivation can result in what he termed quasi-autism (QA), informed both our understanding of the effects of adversity on development and the nature of autism. Here we provide the first detailed analysis of the adult outcomes of the group of institutionally deprived-then-adopted children identified as displaying QA. METHODS: Twenty-six adult adoptees identified with QA in childhood (Childhood QA+) were compared to 75 adoptees who experienced extended institutional deprivation (>6 months) but no QA (Childhood QA-), and 116 adoptees exposed to Low/No institutional deprivation. The outcomes were child-to-adult developmental trajectories of neuro-developmental symptoms (autism, attention-deficit/hyperactivity disorder (ADHD), disinhibited social engagement (DSE) and cognitive impairment), adult functioning, life satisfaction and mental health. RESULTS: Childhood QA+ was associated with elevated and persistent trajectories of broad-based autism-related difficulties, ADHD and DSE symptoms and low IQ, as well as adult mental health difficulties and functional impairment, including high rates of low educational attainment and unemployment. Life satisfaction and self-esteem were unaffected. Autism-related communication problems, in particular, predicted negative adult outcomes. Childhood QA+ was still associated with poor outcomes even when ADHD, DSE and IQ were controlled. CONCLUSIONS: Early and time-limited institutional deprivation has a critical impact on adult functioning, in part via its association with an early established and persistent variant of autism, especially related to communication difficulties. Apparent similarities and differences to non-deprivation related autism are discussed.

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